ArticleAmerican journal of translational research2022
SOX7 loss-of-function variation as a cause of familial congenital heart disease.
Article in American journal of translational research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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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.
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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.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Identification and Functional Investigation ofDiagnostics (Basel, Switzerland) · 2024Article
- SomaticExperimental and therapeutic medicine · 2024Article
- Discovery ofAmerican journal of translational research · 2024Article
- Discovery and functional investigation ofAmerican journal of translational research · 2024Article
- SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.Human molecular genetics · 2023Article
- Discovery ofBiology · 2023Article
- Identification ofDiagnostics (Basel, Switzerland) · 2023Article
- Identification ofDiagnostics (Basel, Switzerland) · 2022Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAs the most frequent type of birth defect in humans, congenital heart disease (CHD) leads to a large amount of morbidity and mortality as well as a tremendous socioeconomic burden. Accumulating studies have convincingly substantiated the pivotal roles of genetic defects in the occurrence of familial CHD, and deleterious variations in a great number of genes have been reported to cause various types of CHD. However, owing to pronounced genetic heterogeneity, the hereditary components underpinning CHD remain obscure in most cases. This investigation aimed to identify novel genetic determinants underlying CHD. METHODS AND
resultsA four-generation pedigree with high incidence of autosomal-dominant CHD was enrolled from the Chinese Han race population. Using whole-exome sequencing and Sanger sequencing assays of the family members available, a novel
conclusionThe present study demonstrates for the first time that genetically defective
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Registered trials
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