Article

Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation

2020-03-31

Abstract excerpt

Germline mutations in the folliculin ( FLCN ) tumor suppressor gene are linked to Birt-Hogg-Dubé (BHD) syndrome, a dominantly inherited genetic disease characterized by predisposition to fibrofolliculomas, lung cysts, and renal cancer. Most BHD-linked FLCN variants include large deletions and splice site aberrations predicted to cause loss of function. The mechanisms by which missense variants and short in-frame...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 64d821c2-3078-5d99-b1da-bd32d1890536
DOI: 10.1101/2020.03.30.015248

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradationDOI 10.1101/2020.03.30.015248Read

Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradationSemantic proximity Read

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.Semantic proximity Read

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.Semantic proximity Read

Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.Semantic proximity Read

Novel FLCN mutations in Birt-Hogg-Dubé patients and potential intervention of FLCN mRNA.Semantic proximity Read

Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndromeSemantic proximity Read

Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.Semantic proximity Read

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.Semantic proximity Read

FLCN: The causative gene for Birt-Hogg-Dubé syndrome.Semantic proximity Read

PRDM10directsFLCNexpression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosisSemantic proximity Read

A novel mutation in the FLCN gene in a chinese family with Birt-Hogg-Dubé(BHD) syndromeSemantic proximity Read

Evaluation of folliculin detection by immunohistochemistry in Birt-Hogg-Dubé associated kidney tumorsSemantic proximity Read