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颅面发育与畸形的遗传学

Genetics of craniofacial development and malformation.

作者信息

Wilkie A O, Morriss-Kay G M

机构信息

Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe, Oxford OX3 9DS, UK.

出版信息

Nat Rev Genet. 2001 Jun;2(6):458-68. doi: 10.1038/35076601.

Abstract

The head is anatomically the most sophisticated part of the body and its evolution was fundamental to the origin of vertebrates; understanding its development is a formidable problem in biology. A synthesis of embryology, evolution and mouse genetics is shaping our understanding of head development and in this review we discuss its application to studies of human craniofacial malformations. Many of these disorders have their origins in specific embryological processes, including abnormalities of brain patterning, of the migration and fusion of tissues in the face, and of bone differentiation in the skull vault.

摘要

从解剖学角度来看,头部是人体最复杂的部位,其进化对于脊椎动物的起源至关重要;了解其发育过程是生物学中一个极具挑战性的问题。胚胎学、进化生物学和小鼠遗传学的综合研究正在塑造我们对头部发育的理解,在本综述中,我们将讨论其在人类颅面畸形研究中的应用。许多此类疾病起源于特定的胚胎学过程,包括脑模式异常、面部组织迁移和融合异常以及颅顶骨分化异常。

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