Birt–Hogg–Dubé syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Genetics(clinical),Oncology,Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10689-013-9679-y.pdf
Reference7 articles.
1. Schmidt LS, Nickerson ML, Warren MB et al (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet 76:1023–1033
2. Nickerson ML, Warren MB, Toro JR et al (2002) Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell 2:157–164
3. Vocke CD, Yang Y, Pavlovich CP et al (2005) High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. J Natl Cancer Inst 97:931–9315
4. Nookala RK, Langemeyer L, Pacitto A et al (2012) Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open Biol 2:120071. doi: 10.1098/rsob.120071
5. Nahorski MS, Seabra L, Straatman-Iwanowska A et al (2012) Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Hum Mol Genet 21:5268–5279
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