2022年1月18日 · Cardiomyocyte genome editing using SpCas9 and a TTNtv-specific guide RNA restored the TTN protein reading frame, which increased full-length TTN protein levels, reduced TTN truncation peptides, and increased sarcomere function in cardiac microtissue assays.

2024年1月18日 · Human cardiomyocyte and microtissue assays revealed that TTN transcriptional activation using dCas9-VPR and custom guide RNAs reversed TTN haploinsufficiency, as well as contractility and transcriptomic and sarcomere content deficits.

2024年1月16日 · Heterozygous TTN truncation variants (TTN tvs) are the most prevalent genetic lesion identified in dilated cardiomyopathy (DCM), a disorder associated with cardiac chamber enlargement and impaired contractile function (10).

2024年12月25日 · Complete information for TTN gene (Protein Coding), Titin, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

2019年11月8日 · Truncating variants in TTN (TTNtv), coding for the largest structural protein in the sarcomere, contribute to the largest portion of familial and ambulatory dilated cardiomyopathy (DCM). TTN...

2021年11月3日 · Heterozygous truncating variants in TTN (TTNtv), the gene coding for titin, cause dilated cardiomyopathy (DCM), but the underlying pathomechanisms are unclear and disease management remains uncertain. Truncated titin proteins have not yet been considered as a contributor to disease development.

Here, we show that titin (TTN), the largest protein encoded by the human genome, and the main controller of muscle cell passive stiffness, 23,24,25,26 plays a central role in the regulation of T lymphocyte trafficking. Human lymphocytes constitutively express the TTN gene.

We investigated TTN genotype-phenotype correlations in probands with skeletal myopathy and/or cardiomyopathy. Probands with TTN truncating variants (TTNtv) or pathogenic missense variants were ascertained from two academic medical centers.

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 …

2021年12月14日 · Cardiomyocyte genome editing using SpCas9 and a TTNtv-specific guide RNA restored the TTN protein reading frame, which increased full-length TTN protein levels, reduced TTN truncation peptides, and increased sarcomere function in cardiac microtissue assays.