The aberrant expression of muteins as well as downstream target genes along with compromised activities of promoters substantiate the pathogenic potential of the identified IRX4 variants and underscore the critical role of IRX4 in regulating multiple stages of cardiogenesis.
The findings suggest that LRP1 haploinsufficiency is associated with a syndromic NDD, and Phenotypic differences in cardiac and neurologic involvement between participants with pLOF and missense variants suggest the possibility of alternate disease mechanisms.
Alyssa L. Rippert, G. Arnadottir, Laura Bedinger et al.· American Journal of Medical...· 0 citations
It is suggested that pathogenic coding variants within these exons are unlikely to be a frequent genetic cause of CHD in Indonesian patients, and this study highlights the need for population-specific genetic investigations and their contribution to human cardiac development.
Wahidullah Mansoor· Natural Resources for Human...· 0 citations
A novel variant was revealed – tandem duplication of twelve nucleotides (c.1185_1196dup) in exon 10 of the SLC26A4 gene, an in-frame insertion resulting in the inclusion of four additional amino acid residues Gly-Phe-Phe-Ser (p.(Gly396_Ser399dup) in a highly conserved region of the pendrin protein.
M. V. Zytsar, V. Danilchenko, A. Bondar et al.· Vavilovskii zhurnal genetiki...· 0 citations
Initially discovered and published in 2017, the heterozygous mutation (p.Arg52Leu) in the GNB2 gene is associated with sinus node dysfunction (SND) and atrioventricular block (AVB). Electrophysiological characterization using heterologous expression systems has demonstrated that this R52L GNB2 variant results in a larg...
A. Verkerk, Anne Kayser, Jassin Hamidi et al.· BMC Cardiovascular Disorders· 0 citations
Progressive, and cell type-specific lncRNA dysregulation in the HGPS vasculature is revealed and lncRNAs are highlighted as candidates for exploring new therapeutic strategies.
Lara G. Merino, Santhilal Subhash, D. Whisenant et al.· GeroScience· 0 citations
Established genomic and population-level evidence support a Likely Pathogenic, loss-of-function classification for the TTN p.Arg3936Ter variant, which introduces a premature termination codon predicted to generate a truncated titin protein of 3,935 amino acids and is predicted to escape nonsense-mediated decay.
Lydier De Gracia, O. Espinosa, L. Sotillo et al.· Gene Clin Genom· 0 citations
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