×
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
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
Relevance of truncating titin mutations in dilated cardiomyopathy .
26777568
2016
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Building on our recent discovery of a conserved internal promoter within the Titin gene, we sought to develop an integrative statistical model to explain the observed pattern of Titin truncation variants in patients with dilated cardiomyopathy and population controls.
27625338
2016
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
CausalMutation
group
CLINVAR
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.
26899768
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
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
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
GeneticVariation
group
CLINVAR
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
25589632
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
Role of Titin Missense Variants in Dilated Cardiomyopathy .
26567375
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
CausalMutation
group
CLINVAR
Atlas of the clinical genetics of human dilated cardiomyopathy.
25163546
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Dilated cardiomyopathy is often triggered by mutations that disrupt the giant protein titin .
25651172
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
Biomarker
group
BEFREE
Antisense-mediated exon skipping: a therapeutic strategy for titin -based dilated cardiomyopathy .
25759365
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
Truncating titin (TTN ) mutations, especially in A-band region, represent the most common cause of dilated cardiomyopathy (DCM).
26701604
2015
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
BEFREE
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
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
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
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
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
CausalMutation
group
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780
2014
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.900
GeneticVariation
group
CLINVAR
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
24503780
2014
×
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
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
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
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
24119082
2013