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人类孤立遗传性指甲疾病的遗传学研究。

Genetics of human isolated hereditary nail disorders.

机构信息

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, Khyber Pakhtunkhwa, Pakistan.

Genomic Core Facility, interim Translational Research Institute (iTRI), Academic Health System, Hamad Medical Corporation, 3050 Doha, Qatar.

出版信息

Br J Dermatol. 2015 Oct;173(4):922-9. doi: 10.1111/bjd.14023. Epub 2015 Sep 8.

Abstract

Human hereditary nail disorders constitute a rare and heterogeneous group of ectodermal dysplasias. They occur as isolated and/or syndromic ectodermal conditions where other ectodermal appendages are also involved, and can occur associated with skeletal dysplasia. 'Nail disorder, nonsyndromic congenital' (OMIM; Online Mendelian Inheritance in Man) is subclassified into 10 different types. The underlying genes identified thus far are expressed in the nail bed and play important roles in nail development and morphogenesis. Here, we review the current literature on nail disorders and present a coherent review on the genetics of nail disorders. This review will pave the way to identifying putative genes and pathways involved in nail development and morphogenesis.

摘要

人类遗传性指甲疾病构成了一组罕见且异质性的外胚层发育不良。它们作为孤立的和/或综合征性外胚层疾病出现,其中其他外胚层附属物也受到影响,并且可以与骨骼发育不良相关发生。“非综合征性先天性指甲疾病”(OMIM;在线孟德尔遗传数据库)分为 10 种不同类型。迄今为止,已经确定的潜在基因在指甲床中表达,并在指甲发育和形态发生中发挥重要作用。在这里,我们回顾了指甲疾病的现有文献,并对指甲疾病的遗传学进行了综合综述。这篇综述将为确定参与指甲发育和形态发生的假定基因和途径铺平道路。

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