Results 31 to 40 of about 3,487 (142)

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) [PDF]

Journal of Clinical Investigation, 2002
Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1.
M. Tristani Firouzi, J. L. Jensen, M. R. Donaldson, V. Sansone, G. Meola, A. Hahn, S. Bendahhou, H. Kwiecinski, A. Fidzianska, N. Plaster, Y. H. Fu, L. J. Ptacek, R. Tawil   +12 more
openaire   +2 more sources

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 [PDF]

Journal of Medical Genetics, 2007
Background: The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes—for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations—but the aetiology of non-syndromic PRS has not yet been unravelled.
Jakobsen, L.P., Ullmann, R., Christensen, S.B., Jensen, K.E., Molsted, K., Henriksen, K.F., Hansen, C., Knudsen, Mads Andreas Faurschou, Larsen, L.A., Tommerup, Niels, Tümer, Asuman Zeynep   +10 more
openaire   +3 more sources

Potassium channel gene mutations rarely cause atrial fibrillation

BMC Medical Genetics, 2006
Background Mutations in several potassium channel subunits have been associated with rare forms of atrial fibrillation. In order to explore the role of potassium channels in inherited typical forms of the arrhythmia, we have screened a cohort of patients
Nam Edwin G, Zakharova Elena, Petrov-Kondratov Vadim I, Ellinor Patrick T, MacRae Calum A   +4 more
doaj   +1 more source

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

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   +1 more source

Novel KCNJ2 Mutation in Familial Periodic Paralysis With Ventricular Dysrhythmia [PDF]

Circulation, 2002
Background — Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K + channels (Kir2.1), produce Andersen’s syndrome, which is characterized
Tomohiko, Ai, Yuichiro, Fujiwara, Keiko, Tsuji, Hideo, Otani, Shozo, Nakano, Yoshihiro, Kubo, Minoru, Horie   +6 more
openaire   +2 more sources

Obstructive Sleep Apnea and Circulating Potassium Channel Levels

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundCardiac arrhythmias and sudden cardiac death are more frequent in patients with obstructive sleep apnea (OSA). OSA is associated with QT prolongation, and QT prolongation is an independent risk factor for sudden cardiac death.
Ning Jiang, Anyu Zhou, Bharati Prasad, Li Zhou, Jimmy Doumit, Guangbin Shi, Hafiz Imran, Bahaa Kaseer, Richard Millman, Samuel C. Dudley   +9 more
doaj   +1 more source

Modelling the effects of chloroquine onKCNJ2-linked short QT syndrome

Oncotarget, 2017
A gain-of-function KCNJ2 D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death. Anti-malarial drug chloroquine was reported as an effective inhibitor of Kir2.1 channels. Using biophysically-detailed human ventricle computer models,
Luo, Cunjin, Wang, Kuanquan, Zhang, Henggui   +2 more
openaire   +6 more sources

Population‐Based Study Found Low Risk of Misdiagnosing Long QT Syndrome as Breath‐Holding Spells in Swedish Children

Acta Paediatrica, EarlyView.
ABSTRACT Aim An electrocardiogram is commonly recommended in breath‐holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath‐holding spells in a paediatric population in southern Sweden.
Sanna Hellström Schmidt, Ida Jeremiasen, Erik A. Eklund, Cornelis Jan Pronk   +3 more
wiley   +1 more source

Generation of a human PBMC induced pluripotent stem cell line JXEYi001-A-iPSC from a pediatric patient with ventricular arrhythmias

Stem Cell Research
This study established an iPSC line, JXEYi001-A, from a 7-year-old male with a KCNJ2 mutation linked to ventricular arrhythmias (VA). KCNJ2 encodes Kir2.1, essential for cardiac repolarization; its mutations can cause short QT syndrome, increasing VA ...
Yunguo Zhou, Yang Shen, Keyu Jiang, Fei Xu, Junkai Duan, Jinzhu Hu   +5 more
doaj   +1 more source

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 ...
Byung-Ok, Choi, Joonki, Kim, Bum Chun, Suh, Jin Seok, Yu, Il Nam, Sunwoo, Song Ja, Kim, Gwang Hoon, Kim, Ki Wha, Chung   +7 more
openaire   +2 more sources