
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 at the triad, TTN encodes the giant sarcomeric protein titin, which forms a myofibrillar backbone for the components of the contractile machinery.
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 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.
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, reduced TTN truncation peptides, and increased sarcomere function in cardiac microtissue assays.
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 pattern, and phenotype-genotype correlations, alongside with …
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 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...
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 intervention.
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 Fitness...
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, reduced TTN truncation peptides, and increased sarcomere function in cardiac microtissue assays.
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 feasibility of TTN as a potential prognostic marker of for LUSC.