LONG QT SYNDROME 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
|
26969752 |
2016 |
LONG QT SYNDROME 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
|
27516456 |
2016 |
LONG QT SYNDROME 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current.
|
27165696 |
2016 |
LONG QT SYNDROME 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.
|
26164367 |
2015 |
LONG QT SYNDROME 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
|
24917665 |
2014 |
LONG QT SYNDROME 15
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
|
24917665 |
2014 |
LONG QT SYNDROME 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Calmodulin mutations associated with recurrent cardiac arrest in infants.
|
23388215 |
2013 |
LONG QT SYNDROME 15
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
LONG QT SYNDROME 15
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
LONG QT SYNDROME 15
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Romano-Ward Syndrome
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
|
24917665 |
2014 |
Romano-Ward Syndrome
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Calmodulin mutations associated with recurrent cardiac arrest in infants.
|
23388215 |
2013 |
Romano-Ward Syndrome
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
0.340 |
Biomarker
|
disease |
BEFREE |
Mutations in human genes CALM1, CALM2, and CALM3 have been associated with life-threatening heart disorders, such as long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia.
|
30937913 |
2019 |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
The two prevalent phenotypes are long QT syndrome (LQTS; CALM-LQTS, n = 36, 49%) and catecholaminergic polymorphic ventricular tachycardia (CPVT; CALM-CPVT, n = 21, 28%).
|
31170290 |
2019 |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
To that end, we have designed a CaM protein (GSH-M37Q; dubbed as therapeutic CaM or T-CaM) that exhibited a slowed N-terminal Ca dissociation rate and prolonged RyR2 refractoriness in permeabilized myocytes derived from CPVT mice carrying the CASQ2 mutation R33Q.
|
29720499 |
2018 |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
0.340 |
GeneticVariation
|
disease |
ORPHANET |
We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P).
|
24917665 |
2014 |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We identified 5 novel de novo missense mutations in CALM2 in 3 subjects with LQTS (p.N98S, p.N98I, p.D134H) and 2 subjects with clinical features of both LQTS and CPVT (p.D132E, p.Q136P).
|
24917665 |
2014 |
Marijuana Abuse
|
0.310 |
Biomarker
|
disease |
BEFREE |
This study evaluated differences in substance-specific consequence attribution by alcohol-marijuana use patterns (concurrent alcohol and marijuana [CAM; use of both substances, not at same time] and simultaneous [SAM; use of both, at same time]) as well as alcohol-only (AO).
|
31002291 |
2020 |
Mental Depression
|
0.310 |
Biomarker
|
disease |
PSYGENET |
Fluoxetine epigenetically alters the CaMKIIα promoter in nucleus accumbens to regulate ΔFosB binding and antidepressant effects.
|
24240473 |
2014 |
Depressive disorder
|
0.310 |
Biomarker
|
disease |
PSYGENET |
Fluoxetine epigenetically alters the CaMKIIα promoter in nucleus accumbens to regulate ΔFosB binding and antidepressant effects.
|
24240473 |
2014 |
Bipolar Disorder
|
0.310 |
Biomarker
|
disease |
PSYGENET |
Derivation of neural stem cells from an animal model of psychiatric disease.
|
24193728 |
2013 |
Mental Depression
|
0.310 |
Biomarker
|
disease |
PSYGENET |
Tributyltin exposure influences predatory behavior, neurotransmitter content and receptor expression in Sebastiscus marmoratus.
|
23314275 |
2013 |
Mental Depression
|
0.310 |
Biomarker
|
disease |
PSYGENET |
βCaMKII in lateral habenula mediates core symptoms of depression.
|
23990563 |
2013 |
Depressive disorder
|
0.310 |
Biomarker
|
disease |
PSYGENET |
βCaMKII in lateral habenula mediates core symptoms of depression.
|
23990563 |
2013 |