David J. Kwiatkowski, MD, PhD

Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group. Nat Rev Nephrol. 2024 Mar 05. View in: Pubmed

Phase II Trial of nab-Sirolimus in Patients With Advanced Malignant Perivascular Epithelioid Cell Tumors (AMPECT): Long-Term Efficacy and Safety Update. J Clin Oncol. 2024 Mar 01; JCO2302266. View in: Pubmed

Benchmarking mismatch repair testing for patients with cancer receiving immunotherapy. Cancer Cell. 2024 Feb 12; 42(2):323. View in: Pubmed

Influence of TP53 Comutation on the Tumor Immune Microenvironment and Clinical Outcomes With Immune Checkpoint Inhibitors in STK11-Mutant Non-Small-Cell Lung Cancer. JCO Precis Oncol. 2024 Feb; 8:e2300371. View in: Pubmed

Consolidation Osimertinib Versus Durvalumab Versus Observation After Concurrent Chemoradiation in Unresectable EGFR-Mutant NSCLC: A Multicenter Retrospective Cohort Study. J Thorac Oncol. 2024 Jan 24. View in: Pubmed

Author Correction: Neoadjuvant atezolizumab for resectable non-small cell lung cancer: an open-label, single-arm phase II trial. Nat Med. 2024 Jan; 30(1):303. View in: Pubmed

Benchmarking mismatch repair testing for patients with cancer receiving immunotherapy. Cancer Cell. 2024 01 08; 42(1):6-7. View in: Pubmed

Artificial Intelligence-Powered Assessment of Pathologic Response to Neoadjuvant Atezolizumab in Patients With NSCLC: Results From the LCMC3 Study. J Thorac Oncol. 2023 Dec 07. View in: Pubmed

Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years. Nat Commun. 2023 Nov 23; 14(1):7664. View in: Pubmed

Bi-steric mTORC1 inhibitors induce apoptotic cell death in tumor models with hyperactivated mTORC1. J Clin Invest. 2023 11 01; 133(21). View in: Pubmed

MRTX1719 Is an MTA-Cooperative PRMT5 Inhibitor That Exhibits Synthetic Lethality in Preclinical Models and Patients with MTAP-Deleted Cancer. Cancer Discov. 2023 11 01; 13(11):2412-2431. View in: Pubmed

Enzyme-mediated depletion of methylthioadenosine restores T cell function in MTAP-deficient tumors and reverses immunotherapy resistance. Cancer Cell. 2023 10 09; 41(10):1774-1787.e9. View in: Pubmed

High-dose IV magnesium in mesothelioma patients receiving surgery with hyperthermic intraoperative cisplatin: Pilot studies and design of a phase II randomized clinical trial. J Surg Oncol. 2023 Dec; 128(7):1141-1149. View in: Pubmed

TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas. Histopathology. 2023 Oct; 83(4):569-581. View in: Pubmed

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex. Am J Hum Genet. 2023 06 01; 110(6):979-988. View in: Pubmed

Machine learning-based immune phenotypes correlate with STK11/KEAP1 co-mutations and prognosis in resectable NSCLC: a sub-study of the TNM-I trial. Ann Oncol. 2023 07; 34(7):578-588. View in: Pubmed

mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion. Nat Commun. 2023 03 03; 14(1):1214. View in: Pubmed

Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex. Front Genet. 2022; 13:917993. View in: Pubmed

Epigenomic charting and functional annotation of risk loci in renal cell carcinoma. Nat Commun. 2023 01 21; 14(1):346. View in: Pubmed

Features of tumor-microenvironment images predict targeted therapy survival benefit in patients with EGFR-mutant lung cancer. J Clin Invest. 2023 01 17; 133(2). View in: Pubmed

Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings. JID Innov. 2023 Mar; 3(2):100180. View in: Pubmed

Association of Machine Learning-Based Assessment of Tumor-Infiltrating Lymphocytes on Standard Histologic Images With Outcomes of Immunotherapy in Patients With NSCLC. JAMA Oncol. 2023 01 01; 9(1):51-60. View in: Pubmed

Reciprocal effects of mTOR inhibitors on pro-survival proteins dictate therapeutic responses in tuberous sclerosis complex. iScience. 2022 Nov 18; 25(11):105458. View in: Pubmed

Surgical results of the Lung Cancer Mutation Consortium 3 trial: A phase II multicenter single-arm study to investigate the efficacy and safety of atezolizumab as neoadjuvant therapy in patients with stages IB-select IIIB resectable non-small cell lung cancer. J Thorac Cardiovasc Surg. 2023 03; 165(3):828-839.e5. View in: Pubmed

Ancestry-driven recalibration of tumor mutational burden and disparate clinical outcomes in response to immune checkpoint inhibitors. Cancer Cell. 2022 10 10; 40(10):1161-1172.e5. View in: Pubmed

Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Sci Rep. 2022 Sep 14; 12(1):15457. View in: Pubmed

Neoadjuvant atezolizumab for resectable non-small cell lung cancer: an open-label, single-arm phase II trial. Nat Med. 2022 10; 28(10):2155-2161. View in: Pubmed

Lymphangioleiomyomatosis (LAM) Cell Atlas. Thorax. 2023 01; 78(1):85-87. View in: Pubmed

Procedural Outcomes of Pulmonary Atresia With Intact Ventricular Septum in Neonates: A Multicenter Study. Ann Thorac Surg. 2023 06; 115(6):1470-1477. View in: Pubmed

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. Annu Rev Genomics Hum Genet. 2022 08 31; 23:331-361. View in: Pubmed

Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes. Clin Genitourin Cancer. 2022 Dec; 20(6):568-574. View in: Pubmed

Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and an immune-suppressive microenvironment. Nat Commun. 2022 08 26; 13(1):5018. View in: Pubmed

miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex. Biomedicines. 2022 Jul 29; 10(8). View in: Pubmed

Pulmonary Atresia with Intact Ventricular Septum: Midterm Outcomes from a Multicenter Cohort. Pediatr Cardiol. 2024 Apr; 45(4):847-857. View in: Pubmed

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex. J Clin Invest. 2022 05 16; 132(10). View in: Pubmed

Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology. Genome Med. 2022 04 15; 14(1):39. View in: Pubmed

