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David J. Kwiatkowski, MD, PhD


Medical Oncology

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Physician

  • Senior Physician
  • Professor of Medicine, Harvard Medical School

Centers/Programs

Clinical Interests

  • Cancer genetics
  • Lung cancer
  • Mesothelioma
  • Personalized and targeted therapies for lung cancer and mesothelioma

Contact Information

  • Appointments877-332-4294 (new)
    617-632-6190 (established)
  • Office Phone Number617-632-6049
  • Fax617-632-5786

Bio

David Kwiatkowski is a Professor of Medicine at Harvard Medical School, and Senior Physician at Brigham and Women’s Hospital/Dana-Farber Cancer Institute. He earned a BSc from Caltech and a PhD from MIT, both in Mathematics. He received his MD degree from Columbia University, and received the Janeway Prize at graduation for the highest achievement and abilities in the graduating medical class. He pursued Internal Medicine and then Hematology-Oncology training at the Massachusetts General Hospital, and remained at MGH until 1991 when he moved to BWH/DFCI.  Dr. Kwiatkowski has specialized in thoracic oncology, and has broad interests in all types of thoracic malignancies, including lung cancer, thymic cancer, and mesothelioma.  He is a self-trained human and cancer geneticist, and has been the leader of the Dana-Farber/Harvard Cancer Center Cancer Genetics program since 2007.  He is an Associate Member of the Broad Institute, and an active participant in The Cancer Genome Atlas (TCGA), working on multiple cancer types and programs.  His current patient research interests are: personalized/targeted treatment of cancers according to their mutations, targeting the mTOR pathway in cancer, and mesothelioma therapeutic development and treatment.  He has a much deeper familiarity with mesothelioma than the average thoracic oncologist, and sees many patients on referral from around the country.

Board Certification:

  • Internal Medicine, 1982
  • Medical Oncology, 1985

Fellowship:

  • Massachusetts General Hospital, Hematology & Oncology

Residency:

  • Massachusetts General Hospital, Internal Medicine

Medical School:

  • Columbia University College of Physicians & Surgeons

Recent Awards:

  • Professor of Medicine, Harvard Medical School; Senior Physician, BWH, DFCI 2004
  • NIH NINDS Javits Neuroscience Investigator Award 2007
  • Program Leader, Dana Farber Harvard Cancer Center Cancer Genetics Program 2007
  • The LAM Foundation Scientific Advancement Award 2013
  • Manuel R. Gomez Award of the Tuberous Sclerosis Alliance 2000
  • Harvard Medical School Excellence in Tutoring Award, 2010, 2011 2010, 2011

Research

mTOR signaling in cancer: therapeutic target

I have broad interests in human cancer genetics, and have been Program Leader for the DFHCC Cancer Genetics program for the past 8 years.  I am an Associate Member of the Broad Institute, and have been active in multiple NCI TCGA (The Cancer Genome Atlas) projects, including adenocarcinoma and squamous cell carcinoma of the lung, bladder cancer, kidney chromophobe cancer, mesothelioma, and pathway analyses.
 
It has become apparent that a variety of cancers (partially due to our analyses) have mutations in TSC1 or TSC2 at rates of 1 – 10%. Moreover, in some cases TSC1/TSC2-mutant cancers are highly sensitive to treatment with rapalogs, with durable CRs lasting several years. We are studying these patients to elucidate the genetic and other determinants of response to rapalogs, and investigating synergistic treatment approaches. I am the PI of a Novartis-sponsored Investigator-initiated trial to treat all cancers with mutations in either TSC1 or TSC2 with everolimus. A variety of correlative genetic studies will be done as part of that trial.

We generated a mouse model of mesothelioma due to mutation and loss of Tsc1, and demonstrated that these tumors were highly sensitive to treatment with rapalogs.  We also demonstrated some degree of mTOR activation in both mesothelioma cell lines and resected patient mesotheliomas.  This has led to enhanced interest in therapeutic strategies for mesothelioma, which although a rare malignancy overall, is commonly seen at BWH/DFCI.  I am engaged in several efforts to develop novel therapeutic approaches and clinical trials for mesothelioma.

