Published in J Biol Chem on June 07, 2007
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet (2008) 2.79
The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1. Mol Cell (2013) 2.79
Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst (2008) 2.25
The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene (2009) 2.14
Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia. PLoS One (2008) 1.64
Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases. J Cell Biol (2013) 1.43
Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. Oncogene (2010) 1.33
Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling. Mol Cancer (2010) 1.30
Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open Biol (2012) 1.29
Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. Oncogene (2011) 1.23
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Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Fam Cancer (2013) 1.10
Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion. PLoS One (2012) 1.08
Multiple amino acid sensing inputs to mTORC1. Cell Res (2015) 1.06
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. Nat Rev Urol (2015) 1.04
Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Hum Mol Genet (2012) 0.98
Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK. Cell Rep (2014) 0.94
Birt-Hogg-Dubé syndrome and the skin. Fam Cancer (2013) 0.93
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. Hum Mutat (2009) 0.88
Folliculin mutations are not associated with severe COPD. BMC Med Genet (2008) 0.85
Human folliculin delays cell cycle progression through late S and G2/M-phases: effect of phosphorylation and tumor associated mutations. PLoS One (2013) 0.84
Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiol Rep (2014) 0.82
Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial. PLoS One (2014) 0.81
The Birt-Hogg-Dubé tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis. Hum Mol Genet (2012) 0.81
Lst4, the yeast Fnip1/2 orthologue, is a DENN-family protein. Open Biol (2015) 0.78
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome. Expert Opin Orphan Drugs (2014) 0.77
Flcn-deficient renal cells are tumorigenic and sensitive to mTOR suppression. Oncotarget (2015) 0.77
FLCN Maintains the Leucine Level in Lysosome to Stimulate mTORC1. PLoS One (2016) 0.75
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The tuberous sclerosis complex. N Engl J Med (2006) 13.53
HEF1-dependent Aurora A activation induces disassembly of the primary cilium. Cell (2007) 6.50
miR-122, a mammalian liver-specific microRNA, is processed from hcr mRNA and may downregulate the high affinity cationic amino acid transporter CAT-1. RNA Biol (2004) 6.44
The zinc finger transcription factor Th-POK regulates CD4 versus CD8 T-cell lineage commitment. Nature (2005) 4.39
Tumorigenesis in tuberous sclerosis complex is autophagy and p62/sequestosome 1 (SQSTM1)-dependent. Proc Natl Acad Sci U S A (2011) 2.73
Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med (2002) 2.56
Estradiol and tamoxifen stimulate LAM-associated angiomyolipoma cell growth and activate both genomic and nongenomic signaling pathways. Am J Physiol Lung Cell Mol Physiol (2003) 2.54
Methylthioadenosine phosphorylase, a gene frequently codeleted with p16(cdkN2a/ARF), acts as a tumor suppressor in a breast cancer cell line. Cancer Res (2002) 2.35
Constitutive mTOR activation in TSC mutants sensitizes cells to energy starvation and genomic damage via p53. EMBO J (2007) 2.27
Paradoxical absence of a prothrombotic phenotype in a mouse model of severe hyperhomocysteinemia. Blood (2011) 2.02
Altered gene expression in morphologically normal epithelial cells from heterozygous carriers of BRCA1 or BRCA2 mutations. Cancer Prev Res (Phila) (2010) 1.80
Production of the neuromodulator H2S by cystathionine beta-synthase via the condensation of cysteine and homocysteine. J Biol Chem (2004) 1.77
Hyperhomocysteinemia impairs endothelium-derived hyperpolarizing factor-mediated vasorelaxation in transgenic cystathionine beta synthase-deficient mice. Blood (2011) 1.77
Estrogen promotes the survival and pulmonary metastasis of tuberin-null cells. Proc Natl Acad Sci U S A (2009) 1.75
Regulation of B-Raf kinase activity by tuberin and Rheb is mammalian target of rapamycin (mTOR)-independent. J Biol Chem (2004) 1.75
Modulation of cystathionine beta-synthase level regulates total serum homocysteine in mice. Circ Res (2004) 1.68
Altered gene expression in phenotypically normal renal cells from carriers of tumor suppressor gene mutations. Cancer Biol Ther (2004) 1.58
Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures. Am J Pathol (2003) 1.57
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model. Hum Mol Genet (2005) 1.52
Enzymatic mutation detection technologies. Biotechniques (2005) 1.42
Pillars article: the dorsoventral regulatory gene cassette spätzle/Toll/cactus controls the potent antifungal response in Drosophila adults. Cell. 1996. 86: 973-983. J Immunol (2012) 1.38
Rheb inhibits C-raf activity and B-raf/C-raf heterodimerization. J Biol Chem (2006) 1.36
Estrogen induces apoptosis in estrogen deprivation-resistant breast cancer through stress responses as identified by global gene expression across time. Proc Natl Acad Sci U S A (2011) 1.33
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia. FASEB J (2008) 1.32
Hyperhomocysteinemia promotes inflammatory monocyte generation and accelerates atherosclerosis in transgenic cystathionine beta-synthase-deficient mice. Circulation (2009) 1.30
Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe. J Biol Chem (2004) 1.28
Increased expression of the pro-protein convertase furin predicts decreased survival in ovarian cancer. Cell Oncol (2007) 1.24
The role of cystathionine beta-synthase in homocysteine metabolism. Antioxid Redox Signal (2005) 1.20
Severe hyperhomocysteinemia promotes bone marrow-derived and resident inflammatory monocyte differentiation and atherosclerosis in LDLr/CBS-deficient mice. Circ Res (2012) 1.18
The evolutionarily conserved TSC/Rheb pathway activates Notch in tuberous sclerosis complex and Drosophila external sensory organ development. J Clin Invest (2009) 1.17
Methylthioadenosine phosphorylase regulates ornithine decarboxylase by production of downstream metabolites. J Biol Chem (2003) 1.16
Chemical chaperone rescue of mutant human cystathionine beta-synthase. Mol Genet Metab (2007) 1.14
Growth inhibition and induction of apoptosis in mesothelioma cells by selenium and dependence on selenoprotein SEP15 genotype. Oncogene (2004) 1.11
Hepatitis B viremia is associated with increased risk of hepatocellular carcinoma in chronic carriers. J Med Virol (2004) 1.09
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. Hum Mutat (2008) 1.08
Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion. PLoS One (2012) 1.08
Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice. FASEB J (2009) 1.07
A novel Cas family member, HEPL, regulates FAK and cell spreading. Mol Biol Cell (2008) 1.07
Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis. EMBO Mol Med (2011) 1.07
Rab6 and the secretory pathway affect oocyte polarity in Drosophila. Development (2007) 1.05
mTOR activation, lymphangiogenesis, and estrogen-mediated cell survival: the "perfect storm" of pro-metastatic factors in LAM pathogenesis. Lymphat Res Biol (2010) 1.05
Assembly of hepatitis delta virus: particle characterization, including the ability to infect primary human hepatocytes. J Virol (2007) 1.04
Mice heterozygous for germ-line mutations in methylthioadenosine phosphorylase (MTAP) die prematurely of T-cell lymphoma. Cancer Res (2009) 1.04
Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. Proteins (2010) 1.03
Active cystathionine beta-synthase can be expressed in heme-free systems in the presence of metal-substituted porphyrins or a chemical chaperone. J Biol Chem (2008) 1.03
Loss of methylthioadenosine phosphorylase and elevated ornithine decarboxylase is common in pancreatic cancer. Clin Cancer Res (2004) 1.02
Serum amino acid levels as a biomarker for renal cell carcinoma. J Urol (2011) 1.02
Contribution of Abcc10 (Mrp7) to in vivo paclitaxel resistance as assessed in Abcc10(-/-) mice. Cancer Res (2011) 1.01
S-adenosylhomocysteine, but not homocysteine, is toxic to yeast lacking cystathionine beta-synthase. Mol Genet Metab (2002) 1.00
Drosophila Boi limits Hedgehog levels to suppress follicle stem cell proliferation. J Cell Biol (2010) 1.00
Mammalian target of rapamycin signaling and autophagy: roles in lymphangioleiomyomatosis therapy. Proc Am Thorac Soc (2010) 0.99
Analysis of published PKD1 gene sequence variants. Nat Genet (2007) 0.98
Autophagy: an 'Achilles' heel of tumorigenesis in TSC and LAM. Autophagy (2011) 0.97
Estradiol and mTORC2 cooperate to enhance prostaglandin biosynthesis and tumorigenesis in TSC2-deficient LAM cells. J Exp Med (2014) 0.97
Functional rescue of mutant human cystathionine beta-synthase by manipulation of Hsp26 and Hsp70 levels in Saccharomyces cerevisiae. J Biol Chem (2008) 0.96
APC +/- alters colonic fibroblast proteome in FAP. Oncotarget (2011) 0.96
Dietary intake of S-(alpha-carboxybutyl)-DL-homocysteine induces hyperhomocysteinemia in rats. Nutr Res (2010) 0.95
