Results 151 to 160 of about 6,365 (192)

Lifestyle and dietary measures in Periodic Paralyses. [PDF]

Acta Myol
Politano L.
europepmc   +1 more source

Cardiac arrhythmias and genetics - current stage. [PDF]

Med Genet
Schulze-Bahr, Dittmann S, Kerkering J.
europepmc   +1 more source

The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature. [PDF]

J Pers Med
Boulmpou A, Giannopoulos A, Papadopoulos C, Giannopoulos G, Papagiannis I, Zormpas G, Keivanidou A, Fidani L, Vassilikos V.   +8 more
europepmc   +1 more source

Emerging roles of spexin in cardiovascular homeostasis. [PDF]

Front Cardiovasc Med
Wang S, Xie J, Li Z, Mao L, Dang X.
europepmc   +1 more source

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Polymorphic ventricular tachycardia and KCNJ2 mutations

Heart Rhythm, 2004
We sought to identify the electrophysiologic basis of life-threatening events associated with polymorphic ventricular tachycardia (PVT) in young patients with heterozygous KCNJ2 mutations. PVT describes a beat-to-beat alternating QRS axis and morphology during ventricular tachycardia.
Terrence U H, Chun, Michael R, Epstein, Macdonald, Dick, Gregor, Andelfinger, Leomar, Ballester, Carlos G, Vanoye, Alfred L, George, D Woodrow, Benson   +7 more
openaire   +2 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

Inhibition of Kir2.1 (KCNJ2) by the AMP-activated protein kinase

Biochemical and Biophysical Research Communications, 2011
The inward rectifier K(+) channel Kir2.1 participates in the maintenance of the cell membrane potential in a variety of cells including neurons and cardiac myocytes. Mutations of KCNJ2 encoding Kir2.1 underlie the Andersen-Tawil syndrome, a rare disorder clinically characterized by periodic paralysis, cardiac arrhythmia and skeletal abnormalities.
Ioana Alesutan, Mentor Sopjani, Miribane Dërmaku-Sopjani   +2 more
exaly   +5 more sources

Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation

Heart Rhythm, 2007
We report the first case of a patient with Andersen syndrome in whom electrophysiologic study was performed. The patient was a 19-year-old woman with familial periodic paralysis, abnormal QT-U complex, and nonsustained ventricular tachycardia. Mutation analysis revealed a missense mutation in KCNJ2, a component of Kir2.1.
Satoshi, Nagase, Kengo Fukushima, Kusano, Masashi, Yoshida, Tohru, Ohe   +3 more
openaire   +2 more sources

Investigation of Missense Mutations in KCNJ2 Gene: A Computational Approach

Research Journal of Pharmacy and Technology, 2015
Though gene are already known to be responsible for ATS, but the knowledge of missense mutation that disease gene have still to be under covered. The present study has focused aims to address this issue particularly in KCNJ2 (Potassium Inwardly-Rectifying Channel, Subfamily J, Member 2) gene aid of computational approach. Initially 64 missense mutation
Kanika Verma, V. Shanthi, K. Ramanathan
openaire   +1 more source