title: [Examination of structural changes in the transforming growth factor β receptor 1 (TGFβR1) gene in patients with chronic heart failure].
abstract: We examined nine exons of transforming growth factor β receptor type 1 (TGFβR1) gene in patients with chronic heart failure with different types of heart remodelling. We identified two missense mutations (c.457G>A (p.V1531) and c.1285A>C (p.Y229S)) and two synonym substitutions (c.1125A>C (p.Y377Y) and c.516A>G (p.S172S)), as well as polymorphisms at splicing site c.1024+24G>A (rs334354). Substitutions c.1285A>C (p.Y229S) and c.516A>G (p.S172S) were not previously described.
authors.forename: R I
authors.initials: RI
authors.lastname: Husainova
authors.forename: A E
authors.initials: AE
authors.lastname: Pushkareva
authors.forename: R R
authors.initials: RR
authors.lastname: Valiev
authors.forename: E K
authors.initials: EK
authors.lastname: Husnutdinova
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D005091:Exons; D005260:Female; D006333:Heart Failure / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D022821:RNA Splice Sites; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I