Results 31 to 40 of about 1,208,260 (137)

Developmental expression and localization of KCNJ10 K+ channels in the guinea pig inner ear

, 2006
The inward rectifier Kir4.1, composed of KCNJ10 K channel subunits, plays an essential role in inner ear K homeostasis. We have investigated the developmental expression and localization of KCNJ10 (Kir4.1) in the guinea pig inner ear using semi ...
Wei, D, Jin, Zhe, Järlebark, Leif, Wei, Dongguang, Jin, Z, Järlebark, L   +5 more
core   +1 more source

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

Frontiers in Physiology, 2015
Episodic ataxia type 1 (EA1) is an autosomal dominant K+ channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia.
Maria Cristina D'Adamo, Maria Cristina D'Adamo, Constanze eGallenmueller, Constanze eGallenmueller, Constanze eGallenmueller, Ilenio eServettini, Elisabeth eHartl, Stephen eTucker, Larissa eArning, Saskia eBiskup, Alessandro eGrottesi, Luca eGuglielmi, Paola eImbrici, Pia eBernasconi, Giuseppe eDi Giovanni, Giuseppe eDi Giovanni, Fabio eFranciolini, Luigi eCatacuzzeno, Mauro ePessia, Mauro ePessia, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock   +23 more
doaj   +1 more source

The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsy [PDF]

, 2011
Autism is a complex behavioral disorder that develops prior to age three years and is distinguished by high heritability. Many genes predisposing to autism spectrum disorders (ASDs) have been identified.
Roscini, Mauro, Santorelli, Filippo Maria, Imbrici, Paola, Pessia, Mauro, Moro, Francesca, Martino, Dianda, D’Adamo, Maria Cristina, Sicca, Federico   +7 more
core  

Src Family Protein Tyrosine Kinase Regulates the Basolateral K Channel in the Distal Convoluted Tubule (DCT) by Phosphorylation of KCNJ10 Protein

, 2013
The loss of function of the basolateral K channels in the distal nephron causes electrolyte imbalance. The aim of this study is to examine the role of Src family protein tyrosine kinase (SFK) in regulating K channels in the basolateral membrane of the ...
Thomas, Sherin, Zhang, Chengbiao, Wang, Wen-Hui, Wang, Lijun, Wang, Kemeng, Lin, Dao-Hong, Rinehart, Jesse   +6 more
core   +1 more source

Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

PLoS ONE, 2016
The goals are to understand the primary genetic mechanisms that cause Sick Sinus Syndrome and to identify potential modifiers that may result in intrafamilial variability within a multigenerational family.
Michael V Zaragoza, Lianna Fung, Ember Jensen, Frances Oh, Katherine Cung, Linda A McCarthy, Christine K Tran, Van Hoang, Simin A Hakim, Anna Grosberg   +9 more
doaj   +1 more source

Frozen in Place: Proximity Labeling Maps Glial Interactomes Across Cell States

Glia, Volume 74, Issue 10, October 2026.
Proximity labeling enables cell‐type‐specific and spatially resolved mapping of glial protein networks. Proximity labeling approaches provide insights into glial function under physiological and pathological conditions. ABSTRACT Glial cells, including radial glia, oligodendrocyte precursor cells (OPCs), oligodendrocytes, astrocytes, and microglia, are ...
João Baltar, Rebecca Abati, Luísa Florido, Matthew G. Holt   +3 more
wiley   +1 more source

Expressional analysis of the astrocytic Kir4.1 channel in a pilocarpine-induced temporal lobe epilepsy model

Frontiers in Cellular Neuroscience, 2013
The inwardly-rectifying potassium (Kir) channel Kir4.1 in brain astrocytes mediates spatial K+ buffering and regulates neural activities. Recent studies have shown that loss-of-function mutations in the human gene KCNJ10 encoding Kir4.1 cause epileptic ...
Yuki eNagao, Yuya eHarada, Takahiro eMukai, Saki eShimizu, Aoi eOkuda, Megumi eFujimoto, Asuka eOno, Yoshihisa eSakagami, Yukihiro eOhno   +8 more
doaj   +1 more source

Orthodontic force induces nerve injury-like transcriptomic changes driven by TRPV1-expressing afferents in mouse trigeminal ganglia

Molecular Pain, 2020
Orthodontic force produces mechanical irritation and localized inflammation in the periodontium, which causes pain in most patients. Nocifensive behaviors resulting from orthodontic force in mice can be substantially attenuated by intraganglionic ...
Sheng Wang, Man-Kyo Chung
doaj   +1 more source

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

Journal of Clinical Laboratory Analysis, Volume 40, Issue 18, September 2026.
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi, Mona Entezam, Seyed Alireza Dastgheib   +4 more
wiley   +1 more source

Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.

, 2005
Recent genetic linkage studies have identified an association between missense variations in the gene encoding the Kir4.1 potassium channel (KCNJ10) and seizure susceptibility phenotypes in both humans and mice. The results of this study demonstrate that
Tucker, Stephen, Lucchese, CJ, Tucker, SJ, Haider, S, Shang, Lijun, Shang, L   +5 more
core   +1 more source