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Article

Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Nature - 2 Mar 1995

Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston M D

Abstract excerpt

Usher syndrome represents the association of a hearing impairment with retinitis pigmentosa and is the most frequent cause of deaf-blindness in humans. It is inherited as an autosomal recessive trait which is clinically and genetically heterogeneous. Some patients show abnormal organization of microtubules in the axoneme of their photoreceptors cells (connecting cilium), nasal ciliar cells and sperm cells, as...

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Identifiers

PMID: 7870171
DOI: 10.1038/374060a0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defective myosin VIIA gene responsible for Usher syndrome type 1B.PMID 7870171Read ↗

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.Semantic proximity Read ↗

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.Semantic proximity Read ↗

The usher syndromes.Semantic proximity Read ↗

Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.Semantic proximity Read ↗

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.Semantic proximity Read ↗

Two Finnish USH1B patients with three novel mutations in myosin VIIA.Semantic proximity Read ↗

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.Semantic proximity Read ↗

Identification of a new mutation of the myosin VII head region in Usher syndrome type 1.Semantic proximity Read ↗

Unconventional myosins and the genetics of hearing loss.Semantic proximity Read ↗

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.Semantic proximity Read ↗

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.Semantic proximity Read ↗

A type VII myosin encoded by the mouse deafness gene shaker-1.Semantic proximity Read ↗

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