Biomarker-Based Phase II Study of Sapanisertib (TAK-228): An mTORC1/2 Inhibitor in Patients With Refractory Metastatic Renal Cell Carcinoma. JCO Precis Oncol. 2022 02; 6:e2100448. View in: Pubmed

Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex. Neurology. 2022 03 22; 98(12):e1216-e1225. View in: Pubmed

Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function. ERJ Open Res. 2022 Jan; 8(1). View in: Pubmed

Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period. J Neurodev Disord. 2022 01 15; 14(1):8. View in: Pubmed

Standardized Training for Physicians Practicing Pediatric Cardiac Critical Care. Pediatr Crit Care Med. 2022 01 01; 23(1):60-64. View in: Pubmed

CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer. Br J Cancer. 2022 03; 126(5):797-803. View in: Pubmed

RAF1 amplification drives a subset of bladder tumors and confers sensitivity to MAPK-directed therapeutics. J Clin Invest. 2021 11 15; 131(22). View in: Pubmed

A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo. Nat Commun. 2021 11 11; 12(1):6496. View in: Pubmed

FGFR2/3 genomic alterations and response to Enfortumab Vedotin in metastatic urothelial carcinoma. BJUI Compass. 2022 Mar; 3(2):169-172. View in: Pubmed

Synergistic antitumor activity of pan-PI3K inhibition and immune checkpoint blockade in bladder cancer. J Immunother Cancer. 2021 11; 9(11). View in: Pubmed

nab-Sirolimus for Patients With Malignant Perivascular Epithelioid Cell Tumors. J Clin Oncol. 2021 11 20; 39(33):3660-3670. View in: Pubmed

Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex. J Med Genet. 2022 09; 59(9):920-923. View in: Pubmed

Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study. Dev Med Child Neurol. 2022 04; 64(4):495-501. View in: Pubmed

Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2021 Oct; 23(10):2022. View in: Pubmed

MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis. Neuropathol Appl Neurobiol. 2021 10; 47(6):796-811. View in: Pubmed

CDKN2A Alterations and Response to Immunotherapy in Solid Tumors. Clin Cancer Res. 2021 07 15; 27(14):4025-4035. View in: Pubmed

Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. Ann Am Thorac Soc. 2021 05; 18(5):815-819. View in: Pubmed

Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer. PLoS One. 2021; 16(4):e0248380. View in: Pubmed

Trans-ethnic variation in germline variants of patients with renal cell carcinoma. Cell Rep. 2021 03 30; 34(13):108926. View in: Pubmed

Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes. Epilepsia. 2021 05; 62(5):1208-1219. View in: Pubmed

Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations. Clin Cancer Res. 2021 07 15; 27(14):3845-3853. View in: Pubmed

Tertiary lymphoid structure score: a promising approach to refine the TNM staging in resected non-small cell lung cancer. Br J Cancer. 2021 05; 124(10):1680-1689. View in: Pubmed

Whole-genome characterization of lung adenocarcinomas lacking alterations in the RTK/RAS/RAF pathway. Cell Rep. 2021 Feb 23; 34(8):108784. View in: Pubmed

Therapeutic Targeting of DGKA-Mediated Macropinocytosis Leads to Phospholipid Reprogramming in Tuberous Sclerosis Complex. Cancer Res. 2021 04 15; 81(8):2086-2100. View in: Pubmed

mTORC1 hyperactivation in lymphangioleiomyomatosis leads to ACE2 upregulation in type II pneumocytes: implications for COVID-19. Eur Respir J. 2021 02; 57(2). View in: Pubmed

Whole-genome characterization of lung adenocarcinomas lacking the RTK/RAS/RAF pathway. Cell Rep. 2021 02 02; 34(5):108707. View in: Pubmed

Distribution of KRASG12C Somatic Mutations across Race, Sex, and Cancer Type. N Engl J Med. 2021 01 14; 384(2):185-187. View in: Pubmed

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 01; 7(2). View in: Pubmed

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial. Ann Neurol. 2021 02; 89(2):304-314. View in: Pubmed

Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell. Am J Respir Crit Care Med. 2020 11 15; 202(10):1373-1387. View in: Pubmed

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. View in: Pubmed

Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics. Front Neurol. 2020; 11:582891. View in: Pubmed

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. View in: Pubmed

Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers. J Neuropathol Exp Neurol. 2020 10 01; 79(10):1054-1064. View in: Pubmed

Round Robin Evaluation of MET Protein Expression in Lung Adenocarcinomas Improves Interobserver Concordance. Appl Immunohistochem Mol Morphol. 2020 10; 28(9):669-677. View in: Pubmed

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. View in: Pubmed

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex? Ann Clin Transl Neurol. 2020 08; 7(8):1371-1381. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Celecoxib in lymphangioleiomyomatosis: results of a phase I clinical trial. Eur Respir J. 2020 05; 55(5). View in: Pubmed

Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma. Genet Med. 2020 08; 22(8):1366-1373. View in: Pubmed

Mammalian SWI/SNF Complex Genomic Alterations and Immune Checkpoint Blockade in Solid Tumors. Cancer Immunol Res. 2020 08; 8(8):1075-1084. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genet Med. 2020 04; 22(4):709-718. View in: Pubmed

Facing Uncertainty. N Engl J Med. 2019 Dec 05; 381(23):2253-2259. View in: Pubmed

Facing Uncertainty. N Engl J Med. 2019 Nov 28; 381(22):e39. View in: Pubmed

Mutations and Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma. Mol Cancer Ther. 2020 02; 19(2):690-696. View in: Pubmed

Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis. Eur Respir J. 2019 10; 54(4). View in: Pubmed

Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion. J Exp Med. 2019 11 04; 216(11):2635-2652. View in: Pubmed

A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults. Br J Dermatol. 2020 01; 182(1):235-237. View in: Pubmed

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. View in: Pubmed

A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis. Eur Respir J. 2019 06; 53(6). View in: Pubmed

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. View in: Pubmed

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 11; 21(11):2639-2643. View in: Pubmed

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). View in: Pubmed

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex. Genet Med. 2019 11; 21(11):2594-2604. View in: Pubmed

The Codon 72 TP53 Polymorphism Contributes to TSC Tumorigenesis through the Notch-Nodal Axis. Mol Cancer Res. 2019 08; 17(8):1639-1651. View in: Pubmed

