ArticleJournal of cellular and molecular medicine2020
Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
Article in Journal of cellular and molecular medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 23 citations in OpenAlex.
- [Integrating Bioinformatics and Machine Learning Algorithms to Screen Inflammatory Biomarkers for Atrial Fibrillation and Experimental Validation].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026Article
- FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population.BMC medical genomics · 2024Article
- Current genetic models for studying congenital heart diseases: Advantages and disadvantages.Bioinformation · 2024Article
- Genetic Variants ofBiomolecules · 2023Article
- Genetic Variants ofJournal of cardiovascular development and disease · 2022Article
- Identification ofFrontiers in genetics · 2022Article
- Integrated bioinformatics analysis reveals novel key biomarkers and potential candidate small molecule drugs in gestational diabetes mellitus.Bioscience reports · 2021Article
- Genetic analysis of the CITED2 gene promoter in isolated and sporadic congenital ventricular septal defects.Journal of cellular and molecular medicine · 2021Article
- Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.Journal of cellular and molecular medicine · 2020Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart disease (CHD) associated with polydactyly involves various genes. We aimed to identify variations from genes related to complex CHD with polydactyly and to investigate the cellular functions related to the mutations. Blood was collected from a complex CHD case with polydactyly, and whole exome sequencing (WES) was performed. The CRISPR/Cas9 system was used to generate human pluripotent stem cell with mutations (hPSCs-Mut) that were differentiated into cardiomyocytes (hPSC-CMs-Mut) and analysed by transcriptomics on day 0, 9 and 13. Two heterozygous mutations, LTBP2 (c.2206G>A, p.Asp736Asn, RefSeq NM_000428.2) and TCTN3 (c.1268G>A, p.Gly423Glu, RefSeq NM_015631.5), were identified via WES but no TBX5 mutations were found. The stable cell lines of hPSCs-LTBP2
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