Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome
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Renal oncocytoma: a comparative clinicopathologic study and fluorescent in-situ hybridization analysis of 73 cases with long-term follow-upGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesisCrystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancerFLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylationFolliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signalingThe tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal functionSerine 62 is a phosphorylation site in folliculin, the Birt-Hogg-Dubé gene productInteraction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) proteinIdentification and characterization of a novel folliculin-interacting protein FNIP2Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localizationTumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signalingBirt-Hogg-Dube syndrome: clinicopathological features of the lungGenetic interstitial lung diseaseState of the science: an update on renal cell carcinomaBHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reportsConserved regulators of Rag GTPases orchestrate amino acid-dependent TORC1 signalingCurrent Insights into Long Non-Coding RNAs in Renal Cell CarcinomaGenetic and Chromosomal Aberrations and Their Clinical Significance in Renal NeoplasmsAmino acid management in cancerDiagnosis and management of BHD-associated kidney cancerTargeted therapeutic strategies for the management of renal cell carcinomaThe metabolic basis of kidney cancerCirculating biomarkers in advanced renal cell carcinoma: clinical applicationsFLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen StoresFolliculin regulates ampk-dependent autophagy and metabolic stress survivalExpression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.Crystal structures of the human RNA demethylase Alkbh5 reveal basis for substrate recognition.Beyond indigestion: emerging roles for lysosome-based signaling in human diseaseThe FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug bindingThe somatic genomic landscape of chromophobe renal cell carcinomaRegulation of mitochondrial oxidative metabolism by tumor suppressor FLCNHomozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneysDeficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasiaThe folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell developmentThe role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesisExit from pluripotency is gated by intracellular redistribution of the bHLH transcription factor Tfe3Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcriptionFolliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK.
P2860
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P2860
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome
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2002 nî lūn-bûn
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2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
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2002 թվականի օգոստոսին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
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2002年論文
@zh-hant
2002年論文
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2002年論文
@zh-mo
2002年論文
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2002年论文
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name
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@ast
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@en
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@nl
type
label
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@ast
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@en
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@nl
prefLabel
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@ast
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@en
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@nl
P2093
P3181
P1433
P1476
Mutations in a novel gene lead ...... th the Birt-Hogg-Dubé syndrome
@en
P2093
Berton Zbar
Cheryl Greenberg
Christian P Pavlovich
David Munroe
Eamonn Maher
Gladys Glenn
Jorge R Toro
Laura S Schmidt
Maria L Turner
Maria Merino
P304
P3181
P356
10.1016/S1535-6108(02)00104-6
P407
P577
2002-08-01T00:00:00Z