CDKN2A Alterations and Response to Immunotherapy in Solid Tumors. Clin Cancer Res. 2021 Jun 01.
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MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis. Neuropathol Appl Neurobiol. 2021 May 03.
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Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. Ann Am Thorac Soc. 2021 05; 18(5):815-819.
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Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer. PLoS One. 2021; 16(4):e0248380.
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Trans-ethnic variation in germline variants of patients with renal cell carcinoma. Cell Rep. 2021 Mar 30; 34(13):108926.
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Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes. Epilepsia. 2021 May; 62(5):1208-1219.
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Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations. Clin Cancer Res. 2021 Mar 16.
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Tertiary lymphoid structure score: a promising approach to refine the TNM staging in resected non-small cell lung cancer. Br J Cancer. 2021 May; 124(10):1680-1689.
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Whole-genome characterization of lung adenocarcinomas lacking alterations in the RTK/RAS/RAF pathway. Cell Rep. 2021 Feb 23; 34(8):108784.
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Therapeutic Targeting of DGKA-Mediated Macropinocytosis Leads to Phospholipid Reprogramming in Tuberous Sclerosis Complex. Cancer Res. 2021 Apr 15; 81(8):2086-2100.
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mTORC1 hyperactivation in lymphangioleiomyomatosis leads to ACE2 upregulation in type II pneumocytes: implications for COVID-19. Eur Respir J. 2021 02; 57(2).
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Whole-genome characterization of lung adenocarcinomas lacking the RTK/RAS/RAF pathway. Cell Rep. 2021 Feb 02; 34(5):108707.
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Distribution of KRASG12C Somatic Mutations across Race, Sex, and Cancer Type. N Engl J Med. 2021 01 14; 384(2):185-187.
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Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin. Sci Adv. 2021 Jan; 7(2).
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Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2020 Dec 22.
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Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial. Ann Neurol. 2021 02; 89(2):304-314.
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Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell. Am J Respir Crit Care Med. 2020 11 15; 202(10):1373-1387.
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MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61. Oncogene. 2021 01; 40(1):112-126.
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Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics. Front Neurol. 2020; 11:582891.
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Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol. 2021 02; 34(2):264-279.
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Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers. J Neuropathol Exp Neurol. 2020 10 01; 79(10):1054-1064.
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Round Robin Evaluation of MET Protein Expression in Lung Adenocarcinomas Improves Interobserver Concordance. Appl Immunohistochem Mol Morphol. 2020 10; 28(9):669-677.
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Genomic Predictors of Good Outcome, Recurrence, or Progression in High-Grade T1 Non-Muscle-Invasive Bladder Cancer. Cancer Res. 2020 10 15; 80(20):4476-4486.
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Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex? Ann Clin Transl Neurol. 2020 08; 7(8):1371-1381.
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Systemic Absorption of Lidocaine from Continuous Erector Spinae Plane Catheters After Congenital Cardiac Surgery: A Retrospective Study. J Cardiothorac Vasc Anesth. 2020 Nov; 34(11):2986-2993.
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TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genet Med. 2020 09; 22(9):1489-1497.
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Celecoxib in lymphangioleiomyomatosis: results of a phase I clinical trial. Eur Respir J. 2020 05; 55(5).
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Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma. Genet Med. 2020 08; 22(8):1366-1373.
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Mammalian SWI/SNF Complex Genomic Alterations and Immune Checkpoint Blockade in Solid Tumors. Cancer Immunol Res. 2020 08; 8(8):1075-1084.
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Reply To Kenneth B. Yatai, Mark J. Dunning, Dennis Wang. Consensus Genomic Subtypes of Muscle-invasive Bladder Cancer: A Step in the Right Direction but Still a Long Way To Go. Eur Urol 2020;77:434-5. Eur Urol. 2020 04; 77(4):436-438.
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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma. Br J Cancer. 2020 02; 122(4):555-563.
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Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genet Med. 2020 04; 22(4):709-718.
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Facing Uncertainty. N Engl J Med. 2019 Dec 05; 381(23):2253-2259.
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Facing Uncertainty. N Engl J Med. 2019 Nov 28; 381(22):e39.
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Mutations and Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma. Mol Cancer Ther. 2020 02; 19(2):690-696.
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Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis. Eur Respir J. 2019 10; 54(4).
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Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion. J Exp Med. 2019 11 04; 216(11):2635-2652.
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A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults. Br J Dermatol. 2020 01; 182(1):235-237.
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Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1. Mol Ther Methods Clin Dev. 2019 Dec 13; 15:18-26.
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A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis. Eur Respir J. 2019 06; 53(6).
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MET IHC Is a Poor Screen for MET Amplification or MET Exon 14 Mutations in Lung Adenocarcinomas: Data from a Tri-Institutional Cohort of the Lung Cancer Mutation Consortium. J Thorac Oncol. 2019 09; 14(9):1666-1671.
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Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 11; 21(11):2639-2643.
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Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study. J Clin Med. 2019 Jun 03; 8(6).
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Phenotypic distinctions between mosaic forms of tuberous sclerosis complex. Genet Med. 2019 11; 21(11):2594-2604.
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The Codon 72 TP53 Polymorphism Contributes to TSC Tumorigenesis through the Notch-Nodal Axis. Mol Cancer Res. 2019 08; 17(8):1639-1651.
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Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240.
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The Cancer Genome Atlas Expression Subtypes Stratify Response to Checkpoint Inhibition in Advanced Urothelial Cancer and Identify a Subset of Patients with High Survival Probability. Eur Urol. 2019 06; 75(6):961-964.
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MCL1 and DEDD Promote Urothelial Carcinoma Progression. Mol Cancer Res. 2019 06; 17(6):1294-1304.
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Characteristics and Outcomes of Patients With Metastatic KRAS-Mutant Lung Adenocarcinomas: The Lung Cancer Mutation Consortium Experience. J Thorac Oncol. 2019 05; 14(5):876-889.
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Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites. Clin Cancer Res. 2019 04 15; 25(8):2458-2470.
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A novel mouse model of hemangiopericytoma due to loss of Tsc2. Hum Mol Genet. 2018 12 15; 27(24):4169-4175.
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Assessment of Resistance Mechanisms and Clinical Implications in Patients With EGFR T790M-Positive Lung Cancer and Acquired Resistance to Osimertinib. JAMA Oncol. 2018 11 01; 4(11):1527-1534.
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Integrative Molecular Characterization of Malignant Pleural Mesothelioma. Cancer Discov. 2018 12; 8(12):1548-1565.
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Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma. PLoS Genet. 2018 09; 14(9):e1007679.
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Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell. 2018 08 09; 174(4):1033.
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Sequential Response to FGFR3 Inhibition With Subsequent Exceptional Response to Atezolizumab in a Patient With FGFR3-TACC3 Fusion-Positive Metastatic Urothelial Carcinoma. JCO Precis Oncol. 2018; 2.
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The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 Jun 19; 23(12):3698.
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Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma. Proc Natl Acad Sci U S A. 2018 07 03; 115(27):E6274-E6282.
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Enrichment of FGFR3-TACC3 Fusions in Patients With Bladder Cancer Who Are Young, Asian, or Have Never Smoked. JCO Precis Oncol. 2018; 2.
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TSC2 regulates microRNA biogenesis via mTORC1 and GSK3ß. Hum Mol Genet. 2018 05 01; 27(9):1654-1663.
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Comprehensive Genomic Profiling of Metastatic Tumors in a Phase 2 Biomarker Study of Everolimus in Advanced Renal Cell Carcinoma. Clin Genitourin Cancer. 2018 10; 16(5):341-348.
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RAS-MAPK Reactivation Facilitates Acquired Resistance in FGFR1-Amplified Lung Cancer and Underlies a Rationale for Upfront FGFR-MEK Blockade. . 2018 07; 17(7):1526-1539.
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The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 04 03; 23(1):313-326.e5.
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Pan-Cancer Molecular Classes Transcending Tumor Lineage Across 32 Cancer Types, Multiple Data Platforms, and over 10,000 Cases. Clin Cancer Res. 2018 05 01; 24(9):2182-2193.
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Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. J Thorac Oncol. 2018 03; 13(3):323-358.
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Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. J Mol Diagn. 2018 03; 20(2):129-159.
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Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. Arch Pathol Lab Med. 2018 Mar; 142(3):321-346.
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Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017 12 26; 21(13):3754-3766.
