2025年2月19日 · Truncating variants (TTNtvs) in the titin (TTN) gene have been associated with cardiomyopathies or arrhythmias (C/A) and autosomal recessive neuromuscular diseases …

2014年10月21日 · View credits, reviews, tracks and shop for the 2014 Vinyl release of "White Night" on Discogs.

2012年2月16日 · TTN truncating mutations are a common cause of dilated cardiomyopathy, occurring in approximately 25% of familial cases of idiopathic dilated cardiomyopathy and in …

2025年2月17日 · We identified a transcriptional enhancer of the essential sarcomere gene titin (TTN), which plays a critical role in TTN expression, sarcomere formation, and cardiomyocyte …

2024年3月1日 · Transcriptome data suggest that the interaction of srpk3 and ttn.1 in zebrafish occurs at a post-transcriptional level. We propose that digenic inheritance of deleterious …

2020年11月15日 · Twenty-seven of the identified individuals had pathogenic or likely pathogenic variants in the TTN gene. We report a case series of 6 patients presenting with nonischemic …

2016年2月1日 · Diagram showing petrogenetic processes and discriminating the nature of the magma (felsic versus mafic) using Sr/Sm ratios in apatite (ap) inclusions and host titanites …

2014年6月30日 · In this review, we provide the first comprehensive update of the TTN mutations reported and discuss their distribution, molecular mechanisms, associated phenotypes, …

Single-cell protein expression profiling resolves circulating and resident memory T cell diversity across tissues and infection contexts. TGF-β signaling to T cells inhibits autoimmunity during …

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Series of exon-skipping events in the elastic spring region of titin as the structural basis for …