相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
Elaine A. Dunlop et al.
AUTOPHAGY (2014)
The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma
Caleb F. Davis et al.
CANCER CELL (2014)
Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation
Yukiko Hasumi et al.
HUMAN MOLECULAR GENETICS (2014)
The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation
Ming Yan et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dube tumour suppressor gene (FLCN)
X. Lu et al.
ONCOGENE (2014)
Topical Rapamycin as a Treatment for Fibrofolliculomas in Birt-Hogg-Dube Syndrome: A Double-Blind Placebo-Controlled Randomized Split-Face Trial
LiekeM. C. Gijezen et al.
PLOS ONE (2014)
Regulation of mTORC1 by amino acids
Liron Bar-Peled et al.
TRENDS IN CELL BIOLOGY (2014)
Folliculin Controls Lung Alveolar Enlargement and Epithelial Cell Survival through E-Cadherin, LKB1, and AMPK
Elena A. Goncharova et al.
CELL REPORTS (2014)
Folliculin Regulates Ampk-Dependent Autophagy and Metabolic Stress Survival
Elite Possik et al.
PLOS GENETICS (2014)
Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells
Damir Khabibullin et al.
PHYSIOLOGICAL REPORTS (2014)
Exit from Pluripotency Is Gated by Intracellular Redistribution of the bHLH Transcription Factor Tfe3
Joerg Betschinger et al.
CELL (2013)
Where Birt-Hogg-Dube meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours
Laura Maria Pradella et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Birt-Hogg-Dube syndrome and the skin
Marigje Vernooij et al.
FAMILIAL CANCER (2013)
Diagnosis and management of BHD-associated kidney cancer
Lambros Stamatakis et al.
FAMILIAL CANCER (2013)
Pulmonary manifestations of Birt-Hogg-Dube syndrome
Nishant Gupta et al.
FAMILIAL CANCER (2013)
Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases
Constance S. Petit et al.
JOURNAL OF CELL BIOLOGY (2013)
The Folliculin Tumor Suppressor Is a GAP for the RagC/D GTPases That Signal Amino Acid Levels to mTORC1
Zhi-Yang Tsun et al.
MOLECULAR CELL (2013)
Hornstein-Birt-Hogg-Dube syndrome: A renaming and reconsideration
Rudolf Happle
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dube syndrome is required for murine B-cell development
Masaya Baba et al.
BLOOD (2012)
Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA
Teik How Lim et al.
DNA REPAIR (2012)
Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Michael S. Nahorski et al.
HUMAN MOLECULAR GENETICS (2012)
Disruption of Fnip1 Reveals a Metabolic Checkpoint Controlling B Lymphocyte Development
Heon Park et al.
IMMUNITY (2012)
Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
Hisashi Hasumi et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2012)
Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
Doug A. Medvetz et al.
PLOS ONE (2012)
The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis
Agnes Roczniak-Ferguson et al.
SCIENCE SIGNALING (2012)
Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer
Ravi K. Nookala et al.
OPEN BIOLOGY (2012)
Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families
A. C. Houweling et al.
BRITISH JOURNAL OF CANCER (2011)
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations
A. Maffe et al.
CLINICAL GENETICS (2011)
Identification of Intragenic Deletions and Duplication in the FLCN Gene in Birt-Hogg-Dube Syndrome
Jihane N. Benhammou et al.
GENES CHROMOSOMES & CANCER (2011)
Birt Hogg-Dube Syndrome-Associated FLCN Mutations Disrupt Protein Stability
Michael S. Nahorski et al.
HUMAN MUTATION (2011)
Therapeutic Targeting the Loss of the Birt-Hogg-Dube Suppressor Gene
Xiaohong Lu et al.
MOLECULAR CANCER THERAPEUTICS (2011)
Absence of the Birt-Hogg-Dube gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility
R. S. Preston et al.
ONCOGENE (2011)
Loss of the Birt-Hogg-Dube tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription
T. P. Cash et al.
ONCOGENE (2011)
Birt-Hogg-Dube renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression
Jeff A. Klomp et al.
BMC MEDICAL GENOMICS (2010)
Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families
N. Kluger et al.
BRITISH JOURNAL OF DERMATOLOGY (2010)
Serine 62 is a phosphorylation site in folliculin, the Birt-Hogg-Dube gene product
Lu Wang et al.
FEBS LETTERS (2010)
A New Locus-Specific Database (LSDB) for Mutations in the Folliculin (FLCN) Gene
Derek H. K. Lim et al.
HUMAN MUTATION (2010)
Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin
V. Hudon et al.
JOURNAL OF MEDICAL GENETICS (2010)
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer
Michael S. Nahorski et al.
JOURNAL OF MEDICAL GENETICS (2010)
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature
Makiko Kunogi et al.
JOURNAL OF MEDICAL GENETICS (2010)
Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-β signaling
Seung-Beom Hong et al.
MOLECULAR CANCER (2010)
Neuroendocrine carcinoma in a patient with Birt-Hogg-Dube syndrome
Tijs Claessens et al.
NATURE REVIEWS UROLOGY (2010)
Inactivation of the FLCN Tumor Suppressor Gene Induces TFE3 Transcriptional Activity by Increasing Its Nuclear Localization
Seung-Beom Hong et al.
PLOS ONE (2010)
LKB1 and AMP-activated protein kinase control of mTOR signalling and growth
R. J. Shaw
ACTA PHYSIOLOGICA (2009)
Regulation of folliculin (the BHD gene product) phosphorylation by Tsc2-mTOR pathway
Xianghua Piao et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2009)
Birt-Hogg-Dube syndrome: diagnosis and management
Fred H. Menko et al.
LANCET ONCOLOGY (2009)
The role of the Birt-Hogg-Dube protein in mTOR activation and renal tumorigenesis
T. R. Hartman et al.
ONCOGENE (2009)
Lung cysts in Birt-Hogg-Dube syndrome: Histopathological characteristics and aberrant sequence repeats
Shunsuke Koga et al.
PATHOLOGY INTERNATIONAL (2009)
Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2
Yukiko Hasumi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
The UOK 257 cell line: a novel model for studies of the human Birt-Hogg-Dube gene pathway
Youfeng Yang et al.
CANCER GENETICS AND CYTOGENETICS (2008)
Mutation analysis of the FLCN gene in Chinese patients with sporadic and amilial isolated primary spontaneous pneumothorax
H-Z Ren et al.
CLINICAL GENETICS (2008)
Identification and characterization of a novel folliculin-interacting protein FNIP2
Hisashi Hasumi et al.
GENE (2008)
Birt-Hogg-Dube syndrome: Clinical and genetic studies of 20 families
Edward M. Leter et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2008)
Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys
Masaya Baba et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2008)
Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein
Y. Takagi et al.
ONCOGENE (2008)
Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia
Jindong Chen et al.
PLOS ONE (2008)
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports
J. R. Toro et al.
JOURNAL OF MEDICAL GENETICS (2008)
Mutations of the Birt-Hogg-Dube gene in patients with multiple lung cysts and recurrent pneumothorax
Yoko Gunji et al.
JOURNAL OF MEDICAL GENETICS (2007)
The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe
Marjon van Slegtenhorst et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Cystic lung disease in Birt-Hogg-Dube syndrome
Dereje S. Ayo et al.
CHEST (2007)
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome
Jorge R. Toro et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2007)
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dube patients
Maurice A. M. van Steensel et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2007)
Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma
S. Gad et al.
BRITISH JOURNAL OF CANCER (2007)
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
Masaya Baba et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults
RB Graham et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2005)
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors
CD Vocke et al.
JOURNAL OF THE NATIONAL CANCER INSTITUTE (2005)
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome
LS Schmidt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome
CP Pavlovich et al.
JOURNAL OF UROLOGY (2005)
A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax
JN Painter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Lack of mutation of the folliculin gene in sporadic chromophobe renal cell carcinoma and renal oncocytoma
A Nagy et al.
INTERNATIONAL JOURNAL OF CANCER (2004)
Renal tumors in the Birt-Hogg-Dube syndrome
CP Pavlovich et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2002)
Clinical and genetic studies of Birt-Hogg-Dube syndrome
SK Khoo et al.
JOURNAL OF MEDICAL GENETICS (2002)
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-Dube syndrome
ML Nickerson et al.
CANCER CELL (2002)
Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
LS Schmidt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Parotid oncocytoma in the Birt-Hogg-Dube syndrome
V Liu et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2000)
Treatment of Birt-Hogg-Dube syndrome with erbium:YAG laser
T Gambichler et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2000)