Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
A Fomin, A Gärtner, L Cyganek, M Tiburcy… - Science translational …, 2021 - science.org
Heterozygous truncating variants in TTN (TTNtv), the gene coding for titin, cause dilated
cardiomyopathy (DCM), but the underlying pathomechanisms are unclear and disease …
cardiomyopathy (DCM), but the underlying pathomechanisms are unclear and disease …
Truncated titin proteins in dilated cardiomyopathy
Truncating variants in TTN (TTNtvs) are the most common known cause of nonischemic
dilated cardiomyopathy (DCM), but how TTNtvs cause disease has remained controversial …
dilated cardiomyopathy (DCM), but how TTNtvs cause disease has remained controversial …
Titin-truncating variants affect heart function in disease cohorts and the general population
Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). TTNtv are
also encountered in∼ 1% of the general population, where they may be silent, perhaps …
also encountered in∼ 1% of the general population, where they may be silent, perhaps …
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an
abundant structural, sensory, and signaling filament in muscle) as a common cause of end …
abundant structural, sensory, and signaling filament in muscle) as a common cause of end …
Titin truncating variants in dilated cardiomyopathy–prevalence and genotype-phenotype correlations
M Franaszczyk, P Chmielewski, G Truszkowska… - PLoS …, 2017 - journals.plos.org
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data
on their clinical significance is still limited. We sought to examine the frequency of truncating …
on their clinical significance is still limited. We sought to examine the frequency of truncating …
The giant protein titin's role in cardiomyopathy: genetic, transcriptional, and post-translational modifications of TTN and their contribution to cardiac disease
CA Tharp, ME Haywood, O Sbaizero… - Frontiers in …, 2019 - frontiersin.org
Dilated cardiomyopathy (DCM) is a leading cause of heart failure, sudden cardiac death and
heart transplant. DCM is inherited in approximately 50% of cases, in which the most frequent …
heart transplant. DCM is inherited in approximately 50% of cases, in which the most frequent …
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias
JAJ Verdonschot, MR Hazebroek… - European heart …, 2018 - academic.oup.com
Abstract Aims Truncating titin variants (TTNtv) are the most prevalent genetic cause of
dilated cardiomyopathy (DCM). We aim to study clinical parameters and long-term outcomes …
dilated cardiomyopathy (DCM). We aim to study clinical parameters and long-term outcomes …
Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy
AM Tabish, V Azzimato, A Alexiadis, B Buyandelger… - Biophysical …, 2017 - Springer
Heart failure (HF) is a complex clinical syndrome defined by the inability of the heart to pump
enough blood to meet the body's metabolic demands. Major causes of HF are …
enough blood to meet the body's metabolic demands. Major causes of HF are …
Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy
Human mutations that truncate the massive sarcomere protein titin [TTN-truncating variants
(TTNtvs)] are the most common genetic cause for dilated cardiomyopathy (DCM), a major …
(TTNtvs)] are the most common genetic cause for dilated cardiomyopathy (DCM), a major …
Role of titin missense variants in dilated cardiomyopathy
RL Begay, S Graw, G Sinagra, M Merlo… - Journal of the …, 2015 - Am Heart Assoc
Background The titin gene (TTN) encodes the largest human protein, which plays a central
role in sarcomere organization and passive myocyte stiffness. TTN truncating mutations …
role in sarcomere organization and passive myocyte stiffness. TTN truncating mutations …
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