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

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.

Disease models & mechanisms - 1 Aug 2023

Lachgar-Ruiz María, Morín Matías, Martelletti Elisa, Ingham Neil J, Preite Lorenzo, Lewis Morag A, Serrão de Castro Luciana Santos, Steel Karen P, Moreno-Pelayo Miguel Ángel

Abstract excerpt

Non-syndromic sensorineural hearing loss (SNHL) is the most common sensory disorder, and it presents a high genetic heterogeneity. As part of our clinical genetic studies, we ascertained a previously unreported mutation in CCDC50 [c.828_858del, p.(Asp276Glufs*40)] segregating with hearing impairment in a Spanish family with SNHL associated with the autosomal dominant deafness locus DFNA44, which is predicted to...

Read the complete abstract on PubMed

Topics

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

Share to Frameshift Mutation
Share to Hearing Loss

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Intracellular Signaling Peptides and Proteins

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 37165931
DOI: 10.1242/dmm.049757
PMCID: PMC10445743

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.PMID 37165931Read ↗

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.Semantic proximity Read ↗

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.Semantic proximity Read ↗

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.Semantic proximity Read ↗

CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal diseaseSemantic proximity Read ↗

Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.Semantic proximity Read ↗

Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus.Semantic proximity Read ↗

New age-related hearing loss candidate genes in humans: an ongoing challenge.Semantic proximity Read ↗

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.Semantic proximity Read ↗

Toward the pathogenicity of the <i>SLC26A4</i> p.C565Y variant using a genetically driven mouse modelSemantic proximity Read ↗

CCDC88A mutations cause PEHO-like syndrome in humans and mouse.Semantic proximity Read ↗

Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene.Semantic proximity Read ↗

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.Semantic proximity Read ↗

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