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

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.

American journal of medical genetics. Part A - 15 Oct 2007

Kalay Ersan, Uzumcu Abdullah, Krieger Elmar, Caylan Refik, Uyguner Oya, Ulubil-Emiroglu Melike, Erdol Hidayet, Kayserili Hülya, Hafiz Gunter, Başerer Nermin, Heister Angelien J G M, Hennies Hans C, Nürnberg Peter, Başaran Seher, Brunner Han G, Cremers Cor W R J, Karaguzel Ahmet, Wollnik Bernd, Kremer Hannie

Abstract excerpt

Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent fine mapping in two Turkish families with ARNSHI revealed significant linkage to a critical interval harboring a known deafness gene...

Read the complete abstract on PubMed

Topics

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

Share to Hearing Loss
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydrophobic and Hydrophilic Interactions

Share to Models, Molecular

Share to Myosins

Share to Protein Structure, Tertiary

Share to Turkey

Share to Valine

Source

Identifiers

PMID: 17853461
DOI: 10.1002/ajmg.a.31937

Variants

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

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.PMID 17853461Read ↗

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.Semantic proximity Read ↗

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.Semantic proximity Read ↗

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.Semantic proximity Read ↗

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.Semantic proximity Read ↗

Screening of the DFNB3 locus: identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus.Semantic proximity Read ↗

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.Semantic proximity Read ↗

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Semantic proximity Read ↗

[Genetic and phenotypic analysis of MYO15A rare variants associated with autosomal recessive hearing loss].Semantic proximity Read ↗

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.Semantic proximity Read ↗

Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing LossSemantic proximity Read ↗

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.Semantic proximity Read ↗

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.Semantic proximity Read ↗

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