rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We studied 140 carriers (G+) of the TPM1-Asp175Asn or MYBPC3-Gln1061X pathogenic variants for HCM: The G+/LVH+ group (n = 98) consisted of mutation carriers with LVH and the G+/LVH- group (n = 42) without LVH.
|
30497761 |
2019 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Using adenovirus, we expressed HCM-causing variants of human troponin-T, troponin-I, and α-tropomyosin (R92Q, R145G, and D175N, respectively) in isolated guinea pig left ventricular cardiomyocytes.
|
29760186 |
2018 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases.Objective.
|
24888384 |
2014 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Finnish population, indicating that routine genetic screening of these mutations is warranted in Finnish patients with HCM.
|
22462493 |
2013 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.
|
22462493 |
2013 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The effect of the Asp175Asn and Glu180Gly TPM1 mutations on actin-myosin interaction during the ATPase cycle.
|
22155441 |
2012 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Twenty-four patients with a single HCM-causing mutation D175N in the α-tropomyosin gene and 17 control subjects.
|
22447464 |
2012 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin.
|
22794249 |
2012 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To understand how the HCM-causing Asp175Asn and Glu180Gly mutations in α-tropomyosin affect on actin-myosin interaction during the ATPase cycle, we labeled the SH1 helix of myosin subfragment-1 and the actin subdomain-1 with the fluorescent probe N-iodoacetyl-N'-(5-sulfo-1-naphtylo)ethylenediamine.
|
22155441 |
2012 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The flexibility of two tropomyosin mutants, D175N and E180G, that cause hypertrophic cardiomyopathy.
|
22789852 |
2012 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Several cardiomyopathy causing mutations on tropomyosin either destabilize the active state of actomyosin or alter the binding properties of tropomyosin.
|
21295541 |
2011 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations.
|
21320446 |
2011 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
95 unselected subjects with mild-to-moderate hypertension, 24 patients with HCM attributable to the D175N mutation of the α-tropomyosin gene and 17 control subjects were studied by cine CMRI.
|
21274714 |
2011 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy-causing Asp175asn and Glu180gly Tpm1 mutations shift tropomyosin strands further towards the open position during the ATPase cycle.
|
21376702 |
2011 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in α-tropomyosin.
|
22187526 |
2011 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To understand the molecular mechanism by which the hypertrophic cardiomyopathy-causing Asp175Asn and Glu180Gly mutations in α-tropomyosin alter contractile regulation, we labeled recombinant wild type and mutant α-tropomyosins with 5-iodoacetamide-fluorescein and incorporated them into the ghost muscle fibers.
|
21376702 |
2011 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In conclusion, in patients with nonobstructive HC attributable to an Asp175Asn mutation in the alpha-tropomyosin gene, elevated NT-pro-BNP levels are associated with incipient LV remodeling, suggesting that NT-pro-BNP could be used to diagnose insidious unfavorable LV remodeling in HC.
|
18394456 |
2008 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In HCM attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, myocardial oxidative metabolism and FFA metabolism are increased and inversely related to LV hypertrophy at both the whole heart and regional level.
|
17556170 |
2007 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes.
|
16504640 |
2006 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The extent of myocardial contractile impairment is strongly and independently related to LV mass and maximal wall thickness in patients with HCM attributable to the Asp175Asn mutation in TPM1.
|
16014439 |
2005 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Cine MR imaging of myocardial contractile impairment in patients with hypertrophic cardiomyopathy attributable to Asp175Asn mutation in the alpha-tropomyosin gene.
|
16014439 |
2005 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In conclusion, in HCM attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, life-threatening arrhythmias were induced in one third of the patients.
|
14734051 |
2004 |
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene.
|
14734051 |
2004 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Rest-stress first-pass MR imaging with gadopentetate dimeglumine was performed in 17 patients with HCM and the Asp175Asn substitution in the alpha-tropomyosin gene and in five control subjects.
|
12511681 |
2003 |
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
|
12473556 |
2002 |