Mechanisms of Nephronophthisis and Related Ciliopathies

被引：64

作者：

Hurd, Toby W. ^{[2
,3
]}

Hildebrandt, Friedhelm ^{[1
,2
,3
]}

机构：

[1] Univ Michigan, Howard Hughes Med Inst, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

[3] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

来源：

NEPHRON EXPERIMENTAL NEPHROLOGY | 2011年 / 118卷 / 01期

基金：

美国国家卫生研究院;

关键词：

Nephronophthisis; NPHP genes; Joubert syndrome; Meckel-Gruber syndrome; Senior-Loken syndrome; POLYCYSTIC KIDNEY-DISEASE; PRIMARY CILIA; RETINAL DEGENERATION; JOUBERT-SYNDROME; TRANSITION ZONE; DOMAIN PROTEIN; CELL POLARITY; MUTATIONS; GENE; NEPHROCYSTIN-4;

D O I：

10.1159/000320888

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

An emerging group of human genetic diseases termed 'ciliopathies' are caused by dysfunction of two functionally and physically associated organelles, the centrosome and cilium. These organelles are central to perception of the physical environment through detection of a diverse variety of extracellular signals such as growth factors, chemicals, light and fluid flow. Many of the described ciliopathies display multi-organ involvement, with renal and retina being the most commonly affected. Nephronophthisis is a recessive disorder of the kidney that is the leading cause of end-stage renal failure in children. Through positional cloning, many of the causative mutations have been mapped to genes involved in centrosome and cilia function. In this review, we discuss the identified causative mutations that give rise to nephronophthisis and how these are related to the disease etiology in both the kidney and other organs. Copyright (C) 2010 S. Karger AG, Basel

引用

页码：E9 / E14

页数：6

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