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The Impact of Smoking and TP53 Mutations in Lung Adenocarcinoma Patients with Targetable Mutations-The Lung Cancer Mutation Consortium (LCMC2). Clin Cancer Res. 2018 03 01; 24(5):1038-1047.
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mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. Neuropsychopharmacology. 2018 05; 43(6):1457-1465.
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Notch transactivates Rheb to maintain the multipotency of TSC-null cells. Nat Commun. 2017 11 29; 8(1):1848.
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mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability. Cancer Cell. 2017 11 13; 32(5):624-638.e5.
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Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell. 2017 Oct 19; 171(3):540-556.e25.
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Genomic Activation of PPARG Reveals a Candidate Therapeutic Axis in Bladder Cancer. Cancer Res. 2017 12 15; 77(24):6987-6998.
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Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. Oncotarget. 2017 Nov 10; 8(56):95516-95529.
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Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. Cancer Res. 2017 10 15; 77(20):5491-5502.
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Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Sci Rep. 2017 08 14; 7(1):8089.
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Rapamycin-induced miR-21 promotes mitochondrial homeostasis and adaptation in mTORC1 activated cells. Oncotarget. 2017 Sep 12; 8(39):64714-64727.
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Tuberin Regulates Prostaglandin Receptor-Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells. Mol Cancer Res. 2017 10; 15(10):1318-1330.
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Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation. Ann Am Thorac Soc. 2017 07; 14(7):1227-1229.
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Erratum: Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2. Nat Commun. 2017 06 09; 8:15901.
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Environmental noise spectroscopy with qubits subjected to dynamical decoupling. J Phys Condens Matter. 2017 Aug 23; 29(33):333001.
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A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations. Cancer Cell. 2017 06 12; 31(6):820-832.e3.
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Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2. Nat Commun. 2017 04 07; 8:14922.
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Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation. J Clin Invest. 2017 01 03; 127(1):349-364.
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Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex. PLoS One. 2016; 11(12):e0167384.
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Institutional implementation of clinical tumor profiling on an unselected cancer population. JCI Insight. 2016 11 17; 1(19):e87062.
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Pancreatic PEComa is a novel member of the family of tuberous sclerosis complex-associated tumors: case report and review of the literature. Virchows Arch. 2016 Dec; 469(6):707-710.
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Seizures in tuberous sclerosis complex: hitting the target. Lancet. 2016 10 29; 388(10056):2062-2064.
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Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet. 2016 08; 12(8):e1006242.
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Inhibition of MAPK pathway is essential for suppressing Rheb-Y35N driven tumor growth. Oncogene. 2017 02 09; 36(6):756-765.
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Whole-Exome Sequencing in Two Extreme Phenotypes of Response to VEGF-Targeted Therapies in Patients With Metastatic Clear Cell Renal Cell Carcinoma. J Natl Compr Canc Netw. 2016 07; 14(7):820-4.
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Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas. Nat Genet. 2016 06; 48(6):607-16.
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Summary and Recommendations from the National Cancer Institute's Clinical Trials Planning Meeting on Novel Therapeutics for Non-Muscle Invasive Bladder Cancer. Bladder Cancer. 2016 Apr 27; 2(2):165-202.
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Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors. Nat Genet. 2016 06; 48(6):600-606.
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Pharmacogenomic Markers of Targeted Therapy Toxicity in Patients with Metastatic Renal Cell Carcinoma. Eur Urol Focus. 2016 Dec 15; 2(6):633-639.
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Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol. 2016 07; 60:1-12.
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Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep. 2016 Mar 15; 14(10):2476-89.
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Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma. Clin Cancer Res. 2016 05 15; 22(10):2445-2452.
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Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex. J Invest Dermatol. 2016 Feb; 136(2):535-538.
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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov; 11(11):e1005637.
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Invasive Bladder Cancer: Genomic Insights and Therapeutic Promise. Clin Cancer Res. 2015 Oct 15; 21(20):4514-24.
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Brain-expressed X-linked 2 Is Pivotal for Hyperactive Mechanistic Target of Rapamycin (mTOR)-mediated Tumorigenesis. J Biol Chem. 2015 Oct 16; 290(42):25756-65.
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An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers. Nat Genet. 2015 Sep; 47(9):1067-72.
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Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase. Acta Neuropathol Commun. 2015 Jul 30; 3:48.
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The Cancer Genome Atlas Project on Muscle-invasive Bladder Cancer. Eur Urol Focus. 2015 Aug; 1(1):94-95.
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Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model. Neurobiol Dis. 2015 Oct; 82:22-31.
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Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience. J Thorac Oncol. 2015 May; 10(5):768-777.
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Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. Eur J Hum Genet. 2015 Dec; 23(12):1665-72.
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Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5.
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Molecular biology of bladder cancer. Hematol Oncol Clin North Am. 2015 Apr; 29(2):191-203, vii.
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A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Mol Cancer Res. 2015 Mar; 13(3):548-55.
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mTOR Inhibitors in Cancer: What Can We Learn from Exceptional Responses? EBioMedicine. 2015 Jan; 2(1):2-4.
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Rapamycin-resistant poly (ADP-ribose) polymerase-1 overexpression is a potential therapeutic target in lymphangioleiomyomatosis. Am J Respir Cell Mol Biol. 2014 Dec; 51(6):738-49.
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A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet. 2015 Apr 01; 24(7):1836-42.
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Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload. Cardiovasc Pathol. 2015 Mar-Apr; 24(2):80-93.
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Combined CDKN1A/TP53 mutation in bladder cancer is a therapeutic target. . 2015 Jan; 14(1):174-82.
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Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis. PLoS One. 2014; 9(10):e104809.
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Response and acquired resistance to everolimus in anaplastic thyroid cancer. N Engl J Med. 2014 Oct 09; 371(15):1426-33.
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Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. J Exp Med. 2014 Oct 20; 211(11):2249-63.
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Clinicopathologic features and outcomes of patients with lung adenocarcinomas harboring BRAF mutations in the Lung Cancer Mutation Consortium. Cancer. 2015 Feb 01; 121(3):448-56.
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The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 08; 26(3):319-330.
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Molecular basis of giant cells in tuberous sclerosis complex. N Engl J Med. 2014 Aug 21; 371(8):778-80.
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Coordinated regulation of protein synthesis and degradation by mTORC1. Nature. 2014 Sep 18; 513(7518):440-3.
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Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014 Jul; 38(7):895-909.
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Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. JAMA. 2014 May 21; 311(19):1998-2006.
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Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet. 2014 Jul 15; 23(14):3865-74.
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Integrative analysis of 1q23.3 copy-number gain in metastatic urothelial carcinoma. Clin Cancer Res. 2014 Apr 01; 20(7):1873-83.
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Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells. J Exp Med. 2014 Jan 13; 211(1):15-28.
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Autophagy-dependent metabolic reprogramming sensitizes TSC2-deficient cells to the antimetabolite 6-aminonicotinamide. Mol Cancer Res. 2014 Jan; 12(1):48-57.
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Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Hum Mol Genet. 2014 Apr 15; 23(8):2023-9.
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Pivotal role of augmented aB-crystallin in tumor development induced by deficient TSC1/2 complex. Oncogene. 2014 Aug 21; 33(34):4352-8.
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Tsc1-Tp53 loss induces mesothelioma in mice, and evidence for this mechanism in human mesothelioma. Oncogene. 2014 Jun 12; 33(24):3151-60.
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Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J Thorac Oncol. 2013 Jul; 8(7):823-59.
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A biomarker for lymphangioleiomyomatosis. Lancet Respir Med. 2013 Aug; 1(6):424-5.
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Metabolic and functional genomic studies identify deoxythymidylate kinase as a target in LKB1-mutant lung cancer. Cancer Discov. 2013 Aug; 3(8):870-9.
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Stochastic model of Tsc1 lesions in mouse brain. PLoS One. 2013; 8(5):e64224.
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Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J Mol Diagn. 2013 Jul; 15(4):415-53.
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Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value. PLoS One. 2013; 8(4):e60927.
