Results 41 to 50 of about 4,086 (181)

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan

Frontiers in Neurology, 2023
IntroductionGenetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan.MethodsWe obtained a Japanese nationwide case series of 119 ...
Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura, Tomonori Nakamura, Yu Hiramatsu, Yusuke Sakiyama, Hiroshi Takashima   +8 more
doaj   +1 more source

DataSheet1_Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.pdf

, 2021
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pascal Amedro (11754329), Alexandre Janin (11754332), Nathalie Roux-Buisson (10258445), Mathilde Folacci (11754326), Julien Fauré (5771993), Lucile Pinson (11130013), Gilles Millat (277846), Pauline Le Tanno (11754323), Michel Vivaudou (141672), Jean Revilloud (226552), Gabriel Laurent (737615), Laurence Faivre (397333)   +11 more
core   +1 more source

Soluble Epoxide Hydrolase Inhibitors Regulate Ischemic Arrhythmia by Targeting MicroRNA-1

Frontiers in Physiology, 2021
Background: Soluble epoxide hydrolase inhibitors (sEHis) inhibit the degradation of epoxyeicosatrienoic acids (EETs) in cells, and EETs have antiarrhythmic effects.
Yanying Chen, Qiong Liu, Tian Yang, Li Shen, Danyan Xu   +4 more
doaj   +1 more source

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus. [PDF]

HGG Adv
The aim of this work was to identify the underlying genetic cause in a four-generation family segregating an unusual phenotype comprising a severe form of skeletal Class II malocclusion with gingival hyperplasia.
Maroofian R, Pagnamenta AT, Navabazam A, Schwessinger R, Roberts HE, Lopopolo M, Dehghani M, Vahidi Mehrjardi MY, Haerian A, Soltanianzadeh M, Noori Kooshki MH, Knight SJL, Miller KA, McGowan SJ, Chatron N, Timberlake AT, Melo US, Mundlos S, Buck D, Twigg SRF, Taylor JC, Wilkie AOM, Calpena E.   +22 more
europepmc   +4 more sources

Potassium channel gene mutations rarely cause atrial fibrillation

BMC Medical Genetics, 2006
Background Mutations in several potassium channel subunits have been associated with rare forms of atrial fibrillation. In order to explore the role of potassium channels in inherited typical forms of the arrhythmia, we have screened a cohort of patients
Nam Edwin G, Zakharova Elena, Petrov-Kondratov Vadim I, Ellinor Patrick T, MacRae Calum A   +4 more
doaj   +1 more source

Data_Sheet_1_Sour Taste SNP KCNJ2-rs236514 and Differences in Nutrient Intakes and Metabolic Health Markers in the Elderly.xlsx

, 2021
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 ...
Mark Lucock (8576094), Tamara Bucher (7463855), Martin Veysey (8576100), Christopher J. Scarlett (11279982), Emma L. Beckett (11279985), Celeste Ferraris (11279976), Alexandria Turner (11279979)   +6 more
core   +1 more source

Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome

, 2013
Andersen-Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2 and low prevalence of life-threatening ventricular arrhythmias. Our aim was to describe the clinical course of ATS in a family, in which the proband
Lundin, Catarina,, Hertervig, Eva,, Platonov, Pyotr,, Fernlund, Eva,, Lund University., Kongstad Rasmussen, Ole,, Alders, M   +6 more
core   +2 more sources

Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome

, 2004
Mutations of the KCNJ2 gene encoding the potassium channel Kir2.1 were previously shown to cause Andersen's syndrome (AS), a multisystem disease manifesting with developmental abnormalities, cardiac arrhythmias and periodic paralyses.
Schild, L., Gautschi, I., Loffing, J., Swan, H., Auberson, M., Fodstad, H., Kontula, K.   +6 more
core   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

Epilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon, Shuyun Wang, Qinghua Liu, Chunling Chen, Alexander M. Greiner, Abigail M. Marx, Maya Shih, Jack M. Parent, Barry London, Lori L. Isom   +9 more
wiley   +1 more source