Results 61 to 70 of about 4,015 (188)

Heterozygous KCNJ10 variants affecting Kir4.1 channel cause paroxysmal kinesigenic dyskinesia

, 2023
Abstract Background Paroxysmal kinesigenic dyskinesia is the representative form of paroxysmal dyskinesia, and its mechanism is unclear. Although paroxysmal kinesigenic dyskinesia is mostly attributed to genetic factors, more than 60% of paroxysmal kinesigenic dyskinesia cases are of uncertain mutations.
Xiaojun Huang, Xin Fu, Jingying Wu, Xiaoqi Hong, Ziyi Li, Lan Zheng, Qing Liu, Shendi Chen, Beisha Tang, Yuwu Zhao, Xiaorong Liu, Xunhua Li, Xiaoli Liu, Zaiwei Zhou, Li Wu, Kan Fang, Ping Zhong, Mei Zhang, Xinghua Luan, Wotu Tian, Xiaoping Tong, Li Cao   +21 more
openaire   +1 more source

A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

Journal of Veterinary Internal Medicine, 2014
Background Juvenile‐onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years.
D. Gilliam, D.P. O'Brien, J.R. Coates, G.S. Johnson, G.C. Johnson, T. Mhlanga‐Mutangadura, L. Hansen, J.F. Taylor, R.D. Schnabel   +8 more
doaj   +1 more source

Molecular basis of hearing loss associated with enlarged vestibular aqueduct

Journal of Bio-X Research, 2019
. Enlarged vestibular aqueduct (EVA) is a radiologic malformation of the inner ear most commonly seen in children with sensorineural hearing loss. Most cases of EVA with hearing loss are caused by biallelic mutations of SLC26A4.
Xiaoyu Yu, Hao Wu, Tao Yang
doaj   +1 more source

DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model

Molecular Therapy: Methods & Clinical Development, 2020
The His723Arg (H723R) mutation in SLC26A4, encoding pendrin, is the most prevalent mutation in East Asia, resulting in DFNB4, an autosomal recessive type of genetic hearing loss.
Hye Ji Choi, Hyun Jae Lee, Jin Young Choi, Ik Hyun Jeon, Byunghwa Noh, Sushil Devkota, Han-Woong Lee, Seong Kug Eo, Jae Young Choi, Min Goo Lee, Jinsei Jung   +10 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.
D’Adamo, Maria Cristina, Imbrici, Paola, