Cash et al, 2011. Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription.
Hong et al, 2010. Inactivation of the FLCN Tumor Suppressor Gene Induces TFE3 Transcriptional Activity by Increasing Its Nuclear Localization.
Klomp et al, 2010. Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated wth up-regulation of mitochondrial gene expression.
Truong et al, 2010. Frameshift mutation hotspot identified in Smith-Magenis syndrome
Hong SB et al, 2010. Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-β signaling
Hasumi et al, 2009. Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2
Lim et al, 2009. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Singh et al, 2009. Multipotent stem cells in the Malpighian tubules of adult Drosophila
McRonald et al, 2009. CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma
Wei et al, 2009. The folliculin mutation database. an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Hartman et al, 2009. The Role of the Birt-Hogg-Dubé Protein in mTOR Activation and Renal Tumorigenesis
Chen et al, 2008. Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia
Hasumi et al, 2008. Identification and characterization of a novel folliculin-interacting protein FNIP2
Yang et al, 2008. The UOK 257 Cell Line – A Novel Model for Studies of the Human Birt-Hogg-Dubé Gene Pathway
Baba et al, 2008. Kidney-targeted Birt-Hogg-Dubé gene inactivation in a mouse model Erk12 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys
van Slegtenhorst et al, 2007. The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe.
van Steensel et al, 2007. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
Gad et al, 2007. Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma
Baba et al, 2006. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
Sweet et al, 2005. Molecular Classification of Patients with Unexplained Hamartomatous and Hyperplastic Polyposis
Lee et al, 2005. Genetics of skin appendage neoplasms and related syndromes
Vocke et al, 2005. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors.
Graham et al, 2005. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.
Painter et al, 2005. A 4-bp Deletion in the Birt-Hogg-Dubé Gene (FLCN) Causes Dominantly Inherited Spontaneous Pneumothorax
Schmidt et al, 2005. Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome
Warren et al, 2004. Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues.
Okimoto et al, 2004. A germ-line insertion in the Birt–Hogg–Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer
Lingaas et al, 2003. A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog.
Khoo et al, 2003. Inactivation of BHD in sporadic renal tumors.
Fernandes et al, 2003. Analysis of the Birt–Hogg–Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer
Kahnkosi et al, 2003. Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours.
Shin et al, 2003. Mutations of the Birt-Hogg-Dubé (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability.
Nickerson et al 2002. Mutations in a novel gene lead to kidney tumours, lung wall defects, and benign tumors of the hair follicle in patients with the Birt Hogg Dube syndrome.
Zbar et al, 2002. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.
Toro et al, 2002. Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dubé syndrome.
Schmidt et al, 2001. Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2
Khoo et al, 2001. Birt-Hogg-Dubé syndrome. mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.
