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Role of thyroid hormones in craniofacial development.
Nature Reviews Endocrinology ( IF 31.0 ) Pub Date : 2020-01-23 , DOI: 10.1038/s41574-019-0304-5
Victoria D Leitch 1, 2 , J H Duncan Bassett 1 , Graham R Williams 1
Affiliation  

The development of the craniofacial skeleton relies on complex temporospatial organization of diverse cell types by key signalling molecules. Even minor disruptions to these processes can result in deleterious consequences for the structure and function of the skull. Thyroid hormone deficiency causes delayed craniofacial and tooth development, dysplastic facial features and delayed development of the ossicles in the middle ear. Thyroid hormone excess, by contrast, accelerates development of the skull and, in severe cases, might lead to craniosynostosis with neurological sequelae and facial hypoplasia. The pathogenesis of these important abnormalities remains poorly understood and underinvestigated. The orchestration of craniofacial development and regulation of suture and synchondrosis growth is dependent on several critical signalling pathways. The underlying mechanisms by which these key pathways regulate craniofacial growth and maturation are largely unclear, but studies of single-gene disorders resulting in craniofacial malformations have identified a number of critical signalling molecules and receptors. The craniofacial consequences resulting from gain-of-function and loss-of-function mutations affecting insulin-like growth factor 1, fibroblast growth factor receptor and WNT signalling are similar to the effects of altered thyroid status and mutations affecting thyroid hormone action, suggesting that these critical pathways interact in the regulation of craniofacial development.

中文翻译:

甲状腺激素在颅面发育中的作用。

颅面骨骼的发育取决于关键信号分子对各种细胞类型的复杂颞组织的影响。这些过程即使是很小的破坏也会对头骨的结构和功能造成有害的后果。甲状腺激素缺乏会导致颅面和牙齿发育延迟,面部发育异常以及中耳小骨发育延迟。相反,过量的甲状腺激素会加速颅骨的发育,在严重的情况下,可能会导致颅前突并发神经后遗症和面部发育不全。这些重要异常的发病机理仍知之甚少,研究不足。颅面发育的编排以及缝合线和软骨融合的调节取决于几种关键的信号通路。这些关键途径调控颅面生长和成熟的基本机制尚不清楚,但是对导致颅面畸形的单基因疾病的研究已经发现了许多关键的信号分子和受体。影响胰岛素样生长因子1,成纤维细胞生长因子受体和WNT信号的功能获得和功能丧失突变产生的颅面后果与甲状腺状态改变和影响甲状腺激素作用的突变相似。这些关键途径在颅面发育的调控中相互作用。但是对导致颅面畸形的单基因疾病的研究已经发现了许多关键的信号分子和受体。影响胰岛素样生长因子1,成纤维细胞生长因子受体和WNT信号的功能获得和功能丧失突变所致的颅面后果与甲状腺状态改变和影响甲状腺激素作用的突变所产生的影响相似,表明这些关键途径在颅面发育的调控中相互作用。但是对导致颅面畸形的单基因疾病的研究已经发现了许多关键的信号分子和受体。影响胰岛素样生长因子1,成纤维细胞生长因子受体和WNT信号的功能获得和功能丧失突变产生的颅面后果与甲状腺状态改变和影响甲状腺激素作用的突变相似。这些关键途径在颅面发育的调控中相互作用。
更新日期:2020-01-23
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