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240. View in: Pubmed

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. View in: Pubmed

MCL1 and DEDD Promote Urothelial Carcinoma Progression. Mol Cancer Res. 2019 06; 17(6):1294-1304. View in: Pubmed

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. View in: Pubmed

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites. Clin Cancer Res. 2019 04 15; 25(8):2458-2470. View in: Pubmed

A novel mouse model of hemangiopericytoma due to loss of Tsc2. Hum Mol Genet. 2018 12 15; 27(24):4169-4175. View in: Pubmed

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. View in: Pubmed

Integrative Molecular Characterization of Malignant Pleural Mesothelioma. Cancer Discov. 2018 12; 8(12):1548-1565. View in: Pubmed

Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma. PLoS Genet. 2018 09; 14(9):e1007679. View in: Pubmed

Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell. 2018 08 09; 174(4):1033. View in: Pubmed

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. View in: Pubmed

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 Jun 19; 23(12):3698. View in: Pubmed

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. View in: Pubmed

Enrichment of FGFR3-TACC3 Fusions in Patients With Bladder Cancer Who Are Young, Asian, or Have Never Smoked. JCO Precis Oncol. 2018; 2. View in: Pubmed

TSC2 regulates microRNA biogenesis via mTORC1 and GSK3ß. Hum Mol Genet. 2018 05 01; 27(9):1654-1663. View in: Pubmed

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. View in: Pubmed

RAS-MAPK Reactivation Facilitates Acquired Resistance in FGFR1-Amplified Lung Cancer and Underlies a Rationale for Upfront FGFR-MEK Blockade. Mol Cancer Ther. 2018 07; 17(7):1526-1539. View in: Pubmed

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 04 03; 23(1):313-326.e5. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. Neuropsychopharmacology. 2018 05; 43(6):1457-1465. View in: Pubmed

Notch transactivates Rheb to maintain the multipotency of TSC-null cells. Nat Commun. 2017 11 29; 8(1):1848. View in: Pubmed

mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability. Cancer Cell. 2017 11 13; 32(5):624-638.e5. View in: Pubmed

Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell. 2017 Oct 19; 171(3):540-556.e25. View in: Pubmed

Genomic Activation of PPARG Reveals a Candidate Therapeutic Axis in Bladder Cancer. Cancer Res. 2017 12 15; 77(24):6987-6998. View in: Pubmed

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. View in: Pubmed

Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. Cancer Res. 2017 10 15; 77(20):5491-5502. View in: Pubmed

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. View in: Pubmed

Rapamycin-induced miR-21 promotes mitochondrial homeostasis and adaptation in mTORC1 activated cells. Oncotarget. 2017 Sep 12; 8(39):64714-64727. View in: Pubmed

Tuberin Regulates Prostaglandin Receptor-Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells. Mol Cancer Res. 2017 10; 15(10):1318-1330. View in: Pubmed

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. View in: Pubmed

Erratum: Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2. Nat Commun. 2017 06 09; 8:15901. View in: Pubmed

Environmental noise spectroscopy with qubits subjected to dynamical decoupling. J Phys Condens Matter. 2017 Aug 23; 29(33):333001. View in: Pubmed

A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations. Cancer Cell. 2017 06 12; 31(6):820-832.e3. View in: Pubmed

Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2. Nat Commun. 2017 04 07; 8:14922. View in: Pubmed

Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation. J Clin Invest. 2017 01 03; 127(1):349-364. View in: Pubmed

Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex. PLoS One. 2016; 11(12):e0167384. View in: Pubmed

Institutional implementation of clinical tumor profiling on an unselected cancer population. JCI Insight. 2016 11 17; 1(19):e87062. View in: Pubmed

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. View in: Pubmed

Seizures in tuberous sclerosis complex: hitting the target. Lancet. 2016 10 29; 388(10056):2062-2064. View in: Pubmed

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. View in: Pubmed

Inhibition of MAPK pathway is essential for suppressing Rheb-Y35N driven tumor growth. Oncogene. 2017 02 09; 36(6):756-765. View in: Pubmed

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. View in: Pubmed

Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas. Nat Genet. 2016 06; 48(6):607-16. View in: Pubmed

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. View in: Pubmed

Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors. Nat Genet. 2016 06; 48(6):600-606. View in: Pubmed

Pharmacogenomic Markers of Targeted Therapy Toxicity in Patients with Metastatic Renal Cell Carcinoma. Eur Urol Focus. 2016 Dec 15; 2(6):633-639. View in: Pubmed

Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol. 2016 07; 60:1-12. View in: Pubmed

Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma. Cell Rep. 2016 Mar 15; 14(10):2476-89. View in: Pubmed

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. View in: Pubmed

Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex. J Invest Dermatol. 2016 Feb; 136(2):535-538. View in: Pubmed

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. View in: Pubmed

Invasive Bladder Cancer: Genomic Insights and Therapeutic Promise. Clin Cancer Res. 2015 Oct 15; 21(20):4514-24. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase. Acta Neuropathol Commun. 2015 Jul 30; 3:48. View in: Pubmed

The Cancer Genome Atlas Project on Muscle-invasive Bladder Cancer. Eur Urol Focus. 2015 Aug; 1(1):94-95. View in: Pubmed

Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model. Neurobiol Dis. 2015 Oct; 82:22-31. View in: Pubmed

Multi-institutional Oncogenic Driver Mutation Analysis in Lung Adenocarcinoma: The Lung Cancer Mutation Consortium Experience. J Thorac Oncol. 2015 May; 10(5):768-777. View in: Pubmed

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. View in: Pubmed

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View in: Pubmed

Molecular biology of bladder cancer. Hematol Oncol Clin North Am. 2015 Apr; 29(2):191-203, vii. View in: Pubmed

A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Mol Cancer Res. 2015 Mar; 13(3):548-55. View in: Pubmed

mTOR Inhibitors in Cancer: What Can We Learn from Exceptional Responses? EBioMedicine. 2015 Jan; 2(1):2-4. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload. Cardiovasc Pathol. 2015 Mar-Apr; 24(2):80-93. View in: Pubmed

Combined CDKN1A/TP53 mutation in bladder cancer is a therapeutic target. Mol Cancer Ther. 2015 Jan; 14(1):174-82. View in: Pubmed

Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis. PLoS One. 2014; 9(10):e104809. View in: Pubmed

Response and acquired resistance to everolimus in anaplastic thyroid cancer. N Engl J Med. 2014 Oct 09; 371(15):1426-33. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 08; 26(3):319-330. View in: Pubmed

Molecular basis of giant cells in tuberous sclerosis complex. N Engl J Med. 2014 Aug 21; 371(8):778-80. View in: Pubmed

Coordinated regulation of protein synthesis and degradation by mTORC1. Nature. 2014 Sep 18; 513(7518):440-3. View in: Pubmed

Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014 Jul; 38(7):895-909. View in: Pubmed

Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. JAMA. 2014 May 21; 311(19):1998-2006. View in: Pubmed

Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet. 2014 Jul 15; 23(14):3865-74. View in: Pubmed

Integrative analysis of 1q23.3 copy-number gain in metastatic urothelial carcinoma. Clin Cancer Res. 2014 Apr 01; 20(7):1873-83. View in: Pubmed

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. View in: Pubmed

Autophagy-dependent metabolic reprogramming sensitizes TSC2-deficient cells to the antimetabolite 6-aminonicotinamide. Mol Cancer Res. 2014 Jan; 12(1):48-57. View in: Pubmed

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Hum Mol Genet. 2014 Apr 15; 23(8):2023-9. View in: Pubmed

Pivotal role of augmented aB-crystallin in tumor development induced by deficient TSC1/2 complex. Oncogene. 2014 Aug 21; 33(34):4352-8. View in: Pubmed

Tsc1-Tp53 loss induces mesothelioma in mice, and evidence for this mechanism in human mesothelioma. Oncogene. 2014 Jun 12; 33(24):3151-60. View in: Pubmed

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. View in: Pubmed

A biomarker for lymphangioleiomyomatosis. Lancet Respir Med. 2013 Aug; 1(6):424-5. View in: Pubmed

Metabolic and functional genomic studies identify deoxythymidylate kinase as a target in LKB1-mutant lung cancer. Cancer Discov. 2013 Aug; 3(8):870-9. View in: Pubmed

Stochastic model of Tsc1 lesions in mouse brain. PLoS One. 2013; 8(5):e64224. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

TSC1 involvement in bladder cancer: diverse effects and therapeutic implications. J Pathol. 2013 May; 230(1):17-27. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Molecular dissection of AKT activation in lung cancer cell lines. Mol Cancer Res. 2013 Mar; 11(3):282-93. View in: Pubmed

Targeting molecular aberrations in urothelial carcinoma: are we almost there? Am Soc Clin Oncol Educ Book. 2013; 195-9. View in: Pubmed

Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav Genet. 2013 Jan; 43(1):51-9. View in: Pubmed

The introduction of systematic genomic testing for patients with non-small-cell lung cancer. J Thorac Oncol. 2012 Dec; 7(12):1767-1774. View in: Pubmed

Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: clinical and molecular correlates. Int J Cancer. 2013 Apr 01; 132(7):1711-7. View in: Pubmed

Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell. 2012 Sep 14; 150(6):1107-20. View in: Pubmed

TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell. 2012 Aug 24; 47(4):535-46. View in: Pubmed

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. View in: Pubmed

Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. Oncologist. 2012; 17(7):927-9. View in: Pubmed

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. View in: Pubmed

Chronic activation of mTOR complex 1 is sufficient to cause hepatocellular carcinoma in mice. Sci Signal. 2012 Mar 27; 5(217):ra24. View in: Pubmed

Therapeutic trial of metformin and bortezomib in a mouse model of tuberous sclerosis complex (TSC). PLoS One. 2012; 7(2):e31900. View in: Pubmed

Voltage-induced adsorbate damping of single gold nanorod plasmons in aqueous solution. Nano Lett. 2012 Mar 14; 12(3):1247-52. View in: Pubmed

Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet. 2012 May; 20(5):510-5. View in: Pubmed

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. View in: Pubmed

Angiomyolipoma have common mutations in TSC2 but no other common genetic events. PLoS One. 2011; 6(9):e24919. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Akt stimulates hepatic SREBP1c and lipogenesis through parallel mTORC1-dependent and independent pathways. Cell Metab. 2011 Jul 06; 14(1):21-32. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

mTORC1-S6K activation by endotoxin contributes to cytokine up-regulation and early lethality in animals. PLoS One. 2010 Dec 21; 5(12):e14399. View in: Pubmed

FoxOs enforce a progression checkpoint to constrain mTORC1-activated renal tumorigenesis. Cancer Cell. 2010 Nov 16; 18(5):472-84. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). Lymphat Res Biol. 2010 Mar; 8(1):51-7. View in: Pubmed

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet. 2010 Mar; 127(5):573-82. View in: Pubmed

Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor. Oncogene. 2010 Apr 22; 29(16):2346-56. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion. J Clin Oncol. 2010 Jan 01; 28(1):e4-6. View in: Pubmed

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. View in: Pubmed

Critical roles for the TSC-mTOR pathway in ß-cell function. Am J Physiol Endocrinol Metab. 2009 Nov; 297(5):E1013-22. View in: Pubmed

Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol. 2010 Jan; 41(1):1-15. View in: Pubmed

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. Mol Cancer Ther. 2009 Jul; 8(7):1799-807. View in: Pubmed

Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis. Mol Cancer. 2009 Jun 15; 8:38. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Somatic LKB1 mutations promote cervical cancer progression. PLoS One. 2009; 4(4):e5137. View in: Pubmed

Critical role for hypothalamic mTOR activity in energy balance. Cell Metab. 2009 Apr; 9(4):362-74. View in: Pubmed

Increased AKT S473 phosphorylation after mTORC1 inhibition is rictor dependent and does not predict tumor cell response to PI3K/mTOR inhibition. Mol Cancer Ther. 2009 Apr; 8(4):742-53. View in: Pubmed

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet. 2009 Sep; 17(9):1165-70. View in: Pubmed

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. View in: Pubmed

Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet. 2009 Mar; 73(2):141-6. View in: Pubmed

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. View in: Pubmed

New applications and developments in the use of multiplex ligation-dependent probe amplification. Electrophoresis. 2008 Dec; 29(23):4627-36. View in: Pubmed

