×
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
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
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
GeneticVariation
group
BEFREE
In 2002, three reports described for the first time mutations in the sarcomeric protein titin associated with dilated cardiomyopathy in humans.
12114104
2002
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
CausalMutation
group
CLINVAR
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
26735901
2016
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopathy and skeletal myopathy.
26473617
2015
×
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
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
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
AlteredExpression
group
BEFREE
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
27496873
2016
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Recently, missense mutations in titin -associated proteins have been linked to the pathogenesis of dilated cardiomyopathy (DCM).
22892539
2013
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy .
24558114
2014
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
The kinase domain of titin controls muscle gene expression and protein turnover.
15802564
2005
×
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
GeneticVariation
group
CLINVAR
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
26315439
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy .
23463027
2013
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
Mutations in genes for sarcomeric proteins such as titin /connectin are known to cause dilated cardiomyopathy (DCM).
16483541
2006
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
MGD
Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.
19406126
2009
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
25448463
2014
×
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
CTD_human
Titin mutations as the molecular basis for dilated cardiomyopathy.
11846417
2002
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
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-stage dilated cardiomyopathy (DCM) promises new prospects for improving heart failure management.
25589632
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
Defects in titin , a large sarcomeric protein, may be responsible for disturbances of sarcomerogenesis in dilated cardiomyopathy .
8835872
1996
×
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