Associated Papers
Molecular chaperones: Guardians of tumor suppressor stability and function.
Heritz JA et al.
Oncotarget, 2024
Colon adenocarcinoma and Birt-Hogg-Dubé syndrome in a young patient: case report and exploration of pathologic implications.
Jirka GW et al.
Cancer Biology & Therapy, 2023
Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.
Jikuya R et al.
Ebiomedicine, 2023
Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration.
Singh N et al.
Advances in Experimental Medicine and Biology, 2021
Lymphoplasmacytic lymphoma in a patient with Birt-Hogg-Dubé syndrome.
Kurata K et al.
International Journal of Hematology, 2020
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.
Testa U et al.
Medicines (basel, Switzerland), 2020
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Liu K et al.
Orphanet Journal of Rare Diseases, 2019
Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology.
Kumar K et al.
Bmj Case Reports, 2019
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.
Castel SE et al.
Nature Genetics, 2018
BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.
Hasumi H et al.
Human Molecular Genetics, 2018
Hereditary kidney cancer syndromes: Genetic disorders driven by alterations in metabolism and epigenome regulation.
Hasumi H et al.
Cancer Science, 2018
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein.
Laviolette LA et al.
Nature Communications, 2017
H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.
Hasumi H et al.
Human Molecular Genetics, 2017
Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.
Hasumi H et al.
International Journal of Urology : Official Journal of the Japanese Urological Association, 2016
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
Schmidt LS et al.
Nature Reviews. Urology, 2015
Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
Benusiglio PR et al.
Orphanet Journal of Rare Diseases, 2014
FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation.
Dunlop EA et al.
Autophagy, 2014
Birt-Hogg-Dube syndrome is a novel ciliopathy.
Luijten MN et al.
Human Molecular Genetics, 2013
Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene.
Mota-Burgos A et al.
International Journal of Dermatology, 2013
Human folliculin delays cell cycle progression through late S and G2/M-phases: effect of phosphorylation and tumor associated mutations.
Laviolette LA et al.
Plos One, 2013
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Nahorski MS et al.
Human Mutation, 2011
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.
Kunogi M et al.
Journal of Medical Genetics, 2010
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Lim DH et al.
Human Mutation, 2010
Birt-Hogg-Dubé syndrome: diagnosis and management.
Menko FH et al.
The Lancet. Oncology, 2009
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
Toro JR et al.
Journal of Medical Genetics, 2008
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
Schmidt LS et al.
Expert Opinion on Orphan Drugs, 0