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Article

The usher syndromes.

American journal of medical genetics - 24 Sept 1999

Keats B J, Corey D P

Abstract excerpt

Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndrome (USH), a clinically heterogeneous autosomal recessive disorder comprising hearing and visual impairment....

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Identifiers

PMID: 10704190

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The usher syndromes.PMID 10704190Read ↗

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Semantic proximity Read ↗

Disease mechanisms and gene therapy for Usher syndrome.Semantic proximity Read ↗

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.Semantic proximity Read ↗

[Genetics of Usher syndrome].Semantic proximity Read ↗

Defective myosin VIIA gene responsible for Usher syndrome type 1B.Semantic proximity Read ↗

[Molecular updates on Usher syndrome].Semantic proximity Read ↗

Update on Usher syndrome.Semantic proximity Read ↗

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.Semantic proximity Read ↗

Review of Genotype-Phenotype Correlations in Usher Syndrome.Semantic proximity Read ↗

Current updates on genetic spectrum of usher syndromeSemantic proximity Read ↗

Usher Syndrome: Genetics of a Human Ciliopathy.Semantic proximity Read ↗

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.Semantic proximity Read ↗

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