Results 1 to 10 of about 3,372 (135)

Experimental mapping of the canine KCNJ2 and KCNJ12 gene structures and functional analysis of the canine KIR2.2 ion channel [PDF]

Frontiers in Physiology, 2012
For many model organisms traditionally in use for cardiac electrophysiological studies, characterization of ion channel genes is lacking. We focused here on two genes encoding the inward rectifier current, KCNJ2 and KCNJ12, in the dog heart.
Marien J.C. Houtman, Hiroki eTakanari, Bart G.J.M. Kok, Margot evan Eck, Denise R. Montagne, Marc A. Vos, Teun P de Boer, Marcel A.G. van der Heyden   +7 more
doaj   +5 more sources

Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report [PDF]

Biomolecules
Andersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life.
Maria Elena Onore, Esther Picillo, Paola D’Ambrosio, Salvatore Morra, Vincenzo Nigro, Luisa Politano   +5 more
doaj   +4 more sources

Expression of a Mutant kcnj2 Gene Transcript in Zebrafish. [PDF]

ISRN Mol Biol, 2013
Long QT 7 syndrome (LQT7, also known as Andersen-Tawil syndrome) is a rare autosomal-dominant disorder that causes cardiac arrhythmias, periodic paralysis, and dysmorphic features. Mutations in the human KCNJ2 gene, which encodes for the subunit of the potassium inwardly-rectifying channel (IK1), have been associated with the disorder.
Leong IU, Skinner JR, Shelling AN, Love DR.   +3 more
europepmc   +4 more sources

Patients with Dilated Cardiomyopathy and Sustained Monomorphic Ventricular Tachycardia Show Up-Regulation of KCNN3 and KCNJ2 Genes and CACNG8-Linked Left Ventricular Dysfunction. [PDF]

PLoS ONE, 2015
Disruptions in cardiac ion channels have shown to influence the impaired cardiac contraction in heart failure. We sought to determine the altered gene expression profile of this category in dilated cardiomyopathy (DCM) patients and relate the altered ...
Ana Ortega, Estefanía Tarazón, Esther Roselló-Lletí, Carolina Gil-Cayuela, Francisca Lago, Jose-Ramón González-Juanatey, Juan Cinca, Esther Jorge, Luis Martínez-Dolz, Manuel Portolés, Miguel Rivera   +10 more
doaj   +11 more sources

Mutations of KCNJ2 gene associated with Andersen–Tawil syndrome in Korean families [PDF]

Journal of Human Genetics, 2007
Mutations of the KCNJ2 gene are a major underlying cause of Andersen-Tawil syndrome (ATS), a rare autosomal dominant inherited disorder that is characterized by periodic paralysis, cardiac arrhythmias, and developmental dysmorphic features. The KCNJ2 gene encodes an inward rectifying K(+) channel protein, Kir2.1, which plays an important role in ...
Gwang Hoon Kim
exaly   +3 more sources

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

Frontiers in Genetics, 2021
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Lucile Pinson, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré   +13 more
doaj   +3 more sources

Chamber-specific chromatin architecture guides functional interpretation of disease-associated Cis-regulatory elements in human cardiomyocytes [PDF]

Nature Communications
Cis-regulatory elements (CREs) are noncoding DNA regions regulating cell-type-specific gene expression programs by interacting with distal gene promoters.
S. Haydar, R. Bednarz, P. Laurette, I. Sobitov, N. Díaz i Pedrosa, P. Videm, T. Lueneburg, S. Kuß, H. Lahm, M. Dreßen, M. Krane, C. Schmidt, B. A. Grüning, N. Voigt, K. Streckfuss-Bömeke, R. Gilsbach   +15 more
doaj   +2 more sources

Novel mutation in KCNJ2 gene causes long QT interval syndrome type 7 and learning disability: A case report. [PDF]

Medicine (Baltimore)
Rationale: Long QT interval syndrome type 7 (LQT7) is a rare hereditary multisystem disorder characterized by a classic triad of ventricular arrhythmias with QT interval prolongation, periodic paralysis, and distinctive skeletal and facial features. The Kir2.1 protein is encoded by the KCNJ2 gene, which has been associated with
Zhang HY, Zhang Y.
europepmc   +3 more sources

Gene and allele-specific expression during electric organ ontogeny in African weakly electric fish (Campylomormyrus) [PDF]

Communications Biology
The African weakly electric fish use their muscle-derived electric organ to produce electric organ discharge (EOD) for electrocommunication and electrolocation.
Feng Cheng, Alice B. Dennis, Linh Nguyen, Otto Baumann, Frank Kirschbaum, Marisol Domínguez, Ralph Tiedemann   +6 more
doaj   +2 more sources

Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. [PDF]

Ann Noninvasive Electrocardiol, 2013
BackgroundAndersen‐Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2 and low prevalence of life‐threatening ventricular arrhythmias. Our aim was to describe the clinical course of ATS in a family, in which the proband survived aborted cardiac arrest (ACA) and genetic screening revealed a previously unknown
Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P.   +5 more
europepmc   +4 more sources