×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy.
27057166
2016
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene.
8774330
1996
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Hypertrophic cardiomyopathy -causing Asp175asn and Glu180gly Tpm1 mutations shift tropomyosin strands further towards the open position during the ATPase cycle.
21376702
2011
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Altered hemodynamics in transgenic mice harboring mutant tropomyosin linked to hypertrophic cardiomyopathy.
11045979
2000
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations.
21320446
2011
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.
25548289
2015
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy.
12651045
2003
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
The aim of the study was to screen 36 unrelated patients with hypertrophic cardiomyopathy (HCM; 16 familial and 20 sporadic cases) from a genetically homogeneous area in eastern Finland for variants in the cardiac beta-myosin heavy chain (beta-MHC) and alpha-tropomyosin (alpha-TM ) genes.
9822100
1998
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
8205619
1994
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.
11136687
2001
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy .
8523464
1995
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
L185R-TPM1 cosegregated with family members having clinical evidence of HC , including the proband as confirmed by molecular autopsy.
12423715
2002
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Parvalbumin corrects slowed relaxation in adult cardiac myocytes expressing hypertrophic cardiomyopathy -linked alpha-tropomyosin mutations.
15059934
2004
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice.
11603924
2001
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.
23508784
2013
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
De novo mutations in the alpha-tropomyosin gene can result in hypertrophic cardiomyopathy that may appear to be sporadic but in subsequent generations gives rise to familial disease.
7729014
1995
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
Hypertrophic Cardiomyopathy
0.500
Biomarker
CLINGEN
A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
8327508
1993