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

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

BMC medical genetics - 21 Dec 2007

Ballana Ester, Mercader Josep Maria, Fischel-Ghodsian Nathan, Estivill Xavier

Abstract excerpt

BACKGROUND: Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Defensins
Share to Chromosomes, Human, Pair 8
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Multigene Family

Share to Pseudogenes

Share to RNA, Ribosomal

Source

Open in PubMed Open full text

Identifiers

PMID: 18154640
DOI: 10.1186/1471-2350-8-81
PMCID: PMC2233610

Genes

DEFA3
CLDN23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18154640-2026-09-02.2. 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

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.PMID 18154640Read ↗

Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.Semantic proximity Read ↗

Screening for mitochondrial 12S rRNA C1494T mutation in 655 patients with non-syndromic hearing loss: An observational study.Semantic proximity Read ↗

[Modifier factors influencing the phenotypic manifestation of the deafness associated mitochondrial DNA mutations].Semantic proximity Read ↗

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.Semantic proximity Read ↗

Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families.Semantic proximity Read ↗

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.Semantic proximity Read ↗

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.Semantic proximity Read ↗

A maternal hereditary deafness pedigree of the A1555G mitochondrial mutation, causing aminoglycoside ototoxicity predisposition.Semantic proximity Read ↗

Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.Semantic proximity Read ↗

Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.Semantic proximity Read ↗

Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.Semantic proximity Read ↗

Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.Semantic proximity Read ↗

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