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

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

American journal of human genetics - 12 Feb 2010

Schraders Margit, Lee Kwanghyuk, Oostrik Jaap, Huygen Patrick L M, Ali Ghazanfar, Hoefsloot Lies H, Veltman Joris A, Cremers Frans P M, Basit Sulman, Ansar Muhammad, Cremers Cor W R J, Kunst Henricus P M, Ahmad Wasim, Admiraal Ronald J C, Leal Suzanne M, Kremer Hannie

Abstract excerpt

We identified overlapping homozygous regions within the DFNB25 locus in two Dutch and ten Pakistani families with sensorineural autosomal-recessive nonsyndromic hearing impairment (arNSHI). Only one of the families, W98-053, was not consanguineous, and its sibship pointed toward a reduced critica...

Read the complete abstract on PubMed

Topics

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

Share to Cochlea
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glutaredoxins

Share to Hearing Loss

Share to Lod Score

Share to Organ Specificity

Share to RNA Splicing

Share to Vestibule, Labyrinth

Source

Open in PubMed Open full text

Identifiers

PMID: 20137778
DOI: 10.1016/j.ajhg.2009.12.017
PMCID: PMC2820176

Genes

GRXCR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20137778-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.PMID 20137778Read ↗

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.Semantic proximity Read ↗

A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures.Semantic proximity Read ↗

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.Semantic proximity Read ↗

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.Semantic proximity Read ↗

GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.Semantic proximity Read ↗

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.Semantic proximity Read ↗

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.Semantic proximity Read ↗

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.Semantic proximity Read ↗

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.Semantic proximity Read ↗

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionSemantic proximity Read ↗

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.Semantic proximity Read ↗

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.Semantic proximity Read ↗

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