Title |
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma
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Published in |
JNCI: Journal of the National Cancer Institute, December 2014
|
DOI | 10.1093/jnci/dju408 |
Pubmed ID | |
Authors |
Lauren G Aoude, Antonia L Pritchard, Carla Daniela Robles-Espinoza, Karin Wadt, Mark Harland, Jiyeon Choi, Michael Gartside, Víctor Quesada, Peter Johansson, Jane M Palmer, Andrew J Ramsay, Xijun Zhang, Kristine Jones, Judith Symmons, Elizabeth A Holland, Helen Schmid, Vanessa Bonazzi, Susan Woods, Ken Dutton-Regester, Mitchell S Stark, Helen Snowden, Remco van Doorn, Grant W Montgomery, Nicholas G Martin, Thomas M Keane, Carlos López-Otín, Anne-Marie Gerdes, Håkan Olsson, Christian Ingvar, Ake Borg, Nelleke A Gruis, Jeffrey M Trent, Göran Jönsson, D Timothy Bishop, Graham J Mann, Julia A Newton-Bishop, Kevin M Brown, David J Adams, Nicholas K Hayward |
Abstract |
The shelterin complex protects chromosomal ends by regulating how the telomerase complex interacts with telomeres. Following the recent finding in familial melanoma of inactivating germline mutations in POT1, encoding a member of the shelterin complex, we searched for mutations in the other five components of the shelterin complex in melanoma families. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 4 | 20% |
Australia | 3 | 15% |
Mexico | 1 | 5% |
United Kingdom | 1 | 5% |
France | 1 | 5% |
Spain | 1 | 5% |
India | 1 | 5% |
Costa Rica | 1 | 5% |
Unknown | 7 | 35% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 11 | 55% |
Scientists | 6 | 30% |
Practitioners (doctors, other healthcare professionals) | 2 | 10% |
Science communicators (journalists, bloggers, editors) | 1 | 5% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 129 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 27 | 21% |
Researcher | 25 | 19% |
Student > Doctoral Student | 11 | 9% |
Student > Bachelor | 10 | 8% |
Student > Master | 7 | 5% |
Other | 21 | 16% |
Unknown | 28 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 38 | 29% |
Agricultural and Biological Sciences | 26 | 20% |
Medicine and Dentistry | 23 | 18% |
Computer Science | 2 | 2% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
Other | 8 | 6% |
Unknown | 30 | 23% |