Search
Results: 4
ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation.
Cullin‐3 ROMK WNK kinases hyperkalemia Proteasome ubiquitin‐ligase complex Adaptor Proteins Signal Transducing Animals Biomarkers Cell Line Cullin Proteins Gene Knock-In Techniques Genetic Predisposition to Disease Kidney Membrane Potentials Mice Transgenic Microfilament Proteins Mutation Oocytes Phenotype Potassium Potassium Channels Inwardly Rectifying Protein Processing Post-Translational Protein Serine-Threonine Kinases Pseudohypoaldosteronism Transfection Xenopus laevis
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
Mario Van Poucke, Kimberley Stee, Sofie FM Bhatti, An Vanhaesebrouck, Leslie Bosseler, Luc J Peelman, Luc Van Ham
Aug 08, 2019
SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound...
Oligodendrocyte-encoded Kir4.1 function is required for axonal integrity.
Lucas Schirmer, Wiebke Möbius, Chao Zhao, Andrés Cruz-Herranz, Lucile Ben Haim, Christian Cordano, Lawrence R Shiow, Kevin W Kelley, Boguslawa Sadowski, Garrett Timmons, Anne-Katrin Pröbstel, Jackie N Wright, Jung Hyung Sin, Michael Devereux, Daniel E Morrison, Sandra M Chang, Khalida Sabeur, Ari J Green, Klaus-Armin Nave, Robin Jm Franklin, David H Rowitch
Nov 19, 2018
Glial support is critical for normal axon function and can become dysregulated in white matter (WM) disease. In humans, loss-of-function mutations of KCNJ10, which encodes the inward-rectifying potassium channel KIR4.1, causes...
Diversity of KIR genes and their HLA-C ligands in Ugandan populations with historically varied malaria transmission intensity.
Stephen Tukwasibwe, James A Traherne, Olympe Chazara, Jyothi Jayaraman, John Trowsdale, Ashley Moffett, Wei Jiang, Joaniter I Nankabirwa, John Rek, Emmanuel Arinaitwe, Samuel L Nsobya, Maxine Atuheirwe, Mubiru Frank, Anguzu Godwin, Prasanna Jagannathan, Stephen Cose, Moses R Kamya, Grant Dorsey, Philip J Rosenthal, Francesco Colucci, Annettee Nakimuli
May 10, 2021
BACKGROUND: Malaria is one of the most serious infectious diseases in the world. The malaria burden is greatly affected by human immunity, and immune responses vary between populations. Genetic diversity in KIR and HLA-C genes...