Cutaneous Biology Research Center, Massachusetts General Hospital, Department of Dermatology, Harvard Medical School, Boston, Massachusetts, USA.
J Invest Dermatol. 2015 Mar;135(3):666-672. doi: 10.1038/jid.2014.413. Epub 2014 Oct 30.
The molecular mechanisms that control skin morphogenesis are complex and only incompletely understood. Aplasia cutis manifests with localized skin defects at birth and is a feature in various syndromes. Identifying the genes that cause these genetic skin conditions provides the opportunity to define novel regulators of skin morphogenesis. Recently, human genetic approaches have led to the identification of aplasia cutis-causing mutations in genes that have previously not been implicated to have an important role in skin biology. These findings reveal novel molecular mechanisms that are involved in skin formation during development.
控制皮肤形态发生的分子机制很复杂，目前只是部分了解。先天性皮肤发育不全表现为出生时局部皮肤缺陷，是多种综合征的特征之一。确定导致这些遗传性皮肤疾病的基因，为研究皮肤形态发生的新调控因子提供了机会。最近，通过人类遗传学方法，发现了以前未被认为在皮肤生物学中起重要作用的基因引起先天性皮肤发育不全的突变。这些发现揭示了发育过程中参与皮肤形成的新分子机制。
