Making the invisible visible

详细信息    查看全文

• 作者：Maurice A.M. van Steensel^a ; ^b ; ^{maurice.vansteensel@imb.a-star.edu.sg" class="auth_mail" title="E-mail the corresponding author}
• 关键词：ACTH ; adrenocorticotropic hormone ; ADAM10 ; a disintegrin and metalloprotease 10 ; ADAR ; adenosine deaminase acting on RNA ; AP1/3 ; adaptor protein 1/3 ; BLOC1-3 ; biogenesis of lysosome-related organelles complex 1&ndash ; 3 ; DCT ; dopachrome tautomerase ; DSRAD ; double-stranded RNA-specific adenosine deaminase ; GNAQ ; G protein Gqα subunit ; LYST ; lysosomal trafficking regulator ; MATP ; membrane-associated transporter protein ; MITF ; microphtalmia associated transcription factor ; MYO5A ; myosin 5A ; PAR2 ; pr
• 刊名：Seminars in Cell & Developmental Biology
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：52
• 期：Complete
• 页码：58-65
• 全文大小：2013 K

文摘

In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from lipid metabolism to vesicular transport and cellular migration. However, in contrast to other organ systems, they are accessible and can be studied with relative ease. By visually revealing the functional consequences of single gene defects, genetic skin diseases offer a unique opportunity to study human biology. Here, I will illustrate this concept by discussing how human genetic disorders of skin pigmentation reflect the mechanisms underlying this complex and vital process.