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. View in: Pubmed

Tuberous sclerosis complex proteins control axon formation. Genes Dev. 2008 Sep 15; 22(18):2485-95. View in: Pubmed

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. View in: Pubmed

Treatment of refractory lymphangioleiomyomatosis-associated chylous effusion with a pleuroperitoneal window and omental flap. J Thorac Cardiovasc Surg. 2009 Aug; 138(2):497-8. View in: Pubmed

AMP-activated protein kinase signaling results in cytoplasmic sequestration of p27. Cancer Res. 2008 Aug 15; 68(16):6496-506. View in: Pubmed

Regulation of endothelial nitric oxide synthase and postnatal angiogenesis by Rac1. Circ Res. 2008 Aug 15; 103(4):360-8. View in: Pubmed

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med. 2008 Aug; 14(8):843-8. View in: Pubmed

mTOR-raptor binds and activates SGK1 to regulate p27 phosphorylation. Mol Cell. 2008 Jun 20; 30(6):701-11. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol. 2008 Apr; 63(4):454-65. View in: Pubmed

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. Genomics. 2008 Feb; 91(2):203-8. View in: Pubmed

Intrafamilial phenotypic variability in tuberous sclerosis complex. J Child Neurol. 2007 Dec; 22(12):1348-55. View in: Pubmed

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. View in: Pubmed

LKB1 modulates lung cancer differentiation and metastasis. Nature. 2007 Aug 16; 448(7155):807-10. View in: Pubmed

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. View in: Pubmed

Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay. Biotechniques. 2007 May; 42(5):584, 586, 588. View in: Pubmed

Atherosclerosis: the path from genomics to therapeutics. J Am Coll Cardiol. 2007 Apr 17; 49(15):1589-1599. View in: Pubmed

PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR. J Clin Invest. 2007 Mar; 117(3):730-8. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol. 2007 Apr; 36(4):398-408. View in: Pubmed

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. View in: Pubmed

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol. 2006 Nov; 60(5):528-39. View in: Pubmed

Genetic determinants of C-reactive protein in COPD. Eur Respir J. 2006 Dec; 28(6):1156-62. View in: Pubmed

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. View in: Pubmed

Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels. Ann Hum Genet. 2006 Sep; 70(5):574-586. View in: Pubmed

Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics. 2006 Oct; 118(4):e1146-51. View in: Pubmed

Requirement of Rac1 in the development of cardiac hypertrophy. Proc Natl Acad Sci U S A. 2006 May 09; 103(19):7432-7. View in: Pubmed

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. View in: Pubmed

Rac1-null mouse embryonic fibroblasts are motile and respond to platelet-derived growth factor. Mol Biol Cell. 2006 May; 17(5):2377-90. View in: Pubmed

Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res. 2006 Mar; 16(3):436-40. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci. 2005 Dec; 8(12):1727-34. View in: Pubmed

Association of common CRP gene variants with CRP levels and cardiovascular events. Ann Hum Genet. 2005 Nov; 69(Pt 6):623-38. View in: Pubmed

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. View in: Pubmed

Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet. 2005 Oct 15; 14 Spec No. 2:R251-8. View in: Pubmed

Analysis of IL10 haplotypic associations with severe malaria. Genes Immun. 2005 Sep; 6(6):462-6. View in: Pubmed

Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology. 2005 Jul 26; 65(2):235-8. View in: Pubmed

Feedback inhibition of Akt signaling limits the growth of tumors lacking Tsc2. Genes Dev. 2005 Aug 01; 19(15):1773-8. View in: Pubmed

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. View in: Pubmed

TSC1, TSC2, TSC3? Or mosaicism? Eur J Hum Genet. 2005 Jun; 13(6):695-6. View in: Pubmed

Investigation of malaria susceptibility determinants in the IFNG/IL26/IL22 genomic region. Genes Immun. 2005 Jun; 6(4):312-8. View in: Pubmed

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. View in: Pubmed

Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Am J Respir Cell Mol Biol. 2005 Jul; 33(1):71-8. View in: Pubmed

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. View in: Pubmed

Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models. Genes Chromosomes Cancer. 2005 Mar; 42(3):213-27. View in: Pubmed

Association of defensin beta-1 gene polymorphisms with asthma. J Allergy Clin Immunol. 2005 Feb; 115(2):252-8. View in: Pubmed

A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes. Hum Mol Genet. 2005 Feb 01; 14(3):429-35. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Identification of a transcriptional profile associated with in vitro invasion in non-small cell lung cancer cell lines. Cancer Biol Ther. 2004 Jul; 3(7):624-31. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

ADAM33 polymorphisms and phenotype associations in childhood asthma. J Allergy Clin Immunol. 2004 Jun; 113(6):1071-8. View in: Pubmed

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. View in: Pubmed

Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. J Med Genet. 2004 May; 41(5):e69. View in: Pubmed

Genetic predisposition to wheeze following respiratory syncytial virus bronchiolitis. Clin Exp Allergy. 2004 May; 34(5):801-3. View in: Pubmed

No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample. Thorax. 2004 Apr; 59(4):291-4. View in: Pubmed

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. View in: Pubmed

Antimitogenic effects of HDL and APOE mediated by Cox-2-dependent IP activation. J Clin Invest. 2004 Feb; 113(4):609-18. View in: Pubmed

IL10 gene polymorphisms are associated with asthma phenotypes in children. Genet Epidemiol. 2004 Feb; 26(2):155-65. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Neuronal gelsolin prevents apoptosis by enhancing actin depolymerization. Mol Cell Neurosci. 2004 Jan; 25(1):69-82. View in: Pubmed

Gelsolin mediates collagen phagocytosis through a rac-dependent step. Mol Biol Cell. 2004 Feb; 15(2):588-99. View in: Pubmed

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. View in: Pubmed

A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation. Ann Hum Genet. 2003 Nov; 67(Pt 6):495-503. View in: Pubmed

Hematopoietic cell regulation by Rac1 and Rac2 guanosine triphosphatases. Science. 2003 Oct 17; 302(5644):445-9. View in: Pubmed

Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR. J Clin Invest. 2003 Oct; 112(8):1223-33. View in: Pubmed

