期刊
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
卷 35, 期 2, 页码 371-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ecl.2006.02.009
关键词
-
资金
- MRC [G0000477] Funding Source: UKRI
- Medical Research Council [G0000477] Funding Source: Medline
- Medical Research Council [G0000477] Funding Source: researchfish
Most valuable breakthroughs in the genetics of type 2 diabetes mellitus have arisen from familial linkage analysis of maturity-onset diabetes of the young, an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin-secretion defects. Despite its low prevalence, MODY is not a single entity but presents genetic, metabolic, and clinical heterogeneity. MODY can result from mutations in at least six different genes; one encodes the glycolytic enzyme glucokinase, which is an important glucose sensor, whereas all the others encode transcription factors that participate in a regulatory network essential for adult P cell function. Additional genes, yet unidentified, may explain the other MODY cases unlinked to a mutation in the known genes.
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