
Recessive truncating titin gene, TTN, mutations presenting as ...
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 …
DEM/DET Tariff (Basic) - HMM
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 …
Reading Frame Repair of TTN Truncation Variants Restores Titin …
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, …
CRISPR Activation Reverses Haploinsufficiency and Functional …
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).
A rising titan: TTN review and mutation update - PubMed
In this review, we provide the first comprehensive update of the TTN mutations reported and discuss their distribution, molecular mechanisms, associated phenotypes, transmission …
Contribution of Noncanonical Splice Variants to TTN …
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 …
Making sense of missense variants in TTN-related congenital
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 …
Distribution of HMM+NP and TTN-Fitness states for genes
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 …
Reading Frame Repair of TTN Truncation Variants Restores Titin
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, …
Mutations in the TTN Gene are a Prognostic Factor for Patients …
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 …