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

Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy.

Irish journal of medical science - 1 Apr 2022

Shuai Jie, Shi Jian, Liang Ya, Ji Fangfang, Gu Luo, Yuan Zhilan

Abstract excerpt

INTRODUCTION: Mutations in mitochondrial DNA (mtDNA) are the most important causes for Leber's hereditary optic neuropathy (LHON). Of these, three primary mtDNA mutations account for more than 90% cases of this disease. However, to date, little is known regarding the relationship between mitochondrial tRNA (mt-tRNA) variants and LHON. AIM: In this study, we aimed to investigate the association between mt-tRNA...

Read the complete abstract on PubMed

Topics

DNA, Mitochondrial
Humans
Mutation
Optic Atrophy, Hereditary, Leber
Phylogeny
RNA, Transfer

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34053002
DOI: 10.1007/s11845-021-02656-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy.PMID 34053002Read ↗

Mitochondrial tRNA variants in 811 Chinese probands with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Mitochondrial tRNAThr 15891C>G mutation was not associated with Leber's hereditary optic neuropathy in Han Chinese patients.Semantic proximity Read ↗

Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family.Semantic proximity Read ↗

Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber's hereditary optic neuropathy (LHON).Semantic proximity Read ↗

Analysis of secondary mtDNA mutations in families with Leber's hereditary optic neuropathy: Four novel variants and their association with clinical presentation.Semantic proximity Read ↗

[Study on three common mitochondrial DNA mutations in Leber's hereditary optic neuropathy].Semantic proximity Read ↗

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).Semantic proximity Read ↗

Analysis of Three Primary mtDNA Mutations in 155 Patients with Leber’s Hereditary Optic NeuropathySemantic proximity Read ↗

In silico model of mtDNA mutations effect on secondary and 3D structure of mitochondrial rRNA and tRNA in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

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