|
rs780676796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The compound heterozygous mutations of W176X and G589S coexisting in KCNQ1 gene of homologous chromosomes, resulting in more severe phenotype, are the likely pathogenic and genetic risks of LQTS and USD in this Chinese family.
|
31565860 |
2020 |
|
rs876661350
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The compound heterozygous mutations of W176X and G589S coexisting in KCNQ1 gene of homologous chromosomes, resulting in more severe phenotype, are the likely pathogenic and genetic risks of LQTS and USD in this Chinese family.
|
31565860 |
2020 |
|
rs1343191564
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family.
|
29691127 |
2019 |
|
rs16847548
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient is also homozygous for the two minor variants rs4657139 and rs16847548 on the NOS1AP gene, associated with greater risk for cardiac arrest and sudden death in LQTS mutation carriers of the founder population. hiPSCs, obtained using four retroviruses encoding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs).
|
30878014 |
2019 |
|
rs28937316
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval.
|
29691127 |
2019 |
|
rs377564636
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval.
|
29691127 |
2019 |
|
rs4657139
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient is also homozygous for the two minor variants rs4657139 and rs16847548 on the NOS1AP gene, associated with greater risk for cardiac arrest and sudden death in LQTS mutation carriers of the founder population. hiPSCs, obtained using four retroviruses encoding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs).
|
30878014 |
2019 |
|
rs749945590
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family.
|
29691127 |
2019 |
|
rs1064795287
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These observations suggest that the p.Pro963Thr mutation is not a monogenic disease-causing LQTS mutation despite evidence of co-segregation in two siblings affected by SIDS.
|
29331839 |
2018 |
|
rs199473014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These observations suggest that the p.Pro963Thr mutation is not a monogenic disease-causing LQTS mutation despite evidence of co-segregation in two siblings affected by SIDS.
|
29331839 |
2018 |
|
rs794728535
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our objective was to investigate the functional consequences of KCNQ1-R562S mutation in an atypical form of KCNQ1-linked LQTS.
|
30170673 |
2018 |
|
rs104893714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Methods To examine the effects of human LQTS-associated cav-3 mutations on HCN4-channel function, HEK293-cells were cotransfected with HCN4 and wild-type (WT) cav-3 or a LQTS-associated cav-3 mutant (T78M, A85T, S141R, or F97C).
|
28648120 |
2017 |
|
rs1085307479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.
|
28158429 |
2017 |
|
rs11551462
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.
|
28158429 |
2017 |
|
rs1167115018
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (<i>KCNQ1</i>/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder.
|
29270100 |
2017 |
|
rs120074187
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ala300Thr is known to cause long QT syndrome in the homozygous state, while Pro535Thr is novel and of unknown clinical significance.
|
28600177 |
2017 |
|
rs1299120831
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We generated and characterized the functional properties of induced pluripotent stem cell-derived cardiomyocytes from a patient with D130G-CALM2-mediated LQTS, thus creating a platform with which to devise and test novel therapeutic strategies.
|
27765793 |
2017 |
|
rs1380382303
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Through this mechanism, we identified that p.L353L can precipitate QT prolongation by itself and produce a clinically relevant interactive effect in conjunction with other LQTS variants.
|
28264985 |
2017 |
|
rs199472910
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous p.His492Tyr variant was identified in 10 LQTS families.
|
27816319 |
2017 |
|
rs199744595
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.
|
28158429 |
2017 |
|
rs267607277
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We generated LQT15-hiPSCs from a 12-year-old boy with LQTS carrying a CALM2-N98S mutation and differentiated these hiPSCs into cardiomyocytes (LQT15-hiPSC-CMs).
|
28335032 |
2017 |
|
rs398124647
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We generated LQT15-hiPSCs from a 12-year-old boy with LQTS carrying a CALM2-N98S mutation and differentiated these hiPSCs into cardiomyocytes (LQT15-hiPSC-CMs).
|
28335032 |
2017 |
|
rs730882252
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We generated and characterized the functional properties of induced pluripotent stem cell-derived cardiomyocytes from a patient with D130G-CALM2-mediated LQTS, thus creating a platform with which to devise and test novel therapeutic strategies.
|
27765793 |
2017 |
|
rs199472842
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have developed a model for the long QT syndrome type-5 in rabbits (LQT5 ) with cardiac-specific overexpression of a mutant (G52R) KCNE1 β-subunit of the channel that carries the slow delayed-rectifier K(+) -current (IKs ).
|
27076034 |
2016 |
|
rs786205745
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two probands were identified with mutations in CACNA1C, one with a TS-associated mutation, G406R, and a second with genotype-negative LQTS.
|
27390944 |
2016 |