Usher syndrome

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'Usher syndrome' can also refer to...

Usher syndrome

Usher syndrome

Usher syndrome

Usher syndrome

Usher's syndrome

Usher syndrome: molecular links of pathogenesis, proteins and pathways

Interactions in the network of Usher syndrome type 1 proteins

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis

Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation†

Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10

Myosin VIIA Gene: Heterogeneity of the Mutations Responsible for Usher Syndrome Type IB

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells


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A rare, autosomal recessive syndrome of congenital deafness and progressive blindness. Type IB/1A is caused by mutation in the myosin-7A gene that encodes an unconventional myosin that is expressed in hair cells, type 1C by mutations in harmonin, type 1D by mutations in otocadherin, type 1F by mutations in protocadherin 15, type 1G by mutation in the SANS gene. Other type 1 variants have been mapped but specific genes have not been identified. Usher's syndrome type 2 is similar but the hearing loss is less profound and vestibular function is normal. Type 2A is caused by mutation in the usherin gene, type 2B is linked to chromosome 3p, type 2C involves mutation in the GPR98 gene (a G-protein-coupled receptor), and type 2D by mutation in the whirlin gene. Usher's syndrome type 3, in which there is progressive hearing loss, is caused by mutation in the clarin 1 gene.

Subjects: Medicine and Health — Chemistry.

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