Identification and characterization of the tuberous sclerosis gene on chromosome 16.

Strong association of de novo copy number mutations with autism. Science (2007) 27.84

The TSC1-2 tumor suppressor controls insulin-PI3K signaling via regulation of IRS proteins. J Cell Biol (2004) 9.71

Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Genes Dev (2003) 9.58

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet (2009) 7.61

The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J (2008) 6.32

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med (2008) 5.15

TSC-mTOR maintains quiescence and function of hematopoietic stem cells by repressing mitochondrial biogenesis and reactive oxygen species. J Exp Med (2008) 4.76

TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth. Genes Dev (2001) 4.68

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci U S A (2000) 4.30

PEComas: the past, the present and the future. Virchows Arch (2007) 3.93

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol (2013) 3.49

A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A (2007) 3.47

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 (2000) 3.44

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42

Cardiac myocyte cell cycle control in development, disease, and regeneration. Physiol Rev (2007) 3.41

Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. J Clin Invest (1999) 3.38

Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning. J Cell Biol (2006) 3.33

Somatic mutation, genomic variation, and neurological disease. Science (2013) 2.72

Changes in lung function and chylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus. Ann Intern Med (2011) 2.67

Regulation of mTORC1 by amino acids. Trends Cell Biol (2014) 2.64

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet (2004) 2.62

Signaling by target of rapamycin proteins in cell growth control. Microbiol Mol Biol Rev (2005) 2.56

Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent. J Cell Biol (2002) 2.46

Amino acids and mTORC1: from lysosomes to disease. Trends Mol Med (2012) 2.38

Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. Mol Cell Biol (2004) 2.37

A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. Proc Natl Acad Sci U S A (2001) 2.35

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet (1999) 2.26

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol (2013) 2.22

The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene (2009) 2.14

Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. Am J Hum Genet (1998) 2.13

Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med (2011) 2.04

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet (2007) 1.94

Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III. Proc Natl Acad Sci U S A (1997) 1.89

Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet (2004) 1.88

Rapamycin suppresses seizures and neuronal hypertrophy in a mouse model of cortical dysplasia. Dis Model Mech (2009) 1.87

Lymphangioleiomyomatosis - a wolf in sheep's clothing. J Clin Invest (2012) 1.87

The E6 oncoproteins of high-risk papillomaviruses bind to a novel putative GAP protein, E6TP1, and target it for degradation. Mol Cell Biol (1999) 1.84

Autism and tuberous sclerosis. J Autism Dev Disord (1998) 1.84

Reversing neurodevelopmental disorders in adults. Neuron (2008) 1.80

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse. Hum Mol Genet (2009) 1.79

Rheb is essential for murine development. Mol Cell Biol (2011) 1.76

Lymphangioleiomyomatosis: what do we know and what are we looking for? Eur Respir Rev (2011) 1.73

Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics (2006) 1.73

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice. J Clin Invest (2011) 1.59

Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tuberous sclerosis complex gene-2. Proc Natl Acad Sci U S A (1998) 1.59

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) 1.58

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int (2008) 1.58

Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures. Am J Pathol (2003) 1.57

Malformations of cortical development and epilepsy. Dialogues Clin Neurosci (2008) 1.53

Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. Epilepsia (2007) 1.48

Overexpression of PKD1 causes polycystic kidney disease. Mol Cell Biol (2006) 1.47

Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans. Am J Respir Cell Mol Biol (2006) 1.47

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders. Trends Mol Med (2010) 1.46

Role of the Tsc1-Tsc2 complex in signaling and transport across the cell membrane in the fission yeast Schizosaccharomyces pombe. Genetics (2002) 1.43

Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment. Hum Mol Genet (2009) 1.40

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet (2001) 1.39

Biallelic TSC gene inactivation in tuberous sclerosis complex. Neurology (2010) 1.39

High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet (1999) 1.38

Pushing the envelope in the mTOR pathway: the second generation of inhibitors. Mol Cancer Ther (2011) 1.38

Dyspnea in a 43-year-old woman with polycystic kidney disease. Chest (2009) 1.38

PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects. Cell Cycle (2009) 1.38

Embryonic neuronal markers in tuberous sclerosis: single-cell molecular pathology. Proc Natl Acad Sci U S A (1996) 1.38

From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J Intellect Disabil Res (2009) 1.37

Inhibition of the mammalian target of rapamycin blocks epilepsy progression in NS-Pten conditional knockout mice. Epilepsia (2011) 1.36

Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes. Best Pract Res Clin Endocrinol Metab (2010) 1.35

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet (2010) 1.34

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain (2015) 1.33

Ras and Rap signaling in synaptic plasticity and mental disorders. Neuroscientist (2010) 1.29

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology (2011) 1.28

Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development. Proc Natl Acad Sci U S A (1998) 1.28

Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics (2011) 1.27

The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis. Lymphat Res Biol (2010) 1.27

Phosphatidylinositol 3-kinase (PI3K) pathway activation in bladder cancer. Cancer Metastasis Rev (2009) 1.26

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol (2008) 1.26

Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene. Proc Natl Acad Sci U S A (1997) 1.25

Metabolic regulation of neuronal plasticity by the energy sensor AMPK. PLoS One (2010) 1.25

mTOR regulates tau phosphorylation and degradation: implications for Alzheimer's disease and other tauopathies. Aging Cell (2013) 1.24

The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol (2008) 1.20

Rapamycin weekly maintenance dosing and the potential efficacy of combination sorafenib plus rapamycin but not atorvastatin or doxycycline in tuberous sclerosis preclinical models. BMC Pharmacol (2009) 1.20

Utility of [18F]2-fluoro-2-deoxyglucose-PET in sporadic and tuberous sclerosis-associated lymphangioleiomyomatosis. Chest (2009) 1.19

Fbxw7 regulates lipid metabolism and cell fate decisions in the mouse liver. J Clin Invest (2010) 1.17

New insights into the tumor suppression function of P27(kip1) Proc Natl Acad Sci U S A (1998) 1.17

Mechanism-based treatment in tuberous sclerosis complex. Pediatr Neurol (2013) 1.17

Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis. Am J Respir Crit Care Med (2010) 1.17

Biology and treatment of metastatic gastrointestinal neuroendocrine tumors. Gastrointest Cancer Res (2008) 1.16

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex. Nat Commun (2012) 1.16

Deconvoluting mTOR biology. Cell Cycle (2012) 1.16

Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments. Neuropsychopharmacology (2011) 1.15

Comparison of three rapamycin dosing schedules in A/J Tsc2+/- mice and improved survival with angiogenesis inhibitor or asparaginase treatment in mice with subcutaneous tuberous sclerosis related tumors. J Transl Med (2010) 1.15

Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients. PLoS One (2013) 1.15

Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond. Pediatr Nephrol (2005) 1.15

Our changing view of the genomic landscape of cancer. J Pathol (2010) 1.13

Prospects for mTOR inhibitor use in patients with polycystic kidney disease and hamartomatous diseases. Clin J Am Soc Nephrol (2010) 1.12

Autism in tuberous sclerosis complex. J Autism Dev Disord (1998) 1.12

Germ-line mosaicism in tuberous sclerosis: how common? Am J Hum Genet (1999) 1.12

Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model. BMC Dermatol (2008) 1.12

Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factors. Brain Pathol (2009) 1.12

Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. Br J Cancer (2001) 1.11

Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin. Neurobiol Dis (2011) 1.09

Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics (2008) 1.08