构建颅面和骨骼先天性出生缺陷模型以推进治疗方法。
Modeling craniofacial and skeletal congenital birth defects to advance therapies.
作者信息
Neben Cynthia L, Roberts Ryan R, Dipple Katrina M, Merrill Amy E, Klein Ophir D
机构信息
Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.
Center for Craniofacial Molecular Biology, Ostrow School of Dentistry and Department of Biochemistry and Molecular Biology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
出版信息
Hum Mol Genet. 2016 Oct 1;25(R2):R86-R93. doi: 10.1093/hmg/ddw171. Epub 2016 Jun 26.
Craniofacial development is an intricate process of patterning, morphogenesis, and growth that involves many tissues within the developing embryo. Genetic misregulation of these processes leads to craniofacial malformations, which comprise over one-third of all congenital birth defects. Significant advances have been made in the clinical management of craniofacial disorders, but currently very few treatments specifically target the underlying molecular causes. Here, we review recent studies in which modeling of craniofacial disorders in primary patient cells, patient-derived induced pluripotent stem cells (iPSCs), and mice have enhanced our understanding of the etiology and pathophysiology of these disorders while also advancing therapeutic avenues for their prevention.
颅面发育是一个复杂的模式形成、形态发生和生长过程，涉及发育中胚胎内的许多组织。这些过程的基因调控异常会导致颅面畸形，其占所有先天性出生缺陷的三分之一以上。颅面疾病的临床管理已取得重大进展，但目前很少有治疗方法专门针对潜在的分子病因。在此，我们综述了近期的研究，其中在原发性患者细胞、患者来源的诱导多能干细胞（iPSC）和小鼠中对颅面疾病进行建模，增强了我们对这些疾病的病因和病理生理学的理解，同时也推进了预防这些疾病的治疗途径。
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