A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome

Human multiple synostoses syndrome (SYNS) is an autosomal dominant disorder characterized by multiple joint fusions. We previously identified a point mutation (S99N) in FGF9 that causes human SYNS3. However, the physiological function of FGF9 during joint development and comprehensive molecular port...

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Veröffentlicht in:	Human molecular genetics 2017-04, Vol.26 (7), p.1280-1293
Hauptverfasser:	Tang, Lingyun, Wu, Xiaolin, Zhang, Hongxin, Lu, Shunyuan, Wu, Min, Shen, Chunling, Chen, Xuejiao, Wang, Yicheng, Wang, Weigang, Shen, Yan, Gu, Mingmin, Ding, Xiaoyi, Jin, Xiaolong, Fei, Jian, Wang, Zhugang
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Carpal Bones - abnormalities Carpal Bones - physiopathology Cell Differentiation - genetics Chondrogenesis - genetics Fibroblast Growth Factor 9 - biosynthesis Fibroblast Growth Factor 9 - chemistry Fibroblast Growth Factor 9 - genetics Foot Deformities, Congenital - genetics Foot Deformities, Congenital - physiopathology Gene Expression Regulation, Developmental Growth Differentiation Factor 5 - genetics Hand Deformities, Congenital - genetics Hand Deformities, Congenital - physiopathology Humans Joints - growth & development Joints - pathology Mice Point Mutation Protein Conformation Signal Transduction SOX9 Transcription Factor - genetics SOXD Transcription Factors - genetics Stapes - abnormalities Stapes - physiopathology Synostosis - genetics Synostosis - physiopathology Tarsal Bones - abnormalities Tarsal Bones - physiopathology
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