Results 141 to 150 of about 4,086 (181)

Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients. [PDF]

Orphanet J Rare Dis
Yang J, Li K, Liu F, Kong L, Liu Y, She F, He R, Lv T, Liu F, Zhang P.   +9 more
europepmc   +1 more source

Synaptic alterations in pyramidal cells following genetic manipulation of neuronal excitability in monkey prefrontal cortex. [PDF]

J Neurophysiol
Gonzalez-Burgos G, Miyamae T, Nishihata Y, Krimer OL, Wade K, Fish KN, Arion D, Cai ZL, Xue M, Stauffer WR, Lewis DA.   +10 more
europepmc   +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, Il Nam Sunwoo, Song Ja Kim   +2 more
exaly   +4 more sources

Association between Sour Taste SNP KCNJ2-rs236514, Diet Quality and Mild Cognitive Impairment in an Elderly Cohort

Nutrients, 2021
Differences in sour-taste thresholds have been identified in cognition-related diseases. Diet is a modulator of cognitive health, and taste perception influences dietary preferences and habits.
Celeste Ferraris, Alexandria Turner, Christopher J Scarlett   +2 more
exaly   +2 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

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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

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome

Journal of Molecular and Cellular Cardiology, 2003
Andersen's syndrome (AS) (which is characterized by periodic paralysis, cardiac arrhythmias and dysmorphic features), a hereditary disease, and missense mutations of KCNJ2 (which encodes an inward rectifying potassium channel) have been reported recently.
Yukio Hosaka, Haruo Hanawa, Takashi Washizuka   +2 more
exaly   +3 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

Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen–Tawil syndrome

Canadian Journal of Physiology and Pharmacology, 2015
Loss-of-function mutations of the KCNJ2 gene encoding for the inward rectifier potassium channel subunit Kir2.1 cause Andersen-Tawil Syndrome (ATS), a rare genetic disorder characterised by periodic paralysis, ventricular arrhythmias, and dysmorphic ...
Balázs Ordog, Lidia Hategan, Maria Kovacs   +2 more
exaly   +2 more sources