نتایج جستجو برای: kcne2 gene

تعداد نتایج: 1141429  

2005
Arne Pfeufer Shapour Jalilzadeh Siegfried Perz Jakob C. Mueller Martin Hinterseer Thomas Illig Mahmut Akyol Cornelia Huth Andreas Schöpfer-Wendels Bernhard Kuch Gerhard Steinbeck Rolf Holle Michael Näbauer H.-Erich Wichmann Thomas Meitinger Stefan Kääb

Altered myocardial repolarization is one of the important substrates of ventricular tachycardia and fibrillation. The influence of rare gene variants on repolarization is evident in familial long QT syndrome. To investigate the influence of common gene variants on the QT interval we performed a linkage disequilibrium based SNP association study of four candidate genes. Using a two-step design w...

2015
Adrian M. Stankiewicz Joanna Goscik Alicja Majewska Artur H. Swiergiel Grzegorz R. Juszczak Gualtiero I. Colombo

Psychogenic stress contributes to the formation of brain pathology. Using gene expression microarrays, we analyzed the hippocampal transcriptome of mice subjected to acute and chronic social stress of different duration. The longest period of social stress altered the expression of the highest number of genes and most of the stress-induced changes in transcription were reversible after 5 days o...

Journal: :Circulation 2007
Marianne Arnestad Lia Crotti Torleiv O Rognum Roberto Insolia Matteo Pedrazzini Chiara Ferrandi Ashild Vege Dao W Wang Troy E Rhodes Alfred L George Peter J Schwartz

BACKGROUND The hypothesis that some cases of sudden infant death syndrome (SIDS) could be caused by long-QT syndrome (LQTS) has been supported by molecular studies. However, there are inadequate data regarding the true prevalence of mutations in arrhythmia-susceptibility genes among SIDS cases. Given the importance and potential implications of these observations, we performed a study to more a...

Journal: :Circulation 2000
I Splawski J Shen K W Timothy M H Lehmann S Priori J L Robinson A J Moss P J Schwartz J A Towbin G M Vincent M T Keating

BACKGROUND Long-QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on ECG and presence of syncope, seizures, and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Mutations in KVLQT1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of ...

Journal: :American journal of medical genetics. Part A 2015
Neil E Bowles Chuanchau J Jou Cammon B Arrington Brett J Kennedy Aubree Earl Norisada Matsunami Lindsay L Meyers Susan P Etheridge Elizabeth V Saarel Steven B Bleyl H Joseph Yost Mark Yandell Mark F Leppert Martin Tristani-Firouzi Peter J Gruber

Wolff-Parkinson-White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed...

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