Cargando…

A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation

Atrial Fibrillation (AF) is the most common cardiac arrhythmia. Its pathogenesis is complex and poorly understood. Whole exome sequencing of Danish families with AF revealed a novel four nucleotide deletion c.1041_1044del in CLCN2 shared by affected individuals. We aimed to investigate the role of g...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hansen, Thea Hyttel, Yan, Yannan, Ahlberg, Gustav, Vad, Oliver Bundgaard, Refsgaard, Lena, dos Santos, Joana Larupa, Mutsaers, Nancy, Svendsen, Jesper Hastrup, Olesen, Morten Salling, Bentzen, Bo Hjorth, Schmitt, Nicole
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6989500/ https://www.ncbi.nlm.nih.gov/pubmed/31996765 http://dx.doi.org/10.1038/s41598-020-58475-9

Ejemplares similares

Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation
por: Vad, Oliver Bundgaard, et al.
Publicado: (2022)

Screening of the I(to) Regulatory Subunit Klf15 in Patients with Early-Onset Lone Atrial Fibrillation
por: Nielsen, Morten Wagner, et al.
Publicado: (2013)

Loss-of-Function Variants in Cytoskeletal Genes Are Associated with Early-Onset Atrial Fibrillation
por: Vad, Oliver Bundgaard, et al.
Publicado: (2020)

Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy
por: Refsgaard, Lena, et al.
Publicado: (2012)

Investigating gene-microRNA networks in atrial fibrillation patients with mitral valve regurgitation
por: Larupa Santos, Joana, et al.
Publicado: (2020)

Cardiac magnetic resonance systematically overestimates mitral regurgitations by the indirect method
por: Bertelsen, Litten, et al.
Publicado: (2020)

Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation
por: Clausen, Alexander Guldmann, et al.
Publicado: (2021)

Termination of Vernakalant-Resistant Atrial Fibrillation by Inhibition of Small-Conductance Ca(2+)-Activated K(+) Channels in Pigs
por: Diness, Jonas Goldin, et al.
Publicado: (2017)

Genome-wide association study identifies 18 novel loci associated with left atrial volume and function
por: Ahlberg, Gustav, et al.
Publicado: (2021)

Verification of threshold for image intensity ratio analyses of late gadolinium enhancement magnetic resonance imaging of left atrial fibrosis in 1.5T scans
por: Bertelsen, Litten, et al.
Publicado: (2019)

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy
por: Nouhravesh, Nina, et al.
Publicado: (2016)

CineECG analysis provides new insights into Familial ST-segment Depression Syndrome
por: Frosted, Rasmus, et al.
Publicado: (2023)

Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis
por: Andreasen, Laura, et al.
Publicado: (2020)

Quantitative Proteomics of Human Heart Samples Collected In Vivo Reveal the Remodeled Protein Landscape of Dilated Left Atrium Without Atrial Fibrillation
por: Linscheid, Nora, et al.
Publicado: (2020)

Association of Common and Rare Genetic Variation in the 3‐Hydroxy‐3‐Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk
por: Ghouse, Jonas, et al.
Publicado: (2022)

CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II
por: Scholl, Ute I., et al.
Publicado: (2018)

Identification of Chloride Channels CLCN3 and CLCN5 Mediating the Excitatory Cl(−) Currents Activated by Sphingosine-1-Phosphate in Sensory Neurons
por: Qi, Yanmei, et al.
Publicado: (2018)

Systolic Blood Pressure and Effects of Screening for Atrial Fibrillation With Long-Term Continuous Monitoring (a LOOP Substudy)
por: Xing, Lucas Yixi, et al.
Publicado: (2022)

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
por: Ahlberg, Gustav, et al.
Publicado: (2018)

Electrocardiographic Precordial ST‐Segment Deviations and the Risk of Cardiovascular Death: Results From the Copenhagen ECG Study
por: Rasmussen, Peter Vibe, et al.
Publicado: (2014)

Severity and Etiology of Incident Stroke in Patients Screened for Atrial Fibrillation vs Usual Care and the Impact of Prior Stroke: A Post Hoc Analysis of the LOOP Randomized Clinical Trial
por: Diederichsen, Søren Zöga, et al.
Publicado: (2022)

MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1
por: Kino, Yoshihiro, et al.
Publicado: (2009)

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
por: Andreasen, Charlotte, et al.
Publicado: (2013)

The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants
por: Cao, Xu, et al.
Publicado: (2023)

Increased Density of Endogenous Adenosine A(2A) Receptors in Atrial Fibrillation: From Cellular and Porcine Models to Human Patients
por: Godoy-Marín, Héctor, et al.
Publicado: (2023)

Null mutation of chloride channel 7 (Clcn7) impairs dental root formation but does not affect enamel mineralization
por: Guo, Jing, et al.
Publicado: (2015)

Central and Peripheral GABA(A) Receptor Regulation of the Heart Rate Depends on the Conscious State of the Animal
por: Bentzen, Bo Hjorth, et al.
Publicado: (2011)

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation
por: Olesen, Morten S, et al.
Publicado: (2012)

Brugada Syndrome-Associated Genetic Loci Are Associated With J-Point Elevation and an Increased Risk of Cardiac Arrest
por: Andreasen, Laura, et al.
Publicado: (2018)

A Tunisian patient with CLCN2‐related leukoencephalopathy
por: Ben Mohamed, Dina, et al.
Publicado: (2022)

Small conductance calcium activated K(+) channel inhibitor decreases stretch induced vulnerability to atrial fibrillation
por: Yan, Yannan, et al.
Publicado: (2021)

High prevalence of genetic variants previously associated with LQT syndrome in new exome data
por: Refsgaard, Lena, et al.
Publicado: (2012)

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel
por: Skálová, Daniela, et al.
Publicado: (2013)

Risk of atrial fibrillation and stroke in rheumatoid arthritis: Danish nationwide cohort study
por: Lindhardsen, Jesper, et al.
Publicado: (2012)

Clinical Characteristics and Analysis of CLCN1 in Patients with "EMG Disease"
por: Nam, Tai-Seung, et al.
Publicado: (2012)

Identification of Somatic Mutations in CLCN2 in Aldosterone-Producing Adenomas
por: Rege, Juilee, et al.
Publicado: (2020)

Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
por: Almasoudi, Wejdan, et al.
Publicado: (2023)

Electrocardiographic markers of subclinical atrial fibrillation detected by implantable loop recorder: insights from the LOOP Study
por: Xing, Lucas Yixi, et al.
Publicado: (2023)

Effects of Atrial Fibrillation Screening According to N-Terminal Pro-B-Type Natriuretic Peptide: A Secondary Analysis of the Randomized LOOP Study
por: Xing, Lucas Yixi, et al.
Publicado: (2023)

Continuous cardiac monitoring in a patient with terminal pulmonary hypertension and eventual bilateral lung transplantation
por: Andersen, Mads Ørbæk, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_05sqco2lb31uco1jh6cvvmn23c