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

The role of mitochondrial tRNAPhe C628T variant in deafness expression.

Mitochondrial DNA - 1 Feb 2015

Zhu Qingzhang, Zhou Yuanfeng, Jin Xiaoping, Lin Xianfang

Abstract excerpt

Mutations in mitochondrial genome are one of the most important causes of hearing loss, of these, mitochondrial tRNA (mt-tRNA) genes are the hot spots for mutations associated with deafness. Most recently, a novel mt-tRNA(Phe) C628T variant has been reported to be associated with non-syndromic and sensorineural hearing loss. To test this association, we characterized the C628T variant using a phylogenetic...

Read the complete abstract on PubMed

Topics

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

Share to Databases, Nucleic Acid
Share to Deafness
Share to Genes, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Mitochondrial

Share to Nucleic Acid Conformation

Share to RNA, Mitochondrial

Share to RNA, Transfer, Phe

Share to Thermodynamics

Source

Identifiers

PMID: 24021014
DOI: 10.3109/19401736.2013.823192

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The role of mitochondrial tRNAPhe C628T variant in deafness expression.PMID 24021014Read ↗

Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss.Semantic proximity Read ↗

Disease-related versus polymorphic mutations in human mitochondrial tRNAs. Where is the difference?Semantic proximity Read ↗

Prediction of pathogenic mutations in mitochondrially encoded human tRNAs.Semantic proximity Read ↗

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease.Semantic proximity Read ↗

Mitochondrial tRNASer(UCN) 7471delC may be a novel mutation associated with maternally transmitted hypertension.Semantic proximity Read ↗

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.Semantic proximity Read ↗

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.Semantic proximity Read ↗

Mitochondrial transfer RNA mutations and hypertension.Semantic proximity Read ↗

Novel human mitochondrial tRNA phe mutation in a patient with hearing impairment: a case study.Semantic proximity Read ↗

Impact of disease-related mitochondrial mutations on tRNA structure and function.Semantic proximity Read ↗

Mitochondrial tRNAGly A10055G mutation contributes to non-syndromic hearing loss: a study of three Han Chinese pedigrees.Semantic proximity Read ↗

Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic?Semantic proximity Read ↗

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