Suppression of tumor formation by a cyclooxygenase-2 inhibitor and a peroxisome proliferator-activated receptor gamma agonist in an in vivo mouse model of spontaneous breast cancer. Clin Cancer Res (2008) 0.95
Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin B. J Biol Chem (2003) 0.95
Properties of subviral particles of hepatitis B virus. J Virol (2008) 0.95
RING domain-deficient BRCA1 promotes PARP inhibitor and platinum resistance. J Clin Invest (2016) 0.94
Cystathionine beta-synthase deficiency causes fat loss in mice. PLoS One (2011) 0.93
Integration of mTOR and estrogen-ERK2 signaling in lymphangioleiomyomatosis pathogenesis. Proc Natl Acad Sci U S A (2013) 0.92
Transgenic overexpression of the proprotein convertase furin enhances skin tumor growth. Neoplasia (2012) 0.91
Increasing the therapeutic index of 5-fluorouracil and 6-thioguanine by targeting loss of MTAP in tumor cells. Cancer Biol Ther (2012) 0.91
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. PLoS Genet (2010) 0.89
Methionine-deficient diet induces post-transcriptional downregulation of cystathionine β-synthase. Nutrition (2009) 0.88
Estrogen-induced activation of mammalian target of rapamycin is mediated via tuberin and the small GTPase Ras homologue enriched in brain. Cancer Res (2006) 0.88
Quantitation of cellular metabolic fluxes of methionine. Anal Chem (2014) 0.87
The methionine salvage pathway compound 4-methylthio-2-oxobutanate causes apoptosis independent of down-regulation of ornithine decarboxylase. Biochem Pharmacol (2006) 0.87
Assembly of hepatitis B virus envelope proteins onto a lentivirus pseudotype that infects primary human hepatocytes. J Virol (2007) 0.87
Brain phenotype of transgenic mice overexpressing cystathionine β-synthase. PLoS One (2012) 0.87
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria. Genet Med (2004) 0.86
Altered levels of STAT1 and STAT3 influence the neuronal response to interferon gamma. J Neuroimmunol (2007) 0.86
The role of tuberin in cellular differentiation: are B-Raf and MAPK involved? Ann N Y Acad Sci (2005) 0.85
Cystathionine β-synthase-deficient mice thrive on a low-methionine diet. FASEB J (2013) 0.85
Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency. J Cell Biochem (2008) 0.85
STAT1-independent control of a neurotropic measles virus challenge in primary neurons and infected mice. J Immunol (2012) 0.85
Pas1, a G1 cyclin, regulates amino acid uptake and rescues a delay in G1 arrest in Tsc1 and Tsc2 mutants in Schizosaccharomyces pombe. Hum Mol Genet (2005) 0.84
Alteration of Differentiation Potentials by Modulating GATA Transcription Factors in Murine Embryonic Stem Cells. Stem Cells Int (2010) 0.84
High-resolution analysis of 9p loss in human cancer cells using single nucleotide polymorphism-based mapping arrays. Cancer Genet Cytogenet (2006) 0.84
Enhanced UV-induced skin carcinogenesis in transgenic mice overexpressing proprotein convertases. Neoplasia (2013) 0.83
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria. Exp Mol Med (2006) 0.83
Mutational analysis of the von hippel lindau gene in clear cell renal carcinomas from tuberous sclerosis complex patients. Mod Pathol (2002) 0.80
Chemical genetic screening for compounds that preferentially inhibit growth of methylthioadenosine phosphorylase (MTAP)-deficient Saccharomyces cerevisiae. J Biomol Screen (2010) 0.80
Germline Mutations in Mtap Cooperate with Myc to Accelerate Tumorigenesis in Mice. PLoS One (2013) 0.79
Interferon impedes an early step of hepatitis delta virus infection. PLoS One (2011) 0.78
Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors. Hum Mutat (2013) 0.77
The Herp protein pathway is not involved in the pro-amyloidogenic effect of hyperhomocysteinemia. J Alzheimers Dis (2010) 0.77
Regulation of human methylthioadenosine phosphorylase gene by the CBF (CCAAT binding factor)/NF-Y (nuclear factor-Y). Biochem J (2005) 0.77
Aberrant cellular differentiation and migration in renal and pulmonary tuberous sclerosis complex. J Child Neurol (2004) 0.77
Inhibition of betaine-homocysteine S-methyltransferase in rats causes hyperhomocysteinemia and reduces liver cystathionine β-synthase activity and methylation capacity. Nutr Res (2011) 0.77
The TSC1/2 complex controls Drosophila pigmentation through TORC1-dependent regulation of catecholamine biosynthesis. PLoS One (2012) 0.76
TORC1 activation and autophagy inhibition: opposing forces in Rheb-driven tumorigenesis. Cell Cycle (2011) 0.76
Mutation detection in tumor suppressor genes using archival tissue specimens. Methods Mol Med (2006) 0.75