Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences

被引：214

作者：

Ryffel, GU ^{[1
]}

机构：

[1] Univ Essen Gesamthsch Klinikum, Inst Zellbiol Tumorforsch, D-45122 Essen, Germany

来源：

JOURNAL OF MOLECULAR ENDOCRINOLOGY | 2001年 / 27卷 / 01期

关键词：

D O I：

10.1677/jme.0.0270011

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mutations in the human genes encoding the tissue-specific transcription factors hepatocyte nuclear factor (HNF)1 alpha, HNF1 beta and HNF4 alpha, are responsible for maturity onset diabetes of the young (MODY), a monogenic dominant inherited form of diabetes mellitus characterized by defective insulin secretion of the pancreatic beta -cells. In addition, the mutated HNF1 beta gene causes defective development of the kidney and genital malformation. This review summarizes the main features of these transcription factors and discusses potential events leading to the specific disease phenotypes.

引用

页码：11 / 29

页数：19

共 135 条

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