Evidence map›Paper›PMID 35440950›Full record

ArticleDisease markers2022

PTPN11 Gene Mutations and Its Association with the Risk of Congenital Heart Disease.

Zi-Qing Xu, Wei-Cheng Chen, Yu-Jie Li, Mei-Jiao Suo, Gui-Xiang Tian, Wei Sheng, Guo-Ying Huang

RetractedOpen access · hybridAbstract readRetracted Publication
In one paragraph

Article in Disease markers, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 39% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Discovery ofBiology · 2023
    Article
  3. Article
  4. Article
  5. Identification ofDiagnostics (Basel, Switzerland) · 2022
    Article
  6. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Zi-Qing XuChildren's Hospital of Fudan University, Shanghai, China.
Wei-Cheng ChenChildren's Hospital of Fudan University, Shanghai, China.
Yu-Jie LiChildren's Hospital of Fudan University, Shanghai, China.
Mei-Jiao SuoChildren's Hospital of Fudan University, Shanghai, China.
Gui-Xiang TianChildren's Hospital of Fudan University, Shanghai, China.
Wei ShengChildren's Hospital of Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0003-0145-3258
Guo-Ying HuangChildren's Hospital of Fudan University, Shanghai, China.ORCID https://orcid.org/0000-0003-0505-5839
Children's Hospital of Fudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital heart disease (CHD) is the most common congenital birth defect, with a prevalence of 8.98‰ of all live births in China. PTPN11 has been known to be closely involved in heart developments. In this research, we carried out whole-exome sequencing in nine CHD families and identified eight rare deleterious missense variants of PTPN11 gene in nine probands by stringently filtering criteria. Sanger sequencing of these probands and their unaffected familiar members revealed that six damaging variants were de novo in seven CHD families. Then, targeted sequencing was used to assess the PTPN11 exon variants in 672 sporadic CHD cases and 399 unrelated controls and identified 7 deleterious missense variants in 8 patients. Fisher's exact test reveals a significant association of PTPN11 variations with CHD (

Indexed as

Heart Defects, CongenitalChinaExome SequencingHumansMutation, MissensePhenotypeProtein Tyrosine Phosphatase, Non-Receptor Type 11Protein Tyrosine Phosphatase, Non-Receptor Type 11PTPN11 protein, human

Identifiers

PMID35440950
PMCPMC9013483
OpenAlexW4223494714

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.