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Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. Arch Pathol Lab Med. 2013 Jun; 137(6):828-60.
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TSC1 involvement in bladder cancer: diverse effects and therapeutic implications. J Pathol. 2013 May; 230(1):17-27.
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Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis. Am J Respir Crit Care Med. 2013 Mar 15; 187(6):663-5.
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Equivalent benefit of rapamycin and a potent mTOR ATP-competitive inhibitor, MLN0128 (INK128), in a mouse model of tuberous sclerosis. Mol Cancer Res. 2013 May; 11(5):467-73.
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Molecular dissection of AKT activation in lung cancer cell lines. Mol Cancer Res. 2013 Mar; 11(3):282-93.
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Targeting molecular aberrations in urothelial carcinoma: are we almost there? Am Soc Clin Oncol Educ Book. 2013; 195-9.
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Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav Genet. 2013 Jan; 43(1):51-9.
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The introduction of systematic genomic testing for patients with non-small-cell lung cancer. J Thorac Oncol. 2012 Dec; 7(12):1767-1774.
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Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: clinical and molecular correlates. Int J Cancer. 2013 Apr 01; 132(7):1711-7.
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Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell. 2012 Sep 14; 150(6):1107-20.
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TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell. 2012 Aug 24; 47(4):535-46.
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Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet. 2012 Oct 01; 21(19):4286-300.
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Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. Oncologist. 2012; 17(7):927-9.
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Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction. Am J Surg Pathol. 2012 May; 36(5):783-4.
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Chronic activation of mTOR complex 1 is sufficient to cause hepatocellular carcinoma in mice. Sci Signal. 2012 Mar 27; 5(217):ra24.
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Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC). PLoS One. 2012; 7(2):e31900.
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Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet. 2012 May; 20(5):510-5.
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Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci U S A. 2011 Nov 08; 108(45):E1070-9.
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Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS One. 2011; 6(9):e24919.
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Therapeutic value of prenatal rapamycin treatment in a mouse brain model of tuberous sclerosis complex. Hum Mol Genet. 2011 Dec 01; 20(23):4597-604.
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Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent. Proc Natl Acad Sci U S A. 2011 Jul 26; 108(30):12455-60.
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Akt stimulates hepatic SREBP1c and lipogenesis through parallel mTORC1-dependent and independent pathways. Cell Metab. 2011 Jul 06; 14(1):21-32.
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Identification of driver mutations in tumor specimens from 1,000 patients with lung adenocarcinoma: The NCI's Lung Cancer Mutation Consortium (LCMC). J Clin Oncol. 2011 Jun 20; 29(18_suppl):CRA7506.
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mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice. J Clin Invest. 2011 Jun; 121(6):2181-96.
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Identification of driver mutations in tumor specimens from 1,000 patients with lung adenocarcinoma: The NCI's Lung Cancer Mutation Consortium (LCMC). J Clin Oncol. 2011 May 20; 29(15_suppl):CRA7506.
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The introduction of systematic genomic testing for patients with non-small cell lung cancer (NSCLC) at Dana-Farber Cancer Institute (DFCI). J Clin Oncol. 2011 May 20; 29(15_suppl):7517.
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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat. 2011 Apr; 32(4):424-35.
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Mammalian target of rapamycin up-regulation of pyruvate kinase isoenzyme type M2 is critical for aerobic glycolysis and tumor growth. Proc Natl Acad Sci U S A. 2011 Mar 08; 108(10):4129-34.
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Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin. Hum Mol Genet. 2011 Apr 01; 20(7):1290-305.
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mTORC1-S6K activation by endotoxin contributes to cytokine up-regulation and early lethality in animals. PLoS One. 2010 Dec 21; 5(12):e14399.
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FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis. Cancer Cell. 2010 Nov 16; 18(5):472-84.
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Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example. ScientificWorldJournal. 2010 Oct 12; 10:2003-18.
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Tuberous sclerosis complex 1: an epithelial tumor suppressor essential to prevent spontaneous prostate cancer in aged mice. Cancer Res. 2010 Nov 01; 70(21):8937-47.
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Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Brain Pathol. 2010 Nov; 20(6):1096-105.
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Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). Lymphat Res Biol. 2010 Mar; 8(1):51-7.
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Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet. 2010 Mar; 127(5):573-82.
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Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor. Oncogene. 2010 Apr 22; 29(16):2346-56.
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Clinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol. 2010 Feb 10; 28(5):835-40.
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Mammalian target of rapamycin regulates murine and human cell differentiation through STAT3/p63/Jagged/Notch cascade. J Clin Invest. 2010 Jan; 120(1):103-14.
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TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. Oncogene. 2010 Mar 18; 29(11):1588-97.
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Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion. J Clin Oncol. 2010 Jan 01; 28(1):e4-6.
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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet. 2009 Sep 11; 10:88.
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Critical roles for the TSC-mTOR pathway in ß-cell function. Am J Physiol Endocrinol Metab. 2009 Nov; 297(5):E1013-22.
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Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol. 2010 Jan; 41(1):1-15.
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Renal and liver tumors in Tsc2(+/-) mice, a model of tuberous sclerosis complex, do not respond to treatment with atorvastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor. . 2009 Jul; 8(7):1799-807.
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Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis. Mol Cancer. 2009 Jun 15; 8:38.
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Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci. 2009 May 06; 29(18):5926-37.
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Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells. Am J Respir Cell Mol Biol. 2010 Feb; 42(2):227-34.
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A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. Hum Mol Genet. 2009 Jul 01; 18(13):2378-87.
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Somatic LKB1 mutations promote cervical cancer progression. PLoS One. 2009; 4(4):e5137.
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Critical role for hypothalamic mTOR activity in energy balance. Cell Metab. 2009 Apr; 9(4):362-74.
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Increased AKT S473 phosphorylation after mTORC1 inhibition is rictor dependent and does not predict tumor cell response to PI3K/mTOR inhibition. . 2009 Apr; 8(4):742-53.
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Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet. 2009 Sep; 17(9):1165-70.
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Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Circ Cardiovasc Genet. 2009 Apr; 2(2):134-41.
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Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet. 2009 Mar; 73(2):141-6.
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mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization. Proc Natl Acad Sci U S A. 2008 Dec 09; 105(49):19384-9.
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New applications and developments in the use of multiplex ligation-dependent probe amplification. Electrophoresis. 2008 Dec; 29(23):4627-36.
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Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circ Cardiovasc Genet. 2008 Oct; 1(1):21-30.
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Tuberous sclerosis complex proteins control axon formation. Genes Dev. 2008 Sep 15; 22(18):2485-95.
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An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med. 2008 Sep; 14(9):979-84.
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Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flap. J Thorac Cardiovasc Surg. 2009 Aug; 138(2):497-8.
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AMP-activated protein kinase signaling results in cytoplasmic sequestration of p27. Cancer Res. 2008 Aug 15; 68(16):6496-506.
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Regulation of endothelial nitric oxide synthase and postnatal angiogenesis by Rac1. Circ Res. 2008 Aug 15; 103(4):360-8.
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Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med. 2008 Aug; 14(8):843-8.
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mTOR-raptor binds and activates SGK1 to regulate p27 phosphorylation. Mol Cell. 2008 Jun 20; 30(6):701-11.
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Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci. 2008 May 21; 28(21):5422-32.
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Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. Am J Hum Genet. 2008 May; 82(5):1185-92.
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Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol. 2008 Apr; 63(4):454-65.
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Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. Genomics. 2008 Feb; 91(2):203-8.
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Intrafamilial phenotypic variability in tuberous sclerosis complex. J Child Neurol. 2007 Dec; 22(12):1348-55.
