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

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

Trends in genetics : TIG - 1 Dec 2004

McFarland Robert, Elson Joanna L, Taylor Robert W, Howell Neil, Turnbull Douglass M

Abstract excerpt

Some mutations in mitochondrial tRNA (mt-tRNA) genes cause devastating disease, whereas others have no clinical consequences. We understand little of the factors determining the pathogenicity of specific mt-tRNA mutations, making prediction of clinical outcome extremely difficult. Using extensive...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to RNA
Share to RNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RNA, Transfer

Source

Identifiers

PMID: 15522452
DOI: 10.1016/j.tig.2004.09.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15522452-2026-09-02.2. 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

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.PMID 15522452Read ↗

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 ↗

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.Semantic proximity Read ↗

Interpretation of mitochondrial tRNA variants.Semantic proximity Read ↗

Mitochondrial tRNA mutations may be infrequent in hepatocellular carcinoma patients.Semantic proximity Read ↗

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

The molecular pathology of pathogenic mitochondrial tRNA variants.Semantic proximity Read ↗

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

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

PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations.Semantic proximity Read ↗

Functional defects of pathogenic human mitochondrial tRNAs related to structural fragility.Semantic proximity Read ↗

Mitochondrial transfer RNA mutations and hypertension.Semantic proximity Read ↗

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