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 (NM). However, the clinical significance of TTNtvs across the entire coding sequence of TTN has not been comprehensively assessed.

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 18% of sporadic cases. Incorporation of sequencing approaches that detect TTN truncations into genetic testing for dilated cardiomyopath …

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 contractility. Heterozygous truncating variants in the sarcomere protein titin (TTN) are the most common genetic cause of heart failure.

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 changes impacting both...

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 DCM with negative family histories in which subsequent genetic testing identified likely pathogenic variants in TTN .

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 (ttn). For comparison, apatite and titanite average compositions from the matrix have also been reported (error bars are 1σ; Bruand et al., 2014 ; Table DR2; see footnote 1 ).

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, transmission pattern, and phenotype–genotype correlations, alongside with their implications for basic research and for human health.

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 lymphopenia-driven proliferation.

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 myofibrillar elastic diversity.