Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
BEFREE |
These findings implicate an impaired interaction between titin and MURF1 as a novel mechanism underlying the pathogenesis of HCM.
|
31628103 |
2019 |
Hypertrophic Cardiomyopathy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
At a cellular level, HCM women showed increased compliant titin and a larger degree of interstitial fibrosis.
|
29853478 |
2018 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Additionally, the rate and classification of TTN variants in HCM were compared with 427 patients without structural heart disease.
|
28771489 |
2017 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The titin gene (TTN) was sequenced for truncating variants in a cohort of 529 Chinese patients with HCM and 307 healthy controls.
|
28822653 |
2017 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
|
27625337 |
2016 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Since the first report on the involvement of TTN mutations in the development of hypertrophic cardiomyopathy, in 1999, dozens of other mutations have been described and associated with the onset of cardiac disease.
|
26024954 |
2015 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Proteomics. Tissue-based map of the human proteome.
|
25613900 |
2015 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Titin mutations are a rare cause of hypertrophic cardiomyopathy and also underlie some cases of arrhythmogenic right ventricular dysplasia.
|
24072177 |
2014 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among subjects studied by means of next-generation sequencing, the frequency of TTN mutations was significantly higher among subjects with dilated cardiomyopathy (54 of 203 [27%]) than among subjects with hypertrophic cardiomyopathy (3 of 231 [1%], P=3×10(-16)) or controls (7 of 249 [3%], P=9×10(-14)).
|
22335739 |
2012 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy.
|
21297871 |
2011 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.
|
19608031 |
2009 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction.
|
19679835 |
2009 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic studies have revealed that HCM is caused by mutations in genes for sarcomere/Z-band components including titin/connectin and its associate proteins.
|
17716621 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Cardiac hypertrophy and reduced contractility in hearts deficient in the titin kinase region.
|
17261657 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
DNA was obtained from 389 patients with HCM (215 male, left ventricular wall thickness of 21.6+/-6 mm) and analyzed for mutations involving all translated exons of CSRP3 and TCAP and targeted HCM-associated exons (2, 3, 4, and 14) of TTN using polymerase chain reaction (PCR), denaturing high performance liquid chromatography (DHPLC), and direct DNA sequencing.
|
16352453 |
2006 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We also reported several other mutations in the N2-B region of titin/connectin found in hypertrophic cardiomyopathy and dilated cardiomyopathy.
|
16465475 |
2005 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It was demonstrated by the qualitative assays that the HCM-associated mutations augment the ability of Tcap to interact with titin and calsarcin-1, whereas the DCM-associated mutations impair the interaction of Tcap with MLP, titin, and calsarcin-1.
|
15582318 |
2004 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
|
15582318 |
2004 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
BEFREE |
However, disease-causing defects were not known until recently, when this central sarcomeric protein was associated with human skeletal tibial muscular dystrophy (TMD/LGMD2J), dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).
|
14572168 |
2003 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of titin mutation in hypertrophic cardiomyopathy indicate that hypertrophic cardiomyopathy is in part considered as the cytoskeletopathy.
|
11433818 |
2001 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
BEFREE |
The genes for familial cases of hypertrophic cardiomyopathy are known to encode members of the sarcomere and to date nine genes have been identified (beta-myosin heavy chain, alpha-tropomyosin, cardiac troponin T, troponin I, myosin binding protein-C, regulatory myosin light chain, essential myosin light chain, cardiac actin, and titin) for this genetically and clinically heterogeneous disease.
|
10980884 |
2000 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These observations suggest that the titin mutation may cause HCM in this patient via altered affinity to alpha-actinin.
|
10462489 |
1999 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
|
10462489 |
1999 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
CLINGEN |
A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy.
|
8631348 |
1996 |
Hypertrophic Cardiomyopathy
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|