Title |
Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression
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Published in |
BMC Medical Genomics, December 2010
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DOI | 10.1186/1755-8794-3-59 |
Pubmed ID | |
Authors |
Jeff A Klomp, David Petillo, Natalie M Niemi, Karl J Dykema, Jindong Chen, Ximing J Yang, Annika Sääf, Peter Zickert, Markus Aly, Ulf Bergerheim, Magnus Nordenskjöld, Sophie Gad, Sophie Giraud, Yves Denoux, Laurent Yonneau, Arnaud Méjean, Viorel Vasiliu, Stéphane Richard, Jeffrey P MacKeigan, Bin T Teh, Kyle A Furge |
Abstract |
Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. The majority of renal tumors that arise in BHDS-affected individuals are histologically similar to sporadic chromophobe renal cell carcinoma (RCC) and sporadic renal oncocytoma. However, most sporadic tumors lack FLCN mutations and the extent to which the BHDS-derived renal tumors share genetic defects associated with the sporadic tumors has not been well studied. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 5% |
United Kingdom | 1 | 2% |
Unknown | 54 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 14 | 24% |
Researcher | 9 | 16% |
Student > Bachelor | 6 | 10% |
Professor > Associate Professor | 5 | 9% |
Student > Master | 4 | 7% |
Other | 12 | 21% |
Unknown | 8 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 20 | 34% |
Biochemistry, Genetics and Molecular Biology | 14 | 24% |
Medicine and Dentistry | 11 | 19% |
Veterinary Science and Veterinary Medicine | 1 | 2% |
Psychology | 1 | 2% |
Other | 1 | 2% |
Unknown | 10 | 17% |