Results 101 to 110 of about 4,086 (181)

KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes

, 2002
Evaluation of candidate loci culminated in the identification of a heterozygous missense mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2.1, in 41 members of a kindred in which ventricular arrhythmias (13 of 16 ...
Andelfinger, Gregor, Tapper, Andrew R., George, Alfred L., Vanoye, Carlos G., Benson, D. Woodrow, Welch, Richard C.   +5 more
core   +1 more source

Two Families of Andersen’s Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations [PDF]

, 2006
Andersen's syndrome is a rare autosomal dominant disorder characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is known to be a type of potassium channelopathies with a mutation in the KCNJ2 (Kir2.1) gene. Here,
선우일남, 김승민
core  

KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia.

, 2013
We describe a mutation (E299V) in KCNJ2, the gene that encodes the strong inward rectifier K(+) channel protein (Kir2.1), in an 11-y-old boy. The unique short QT syndrome type-3 phenotype is associated with an extremely abbreviated QT interval (200 ms ...
Ruan Y, Pandit SV, Berenfeld O, CERRONE, MARINA, Deo M, Denegri M, Blaufox A, Jalife J, Shah K, Noujaim SF, PRIORI, SILVIA GIULIANA   +10 more
core   +1 more source

Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism

BMC Nephrology
Background Familial hypokalemic periodic paralysis (HypoPP) is an uncommon genetic disorder characterized by recurrent episodes of muscle weakness and hypokalemia, typically starting in early adulthood. The existence of hyperthyroidism in the presence of
Zein Alabdin Hannouneh, C. Elena Cervantes, C. John Sperati, Mohamad Hanouneh   +3 more
doaj   +1 more source

Exploring the transcriptomic landscape of moyamoya disease and systemic lupus erythematosus: insights into crosstalk genes and immune relationships

Frontiers in Immunology
BackgroundSystemic Lupus Erythematosus (SLE) is acknowledged for its significant influence on systemic health. This study sought to explore potential crosstalk genes, pathways, and immune cells in the relationship between SLE and moyamoya disease (MMD ...
Qingbao Guo, Qingbao Guo, Qingbao Guo, Yan-Na Fan, Manli Xie, Qian-Nan Wang, Jingjie Li, Jingjie Li, Jingjie Li, Simeng Liu, Simeng Liu, Simeng Liu, Xiaopeng Wang, Xiaopeng Wang, Xiaopeng Wang, Dan Yu, Zhengxing Zou, Gan Gao, Gan Gao, Gan Gao, Qian Zhang, Fangbin Hao, Fangbin Hao, Fangbin Hao, Jie Feng, Rimiao Yang, Minjie Wang, Minjie Wang, Minjie Wang, Heguan Fu, Xiangyang Bao, Lian Duan   +31 more
doaj   +1 more source

Sour Taste SNP KCNJ2-rs236514 and Differences in Nutrient Intakes and Metabolic Health Markers in the Elderly

Single nucleotide polymorphisms (SNPs) in taste receptors influence dietary choices that contribute to health and quality of life. Individual differences in sour taste perception and preference have been linked to heritable genetics, yet the impact of ...
Tamara Bucher (21140225), Mark Lucock (21132056), Emma Beckett (21135797), Martin Veysey (21132110), Celeste Ferraris (21315299), Alexandria Turner (21141782), Christopher Scarlett (21132158)   +6 more
core  

811-1 Frequency, spectrum, and phenotype of KCNJ2 mutations among patients referred for long QT (LQT) syndrome genetic testing: Is KCNJ2 LQT7?

Journal of the American College of Cardiology, 2004
Rodriguez, Esther H, Hammill, Daniel, Tester, David J, Ackerman, Michael J   +3 more
openaire   +1 more source

Heterogeneity of clinical syndromes related to loss of function mutations in KCNJ2 [PDF]

Interventional Cardiology, 2016
Matt Kalscheur, Hannah Van Ert, Lee L Eckhardt   +2 more
openaire   +1 more source

Familial Short QT Syndrome: Phenotypic Variability and Challenges in Risk Stratification. [PDF]

J Clin Med
Bouzón P, Alen A, Salgado M, González-Urbistondo F, Vega-Prado LM, Coto E, Rodríguez-Reguero JJ, Gomez J, Fernández-Barrio B, Avanzas P, Lorca R.   +10 more
europepmc   +1 more source

Bidirectional ventricular tachycardia in a young woman with prominent U waves: what is the diagnosis? [PDF]

Eur Heart J Case Rep
Saplaouras A, Theocharidis A, Letsas KP.
europepmc   +1 more source