2025年3月30日 · USH1C (USH1 Protein Network Component Harmonin) is a Protein Coding gene. Diseases associated with USH1C include Deafness, Autosomal Recessive 18A and …

Usher syndrome type 1c is caused by a mutation at the USH1C locus and is characterized by childhood onset of bilateral sensorineural hearing loss, vestibular dysfunction, and vision loss …

2023年11月8日 · USH1C是一个可导致非综合征型耳聋（DFNB18，MIM：602092）和Usher综合征（MIM：276904）的致病基因，其编码的harmonin蛋白是一种含有多个PDZ结构域的蛋 …

2025年2月8日 · Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1. We report a novel …

2023年2月7日 · The USH1C gene encodes the scaffold protein harmonin which organizes protein networks due to binary interactions with other proteins, such as all USH proteins. Interestingly, …

2023年1月13日 · One of the USH1 genes, USH1C, exhibits extensive alternative splicing and encodes numerous harmonin protein isoforms that function as scaffolds for organizing the …

该基因编码一种支架蛋白，该蛋白在 Usher 蛋白复合物的组装中发挥作用。 该蛋白质包含 PDZ 结构域、具有二分核定位信号的卷曲螺旋区域和 PEST 降解序列。 该基因的缺陷是导致 1C 型 …

2023年2月8日 · We show that harmonin binds to β -catenin, the key effector of the canonical Wnt (cWnt) signaling pathway. We also demonstrate the interaction of the scaffold protein USH1C …

2025年1月4日 · Title: Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy. Identification and computational analysis …

2013年1月16日 · Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa …