Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1-Reference-Cited by-同舟云学术

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1

Published:2012-05-06 Issue:6 Volume:44 Page:699-703
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Jaeger Emma,Leedham Simon,Lewis Annabelle,Segditsas Stefania,Becker Martin,Cuadrado Pedro Rodenas,Davis Hayley,Kaur Kulvinder,Heinimann Karl,Howarth Kimberley,East James,Taylor Jenny,Thomas Huw,Tomlinson Ian

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2263.pdf

Reference21 articles.

1. Whitelaw, S.C. et al. Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology 112, 327–334 (1997).

2. Jaeger, E.E. et al. An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. Am. J. Hum. Genet. 72, 1261–1267 (2003).

3. Tomlinson, I. et al. Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. Gastroenterology 116, 789–795 (1999).

4. Jaeger, E. et al. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat. Genet. 40, 26–28 (2008).

5. Cheah, P.Y. et al. Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome. Am. J. Gastroenterol. 104, 3027–3033 (2009).

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