Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Human genetics - 1 Jul 2002

Ouyang Xiao Mei, Xia Xia Juan, Verpy Elisabeth, Du Li Lin, Pandya Arti, Petit Christine, Balkany Thomas, Nance Walter E, Liu Xue Zhong

Abstract excerpt

We have recently shown that USH1C underlies Usher syndrome type 1c (USH1C), an USH1 subtype characterized by profound deafness, retinitis pigmentosa, and vestibular dysfunction. USH1C encodes a PDZ-domain-containing protein, harmonin. Eight different Ush1c transcripts were identified in the mouse...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Alternative Splicing
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Genes, Recessive

Share to Polymorphism, Single-Stranded Conformational

Share to Protein Isoforms

Share to Syndrome

Source

Identifiers

PMID: 12136232
DOI: 10.1007/s00439-002-0736-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12136232-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.PMID 12136232Read ↗

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.Semantic proximity Read ↗

Novel mutations in the USH1C gene in Usher syndrome patients.Semantic proximity Read ↗

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.Semantic proximity Read ↗

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

Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse.Semantic proximity Read ↗

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.Semantic proximity Read ↗

Expression and subcellular localization of <i>USH1C</i> /harmonin in the human retina provide insights into pathomechanisms and therapySemantic proximity Read ↗

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.Semantic proximity Read ↗

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.Semantic proximity Read ↗

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.Semantic proximity Read ↗

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.