Results 11 to 20 of about 3,632 (118)

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

Frontiers in Genetics, 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.
Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Lucile Pinson, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré   +13 more
doaj   +3 more sources

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

Frontiers in Nutrition, 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 ...
Celeste Ferraris, Alexandria Turner, Christopher J. Scarlett, Martin Veysey, Martin Veysey, Mark Lucock, Tamara Bucher, Tamara Bucher, Tamara Bucher, Emma L. Beckett, Emma L. Beckett, Emma L. Beckett   +11 more
doaj   +3 more sources

Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report

Frontiers in Pediatrics, 2022
Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features.
Jisook Yim, Jisook Yim, Kyoung Bo Kim, Minsun Kim, Gun Dong Lee, Myungshin Kim, Myungshin Kim   +6 more
doaj   +3 more sources

Experimental mapping of the canine KCNJ2 and KCNJ12 gene structures and functional analysis of the canine KIR2.2 ion channel

Frontiers in Physiology, 2012
For many model organisms traditionally in use for cardiac electrophysiological studies, characterization of ion channel genes is lacking. We focused here on two genes encoding the inward rectifier current, KCNJ2 and KCNJ12, in the dog heart.
Marien J.C. Houtman, Hiroki eTakanari, Bart G.J.M. Kok, Margot evan Eck, Denise R. Montagne, Marc A. Vos, Teun P de Boer, Marcel A.G. van der Heyden   +7 more
doaj   +3 more sources

When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked [PDF]

Annals of Noninvasive Electrocardiology
A 26‐year‐old woman with recurrent syncope was diagnosed with Andersen‐Tawil syndrome (ATS) following abnormal electrocardiographic (ECG) findings.
Shasha Yu, Hang Lv
doaj   +2 more sources

Whole Blood Transcriptomic Response to Perioperative Dexamethasone in Total Knee Arthroplasty: A Targeted Panel Analysis. [PDF]

Acta Anaesthesiol Scand
ABSTRACT Background Changes in the transcriptome of immune cells are predictive of clinical outcomes. These effects may be surgery‐specific and possibly modulated by glucocorticoids. We investigated the immune response and the impact of dexamethasone on the response in patients undergoing total knee arthroplasty (TKA). Methods The transcript levels (n =
Mølgaard AK, Gasbjerg KS, Balsevicius L, Cappelen B, Orhan A, Pardes HY, Mathiesen O, Litman T, Hägi-Pedersen D, Gögenur I.   +9 more
europepmc   +2 more sources

Atomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes [PDF]

Scientific Reports
KCNJ2 encodes the inward rectifying potassium channel (Kir2.1) that underlies I K1 which maintains the cardiac resting membrane potential and regulates excitability.
Saba Munawar, Corey L. Anderson, Louise Reilly, Ryan Woltz, Yusra Sajid Kiani, Nipavan Chiamvimonvat, Lee L. Eckhardt   +6 more
doaj   +2 more sources

Depolarization induces calcium-dependent BMP4 release from mouse embryonic palate mesenchymal cells [PDF]

Nature Communications
Bone Morphogenetic Protein (BMP) signaling is essential for craniofacial development, though little is known about the mechanisms that govern BMP secretion.
Mikaela L. Follmer, Trevor J. Isner, Yunus H. Ozekin, Claire H. Levitt, Carolyn L. Burek, Richard K. P. Benninger, Emily Anne Bates   +6 more
doaj   +2 more sources

KCNJ2/HIF1α positive-feedback loop promotes the metastasis of osteosarcoma

Cell Communication and Signaling, 2023
Background Early metastasis is a hallmark of osteosarcoma (OS), a highly common type of malignant tumor. Members of the potassium inwardly rectifying channel family exert oncogenic effects in various cancers.
Mao Shen, Runsang Pan, Shan Lei, Lu Zhang, Changhua Zhou, Zhirui Zeng, Yingjie Nie, Xiaobin Tian   +7 more
doaj   +1 more source

Overexpression of KCNJ2 enhances maturation of human-induced pluripotent stem cell-derived cardiomyocytes

Stem Cell Research & Therapy, 2023
Background Although human-induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) are a promising cell resource for cardiovascular research, these cells exhibit an immature phenotype that hampers their potential applications.
Jingjun Zhou, Baiping Cui, Xiaochen Wang, Hongkun Wang, Junnan Zheng, Fengfeng Guo, Yaxun Sun, Hangping Fan, Jiaxi Shen, Jun Su, Jue Wang, Haige Zhao, Yiquan Tang, Tingyu Gong, Ning Sun, Ping Liang   +15 more
doaj   +1 more source