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. View in: Pubmed

Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis. Cancer Biol Ther. 2003 Sep-Oct; 2(5):471-6. View in: Pubmed

Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypes. Hum Mol Genet. 2003 Aug 15; 12(16):1973-9. View in: Pubmed

A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation. Neurology. 2003 Aug 12; 61(3):409-12. View in: Pubmed

Rac1 deletion in mouse neutrophils has selective effects on neutrophil functions. J Immunol. 2003 Jun 01; 170(11):5652-7. View in: Pubmed

Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia. Genes Immun. 2003 Jun; 4(4):275-82. View in: Pubmed

Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. Lancet. 2003 Apr 19; 361(9366):1348-9. View in: Pubmed

Pulmonary vascular permeability and ischemic injury in gelsolin-deficient mice. Am J Respir Cell Mol Biol. 2003 Apr; 28(4):478-84. View in: Pubmed

Tuberous sclerosis: from tubers to mTOR. Ann Hum Genet. 2003 Jan; 67(Pt 1):87-96. View in: Pubmed

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. View in: Pubmed

Single nucleotide polymorphisms in innate immunity genes: abundant variation and potential role in complex human disease. Immunol Rev. 2002 Dec; 190:9-25. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. Ann Neurol. 2002 Sep; 52(3):285-96. View in: Pubmed

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. View in: Pubmed

CD40L association with protection from severe malaria. Genes Immun. 2002 Aug; 3(5):286-91. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

SNP identification, haplotype analysis, and parental origin of mutations in TSC2. Hum Genet. 2002 Jul; 111(1):96-101. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

A phase I clinical trial of sequentially administered doxorubicin and topotecan in refractory solid tumors. Clin Cancer Res. 2002 Mar; 8(3):691-7. View in: Pubmed

Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis. Chest. 2002 Mar; 121(3 Suppl):61S. View in: Pubmed

Rapid turnover of actin in dendritic spines and its regulation by activity. Nat Neurosci. 2002 Mar; 5(3):239-46. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Antimalarial antibody levels and IL4 polymorphism in the Fulani of West Africa. Genes Immun. 2001 Nov; 2(7):411-4. View in: Pubmed

Nucleotide diversity of the TNF gene region in an African village. Genes Immun. 2001 Oct; 2(6):343-8. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Unusual haplotypic structure of IL8, a susceptibility locus for a common respiratory virus. Am J Hum Genet. 2001 Aug; 69(2):413-9. View in: Pubmed

Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1. Curr Opin Neurol. 2001 Apr; 14(2):163-9. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Bronchioloalveolar carcinoma of the lung: recurrences and survival in patients with stage I disease. J Thorac Cardiovasc Surg. 2001 Jan; 121(1):42-7. View in: Pubmed

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. View in: Pubmed

Association of respiratory syncytial virus bronchiolitis with the interleukin 8 gene region in UK families. Thorax. 2000 Dec; 55(12):1023-7. View in: Pubmed

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. View in: Pubmed

Alternative splicing of the mouse profilin II gene generates functionally different profilin isoforms. J Cell Sci. 2000 Nov; 113 Pt 21:3795-803. View in: Pubmed

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. View in: Pubmed

The mouse mammary gland requires the actin-binding protein gelsolin for proper ductal morphogenesis. Dev Biol. 2000 Sep 15; 225(2):407-23. View in: Pubmed

Molecular genetic advances in tuberous sclerosis. Hum Genet. 2000 Aug; 107(2):97-114. View in: Pubmed

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. View in: Pubmed

Malaria susceptibility and CD36 mutation. Nature. 2000 Jun 29; 405(6790):1015-6. View in: Pubmed

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. View in: Pubmed

Failure of gelsolin overexpression to regulate lymphocyte apoptosis. Blood. 2000 Jun 01; 95(11):3483-8. View in: Pubmed

Calcium regulation of gelsolin and adseverin: a natural test of the helix latch hypothesis. Biochemistry. 2000 May 09; 39(18):5274-9. View in: Pubmed

Gelsolin deficiency blocks podosome assembly and produces increased bone mass and strength. J Cell Biol. 2000 Feb 21; 148(4):665-78. View in: Pubmed

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. View in: Pubmed

Role of gelsolin in the actin filament regulation of cardiac L-type calcium channels. Am J Physiol. 1999 12; 277(6):C1277-83. View in: Pubmed

Membrane ruffling, macropinocytosis and antigen presentation in the absence of gelsolin in murine dendritic cells. Eur J Immunol. 1999 11; 29(11):3450-5. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Early cytokine induction by Plasmodium falciparum is not a classical endotoxin-like process. Eur J Immunol. 1999 08; 29(8):2636-44. View in: Pubmed

Differential developmentally regulated expression of gelsolin family members in the mouse. Dev Dyn. 1999 Aug; 215(4):297-307. View in: Pubmed

Mannose-binding lectin and meningococcal disease. Lancet. 1999 Jul 24; 354(9175):336; author reply 337. View in: Pubmed

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. View in: Pubmed

The spontaneous coat color mutant white nose (wn) maps to murine chromosome 15. Mamm Genome. 1999 Jul; 10(7):750-2. View in: Pubmed

Inherited variability of tumor necrosis factor production and susceptibility to infectious disease. Proc Assoc Am Physicians. 1999 Jul-Aug; 111(4):290-8. View in: Pubmed

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. View in: Pubmed

Similarities and differences between human and murine TNF promoters in their response to lipopolysaccharide. J Immunol. 1999 Apr 01; 162(7):4045-52. View in: Pubmed

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. View in: Pubmed

Functions of gelsolin: motility, signaling, apoptosis, cancer. Curr Opin Cell Biol. 1999 Feb; 11(1):103-8. View in: Pubmed

Mena is required for neurulation and commissure formation. Neuron. 1999 Feb; 22(2):313-25. View in: Pubmed

Neuroprotective effects of gelsolin during murine stroke. J Clin Invest. 1999 Feb; 103(3):347-54. View in: Pubmed

Cell crawling two decades after Abercrombie. Biochem Soc Symp. 1999; 65:267-80. View in: Pubmed

Induction of apoptosis by gelsolin truncates. Ann N Y Acad Sci. 1999; 886:217-20. View in: Pubmed

