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Signaling mechanisms implicated in cranial sutures pathophysiology: Craniosynostosis

机译:颅骨缝线病理生理中涉及的信号转导机制

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Normal extension and skull expansion is a synchronized process that prevails along the osteogenic intersections of the cranial sutures. Cranial sutures operate as bone growth sites allowing swift bone generation at the edges of the bone fronts while they remain patent. Premature fusion of one or more cranial sutures can trigger craniosynostosis, a birth defect characterized by dramatic manifestations in appearance and functional impairment. Up until today, surgical correction is the only restorative measure for craniosynostosis associated with considerable mortality. Clinical studies have identified several genes implicated in the pathogenesis of craniosynostosis syndromes with useful insights into the underlying molecular signaling events that determine suture fate. In this review, we exploit the intracellular signal transduction pathways implicated in suture pathobiology, in an attempt to identify key signaling molecules for therapeutic targeting.
机译:正常的伸展和颅骨扩张是一个同步的过程,普遍存在于颅骨缝线的成骨相交处。颅骨缝线作为骨骼生长部位,可在骨骼前端的边缘迅速生成骨骼,同时仍保持专利。一种或多种颅骨缝线的过早融合会引发颅骨融合症,这是一种先天缺陷,其特征是外观和功能受损。直到今天,外科矫正还是与严重死亡率相关的颅突狭窄的唯一恢复措施。临床研究已鉴定出与颅骨突触综合征相关的几种基因,对确定缝合命运的潜在分子信号事件具有有用的见解。在这篇综述中,我们利用缝合病理生物学中涉及的细胞内信号转导途径,试图鉴定用于治疗靶向的关键信号分子。

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