×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Truncation mutations of TTN have been identified as the most frequent genetic cause of dilated cardiomyopathy .
30959043
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study.
31712709
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Major genomic determinants of dilated cardiomyopathy (DCM) are titin truncating mutations and lamin A/C mutations.
30527532
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
In the complete knockout, remaining titin molecules experience increased strain, resulting in mechanically induced trophic signaling and eventually dilated cardiomyopathy .
30700140
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Titin -truncating variants (TTNtv) have been recognized as the most prevalent genetic cause of dilated cardiomyopathy .
30851055
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Neuromuscular transmission defects in myopathies: Rare but worth searching for.
30536954
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
- Titin (TTN ) truncation variants are the most frequent cause of dilated cardiomyopathy , one of the main causes of heart failure and heart transplant.
31849696
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Truncating variants of TTN (TTNtv) especially in the A-band region account for 20% of dilated cardiomyopathy (DCM) cases.
30858397
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
The leading cause of genetic dilated cardiomyopathy (DCM) is due to mutations in the TTN gene, impacting approximately 15-20% of familial and 18% of sporadic DCM cases.
30998980
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Clinical exome sequencing revealed I536T -RBM20 variant, which alters RNA splicing of TTN and is causative for dilated cardiomyopathy .
31419596
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Truncating variants in TTN (TTNtv), coding for the largest structural protein in the sarcomere, contribute to the largest portion of familial and ambulatory dilated cardiomyopathy (DCM).
31705051
2019
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
TTN is closely related to dilated cardiomyopathy and is an important causative gene of familial dilated cardiomyopathy.
29109008
2018
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance.
30354343
2018
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
Usefulness of Urinary N-Terminal Fragment of Titin to Predict Mortality in Dilated Cardiomyopathy .
29523227
2018
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Truncating mutations in the sarcomere protein titin cause dilated cardiomyopathy due to sarcomere insufficiency.
29316444
2018
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.
28045975
2017
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Heart failure was induced in a mouse model that imitates a human titin truncation mutation we found in a patient with dilated cardiomyopathy (DCM).
28353642
2017
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.
28941705
2017
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
CTD_human
Titin-truncating variants affect heart function in disease cohorts and the general population.
27869827
2017
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
Inhibition of miR-208b improves cardiac function in titin -based dilated cardiomyopathy .
28065693
2017
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Improved understanding of dilated cardiomyopathy (DCM) due to titin truncation (TTNtv) may help guide patient stratification.
29073955
2017
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
GENOMICS_ENGLAND
A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
28716623
2017
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Titin -truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM).
27869827
2017
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy .
27813223
2017
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.
29093449
2017