skip to main content
Idioma:

In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease

Abbasi, Shiva ; Mohsen-Pour, Neda ; Naderi, Niloofar ; Rahimi, Shahin ; Maleki, Majid ; Kalayinia, Samira

Journal of cardiovascular and thoracic research, 2021-12, Vol.13 (4), p.336-354 [Periódico revisado por pares]

Iran: Tabriz University of Medical Sciences

Texto completo disponível

Citações Citado por
  • Título:
    In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease
  • Autor: Abbasi, Shiva ; Mohsen-Pour, Neda ; Naderi, Niloofar ; Rahimi, Shahin ; Maleki, Majid ; Kalayinia, Samira
  • Assuntos: Amino acids ; Bioinformatics ; Cardiovascular disease ; Congenital diseases ; congenital heart disease ; gata4 ; Genes ; Genomes ; Heart ; in silico analysis ; Mortality ; Mutation ; Original ; Pathogenesis ; Polymorphism ; Proteins ; transcription factor ; Transcription factors
  • É parte de: Journal of cardiovascular and thoracic research, 2021-12, Vol.13 (4), p.336-354
  • Notas: ObjectType-Article-1
    SourceType-Scholarly Journals-1
    ObjectType-Feature-2
    content type line 23
  • Descrição: Congenital heart disease (CHD) is the most common congenital abnormality and the main cause of infant mortality worldwide. Some of the mutations that occur in the gene region may result in different types of CHD. Here, we report our analysis of gene variants to determine the effects of the gene on the development of CHD. Online 1000 Genomes Project, ExAC, gnomAD, GO-ESP, TOPMed, Iranome, GME, ClinVar, and HGMD databases were drawn upon to collect information on all the reported variations.The functional importance of the genetic variants was assessed by using SIFT, MutationTaster, CADD,PolyPhen-2, PROVEAN, and GERP prediction tools. Thereafter, network analysis of the GATA4protein via STRING, normal/mutant protein structure prediction via HOPE and I-TASSER, and phylogenetic assessment of the sequence alignment via ClustalW were performed. The most frequent variant was c.874T>C (45.58%), which was reported in Germany.Ventricular septal defect was the most frequent type of CHD. Out of all the reported variants of ,38 variants were pathogenic. A high level of pathogenicity was shown for p.Gly221Arg (CADD score=31), which was further analyzed. The gene plays a significant role in CHD; we, therefore, suggest that it be accorded priority in CHD genetic screening.
  • Editor: Iran: Tabriz University of Medical Sciences
  • Idioma: Inglês
Links
Voltar para lista de resultados

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.