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Selective inhibition of growth of tuberous sclerosis complex 2 null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activity. Cancer Res. 2007 Oct 15; 67(20):9878-86.
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LKB1 modulates lung cancer differentiation and metastasis. Nature. 2007 Aug 16; 448(7155):807-10.
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A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci. 2007 May 23; 27(21):5546-58.
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Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay. Biotechniques. 2007 May; 42(5):584, 586, 588.
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Atherosclerosis: the path from genomics to therapeutics. J Am Coll Cardiol. 2007 Apr 17; 49(15):1589-1599.
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PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR. J Clin Invest. 2007 Mar; 117(3):730-8.
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Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet. 2007 May; 121(3-4):389-400.
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Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A. 2006 Dec 26; 103(52):19836-41.
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Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol. 2007 Apr; 36(4):398-408.
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Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia. Ann Hum Genet. 2006 Nov; 70(Pt 6):705-16.
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Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol. 2006 Nov; 60(5):528-39.
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Genetic determinants of C-reactive protein in COPD. Eur Respir J. 2006 Dec; 28(6):1156-62.
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Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels. Ann Hum Genet. 2006 Sep; 70(Pt 5):574-86.
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Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels. Ann Hum Genet. 2006 Sep; 70(5):574-586.
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Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics. 2006 Oct; 118(4):e1146-51.
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Requirement of Rac1 in the development of cardiac hypertrophy. Proc Natl Acad Sci U S A. 2006 May 09; 103(19):7432-7.
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Qualitative and quantitative effects of APOE genetic variation on plasma C-reactive protein, LDL-cholesterol, and apoE protein. Genes Immun. 2006 Apr; 7(3):211-9.
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Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor. Mol Biol Cell. 2006 May; 17(5):2377-90.
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Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res. 2006 Mar; 16(3):436-40.
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Platelet-derived growth factor-induced p42/44 mitogen-activated protein kinase activation and cellular growth is mediated by reactive oxygen species in the absence of TSC2/tuberin. Cancer Res. 2005 Dec 01; 65(23):10881-90.
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Magnetic resonance imaging and characterization of spontaneous lesions in a transgenic mouse model of tuberous sclerosis as a model for endothelial cell-based transgene delivery. Hum Gene Ther. 2005 Dec; 16(12):1367-76.
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Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation. J Child Neurol. 2005 Dec; 20(12):988-9.
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Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci. 2005 Dec; 8(12):1727-34.
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Association of common CRP gene variants with CRP levels and cardiovascular events. Ann Hum Genet. 2005 Nov; 69(Pt 6):623-38.
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Arp2/3 complex-deficient mouse fibroblasts are viable and have normal leading-edge actin structure and function. Proc Natl Acad Sci U S A. 2005 Nov 08; 102(45):16263-8.
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Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet. 2005 Oct 15; 14 Spec No. 2:R251-8.
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Analysis of IL10 haplotypic associations with severe malaria. Genes Immun. 2005 Sep; 6(6):462-6.
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Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology. 2005 Jul 26; 65(2):235-8.
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Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2. Genes Dev. 2005 Aug 01; 19(15):1773-8.
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Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target. Am J Respir Cell Mol Biol. 2005 Sep; 33(3):227-30.
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TSC1, TSC2, TSC3? Or mosaicism? Eur J Hum Genet. 2005 Jun; 13(6):695-6.
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Investigation of malaria susceptibility determinants in the IFNG/IL26/IL22 genomic region. Genes Immun. 2005 Jun; 6(4):312-8.
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Mechanisms of gelsolin-dependent and -independent EGF-stimulated cell motility in a human lung epithelial cell line. Exp Cell Res. 2005 Jul 01; 307(1):153-63.
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Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Am J Respir Cell Mol Biol. 2005 Jul; 33(1):71-8.
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Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. Cancer Res. 2005 Mar 15; 65(6):2474-81.
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Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models. Genes Chromosomes Cancer. 2005 Mar; 42(3):213-27.
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Association of defensin beta-1 gene polymorphisms with asthma. J Allergy Clin Immunol. 2005 Feb; 115(2):252-8.
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A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes. Hum Mol Genet. 2005 Feb 01; 14(3):429-35.
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Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol. 2004 Dec; 63(12):1236-42.
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Catalytic asymmetric allylation of ketones and a tandem asymmetric allylation/diastereoselective epoxidation of cyclic enones. J Am Chem Soc. 2004 Oct 06; 126(39):12580-5.
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Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma. Genes Immun. 2004 Aug; 5(5):343-6.
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Identification of a transcriptional profile associated with in vitro invasion in non-small cell lung cancer cell lines. . 2004 Jul; 3(7):624-31.
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TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples. Am J Respir Crit Care Med. 2004 Sep 15; 170(6):594-600.
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The transforming growth factor-beta1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Hum Mol Genet. 2004 Aug 01; 13(15):1649-56.
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ADAM33 polymorphisms and phenotype associations in childhood asthma. J Allergy Clin Immunol. 2004 Jun; 113(6):1071-8.
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Perturbed IFN-gamma-Jak-signal transducers and activators of transcription signaling in tuberous sclerosis mouse models: synergistic effects of rapamycin-IFN-gamma treatment. Cancer Res. 2004 May 15; 64(10):3436-43.
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Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. J Med Genet. 2004 May; 41(5):e69.
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Genetic predisposition to wheeze following respiratory syncytial virus bronchiolitis. Clin Exp Allergy. 2004 May; 34(5):801-3.
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No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample. Thorax. 2004 Apr; 59(4):291-4.
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Estrogen-induced smooth muscle cell growth is regulated by tuberin and associated with altered activation of platelet-derived growth factor receptor-beta and ERK-1/2. J Biol Chem. 2004 May 28; 279(22):23114-22.
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Antimitogenic effects of HDL and APOE mediated by Cox-2-dependent IP activation. J Clin Invest. 2004 Feb; 113(4):609-18.
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IL10 gene polymorphisms are associated with asthma phenotypes in children. Genet Epidemiol. 2004 Feb; 26(2):155-65.
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Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. J Child Neurol. 2004 Feb; 19(2):102-6.
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Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies. Am J Hum Genet. 2004 Feb; 74(2):208-22.
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Neuronal gelsolin prevents apoptosis by enhancing actin depolymerization. Mol Cell Neurosci. 2004 Jan; 25(1):69-82.
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Gelsolin mediates collagen phagocytosis through a rac-dependent step. Mol Biol Cell. 2004 Feb; 15(2):588-99.
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Family-based association analysis of beta2-adrenergic receptor polymorphisms in the childhood asthma management program. J Allergy Clin Immunol. 2003 Nov; 112(5):870-6.
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A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation. Ann Hum Genet. 2003 Nov; 67(Pt 6):495-503.
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Hematopoietic cell regulation by Rac1 and Rac2 guanosine triphosphatases. Science. 2003 Oct 17; 302(5644):445-9.
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Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR. J Clin Invest. 2003 Oct; 112(8):1223-33.
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Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin. Cancer Res. 2003 Sep 01; 63(17):5173-7.
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Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis. . 2003 Sep-Oct; 2(5):471-6.
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Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes. Hum Mol Genet. 2003 Aug 15; 12(16):1973-9.
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A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation. Neurology. 2003 Aug 12; 61(3):409-12.
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Rac1 deletion in mouse neutrophils has selective effects on neutrophil functions. J Immunol. 2003 Jun 01; 170(11):5652-7.
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Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia. Genes Immun. 2003 Jun; 4(4):275-82.
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Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. Lancet. 2003 Apr 19; 361(9366):1348-9.
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Pulmonary vascular permeability and ischemic injury in gelsolin-deficient mice. Am J Respir Cell Mol Biol. 2003 Apr; 28(4):478-84.
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Tuberous sclerosis: from tubers to mTOR. Ann Hum Genet. 2003 Jan; 67(Pt 1):87-96.
