Title |
Role of SDHAF2 and SDHD in von Hippel–Lindau Associated Pheochromocytomas
|
---|---|
Published in |
World Journal of Surgery, December 2013
|
DOI | 10.1007/s00268-013-2373-2 |
Pubmed ID | |
Authors |
Johan Kugelberg, Jenny Welander, Francesca Schiavi, Ambrogio Fassina, Martin Bäckdahl, Catharina Larsson, Giuseppe Opocher, Peter Söderkvist, Patricia L. Dahia, Hartmut P. H. Neumann, Oliver Gimm |
Abstract |
Pheochromocytomas (PCCs) develop from the adrenal medulla and are often part of a hereditary syndrome such as von Hippel-Lindau (VHL) syndrome. In VHL, only about 30 % of patients with a VHL missense mutation develop PCCs. Thus, additional genetic events leading to formation of such tumors in patients with VHL syndrome are sought. SDHAF2 (previously termed SDH5) and SDHD are both located on chromosome 11q and are required for the function of mitochondrial complex II. While SDHAF2 has been shown to be mutated in patients with paragangliomas (PGLs), SDHD mutations have been found both in patients with PCCs and in patients with PGLs. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 27 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 5 | 19% |
Student > Ph. D. Student | 5 | 19% |
Unspecified | 3 | 11% |
Student > Master | 2 | 7% |
Other | 1 | 4% |
Other | 4 | 15% |
Unknown | 7 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 37% |
Unspecified | 3 | 11% |
Biochemistry, Genetics and Molecular Biology | 3 | 11% |
Decision Sciences | 1 | 4% |
Veterinary Science and Veterinary Medicine | 1 | 4% |
Other | 2 | 7% |
Unknown | 7 | 26% |