Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive variants in these genes are associated with Jervell and Lange-Nielson syndrome (JLNS1 and JLNS2), a cardio-auditory syndrome characterized by congenital profound sensorineural deafness and a prolonged QT interval that can cause ventricular arrhythmias and sudden cardiac death.
|
30461122 |
2019 |
Long QT Syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation.
|
31765965 |
2019 |
Long QT Syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Coassembly of certain mutant KCNE1 monomers with wild-type KCNQ1 subunits results in RWS by a dominant negative mechanism.
|
30461122 |
2019 |
Long QT Syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, the non-integrational Sendai reprogramming method was used to express four Yamanaka factors and to generate induced pluripotent stem cell (iPSC) lines carrying the KCNQ1 c.1697C>A (p.S566Y) mutation from familial LQT1 patients.
|
31415974 |
2019 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.
|
29677589 |
2018 |
Long QT Syndrome 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Emerging therapeutic targets in the short QT syndrome.
|
29697308 |
2018 |
Long QT Syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We generated hiPSCs from the peripheral blood mononuclear cells obtained from a patient with LQT1 carrying KCNQ1-A344Aspl.
|
29857160 |
2018 |
Long QT Syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sudden death in long-QT syndrome type 1 (LQT1), an inherited disease caused by loss-of-function mutations in KCNQ1, is triggered by early afterdepolarizations (EADs) that initiate polymorphic ventricular tachycardia (pVT).
|
29769222 |
2018 |
Long QT Syndrome 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
|
29033053 |
2018 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report.
|
29037160 |
2017 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
|
27917693 |
2017 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome.
|
27868350 |
2017 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome.© 2016 Wiley Periodicals, Inc.
|
27868350 |
2017 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Several missense variants are reported to cause RWS by a dominant-negative mechanism, and some KCNQ1 variants can cause both Jervell and Lange-Nielsen Syndrome (JLNS; in an autosomal recessive manner) and LQTS1 (in an autosomal dominant manner), while other KCNQ1 variants cause only JLNS.
|
28595573 |
2017 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report.
|
29037160 |
2017 |
Long QT Syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
|
28264985 |
2017 |
Long QT Syndrome 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
|
28595573 |
2017 |
Long QT Syndrome 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
This was a retrospective review of 349 children with LQTS (mean age at diagnosis, 8.0 ± 5.7 years; mean corrected QT interval, 469 ± 51 ms; long QT syndrome type 1 [LQT1] in 46%, LQT2 in 31%, and LQT3 in 9%) evaluated from 2000 to 2013.
|
28416468 |
2017 |
Long QT Syndrome 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
|
29097701 |
2017 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS.
|
27041150 |
2016 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS.
|
27041150 |
2016 |
Long QT Syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this prospective study, we report biallelic mutations in KCNQ1 in Indian patients with LQT1 syndrome.
|
27041150 |
2016 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome.
|
26084842 |
2015 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Novel mutations of KCNQ1 in Long QT syndrome.
|
24206879 |
2015 |
Jervell-Lange Nielsen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.
|
24666684 |
2015 |