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. View in: Pubmed

Severe malarial anemia and cerebral malaria are associated with different tumor necrosis factor promoter alleles. J Infect Dis. 1999 Jan; 179(1):287-90. View in: Pubmed

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. View in: Pubmed

Variable major lipoprotein is a principal TNF-inducing factor of louse-borne relapsing fever. Nat Med. 1998 Dec; 4(12):1416-20. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. Ann Hum Genet. 1998 Nov; 62(Pt 6):491-504. View in: Pubmed

Inducible nitric oxide synthase polymorphism and fatal cerebral malaria. Lancet. 1998 Oct 10; 352(9135):1193-4. View in: Pubmed

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. View in: Pubmed

Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members. J Biol Chem. 1998 Aug 07; 273(32):20535-9. View in: Pubmed

Advillin (p92): a new member of the gelsolin/villin family of actin regulatory proteins. J Cell Sci. 1998 Aug; 111 ( Pt 15):2129-36. View in: Pubmed

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. View in: Pubmed

Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. Mod Pathol. 1998 Jul; 11(7):665-8. View in: Pubmed

Molecular pathologic substaging in 244 stage I non-small-cell lung cancer patients: clinical implications. J Clin Oncol. 1998 Jul; 16(7):2468-77. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Probing the phosphoinositide 4,5-bisphosphate binding site of human profilin I. Chem Biol. 1998 May; 5(5):273-81. View in: Pubmed

Gelsolin is a downstream effector of rac for fibroblast motility. EMBO J. 1998 Mar 02; 17(5):1362-70. View in: Pubmed

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. View in: Pubmed

Pathophysiologic and prognostic role of cytokines in dengue hemorrhagic fever. J Infect Dis. 1998 Mar; 177(3):778-82. View in: Pubmed

Association of malaria parasite population structure, HLA, and immunological antagonism. Science. 1998 Feb 20; 279(5354):1173-7. View in: Pubmed

Mannose binding protein deficiency is not associated with malaria, hepatitis B carriage nor tuberculosis in Africans. QJM. 1998 Jan; 91(1):13-8. View in: Pubmed

Development of a malaria vaccine. Lancet. 1997 Dec 06; 350(9092):1696-701. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Caspase-3-generated fragment of gelsolin: effector of morphological change in apoptosis. Science. 1997 Oct 10; 278(5336):294-8. View in: Pubmed

The role of genomics in studying genetic susceptibility to infectious disease. Genome Res. 1997 Oct; 7(10):967-73. View in: Pubmed

Delayed retraction of filopodia in gelsolin null mice. J Cell Biol. 1997 Sep 22; 138(6):1279-87. View in: Pubmed

Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1. Genomics. 1997 Sep 15; 44(3):350-4. View in: Pubmed

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. View in: Pubmed

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997 Aug 08; 277(5327):805-8. View in: Pubmed

Tumor necrosis factor promoter polymorphism and susceptibility to lepromatous leprosy. J Infect Dis. 1997 Aug; 176(2):530-2. View in: Pubmed

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. View in: Pubmed

Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1. Ann Hum Genet. 1997 Jul; 61(Pt 4):299-305. View in: Pubmed

Residual neurologic sequelae after childhood cerebral malaria. J Pediatr. 1997 Jul; 131(1 Pt 1):125-9. View in: Pubmed

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. View in: Pubmed

Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet. 1997 Jan; 60(1):133-42. View in: Pubmed

Genomic organization and chromosomal location of murine Cdc42. Genomics. 1996 Nov 15; 38(1):13-8. View in: Pubmed

The effect of a monoclonal antibody to tumor necrosis factor on survival from childhood cerebral malaria. J Infect Dis. 1996 Nov; 174(5):1091-7. View in: Pubmed

Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol. 1996 Oct; 149(4):1201-8. View in: Pubmed

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet. 1996 Aug; 59(2):400-6. View in: Pubmed

A trial of artemether or quinine in children with cerebral malaria. N Engl J Med. 1996 Jul 11; 335(2):69-75. View in: Pubmed

Coordinated regulation of platelet actin filament barbed ends by gelsolin and capping protein. J Cell Biol. 1996 Jul; 134(2):389-99. View in: Pubmed

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. View in: Pubmed

In vitro induction of nitric oxide by an extract of Plasmodium falciparum. J Infect. 1996 May; 32(3):187-96. View in: Pubmed

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet. 1996 Feb; 5(2):249-56. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

A phase I study of ifosfamide/carboplatin/etoposide/paclitaxel in advanced lung cancer. Semin Oncol. 1995 Aug; 22(4 Suppl 9):70-4. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Natural selection of hemi- and heterozygotes for G6PD deficiency in Africa by resistance to severe malaria. Nature. 1995 Jul 20; 376(6537):246-9. View in: Pubmed

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. View in: Pubmed

Distinct biochemical characteristics of the two human profilin isoforms. Eur J Biochem. 1995 May 01; 229(3):621-8. View in: Pubmed

Molecular and pathologic markers in stage I non-small-cell carcinoma of the lung. J Clin Oncol. 1995 May; 13(5):1265-79. View in: Pubmed

Functions of [His321]gelsolin isolated from a flat revertant of ras-transformed cells. Eur J Biochem. 1995 May 01; 229(3):615-20. View in: Pubmed

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. View in: Pubmed

Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin. Cell. 1995 Apr 07; 81(1):41-51. View in: Pubmed

Clinical, neuropathological and genetic aspects of the tuberous sclerosis complex. Brain Pathol. 1995 Apr; 5(2):173-9. View in: Pubmed

Association of hepatitis B surface antigen carriage with severe malaria in Gambian children. Nat Med. 1995 Apr; 1(4):374-5. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1. Ann Hum Genet. 1995 01; 59(1):25-37. View in: Pubmed

Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34. Eur J Hum Genet. 1995; 3(2):78-86. View in: Pubmed

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. View in: Pubmed

Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature. 1994 Oct 06; 371(6497):508-10. View in: Pubmed

The human actin-regulatory protein cap G: gene structure and chromosome location. Genomics. 1994 Oct; 23(3):560-5. View in: Pubmed

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. View in: Pubmed

Parasite virulence and disease patterns in Plasmodium falciparum malaria. Proc Natl Acad Sci U S A. 1994 Apr 26; 91(9):3715-9. View in: Pubmed