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Single-nucleotide polymorphisms in the Toll-like receptor 9 gene (TLR9): frequencies, pairwise linkage disequilibrium, and haplotypes in three U.S. ethnic groups and exploratory case-control disease association studies. Genomics. 2003 Jan; 81(1):85-91.
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Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human disease. Immunol Rev. 2002 Dec; 190:9-25.
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Tsc2 null murine neuroepithelial cells are a model for human tuber giant cells, and show activation of an mTOR pathway. Mol Cell Neurosci. 2002 Dec; 21(4):561-74.
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Polymorphisms in toll-like receptor 4 are not associated with asthma or atopy-related phenotypes. Am J Respir Crit Care Med. 2002 Dec 01; 166(11):1449-56.
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Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci U S A. 2002 Oct 15; 99(21):13571-6.
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Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. Ann Neurol. 2002 Sep; 52(3):285-96.
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Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. Am J Hum Genet. 2002 Oct; 71(4):750-8.
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CD40L association with protection from severe malaria. Genes Immun. 2002 Aug; 3(5):286-91.
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Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups. Genomics. 2002 Aug; 80(2):223-8.
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Role of the Tsc1-Tsc2 complex in signaling and transport across the cell membrane in the fission yeast Schizosaccharomyces pombe. Genetics. 2002 Jul; 161(3):1053-63.
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Association of accelerated erosive rheumatoid arthritis with a polymorphism that alters NF-kappaB binding to the TNF promoter region. Rheumatology (Oxford). 2002 Jul; 41(7):830-1.
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SNP identification, haplotype analysis, and parental origin of mutations in TSC2. Hum Genet. 2002 Jul; 111(1):96-101.
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Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells. Oncogene. 2002 Jun 06; 21(25):4050-9.
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Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM). J Biol Chem. 2002 Aug 23; 277(34):30958-67.
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Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet. 2002 May; 70(5):1229-39.
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Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. Hum Mol Genet. 2002 Mar 15; 11(6):623-32.
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A phase I clinical trial of sequentially administered doxorubicin and topotecan in refractory solid tumors. Clin Cancer Res. 2002 Mar; 8(3):691-7.
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Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis. Chest. 2002 Mar; 121(3 Suppl):61S.
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Rapid turnover of actin in dendritic spines and its regulation by activity. Nat Neurosci. 2002 Mar; 5(3):239-46.
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A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. Hum Mol Genet. 2002 Mar 01; 11(5):525-34.
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Interaction of AP-1 with a cluster of NF-kappa B binding elements in the human TNF promoter region. Biochem Biophys Res Commun. 2001 Nov 23; 289(1):25-33.
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Antimalarial antibody levels and IL4 polymorphism in the Fulani of West Africa. Genes Immun. 2001 Nov; 2(7):411-4.
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Nucleotide diversity of the TNF gene region in an African village. Genes Immun. 2001 Oct; 2(6):343-8.
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Comparisons of CapG and gelsolin-null macrophages: demonstration of a unique role for CapG in receptor-mediated ruffling, phagocytosis, and vesicle rocketing. J Cell Biol. 2001 Aug 20; 154(4):775-84.
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Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med. 2001 Aug 15; 164(4):661-8.
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Gelsolin as a negative prognostic factor and effector of motility in erbB-2-positive epidermal growth factor receptor-positive breast cancers. Clin Cancer Res. 2001 Aug; 7(8):2415-24.
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Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet. 2001 Sep; 69(3):493-503.
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Unusual haplotypic structure of IL8, a susceptibility locus for a common respiratory virus. Am J Hum Genet. 2001 Aug; 69(2):413-9.
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Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1. Curr Opin Neurol. 2001 Apr; 14(2):163-9.
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Profilin I is essential for cell survival and cell division in early mouse development. Proc Natl Acad Sci U S A. 2001 Mar 27; 98(7):3832-6.
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Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. J Biochem Biophys Methods. 2001 Jan 30; 47(1-2):33-7.
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Bronchioloalveolar carcinoma of the lung: recurrences and survival in patients with stage I disease. J Thorac Cardiovasc Surg. 2001 Jan; 121(1):42-7.
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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001 Jan; 68(1):64-80.
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Association of respiratory syncytial virus bronchiolitis with the interleukin 8 gene region in UK families. Thorax. 2000 Dec; 55(12):1023-7.
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Functional consequences of a polymorphism affecting NF-kappaB p50-p50 binding to the TNF promoter region. Mol Cell Biol. 2000 Dec; 20(24):9113-9.
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Alternative splicing of the mouse profilin II gene generates functionally different profilin isoforms. J Cell Sci. 2000 Nov; 113 Pt 21:3795-803.
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Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination. J Med Genet. 2000 Nov; 37(11):877-83.
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The mouse mammary gland requires the actin-binding protein gelsolin for proper ductal morphogenesis. Dev Biol. 2000 Sep 15; 225(2):407-23.
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Molecular genetic advances in tuberous sclerosis. Hum Genet. 2000 Aug; 107(2):97-114.
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Survey of the allelic frequency of a NOS2A promoter microsatellite in human populations: assessment of the NOS2A gene and predisposition to infectious disease. Nitric Oxide. 2000 Aug; 4(4):379-83.
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Malaria susceptibility and CD36 mutation. Nature. 2000 Jun 29; 405(6790):1015-6.
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Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability. Curr Biol. 2000 Jun 29; 10(13):758-65.
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Failure of gelsolin overexpression to regulate lymphocyte apoptosis. Blood. 2000 Jun 01; 95(11):3483-8.
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Calcium regulation of gelsolin and adseverin: a natural test of the helix latch hypothesis. Biochemistry. 2000 May 09; 39(18):5274-9.
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Gelsolin deficiency blocks podosome assembly and produces increased bone mass and strength. J Cell Biol. 2000 Feb 21; 148(4):665-78.
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Gelsolin in complex with phosphatidylinositol 4,5-bisphosphate inhibits caspase-3 and -9 to retard apoptotic progression. J Biol Chem. 2000 Feb 11; 275(6):3761-6.
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Role of gelsolin in the actin filament regulation of cardiac L-type calcium channels. Am J Physiol. 1999 12; 277(6):C1277-83.
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Membrane ruffling, macropinocytosis and antigen presentation in the absence of gelsolin in murine dendritic cells. Eur J Immunol. 1999 11; 29(11):3450-5.
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Accuracy of genotyping of single-nucleotide polymorphisms by PCR-ELISA allele-specific oligonucleotide hybridization typing and by amplification refractory mutation system. Clin Chem. 1999 Oct; 45(10):1860-3.
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Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. J Clin Invest. 1999 Sep; 104(6):687-95.
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Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann Hum Genet. 1999 Sep; 63(Pt 5):383-91.
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Early cytokine induction by Plasmodium falciparum is not a classical endotoxin-like process. Eur J Immunol. 1999 08; 29(8):2636-44.
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Differential developmentally regulated expression of gelsolin family members in the mouse. Dev Dyn. 1999 Aug; 215(4):297-307.
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Mannose-binding lectin and meningococcal disease. Lancet. 1999 Jul 24; 354(9175):336; author reply 337.
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Functional consequences of amyloidosis mutation for gelsolin polypeptide -- analysis of gelsolin-actin interaction and gelsolin processing in gelsolin knock-out fibroblasts. FEBS Lett. 1999 Jul 09; 454(3):233-9.
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The spontaneous coat color mutant white nose (wn) maps to murine chromosome 15. Mamm Genome. 1999 Jul; 10(7):750-2.
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Inherited variability of tumor necrosis factor production and susceptibility to infectious disease. Proc Assoc Am Physicians. 1999 Jul-Aug; 111(4):290-8.
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A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nat Genet. 1999 Jun; 22(2):145-50.
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Similarities and differences between human and murine TNF promoters in their response to lipopolysaccharide. J Immunol. 1999 Apr 01; 162(7):4045-52.
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Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. N Engl J Med. 1999 Mar 04; 340(9):703-7.
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Functions of gelsolin: motility, signaling, apoptosis, cancer. Curr Opin Cell Biol. 1999 Feb; 11(1):103-8.
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Mena is required for neurulation and commissure formation. Neuron. 1999 Feb; 22(2):313-25.
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Neuroprotective effects of gelsolin during murine stroke. J Clin Invest. 1999 Feb; 103(3):347-54.
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Cell crawling two decades after Abercrombie. Biochem Soc Symp. 1999; 65:267-80.
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Induction of apoptosis by gelsolin truncates. Ann N Y Acad Sci. 1999; 886:217-20.
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Cell motility as a prognostic factor in Stage I nonsmall cell lung carcinoma: the role of gelsolin expression. Cancer. 1999 Jan 01; 85(1):47-57.
