×
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
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
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
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
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
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
GeneticVariation
group
BEFREE
Recently, heterozygous TTN truncating mutations have also been reported as a major cause of dominant dilated cardiomyopathy .
24105469
2014
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy .
23418287
2013
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
17444505
2007
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
The recent discovery of titin mutations being a major cause of dilated cardiomyopathy (DCM) also underpins the importance of mechanosensation and mechanotransduction in the pathogenesis of heart failure.
24531746
2014
×
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
Titin mutations as the molecular basis for dilated cardiomyopathy .
11846417
2002
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739
2012
×
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
CLINVAR
Familial dilated cardiomyopathy locus maps to chromosome 2q31.
10051295
1999
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Relevance of truncating titin mutations in dilated cardiomyopathy .
26777568
2016