Our study identifies truncating TTN mutations as a cause of congenital myopathy that is reported as CNM. Unlike the classic CNM genes that are all involved in excitation-contraction coupling at the triad, TTN encodes the giant sarcomeric protein titin, which forms a myofibrillar backbone for the components of the contractile machinery.

This section provides HMM basic “Freetime” and “Tariff” for Demurrage and Detention. You can search through the “Freetime” and “Tariff” of each port around the world by changing the following options and typing in the quantity of your container. To check DEM/DET (Freetime) based on B/L number, please click here. Any of the SAT/SUN/Hol.

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.

2024年1月18日 · We engineered human cardiomyocyte models to enable CRISPR transcriptional activation in a TTN (titin) truncation (TTNtv) mutation model of dilated cardiomyopathy (DCM).

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8月31日 · Next-generation sequencing of clinical cohorts has revealed that heterozygous loss-of-function variants in titin (TTN), the largest human protein, are the leading genetic cause of idiopathic DCM (Figure 1A). 1, 6–8 TTN truncating variants (TTNtv), which include nonsense, frameshift, splicing, and copy number variants that damage the structure of...

We hypothesise that destabilizing TTN missense mutations phenocopy truncating variants and are a key pathogenic feature of recessive titinopathies that might be amenable to therapeutic intervention.

A fraction of genes labeled "NE" in the HMM+NP model (highlighted matrix 856 components) are reassigned to be "GA" or "GD" using the TTN-Fitness method, indicating that the TTN-857 Fitness...

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.

To analyze the relationship between titin (TTN) mutation gene and tumor mutational burden (TMB) and the with prognosis of lung squamous cell carcinomas (LUSC), and to explore the feasibility of TTN as a potential prognostic marker of for LUSC.