期刊
COLORECTAL DISEASE
卷 12, 期 6, 页码 570-573出版社
WILEY-BLACKWELL
DOI: 10.1111/j.1463-1318.2009.01931.x
关键词
Juvenile polyposis syndrome; hereditary mixed polyposis syndrome; bone morphogenetic protein receptor; transforming growth factor
The conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据