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Severe malarial anemia and cerebral malaria are associated with different tumor necrosis factor promoter alleles. J Infect Dis. 1999 Jan; 179(1):287-90.
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The actin-binding proteins adseverin and gelsolin are both highly expressed but differentially localized in kidney and intestine. J Cell Sci. 1998 Dec 18; 111 ( Pt 24):3633-43.
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Variable major lipoprotein is a principal TNF-inducing factor of louse-borne relapsing fever. Nat Med. 1998 Dec; 4(12):1416-20.
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Caspase-3-induced gelsolin fragmentation contributes to actin cytoskeletal collapse, nucleolysis, and apoptosis of vascular smooth muscle cells exposed to proinflammatory cytokines. Eur J Cell Biol. 1998 Dec; 77(4):294-302.
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1,25-Dihydroxyvitamin D3 induces nitric oxide synthase and suppresses growth of Mycobacterium tuberculosis in a human macrophage-like cell line. Infect Immun. 1998 Nov; 66(11):5314-21.
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Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. Ann Hum Genet. 1998 Nov; 62(Pt 6):491-504.
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Inducible nitric oxide synthase polymorphism and fatal cerebral malaria. Lancet. 1998 Oct 10; 352(9135):1193-4.
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Complex NF-kappaB interactions at the distal tumor necrosis factor promoter region in human monocytes. J Biol Chem. 1998 Aug 14; 273(33):21178-86.
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Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members. J Biol Chem. 1998 Aug 07; 273(32):20535-9.
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Advillin (p92): a new member of the gelsolin/villin family of actin regulatory proteins. J Cell Sci. 1998 Aug; 111 ( Pt 15):2129-36.
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Gelsolin, a protein that caps the barbed ends and severs actin filaments, enhances the actin-based motility of Listeria monocytogenes in host cells. Infect Immun. 1998 Aug; 66(8):3775-82.
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Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. Mod Pathol. 1998 Jul; 11(7):665-8.
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Molecular pathologic substaging in 244 stage I non-small-cell lung cancer patients: clinical implications. J Clin Oncol. 1998 Jul; 16(7):2468-77.
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Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. Ann Hum Genet. 1998 Jul; 62(Pt 4):277-85.
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Absence of an association between intercellular adhesion molecule 1, complement receptor 1 and interleukin 1 receptor antagonist gene polymorphisms and severe malaria in a West African population. Trans R Soc Trop Med Hyg. 1998 May-Jun; 92(3):312-6.
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Probing the phosphoinositide 4,5-bisphosphate binding site of human profilin I. Chem Biol. 1998 May; 5(5):273-81.
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Gelsolin is a downstream effector of rac for fibroblast motility. EMBO J. 1998 Mar 02; 17(5):1362-70.
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EGF receptor regulation of cell motility: EGF induces disassembly of focal adhesions independently of the motility-associated PLCgamma signaling pathway. J Cell Sci. 1998 Mar; 111 ( Pt 5):615-24.
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Association of malaria parasite population structure, HLA, and immunological antagonism. Science. 1998 Feb 20; 279(5354):1173-7.
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Mannose binding protein deficiency is not associated with malaria, hepatitis B carriage nor tuberculosis in Africans. QJM. 1998 Jan; 91(1):13-8.
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Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am J Pathol. 1997 Dec; 151(6):1639-47.
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The actin-severing protein gelsolin modulates calcium channel and NMDA receptor activities and vulnerability to excitotoxicity in hippocampal neurons. J Neurosci. 1997 Nov 01; 17(21):8178-86.
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Caspase-3-generated fragment of gelsolin: effector of morphological change in apoptosis. Science. 1997 Oct 10; 278(5336):294-8.
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The role of genomics in studying genetic susceptibility to infectious disease. Genome Res. 1997 Oct; 7(10):967-73.
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Delayed retraction of filopodia in gelsolin null mice. J Cell Biol. 1997 Sep 22; 138(6):1279-87.
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Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1. Genomics. 1997 Sep 15; 44(3):350-4.
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Characterization of gelsolin truncates that inhibit actin depolymerization by severing activity of gelsolin and cofilin. Eur J Biochem. 1997 Sep 15; 248(3):834-9.
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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997 Aug 08; 277(5327):805-8.
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Tumor necrosis factor promoter polymorphism and susceptibility to lepromatous leprosy. J Infect Dis. 1997 Aug; 176(2):530-2.
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Ifosfamide/carboplatin/etoposide/paclitaxel in advanced lung cancer: update and preliminary survival analysis. Semin Oncol. 1997 Aug; 24(4 Suppl 12):S12-73-S12-80.
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Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1. Ann Hum Genet. 1997 Jul; 61(Pt 4):299-305.
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Residual neurologic sequelae after childhood cerebral malaria. J Pediatr. 1997 Jul; 131(1 Pt 1):125-9.
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Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996. Ann Hum Genet. 1997 May; 61(Pt 3):183-206.
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Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet. 1997 Jan; 60(1):133-42.
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Genomic organization and chromosomal location of murine Cdc42. Genomics. 1996 Nov 15; 38(1):13-8.
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Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol. 1996 Oct; 149(4):1201-8.
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Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet. 1996 Aug; 59(2):400-6.
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A trial of artemether or quinine in children with cerebral malaria. N Engl J Med. 1996 Jul 11; 335(2):69-75.
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Coordinated regulation of platelet actin filament barbed ends by gelsolin and capping protein. J Cell Biol. 1996 Jul; 134(2):389-99.
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Circulating ICAM-1 levels in falciparum malaria are high but unrelated to disease severity. Trans R Soc Trop Med Hyg. 1996 May-Jun; 90(3):274-6.
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In vitro induction of nitric oxide by an extract of Plasmodium falciparum. J Infect. 1996 May; 32(3):187-96.
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Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet. 1996 Feb; 5(2):249-56.
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C-reactive protein and haptoglobin in the evaluation of a community-based malaria control programme. Trans R Soc Trop Med Hyg. 1996 Jan-Feb; 90(1):10-4.
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Regional localization of 64 cosmid contigs, including 18 genes and 14 markers, to intervals on human chromosome 9q34. Genomics. 1995 Sep 01; 29(1):257-60.
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A phase I study of ifosfamide/carboplatin/etoposide/paclitaxel in advanced lung cancer. Semin Oncol. 1995 Aug; 22(4 Suppl 9):70-4.
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Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer. 1995 Aug; 13(4):295-8.
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A 37-marker PCR-based genetic linkage map of human chromosome 9: observations on mutations and positive interference. Genomics. 1995 Jul 20; 28(2):140-6.
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Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature. 1995 Jul 20; 376(6537):246-9.
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A 5.4-Mb continuous pulsed-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region. Genomics. 1995 Jul 01; 28(1):105-8.
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Distinct biochemical characteristics of the two human profilin isoforms. Eur J Biochem. 1995 May 01; 229(3):621-8.
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Molecular and pathologic markers in stage I non-small-cell carcinoma of the lung. J Clin Oncol. 1995 May; 13(5):1265-79.
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Functions of [His321]gelsolin isolated from a flat revertant of ras-transformed cells. Eur J Biochem. 1995 May 01; 229(3):615-20.
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Association between an MHC class II allele and clearance of hepatitis B virus in the Gambia. N Engl J Med. 1995 Apr 20; 332(16):1065-9.
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Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin. Cell. 1995 Apr 07; 81(1):41-51.
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Clinical, neuropathological and genetic aspects of the tuberous sclerosis complex. Brain Pathol. 1995 Apr; 5(2):173-9.
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Association of hepatitis B surface antigen carriage with severe malaria in Gambian children. Nat Med. 1995 Apr; 1(4):374-5.
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Potential location of a bladder tumor suppressor gene on chromosome 9q at 9q13 to 9q22.1. Urol Oncol. 1995 Mar-Apr; 1(2):88-92.
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COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Genomics. 1995 Feb 10; 25(3):737-9.
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Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1. Ann Hum Genet. 1995 01; 59(1):25-37.
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Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34. Eur J Hum Genet. 1995; 3(2):78-86.
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A monoclonal antibody that recognizes phosphatidylinositol inhibits induction of tumor necrosis factor alpha by different strains of Plasmodium falciparum. Infect Immun. 1994 Dec; 62(12):5261-6.
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Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature. 1994 Oct 06; 371(6497):508-10.
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The human actin-regulatory protein cap G: gene structure and chromosome location. Genomics. 1994 Oct; 23(3):560-5.
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Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994. Ann Hum Genet. 1994 07; 58(3):177-250.
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Parasite virulence and disease patterns in Plasmodium falciparum malaria. Proc Natl Acad Sci U S A. 1994 Apr 26; 91(9):3715-9.