Tuberous sclerosis. Arch Dermatol. 1994 Mar; 130(3):348-54. View in: Pubmed

Lactic acidosis and hypoglycaemia in children with severe malaria: pathophysiological and prognostic significance. Trans R Soc Trop Med Hyg. 1994 Jan-Feb; 88(1):67-73. View in: Pubmed

An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet. 1993 Dec; 53(6):1279-88. View in: Pubmed

A high-resolution linkage map of human 9q34.1. Genomics. 1993 Sep; 17(3):587-91. View in: Pubmed

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. View in: Pubmed

Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199). Hum Mol Genet. 1993 May; 2(5):614. View in: Pubmed

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1). J Med Genet. 1993 Mar; 30(3):224-7. View in: Pubmed

Anti-TNF therapy inhibits fever in cerebral malaria. Q J Med. 1993 Feb; 86(2):91-8. View in: Pubmed

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. View in: Pubmed

Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenet Cell Genet. 1993; 64(2):93-121. View in: Pubmed

Dinucleotide repeat polymorphism at the IFNA locus (9p22). Hum Mol Genet. 1992 Nov; 1(8):658. View in: Pubmed

A genetic linkage map of human chromosome 9q. Genomics. 1992 Nov; 14(3):715-20. View in: Pubmed

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. View in: Pubmed

Systemic cytokine response after major surgery. Br J Surg. 1992 Aug; 79(8):757-60. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34. Genomics. 1992 Jul; 13(3):841-4. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

In vivo analysis of functional domains from villin and gelsolin. J Cell Biol. 1992 Mar; 116(5):1145-55. View in: Pubmed

Tumor necrosis factor in septicemic melioidosis. J Infect Dis. 1992 Mar; 165(3):561-4. View in: Pubmed

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. View in: Pubmed

Dinucleotide repeat polymorphism at the D9S112 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):930. View in: Pubmed

Dinucleotide repeat polymorphism at the D9S119 locus (9q22-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932. View in: Pubmed

Dinucleotide repeat polymorphism at the D9S121 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):933. View in: Pubmed

Dinucleotide repeat polymorphism at the D9S120 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):933. View in: Pubmed

Dinucleotide repeat polymorphism at the D9S115 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):930. View in: Pubmed

Dinucleotide repeat polymorphism at the D9S118 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):932. View in: Pubmed

Dinucleotide repeat polymorphism at the D9S116 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931. View in: Pubmed

Dinucleotide repeat polymorphism at the D9S117 locus (9q31-34). Nucleic Acids Res. 1992 Feb 25; 20(4):931. View in: Pubmed

Construction of a GT polymorphism map of human 9q. Genomics. 1992 Feb; 12(2):229-40. View in: Pubmed

Interethnic genetic differentiation in Africa: HLA class I antigens in The Gambia. Am J Hum Genet. 1992 Feb; 50(2):411-21. View in: Pubmed

Actin-binding protein requirement for cortical stability and efficient locomotion. Science. 1992 Jan 17; 255(5042):325-7. View in: Pubmed

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. View in: Pubmed

Cytokines and anti-disease immunity to malaria. Res Immunol. 1991 Oct; 142(8):707-12. View in: Pubmed

Common west African HLA antigens are associated with protection from severe malaria. Nature. 1991 Aug 15; 352(6336):595-600. View in: Pubmed

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. View in: Pubmed

Bed nets and malaria. Lancet. 1991 Jul 06; 338(8758):52. View in: Pubmed

HLA class I typing by PCR: HLA-B27 and an African B27 subtype. Lancet. 1991 Mar 16; 337(8742):640-2. View in: Pubmed

Enhanced motility in NIH 3T3 fibroblasts that overexpress gelsolin. Science. 1991 Mar 08; 251(4998):1233-6. View in: Pubmed

Dinucleotide repeat polymorphism at the GSN locus (9q32-34). Nucleic Acids Res. 1991 Feb 25; 19(4):967. View in: Pubmed

Dinucleotide repeat polymorphism at the ABL locus (9q34). Nucleic Acids Res. 1991 Feb 25; 19(4):967. View in: Pubmed

Actin-binding proteins. Curr Opin Cell Biol. 1991 Feb; 3(1):87-97. View in: Pubmed

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. View in: Pubmed

Clinical findings and linkage studies in familial tuberous sclerosis. Ann N Y Acad Sci. 1991; 615:380-1. View in: Pubmed

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. View in: Pubmed

TNF concentration in fatal cerebral, non-fatal cerebral, and uncomplicated Plasmodium falciparum malaria. Lancet. 1990 Nov 17; 336(8725):1201-4. View in: Pubmed

Neurological sequelae of cerebral malaria in children. Lancet. 1990 Oct 27; 336(8722):1039-43. View in: Pubmed

Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. J Cell Biol. 1990 Sep; 111(3):1089-105. View in: Pubmed

Two soluble antigens of Plasmodium falciparum induce tumor necrosis factor release from macrophages. Infect Immun. 1990 Sep; 58(9):2923-8. View in: Pubmed

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. View in: Pubmed

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. View in: Pubmed

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol. 1990 Feb; 27(2):114-20. View in: Pubmed

Open comparison of intramuscular chloroquine and quinine in children with severe chloroquine-sensitive falciparum malaria. Lancet. 1989 Dec 02; 2(8675):1313-6. View in: Pubmed

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. View in: Pubmed

Why is malaria fever periodic? A hypothesis. Parasitol Today. 1989 Aug; 5(8):264-6. View in: Pubmed

The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs. Nucleic Acids Res. 1989 Jun 12; 17(11):4425. View in: Pubmed

Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron. 1989 May; 2(5):1427-34. View in: Pubmed

Identification of critical functional and regulatory domains in gelsolin. J Cell Biol. 1989 May; 108(5):1717-26. View in: Pubmed

Expression of gelsolin by Cos cell secretion. Cell Motil Cytoskeleton. 1989; 14(1):21-5. View in: Pubmed

Febrile temperatures can synchronize the growth of Plasmodium falciparum in vitro. J Exp Med. 1989 Jan 01; 169(1):357-61. View in: Pubmed

Predominant induction of gelsolin and actin-binding protein during myeloid differentiation. J Biol Chem. 1988 Sep 25; 263(27):13857-62. View in: Pubmed

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