Results 41 to 50 of about 4,015 (188)

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies

Frontiers in Physiology, 2022
In 2009, two groups independently linked human mutations in the inwardly rectifying K+ channel Kir4.1 (gene name KCNJ10) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption.
Jacky Lo, Anna-Lena Forst, Richard Warth, Anselm A. Zdebik, Anselm A. Zdebik   +4 more
doaj   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1

Neurobiology of Disease, 2011
The inwardly-rectifying potassium channel Kir4.1 is a major player in the astrocyte-mediated regulation of [K+]o in the brain, which is essential for normal neuronal activity and synaptic functioning.
Federico Sicca, Paola Imbrici, Maria Cristina D'Adamo, Francesca Moro, Fabrizia Bonatti, Paola Brovedani, Alessandro Grottesi, Renzo Guerrini, Gabriele Masi, Filippo Maria Santorelli, Mauro Pessia   +10 more
doaj   +1 more source

The effect of high-dietary K+ (HK) on Kir4.1/Kir5.1 and ROMK in the distal convoluted tubule (DCT) is not affected by gender and Cl− content of the diet

Frontiers in Physiology, 2022
Basolateral potassium channels in the distal convoluted tubule (DCT) are composed of inwardly-rectifying potassium channel 4.1 (Kir4.1) and Kir5.1. Kir4.1 interacts with Kir5.1 to form a 40 pS K+ channel which is the only type K+ channel expressed in the
Xin-Xin Meng, Hao Zhang, Gui-Lin Meng, Shao-Peng Jiang, Xin-Peng Duan, Wen-Hui Wang, Ming-Xiao Wang   +6 more
doaj   +1 more source

Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]

, 2017
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
core   +1 more source

The expression, regulation, and function of Kir4.1 (Kcnj10) in the mammalian kidney [PDF]

American Journal of Physiology-Renal Physiology, 2016
Kir4.1 is an inwardly rectifying potassium (K+) channel and is expressed in the brain, inner ear, and kidney. In the kidney, Kir4.1 is expressed in the basolateral membrane of the late thick ascending limb (TAL), the distal convoluted tubule (DCT), and the connecting tubule (CNT)/cortical collecting duct (CCD).
Xiao-Tong, Su, Wen-Hui, Wang
openaire   +2 more sources

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance

Human Genomics, 2019
Background Dysfunction in inwardly rectifying potassium channel Kir4.1 has been implicated in SeSAME syndrome, an autosomal-recessive (AR), rare, multi-systemic disorder.
Ravi K. Nadella, Anirudh Chellappa, Anand G. Subramaniam, Ravi Prabhakar More, Srividya Shetty, Suriya Prakash, Nikhil Ratna, V. P. Vandana, Meera Purushottam, Jitender Saini, Biju Viswanath, P. S. Bindu, Madhu Nagappa, Bhupesh Mehta, Sanjeev Jain, Ramakrishnan Kannan   +15 more
doaj   +1 more source

Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis

Frontiers in Neurology, 2020
Astrocytes regulate potassium and glutamate homeostasis via inwardly rectifying potassium (Kir) 4.1 channels in synapses, maintaining normal neural excitability.
Masato Kinboshi, Masato Kinboshi, Akio Ikeda, Yukihiro Ohno   +3 more
doaj   +1 more source

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)

G3: Genes, Genomes, Genetics, 2017
Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed.
Nico Mauri, Miriam Kleiter, Michael Leschnik, Sandra Högler, Elisabeth Dietschi, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O’Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan, Tosso Leeb   +17 more
doaj   +1 more source

Regulation of Kir4.1 expression in astrocytes and astrocytic tumors: a role for interleukin-1 beta [PDF]

, 2012
Objective Decreased expression of inwardly rectifying potassium (Kir) channels in astrocytes and glioma cells may contribute to impaired K+ buffering and increased propensity for seizures. Here, we evaluated the potential effect of inflammatory molecules,
A Andersson, A Bordey, A Kivi, A Reichenbach, A Sasaki, A Vezzani, A Vezzani, A Vezzani, A Warth, Anand Iyer, B Djukic, B Giometto, C Ramakers, C Steinhauser, C Steinhauser, CA Dinarello, D Bockenhauer, DM Wilcock, DN Louis, E Aronica, E Aronica, E Aronica, E Aronica, E Aronica, E Aronica, E Zurolo, Eleonora Aronica, Emanuele Zurolo, Erwin A van Vliet, F Casamenti, G Seifert, G Tan, HC Patel, HS Hreggvidsdottir, JA Gorter, JA Gorter, Jaap C Reijneveld, Jan A Gorter, Jan J Heimans, Jasper Anink, JE Kim, K Hayakawa, K Iwami, M de Groot, M de Groot, M Kaiser, M Maroso, M Thom, Marjolein de Groot, ME Bianchi, MG De Simoni, ML Olsen, ML Olsen, ML Olsen, MN Stienen, N Ishii, N Rothwell, NN Haj-Yasein, O Chever, PK Smith, R Bassi, R Jauch, R Srivastava, RM Gibson, S Hu, S Ivens, SM Lucas, T Pannicke, T Ravizza, TH Stewart, U Heinemann, V Sharma, W Schroder, Y Zhang, Z Zhang, ZC Ye   +75 more
core   +5 more sources