Cargando…

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations

BACKGROUND: KCNQ1 and KCNH2 are the two most common potassium channel genes causing long QT syndrome (LQTS), an inherited cardiac arrhythmia featured by QT prolongation and increased risks of developing torsade de pointes and sudden death. To investigate the disease expressivity, this study aimed to...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Xianqin, Chen, Shenghan, Zhang, Li, Liu, Mugen, Redfearn, Sharon, Bryant, Randall M, Oberti, Carlos, Vincent, G Michael, Wang, Qing K
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2008
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2570672/ https://www.ncbi.nlm.nih.gov/pubmed/18808722 http://dx.doi.org/10.1186/1471-2350-9-87

Ejemplares similares

The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2
por: van den Brink, Lettine, et al.
Publicado: (2021)

Association between polymorphisms in NOS3 and KCNH2 and social memory
por: Henningsson, Susanne, et al.
Publicado: (2015)

Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases
por: von Wrede, Randi, et al.
Publicado: (2021)

Anesthetic Care of a Child Harboring the KCNH2 Gene
por: Ghimire, Anuranjan, et al.
Publicado: (2022)

Is KCNH1 mutation related to coronary artery ectasia
por: Noori, Mohammad Rafi, et al.
Publicado: (2019)

S186. KCNH2 POLYMORPHISM ASSOCIATED TO ALTERED EEG FUNCTIONAL NETWORK MODULATION IN SCHIZOPHRENIA
por: Juárez, Alba Lubeiro, et al.
Publicado: (2018)

Clinical Feature, Treatment, and KCNH5 Mutations in Epilepsy
por: Hu, Xiufu, et al.
Publicado: (2022)

The intrinsically liganded cyclic nucleotide–binding homology domain promotes KCNH channel activation
por: Zhao, Yaxian, et al.
Publicado: (2017)

Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use
por: Nagasawa, Sayaka, et al.
Publicado: (2018)

Association Study of KCNH7 Polymorphisms and Individual Responses to Risperidone Treatment in Schizophrenia
por: Wang, Xueping, et al.
Publicado: (2019)

Structure of the C-terminal Region of a KCNH Channel
por: Brelidze, Tinatin I., et al.
Publicado: (2012)

The structural mechanism of KCNH-channel regulation by the eag domain
por: Haitin, Yoni, et al.
Publicado: (2013)

Structure of KCNH2 cyclic nucleotide-binding homology domain reveals a functionally vital salt-bridge
por: Ben-Bassat, Ariel, et al.
Publicado: (2020)

Structural Properties of PAS Domains from the KCNH Potassium Channels
por: Adaixo, Ricardo, et al.
Publicado: (2013)

Dynamic rearrangement of the intrinsic ligand regulates KCNH potassium channels
por: Dai, Gucan, et al.
Publicado: (2018)

Molecular mechanism of voltage-dependent potentiation of KCNH potassium channels
por: Dai, Gucan, et al.
Publicado: (2017)

Berberine is an insulin secretagogue targeting the KCNH6 potassium channel
por: Zhao, Miao-Miao, et al.
Publicado: (2021)

Cisapride induced hypoglycemia via the KCNH6 potassium channel
por: Lu, Jing, et al.
Publicado: (2022)

Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes
por: Kekenes-Huskey, Peter M., et al.
Publicado: (2022)

Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family
por: Park, Jong Keun, et al.
Publicado: (2013)

KCNH3 Predicts Poor Prognosis and Promotes Progression in Ovarian Cancer
por: Li, Zhongjun, et al.
Publicado: (2020)

Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A
por: Seo, Soo Hyun, et al.
Publicado: (2018)

Circulating KCNH2 Current-Activating Factor in Patients with Heart Failure and Ventricular Tachyarrhythmia
por: Sugiyama, Hiroki, et al.
Publicado: (2011)

Maternal mosaicism in long QT syndrome due to a pathogenic variant in KCNH2
por: Sawyer, Briana L., et al.
Publicado: (2020)

N- and C-terminal interactions in KCNH channels: The spotlight on the intrinsic ligand
por: Brelidze, Tinatin I.
Publicado: (2019)

Gating and regulation of KCNH (ERG, EAG, and ELK) channels by intracellular domains
por: Codding, Sara J., et al.
Publicado: (2020)

Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome
por: De Zio, Roberta, et al.
Publicado: (2019)

Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies
por: Agudelo, William A., et al.
Publicado: (2021)

Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome
por: Fujisawa, Taishi, et al.
Publicado: (2020)

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity
por: Oliveira‐Mendes, Barbara, et al.
Publicado: (2021)

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
por: Copier, Jaël S, et al.
Publicado: (2022)

Integrated analysis of the voltage-gated potassium channel-associated gene KCNH2 across cancers
por: Zheng, Zequn, et al.
Publicado: (2023)

Mechanisms of fever-induced QT prolongation and torsades de pointes in patients with KCNH2 mutation
por: Usuda, Keisuke, et al.
Publicado: (2023)

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation
por: Sun, Hairui, et al.
Publicado: (2022)

Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome
por: Aizawa, Takanori, et al.
Publicado: (2023)

Kcnh1 Voltage-gated Potassium Channels Are Essential for Early Zebrafish Development
por: Stengel, Rayk, et al.
Publicado: (2012)

Author Correction: Berberine is an insulin secretagogue targeting the KCNH6 potassium channel
por: Zhao, Miao-Miao, et al.
Publicado: (2021)

Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2
por: Liu, Li, et al.
Publicado: (2016)

KCNH6 Enhanced Hepatic Glucose Metabolism through Mitochondrial Ca(2+) Regulation and Oxidative Stress Inhibition
por: Zhang, Ying-Chao, et al.
Publicado: (2022)

Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia
por: Refisch, Alexander, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_mefvu2osqoa06c50qn2vc3200a