Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects

Abstract Somatic mutations and dysregulation by microRNAs (miRNAs) may have a pivotal role in the Congenital Heart Defects (CHDs). The purpose of the study was to assess both somatic and germline mutations in the GATA4 and NKX2.5 genes as well as to identify 3′UTR single nucleotide polymorphisms (SN...

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Veröffentlicht in:	Journal of molecular and cellular cardiology 2013-07, Vol.60, p.84-89
Hauptverfasser:	Sabina, Saverio, Pulignani, Silvia, Rizzo, Milena, Cresci, Monica, Vecoli, Cecilia, Foffa, Ilenia, Ait-Ali, Lamia, Pitto, Letizia, Andreassi, Maria Grazia
Format:	Artikel
Sprache:	eng
Schlagworte:	3' Untranslated Regions Adolescent Adult Cardiovascular Cell Line CHD Child Child, Preschool Female GATA4 Transcription Factor - biosynthesis GATA4 Transcription Factor - genetics Gene Expression Regulation Germ-Line Mutation Germline mutations Heart Defects, Congenital - genetics Heart Defects, Congenital - metabolism Humans Male microRNA MicroRNAs - genetics MicroRNAs - metabolism Nuclear Proteins - biosynthesis Nuclear Proteins - genetics Polymorphism, Single Nucleotide SNPs Somatic mutations Thyroid Nuclear Factor 1 Transcription Factors - biosynthesis Transcription Factors - genetics
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