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色素沉着紊乱的遗传学

Genetics of pigmentary disorders.

作者信息

Tomita Yasushi, Suzuki Tamio

机构信息

Department of Dermatology, Nagoya University Graduate School of Medicine, Showa-ku, Japan.

出版信息

Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):75-81. doi: 10.1002/ajmg.c.30036.

Abstract

The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome 1-7 (HPS1-7); Chediak-Higashi syndrome 1 (CHS1). (3) Disorders of melanin synthesis in the melanosome: oculocutaneous albinism 1-4 (OCA1-4). (4) Disorders of mature melanosome transfer to the tips of the dendrites Griscelli syndrome 1-3 (GS1-3). These disorders are presented and their gene mutations and pathogenesis are discussed.

摘要

在过去十年中,各种类型先天性色素沉着障碍的遗传和分子基础已被分类如下:(1)胚胎期黑素母细胞从神经嵴迁移至皮肤的障碍:斑驳病;瓦登伯革氏综合征1 - 4型(WS1 - WS4);遗传性对称性色素异常症。(2)黑素细胞中黑素体形成的障碍:赫尔曼斯基 - 普德拉克综合征1 - 7型(HPS1 - 7);切迪阿克 - 东综合征1型(CHS1)。(3)黑素体内黑色素合成的障碍:眼皮肤白化病1 - 4型(OCA1 - 4)。(4)成熟黑素体转移至树突尖端的障碍:格里斯塞利综合征1 - 3型(GS1 - 3)。本文介绍了这些障碍,并讨论了它们的基因突变和发病机制。

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