Results 21 to 30 of about 4,015 (188)

Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds [PDF]

Animal Genetics, Volume 56, Issue 5, October 2025.
Abstract New Zealand (NZ) Huntaway and Heading dogs are working breeds that play active roles on farms across NZ. While these breeds are common in NZ, they are not well‐known elsewhere, and little is understood about their genetic make‐up. Here, we used whole genome sequencing to provide a comprehensive genomic view of 249 working dogs. As first use of
Florence Smith, Thomas Lopdell, Melissa Stephen, Millicent Henry, Keren Dittmer, Hayley Hunt, Nick Sneddon, Liam Williams, Jack Rolfe, Dorian Garrick, Mathew D. Littlejohn   +10 more
wiley   +2 more sources

Satellite glial GPR37L1 and its ligand maresin 1 regulate potassium channel signaling and pain homeostasis [PDF]

The Journal of Clinical Investigation
G protein–coupled receptor 37-like 1 (GPR37L1) is an orphan GPCR with largely unknown functions. Here, we report that Gpr37l1/GRP37L1 ranks among the most highly expressed GPCR transcripts in mouse and human dorsal root ganglia (DRGs) and is selectively ...
Sangsu Bang, Changyu Jiang, Jing Xu, Sharat Chandra, Aidan McGinnis, Xin Luo, Qianru He, Yize Li, Zilong Wang, Xiang Ao, Marc Parisien, Lorenna Oliveira Fernandes de Araujo, Sahel Jahangiri Esfahani, Qin Zhang, Raquel Tonello, Temugin Berta, Luda Diatchenko, Ru-Rong Ji   +17 more
doaj   +2 more sources

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model [PDF]

BMC Medicine, 2004
Background Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin.
Wall Susan M, Everett Lorraine A, Ho Lee Jun, Maganti Rajanikanth J, Jabba Sairam V, Wu Tao, Albrecht Beatrice, Itza Erin M, Wangemann Philine, Royaux Ines E, Green Eric D, Marcus Daniel C   +11 more
doaj   +4 more sources

Bioinformatic analysis of missense SNPs in the KCNJ10 gene associated with neurological disorders

Egyptian Journal of Medical Human Genetics
Background Neurological disorders demonstrate significant heterogeneity influenced by genetic factors such as single-nucleotide polymorphisms (SNPs). The KCNJ10 gene plays an essential role in potassium ion homeostasis in various cell types, especially ...
Tamer Gür, Ömer Faruk Karasakal, Mesut Karahan   +2 more
doaj   +2 more sources

Characteristics of extracellular vesicle-derived lncRNAs during the progression of HBV-related hepatocellular carcinoma [PDF]

BMC Cancer
Liver diseases, including hepatitis B virus (HBV) infection, cirrhosis, and hepatocellular carcinoma (HCC), represent significant global health challenges with limited non-invasive biomarkers for early detection.
Yanan Ma, Cheng Lou, Jing liang, Chunyue Guo, Jinjuan Zhang, Chengjun Lu, Jiandong Zhang, Yingtang Gao   +7 more
doaj   +2 more sources

Juvenile Dystonia Associated with Heterozygous Missense Variant in KCNJ10 [PDF]

Movement Disorders
Claudio M. de de Gusmao, Sara C.B. Casagrande, Matheus A. Castro, André Pessoa, Cleonisio Leite Rodrigues, Laura Silveira Moriyama, Fernando Kok, Paulo Ribeiro Nóbrega   +7 more
openaire   +3 more sources

KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16 [PDF]

Nephron Physiology, 2013
<b><i>Background/Aims:</i></b> Mutations in the inwardly-rectifying K⁺-channel KCNJ10/Kir4.1 cause autosomal recessive EAST syndrome (epilepsy, ataxia, sensorineural deafness and tubulopathy). KCNJ10 is expressed in the distal convoluted tubule of the kidney, stria vascularis of the inner ear and brain ...
Parrock, Sophie, Hussain, Sofia, Issler, Naomi, Differ, Ann-Marie, Lench, Nicholas, Guarino, Stefano, Oosterveld, Michiel J. S., Keijzer-Veen, Mandy, Brilstra, Eva, van Wieringen, Hester, Konijnenberg, A. Yvette, Amin-Rasip, Sarah, Dumitriu, Simona, Klootwijk, Enriko, Knoers, Nine, Bockenhauer, Detlef, Kleta, Robert, Zdebik, Anselm A.   +17 more
openaire   +3 more sources

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations [PDF]

New England Journal of Medicine, 2009
Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis. We investigated the genetic basis of this autosomal recessive disease, which we call the EAST syndrome (the presence of ...
Detlef, Bockenhauer, Sally, Feather, Horia C, Stanescu, Sascha, Bandulik, Anselm A, Zdebik, Markus, Reichold, Jonathan, Tobin, Evelyn, Lieberer, Christina, Sterner, Guida, Landoure, Ruchi, Arora, Tony, Sirimanna, Dorothy, Thompson, J Helen, Cross, William, van't Hoff, Omar, Al Masri, Kjell, Tullus, Stella, Yeung, Yair, Anikster, Enriko, Klootwijk, Mike, Hubank, Michael J, Dillon, Dirk, Heitzmann, Mauricio, Arcos-Burgos, Mark A, Knepper, Angus, Dobbie, William A, Gahl, Richard, Warth, Eamonn, Sheridan, Robert, Kleta   +29 more
openaire   +3 more sources

Molecular Mechanisms of EAST/SeSAME Syndrome Mutations in Kir4.1 (KCNJ10) [PDF]

Journal of Biological Chemistry, 2010
Inwardly rectifying potassium channel Kir4.1 is critical for glial function, control of neuronal excitability, and systemic K(+) homeostasis. Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by mental retardation, ataxia, seizures, hearing loss, and renal salt waste.
Monica, Sala-Rabanal, Lilia Y, Kucheryavykh, Serguei N, Skatchkov, Misty J, Eaton, Colin G, Nichols   +4 more
openaire   +2 more sources

Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]

, 2015
Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina, de Groot, John CMJ, Frijns, Johan HM, Huisman, Margriet A, Locher, Heiko, van Iperen, Liesbeth   +5 more
core   +2 more sources