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 …

Dec 25, 2024 · USH1C (USH1 Protein Network Component Harmonin) is a Protein Coding gene. Diseases associated with USH1C include Deafness, Autosomal Recessive 18A and Usher …

Feb 8, 2025 · Mutations in USH1C are responsible for 1.5% of Usher syndrome type I disease in patients of Spanish origin. Observational study of genetic testing. (HuGE Navigator)

Jul 6, 2020 · The USH1C mice show hearing, balance, and visual dysfunction similar to patients. Her laboratory uses this Usher mouse model to understand the underlying mechanisms that …

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. To date, …

Feb 7, 2023 · 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 …

Jan 13, 2023 · Subcellular expression and colocalization of harmonin correlate with the clinical phenotype observed in USH1C patients. We also demonstrate that primary cilia defects in …

One of the USH1 genes, USH1C, exhibits extensive alternative splicing and encodes numerous harmonin protein isoforms that function as scaffolds for organizing the USH interactome. RNA …

Jun 17, 2024 · Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.

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