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 …

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 …

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, …

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 …

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 …

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 …

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 …

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, …

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 …