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Tuberous sclerosis. Arch Dermatol. 1994 Mar; 130(3):348-54.
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An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet. 1993 Dec; 53(6):1279-88.
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A high-resolution linkage map of human 9q34.1. Genomics. 1993 Sep; 17(3):587-91.
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Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28. Genomics. 1993 Aug; 17(2):496-8.
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Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199). Hum Mol Genet. 1993 May; 2(5):614.
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Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1). J Med Genet. 1993 Mar; 30(3):224-7.
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Anti-TNF therapy inhibits fever in cerebral malaria. Q J Med. 1993 Feb; 86(2):91-8.
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Suppression of tumorigenicity in simian virus 40-transformed 3T3 cells transfected with alpha-actinin cDNA. Proc Natl Acad Sci U S A. 1993 Jan 15; 90(2):383-7.
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Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenet Cell Genet. 1993; 64(2):93-121.
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Dinucleotide repeat polymorphism at the IFNA locus (9p22). Hum Mol Genet. 1992 Nov; 1(8):658.
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A genetic linkage map of human chromosome 9q. Genomics. 1992 Nov; 14(3):715-20.
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Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. Am J Hum Genet. 1992 Oct; 51(4):709-20.
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Systemic cytokine response after major surgery. Br J Surg. 1992 Aug; 79(8):757-60.
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Report and abstracts of the First International Workshop on Chromosome 9. Held at Girton College Cambridge, UK, 22-24 March, 1992. Ann Hum Genet. 1992 07; 56(3):167-82.
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Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I. Am J Hum Genet. 1992 Jul; 51(1):156-60.
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A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34. Genomics. 1992 Jul; 13(3):841-4.
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Rosette formation in Plasmodium falciparum isolates and anti-rosette activity of sera from Gambians with cerebral or uncomplicated malaria. Am J Trop Med Hyg. 1992 May; 46(5):503-10.
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Extensive genetic diversity in the HLA class II region of Africans, with a focally predominant allele, DRB1*1304. Proc Natl Acad Sci U S A. 1992 Mar 15; 89(6):2277-81.
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In vivo analysis of functional domains from villin and gelsolin. J Cell Biol. 1992 Mar; 116(5):1145-55.
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Tumor necrosis factor in septicemic melioidosis. J Infect Dis. 1992 Mar; 165(3):561-4.
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Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet. 1992 Mar; 50(3):619-28.
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Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):930.
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Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932.
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Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):933.
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Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):933.
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Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):930.
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Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932.
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Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931.
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Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931.
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Construction of a GT polymorphism map of human 9q. Genomics. 1992 Feb; 12(2):229-40.
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Interethnic genetic differentiation in Africa: HLA class I antigens in The Gambia. Am J Hum Genet. 1992 Feb; 50(2):411-21.
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Actin-binding protein requirement for cortical stability and efficient locomotion. Science. 1992 Jan 17; 255(5042):325-7.
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Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet. 1991 Oct; 49(4):764-72.
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Cytokines and anti-disease immunity to malaria. Res Immunol. 1991 Oct; 142(8):707-12.
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Common west African HLA antigens are associated with protection from severe malaria. Nature. 1991 Aug 15; 352(6336):595-600.
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Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet. 1991 Aug; 49(2):366-71.
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HLA class I typing by PCR: HLA-B27 and an African B27 subtype. Lancet. 1991 Mar 16; 337(8742):640-2.
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Enhanced motility in NIH 3T3 fibroblasts that overexpress gelsolin. Science. 1991 Mar 08; 251(4998):1233-6.
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Dinucleotide repeat polymorphism at the GSN locus (9q32-34). Nucleic Acids Res. 1991 Feb 25; 19(4):967.
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Dinucleotide repeat polymorphism at the ABL locus (9q34). Nucleic Acids Res. 1991 Feb 25; 19(4):967.
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Actin-binding proteins. Curr Opin Cell Biol. 1991 Feb; 3(1):87-97.
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Sequence analysis of HLA-Bw53, a common West African allele, suggests an origin by gene conversion of HLA-B35. Hum Immunol. 1991 Feb; 30(2):105-9.
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Clinical findings and linkage studies in familial tuberous sclerosis. Ann N Y Acad Sci. 1991; 615:380-1.
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Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am J Hum Genet. 1991 Jan; 48(1):121-8.
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TNF concentration in fatal cerebral, non-fatal cerebral, and uncomplicated Plasmodium falciparum malaria. Lancet. 1990 Nov 17; 336(8725):1201-4.
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Neurological sequelae of cerebral malaria in children. Lancet. 1990 Oct 27; 336(8722):1039-43.
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Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. J Cell Biol. 1990 Sep; 111(3):1089-105.
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Two soluble antigens of Plasmodium falciparum induce tumor necrosis factor release from macrophages. Infect Immun. 1990 Sep; 58(9):2923-8.
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Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene. Am J Hum Genet. 1990 Jul; 47(1):62-72.
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Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome. Am J Hum Genet. 1990 Mar; 46(3):559-67.
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Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol. 1990 Feb; 27(2):114-20.
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Open comparison of intramuscular chloroquine and quinine in children with severe chloroquine-sensitive falciparum malaria. Lancet. 1989 Dec 02; 2(8675):1313-6.
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Association of profilin with filament-free regions of human leukocyte and platelet membranes and reversible membrane binding during platelet activation. J Cell Biol. 1989 Oct; 109(4 Pt 1):1571-9.
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Why is malaria fever periodic? A hypothesis. Parasitol Today. 1989 Aug; 5(8):264-6.
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The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs. Nucleic Acids Res. 1989 Jun 12; 17(11):4425.
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Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron. 1989 May; 2(5):1427-34.
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Identification of critical functional and regulatory domains in gelsolin. J Cell Biol. 1989 May; 108(5):1717-26.
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Expression of gelsolin by Cos cell secretion. Cell Motil Cytoskeleton. 1989; 14(1):21-5.
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Febrile temperatures can synchronize the growth of Plasmodium falciparum in vitro. J Exp Med. 1989 Jan 01; 169(1):357-61.
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Predominant induction of gelsolin and actin-binding protein during myeloid differentiation. J Biol Chem. 1988 Sep 25; 263(27):13857-62.
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Muscle is the major source of plasma gelsolin. J Biol Chem. 1988 Jun 15; 263(17):8239-43.
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Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis. J Biol Chem. 1988 Apr 25; 263(12):5910-5.
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Localization of gelsolin proximal to ABL on chromosome 9. Am J Hum Genet. 1988 Apr; 42(4):565-72.
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Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin. J Cell Biol. 1988 Feb; 106(2):375-84.
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Interleukin-1 beta in human plasma: optimization of blood collection, plasma extraction, and radioimmunoassay methods. Lymphokine Res. 1988; 7(4):457-67.
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A phase II trial of cyclophosphamide, etoposide, and cisplatin with combined chest and brain radiotherapy in limited small-cell lung cancer: a Cancer and Leukemia Group B Study. J Clin Oncol. 1987 Dec; 5(12):1874-9.
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Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4. J Biol Chem. 1987 Jul 25; 262(21):10065-71.
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Molecular biology of gelsolin, a calcium-regulated actin filament severing protein. Biorheology. 1987; 24(6):643-7.
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Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain. Nature. 1986 Oct 2-8; 323(6087):455-8.
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Isolation and properties of two actin-binding domains in gelsolin. J Biol Chem. 1985 Dec 05; 260(28):15232-8.
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Peripheral neuropathy, high serum IgM, and paraproteinemia in mother and son. Neurology. 1985 May; 35(5):679-83.
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Nonmuscle actin-binding proteins. Annu Rev Cell Biol. 1985; 1:353-402.
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Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin. J Biol Chem. 1984 Apr 25; 259(8):5271-6.
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A note on the effect of dithiothreitol (DTT) on the depolarization of isolated sympathetic ganglia by carbachol and bromo-acetylcholine. Br J Pharmacol. 1976 Jan; 56(1):128-30.
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