Results 21 to 30 of about 6,365 (192)

Translating cardiovascular ion channel and Ca²⁺ signalling mechanisms into therapeutic insights. [PDF]

J Physiol
Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies. Printed with permission from ®Anita Impagliazzo Medical Illustration. [Correction added on 2 March
Marchianò S, Martín-Aragón Baudel M, Smith CER, Hernandez GH, Bers DM, Boyle PM, Dobrev D, Hamilton S, Harraz OF, Li N, Longden TA, Louch WE, Nieves-Cintron M, Nystoriak MA, Murfee WL, Radwański PB, Sonkusare SK, Navedo MF, Grandi E.   +18 more
europepmc   +2 more sources

Up-Regulation of Kir2.1 (KCNJ2) by the Serum & Glucocorticoid Inducible SGK3 [PDF]

Cellular Physiology and Biochemistry, 2014
Background/Aims: The serum & glucocorticoid inducible kinase SGK3, an ubiquitously expressed serine/threonine kinase, regulates a variety of ion channels.
Carlos Munoz, Tatsiana Pakladok, Ahmad Almilaji, Bernat Elvira, Niels Decher, Ekaterina Shumilina, Florian Lang   +6 more
doaj   +3 more sources

Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study [PDF]

npj Genomic Medicine
Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 
Niccolò Rossi, Najeeb Syed, Alessia Visconti, Elbay Aliyev, Sarah Berry, Mafalda Bourbon, Tim D. Spector, Pirro G. Hysi, Khalid A. Fakhro, Mario Falchi   +9 more
doaj   +2 more sources

Phenotype Variability in Patients CarryingKCNJ2Mutations [PDF]

Circulation: Cardiovascular Genetics, 2012
Background—Mutations ofKCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, cause Andersen-Tawil syndrome (ATS), a disease exhibiting ventricular arrhythmia, periodic paralysis, and dysmorphic features. However, someKCNJ2mutation carriers lack the ATS triad and sometimes share the phenotype of catecholaminergic polymorphic ...
Hiromi, Kimura, Jun, Zhou, Mihoko, Kawamura, Hideki, Itoh, Yuka, Mizusawa, Wei-Guang, Ding, Jie, Wu, Seiko, Ohno, Takeru, Makiyama, Akashi, Miyamoto, Nobu, Naiki, Qi, Wang, Yu, Xie, Tsugutoshi, Suzuki, Shigeru, Tateno, Yoshihide, Nakamura, Wei-Jin, Zang, Makoto, Ito, Hiroshi, Matsuura, Minoru, Horie   +19 more
openaire   +6 more sources

Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil

Zdravniški Vestnik, 2013
Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns in electrocardiogram, periodic paralysis, and dysmorphic features.
Matjaž Šinkovec, Andrej Pernat, Matevž Jan, Bor Antolič, Jernej Kovač, Katarina Trebušak Podkrajšek, Maruša Debeljak   +6 more
doaj   +1 more source

Expression of a Mutant kcnj2 Gene Transcript in Zebrafish. [PDF]

ISRN molecular biology, 2013
Long QT 7 syndrome (LQT7, also known as Andersen-Tawil syndrome) is a rare autosomal-dominant disorder that causes cardiac arrhythmias, periodic paralysis, and dysmorphic features. Mutations in the human KCNJ2 gene, which encodes for the subunit of the potassium inwardly-rectifying channel (IK1), have been associated with the disorder.
Leong, Ivone U. S., Skinner, Jonathan R., Shelling, Andrew N., Love, Donald R.   +3 more
openaire   +2 more sources

Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling [PDF]

Cardiovascular Research, 2012
One form of the short QT syndrome (SQT3) has been linked to the D172N gain-in-function mutation to Kir2.1, which preferentially increases outward current through channels responsible for inward rectifier K(+) current (I(K1)). This study investigated mechanisms by which the Kir2.1 D172N mutation facilitates and perpetuates ventricular arrhythmias.The ...
Adeniran, Ismail, El Harchi, Aziza, Hancox, Jules C, Zhang, Henggui   +3 more
openaire   +4 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   +1 more source

Upregulation of Potassium Voltage-Gated Channel Subfamily J Member 2 Levels in the Lungs of Patients with Idiopathic Pulmonary Fibrosis

Canadian Respiratory Journal, 2020
Background. Fibroblast dysfunction is the main pathogenic mechanism underpinning idiopathic pulmonary fibrosis (IPF). Potassium voltage-gated channel subfamily J member 2 (KCNJ2) plays critical roles in the proliferation of myofibroblasts and in the ...
Jong-Uk Lee, Hun Soo Chang, Chang An Jung, Ryun Hee Kim, Choon-Sik Park, Jong-Sook Park   +5 more
doaj   +1 more source

Patients with Dilated Cardiomyopathy and Sustained Monomorphic Ventricular Tachycardia Show Up-Regulation of KCNN3 and KCNJ2 Genes and CACNG8-Linked Left Ventricular Dysfunction. [PDF]

PLoS ONE, 2015
Disruptions in cardiac ion channels have shown to influence the impaired cardiac contraction in heart failure. We sought to determine the altered gene expression profile of this category in dilated cardiomyopathy (DCM) patients and relate the altered ...
Ana Ortega, Estefanía Tarazón, Esther Roselló-Lletí, Carolina Gil-Cayuela, Francisca Lago, Jose-Ramón González-Juanatey, Juan Cinca, Esther Jorge, Luis Martínez-Dolz, Manuel Portolés, Miguel Rivera   +10 more
doaj   +1 more source