Evidence map›Paper›PMID 34573359›Full record

Observational studyGenes2021

Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.

Chao-Wen Lin, Ching-Wen Huang, Allen Chilun Luo, Yuh-Tsyr Chou, Yu-Shu Huang, Pei-Lung Chen, Ta-Ching Chen

Open access · goldAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 44% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Current issues in molecular biology · 2023
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Chao-Wen LinDepartment of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan.ORCID 0000-0001-5766-3057
Ching-Wen HuangDepartment of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan.
Allen Chilun LuoDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100, Taiwan.ORCID 0000-0001-6995-6586
Yuh-Tsyr ChouDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100, Taiwan.
Yu-Shu HuangDepartment of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan.
Pei-Lung ChenDepartment of Medical Genetics, National Taiwan University Hospital, Taipei 100, Taiwan.ORCID 0000-0002-5640-3074
Ta-Ching ChenDepartment of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan.
National Taiwan University Hospital · TWNational Taiwan University · TW

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary optic neuropathy (HON) is a group of genetically heterogeneous diseases that cause optic nerve atrophy and lead to substantial visual impairment. HON may present with optic nerve atrophy only or in association with various systemic abnormalities. Although a genetic survey is indispensable for diagnosing HON, conventional sequencing techniques could render its diagnosis challenging. In this study, we attempted to explore the genetic background of patients with HON in Taiwan through capture-based next-generation sequencing targeting 52 HON-related genes. In total, 57 patients from 48 families were recruited, with 6 patients diagnosed as having Leber hereditary optic neuropathy through initial screening for three common variants (m.3460G>A, m.11778G>A, m.14484T>C). Disease-causing genotypes were identified in 14 (33.3%) probands, and

Indexed as

AdolescentAdultAgedChildChild, PreschoolDNA Mutational AnalysisFemaleGenetic CounselingGenetic TestingGTP PhosphohydrolasesHumansMaleMembrane ProteinsMiddle AgedMutationOptic Atrophy, Autosomal DominantGTP PhosphohydrolasesMembrane ProteinsOPA1 protein, humanwolframin proteinautosomal dominant optic atrophyhereditary optic neuropathynext-generation sequencingOPA1WFS1

Identifiers

PMID34573359
PMCPMC8467776
OpenAlexW3196420988

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.