Evidence map›Paper›PMID 31835587›Full record

ArticleInternational journal of molecular sciences2019

A Novel

Lung-An Hsu, Yu-Shien Ko, Yung-Hsin Yeh, Chi-Jen Chang, Yi-Hsin Chan, Chi-Tai Kuo, Hsin-Yi Tsai, Gwo-Jyh Chang

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 26% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (Circulation. Genomic and precision medicine · 2025
    Pooled it
  2. A NovelInternational journal of molecular sciences · 2023
    Article
  3. Article
  4. 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

8 authors at 1 institution in 1 country.

Lung-An HsuCardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan 33305, Taiwan.ORCID 0000-0002-0012-2804
Yu-Shien KoCardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan 33305, Taiwan.
Yung-Hsin YehCardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan 33305, Taiwan.
Chi-Jen ChangCardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan 33305, Taiwan.
Yi-Hsin ChanCardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan 33305, Taiwan.
Chi-Tai KuoCardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan 33305, Taiwan.
Hsin-Yi TsaiCardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan 33305, Taiwan.
Gwo-Jyh ChangGraduate Institute of Clinical Medical Sciences, Chang Gung University, Tao-Yuan 33305, Taiwan.ORCID 0000-0001-6967-8758
Chang Gung University · TW

Funding

Chang Gung Memorial Hospital CMRPG3F1681, CMRPG3F1682, and CMRPG3E0871
6 · The paper itself

Abstract

Inherited cardiac conduction disease (CCD) is rare; it is caused by a large number of mutations in genes encoding cardiac ion channels and cytoskeletal proteins. Recently, whole-exome sequencing has been successfully used to identify causal mutations for rare monogenic Mendelian diseases. We used trio-based whole-exome sequencing to study a Chinese family with multiple family members affected by CCD, and identified a heterozygous missense mutation (c.343C>T, p.Leu115Phe) in the desmin

Indexed as

Mutation, MissenseAdultAgedAnimalsAsian PeopleCardiac Conduction System DiseaseDesminExome SequencingFemaleHeLa CellsHomozygoteHumansMaleMiceMiddle AgedPedigreeDesmincardiac conduction diseasedesminexome sequencing

Identifiers

PMID31835587
PMCPMC6940838
OpenAlexW2994879933

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.