Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies

The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dube syndrome is required for murine B-cell development

(2012) M. Baba et al.   BLOOD

Disruption of Fnip1 Reveals a Metabolic Checkpoint Controlling B Lymphocyte Development

(2012) Heon Park et al.   IMMUNITY

Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer

(2012) R. K. Nookala et al.   Open Biology

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

(2011) Jeff A Klomp et al.   BMC Medical Genomics

Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

(2011) A C Houweling et al.   BRITISH JOURNAL OF CANCER

Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA

(2011) Teik How Lim et al.   DNA REPAIR

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome

(2011) Jihane N. Benhammou et al.   GENES CHROMOSOMES & CANCER

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability

(2011) Michael S. Nahorski et al.   HUMAN MUTATION

Therapeutic Targeting the Loss of the Birt-Hogg-Dube Suppressor Gene

(2011) X. Lu et al.   MOLECULAR CANCER THERAPEUTICS

Loss of the Birt–Hogg–Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription

(2011) T P Cash et al.   ONCOGENE

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

(2010) M. S. Nahorski et al.   JOURNAL OF MEDICAL GENETICS

Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature

(2010) M. Kunogi et al.   JOURNAL OF MEDICAL GENETICS

Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-β signaling

(2010) Seung-Beom Hong et al.   Molecular Cancer

Absence of the Birt–Hogg–Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility

(2010) R S Preston et al.   ONCOGENE

Inactivation of the FLCN Tumor Suppressor Gene Induces TFE3 Transcriptional Activity by Increasing Its Nuclear Localization

(2010) Seung-Beom Hong et al.   PLoS One

LKB1 and AMP-activated protein kinase control of mTOR signalling and growth

(2009) R. J. Shaw   Acta Physiologica

Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families

(2009) N. Kluger et al.   BRITISH JOURNAL OF DERMATOLOGY

Serine 62 is a phosphorylation site in folliculin, the Birt-Hogg-Dubé gene product

(2009) Lu Wang et al.   FEBS LETTERS

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

(2009) Derek H.K. Lim et al.   HUMAN MUTATION

Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin

(2009) V. Hudon et al.   JOURNAL OF MEDICAL GENETICS

The role of the Birt–Hogg–Dubé protein in mTOR activation and renal tumorigenesis

(2009) T R Hartman et al.   ONCOGENE

Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2

(2009) Y. Hasumi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The UOK 257 cell line: a novel model for studies of the human Birt–Hogg–Dubé gene pathway

(2008) Youfeng Yang et al.   CANCER GENETICS AND CYTOGENETICS

Identification and characterization of a novel folliculin-interacting protein FNIP2

(2008) Hisashi Hasumi et al.   GENE

Kidney-Targeted Birt-Hogg-Dube Gene Inactivation in a Mouse Model: Erk1/2 and Akt-mTOR Activation, Cell Hyperproliferation, and Polycystic Kidneys

(2008) M. Baba et al.   JNCI-Journal of the National Cancer Institute

Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein

(2008) Y Takagi et al.   ONCOGENE

Deficiency of FLCN in Mouse Kidney Led to Development of Polycystic Kidneys and Renal Neoplasia

(2008) Jindong Chen et al.   PLoS One

Birt-Hogg-Dubé Syndrome: Clinical and Genetic Studies of 20 Families

(2007) Edward M. Leter et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY