Evidence map›Paper›PMID 36979038›Full record

ArticleBiology2023

Discovery of

Yan-Jie Li, Juan Wang, Willy G Ye, Xing-Yuan Liu, Li Li, Xing-Biao Qiu, Honghong Chen, Ying-Jia Xu, Yi-Qing Yang, Donglin Bai and 1 more

Open access · goldFull text read
In one paragraph

Article in Biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.5field-weighted citation impact, top 11% 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

15 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. Genetic loci responsible for atrioventricular block in children.Frontiers in cell and developmental biology · 2026
    Review
  4. Discovery ofDiagnostics (Basel, Switzerland) · 2025
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  5. Discovery ofDiagnostics (Basel, Switzerland) · 2025
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  6. Article
  7. Article
  8. Chromosomal Location and Identification ofDiagnostics (Basel, Switzerland) · 2025
    Article
  9. Identification and Functional Investigation ofDiagnostics (Basel, Switzerland) · 2024
    Article
  10. Article
  11. Article
  12. SomaticExperimental and therapeutic medicine · 2024
    Article
  13. Discovery and functional investigation ofAmerican journal of translational research · 2024
    Article
  14. Discovery ofAmerican journal of translational research · 2024
    Article
  15. 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

11 authors at 5 institutions in 2 countries.

Yan-Jie LiDepartment of Cardiology, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China.
Juan WangDepartment of Cardiology, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200032, China.
Willy G YeDepartment of Physiology and Pharmacology, Schulich School of Medicine & Dentistry, The University of Western Ontario, London, ON N6A 5C1, Canada.
Xing-Yuan LiuDepartment of Pediatrics, Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, China.
Li LiKey Laboratory of Arrhythmias, Ministry of Education of China, School of Medicine, Tongji University, Shanghai 200092, China.
Xing-Biao QiuDepartment of Cardiology, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China.
Honghong ChenDepartment of Physiology and Pharmacology, Schulich School of Medicine & Dentistry, The University of Western Ontario, London, ON N6A 5C1, Canada.
Ying-Jia XuDepartment of Cardiology, Shanghai Fifth People's Hospital, Fudan University, Shanghai 200240, China.
Yi-Qing YangDepartment of Cardiology, Shanghai Fifth People's Hospital, Fudan University, Shanghai 200240, China.ORCID 0000-0003-0291-8395
Donglin BaiDepartment of Physiology and Pharmacology, Schulich School of Medicine & Dentistry, The University of Western Ontario, London, ON N6A 5C1, Canada.ORCID 0000-0003-1112-6947
Ri-Tai HuangDepartment of Cardiovascular Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Shanghai Jiao Tong University · CNWestern University · CAFudan University · CNTongji University · CNShanghai University of Traditional Chinese Medicine · CN

Funding

The Basic Research Project of Shanghai, China 20JC1418800The Canadian Institutes of Health Research 153415The Fundamental Research Fund for the Central Universities 15072150004The National Natural Science Foundation of China 81641014The Natural Science Foundation of Shanghai, China 18ZR1431000The Natural Sciences and Engineering Research Council of Canada 288241The Science and Technology Innovation Action Star Project of Shanghai, China 22YF1443000
6 · The paper itself

Abstract

As the most prevalent type of birth malformation, congenital heart disease (CHD) gives rise to substantial mortality and morbidity as well as a socioeconomic burden. Although aggregating investigations highlight the genetic basis for CHD, the genetic determinants underpinning CHD remain largely obscure. In this research, a Chinese family suffering from autosomal dominant CHD (atrial septal defect) and arrhythmias was enrolled. A genome-wide genotyping with microsatellite markers followed by linkage assay as well as sequencing analysis was conducted. The functional effects of the discovered genetic mutation were characterized by dual patch-clamp electrophysiological recordings in N2A cells and propidium iodide uptake assays in HeLa cells. As a result, a novel genetic locus for CHD and arrhythmias was located on chromosome 17q21.31-q21.33, a 4.82-cM (5.12 Mb) region between two markers of D17S1861 and D17S1795. Sequencing assays of the genes at the mapped locus unveiled a novel heterozygous mutation in the

Indexed as

arrhythmiaatrioventricular blockcardiac septal defectcongenital heart diseasegap junction channelGJC1molecular geneticspatch clamp electrophysiology

Identifiers

PMID36979038
PMCPMC10045734
OpenAlexW4321496572

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read33
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.