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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. Mol Cancer Ther. 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. Mol Cancer Ther. 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):528-539.
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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. Cancer Biol Ther. 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. Cancer Biol Ther. 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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