Results 101 to 110 of about 2,693,618 (154)

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

Frontiers in Genetics
IntroductionLong QT syndrome (LQTS) is an autosomal dominant inherited cardiac condition characterized by a QT interval prolongation and risk of sudden death. There are 17 subtypes of this syndrome associated with genetic variants in 11 genes. The second
Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Patricia Guevara-Ramirez, Santiago Cadena-Ullauri, Elius Paz-Cruz, Viviana A. Ruiz-Pozo, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ana Karina Zambrano   +9 more
doaj   +1 more source

Generation of a set of genetically modified long QT syndrome induced pluripotent stem cell lines carrying knock-in variants rs120074178 (KCNQ1 c.569G > A; p.Arg190Gln) and rs137854600 (SCN5A c.4865G > A; p.Arg1622Gln) and isogenic control lines

Stem Cell Research
Long QT syndrome (LQTS) is an inherited channelopathy characterized by life-threatening arrhythmias. LQTS has many subtypes defined by the gene that contains the mutation, including LQT1 (KCNQ1), LQT2 (KCNH2), and LQT3 (SCN5A).
Nayara Sousa da Silva, Agnieszka D’Antonio-Chronowska, Reyna Hernandez-Benitez, Angelina Rose McCarron, Esra Karaca, Kai Fang, Juan Carlos Izpisua Belmonte, Athanasia D. Panopoulos, Keiichiro Suzuki, Kelly A. Frazer   +9 more
doaj   +1 more source

Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures

, 2009
BACKGROUND: Long QT syndrome (LQTS) is characterized by corrected QT interval prolongation leading to torsades de pointes and sudden cardiac death.
Ficker, Eckhard, Chahine, Mohamed, Osswald, Stefan, Keller, D I, Brink, M, Marijke Brink, Julie Grenier, Dagmar I. Keller, Mohamed Chahine, Christeé, G, Chahine, M, Ficker, E, Dubouloz, Frédérique, Brink, Marijke, Dubouloz, F, Eckhard Ficker, Christé, Georges, Stefan Osswald, Osswald, S, Grenier, Julie, Grenier, J, Georges Christé, Frédérique Dubouloz, Keller, Dagmar I.   +23 more
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Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing

BMC Medical Genomics
Background Long QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening arrhythmias.
Erfan Kohansal, Niloofar Naderi, Amir Farjam Fazelifar, Majid Maleki, Samira Kalayinia   +4 more
doaj   +1 more source

First index patient ECG, positions of KCNH2 mutations and second index patient ECG.

A. ECG of first index patient. ECG revealed prolonged QT and visible T-wave alternans. B. Cartoon of the KCNH2 gene showing the location of P632L and S432P. C. Representative ECG of the second index patient.
Jacqueline Treat (17743170), Makarand Deo (10977549), Bright Tsevi (10977537), Anthony Owusu-Mensah (17743167), Michel Audette (13801143), Jonathan M. Cordeiro (9660155), Robert Goodrow (17743173), Victoria Lam (17743176), Joyce Bernardi (6187244), Ryan Pfeiffer (624958)   +9 more
core   +1 more source

Bio-computational analysis of human genomic variation in KCNH2 gene in chromosome 7

, 2011
SNP, otherwise known as Single Nucleotide Polymorphism is the single nucleotide substitution of one base for another in the genetic sequence of individuals. Polymorphisms are related to traits specific to a particular ethnicity or population.
Ong, Yuquan
core  

Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRPI ion channel:Implications for acquired and congenital long Q-T syndrome

, 2001
Background: The voltage-gated, rapid-delayed rectifier current (IKr) is important for repolarization of the heart, and mutations in the genes coding for the K+-ion channel conducting this current, i.e., KCNH2 for the α-subunit HERG and KCNE2 for the β ...
Larsen, L. A., Andersen, P. S., Svendsen, I. H., Kanters, J., TranebjÆrg, L., Vuust, J., Wettrell, G., Bathen, J., Jacobsen, J. R., Christiansen, M.   +9 more
core   +1 more source

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death

, 2013
There has been increased interest in a possible association between epilepsy channelopathies and cardiac arrhythmias, such as long QT syndrome (LQTS).
Pezzella, Marianna, Campuzano O, Massimo Mantegazza, Mantegazza, Massimo, Vincenzo L. Pascali, Pasquale Striano, Ramon Brugada, Tassinari CA, Tassinari, Carlo Alberto, Paravidino R, Oliva A, Cestèle S, Marianna Pezzella, Pascali, Vincenzo Lorenzo, Pascali, Vincenzo L, Campuzano, Oscar, Pascali, Vincenzo, Federico Zara, Cest?le S, Pascali VL, Striano, Pasquale, Brugada R, Pezzella M, Striano, Salvatore, Paravidino, Roberta, Striano S, Partemi S, Oscar Campuzano, Carlo Alberto Tassinari, Partemi, Sara, Zara, Federico, Roberta Paravidino, Antonio Oliva, Cestèle, Sandrine, Brugada, Ramon, Sara Partemi, Salvatore Striano, Zara F, Oliva, Antonio, Sandrine Cestèle, Mantegazza M   +40 more
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Elektrophysiologische und pharmakologische Charakterisierung von KCNQ1-modulierten KCNH2-Ionenströmen

, 2011
Vorarbeiten hatten eine Interaktion zwischen KCNQ1 und KCNH2 gezeigt. Die vorliegende Arbeit zielte darauf, den Mechanismus der Interaktion mittels elektrophysiologischer und pharmakologischer Methoden zu ermitteln.
Rüdiger, André
core  

A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia

, 2009
Organized neuronal firing is crucial for cortical processing and is disrupted in schizophrenia. Using rapid amplification of 5′ complementary DNA ends in human brain, we identified a primate-specific isoform (3.1) of the ether-a-go-go-related K+ channel ...
Feng Yang, Karine Mayilyan, Weinberger D. R., Yang F., Mayilyan, Karine, Venkata Mattay, Huffaker, Stephen J, Giegling, Ina, Daniel R Weinberger, Lu, Bai, Mayilyan K., Lipska, Barbara K, Ji Y., Chen, Jingshan, Ina Giegling, Grazia Caforio, Meyer Lindenberg, Andreas, Fabio Sambataro, Song J., Nicodemus, Kristin K, Morgan J Proust, Hyde, Thomas M, Jingshan Chen, Joseph H Callicott, Callicott J. H., Egan M. F., Bai Lu, Huffaker S. J., Michael F Egan, Yang, Feng, Callicott, Joseph H, Hyde T. M., Stephen J Huffaker, Goldberg T. E., Proust, Morgan J, Yuanyuan Ji, Soghoyan, Armen, Proust M. J., Andreas Meyer-Lindenberg, Dan Rujescu, Barbara K Lipska, Chang J., SAMBATARO, Fabio, Kristin K Nicodemus, Meyer-Lindenberg A., Lipska B. K., Thomas M Hyde, Soghoyan A., Caforio G., Egan, Michael F, Ji, Yuanyuan, Armen Soghoyan, Rujescu D., Lu B., Bertolino A., Bertolino, Alessandro, Caforio, Grazia, Chen J., Kleinman J. E., Song, Jian, Alessandro Bertolino, Jian Song, Mattay V., Terry E Goldberg, Joel E Kleinman, Goldberg, Terry E, Giegling I., Mattay, Venkata, Sambataro F., Chang, Jay, Nicodemus K. K., Rujescu, Dan, Weinberger, Daniel R., Kleinman, Joel E, Jay Chang   +74 more
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