Associated Papers
Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.
Skarin Nordenvall A et al.
British Journal of Cancer, 2026
Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.
Zhang H et al.
Oncology Letters, 2021
33692861 (PubMed )
Supplement: Supplementary_Data.pdf
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 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
31615547 (PubMed )
Supplement: 13023_2019_1198_MOESM1_ESM.xlsx › Mutagenesis_primer_pairs
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
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Nahorski MS et al.
Human Mutation, 2011
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
Schmidt LS et al.
Expert Opinion on Orphan Drugs, 0
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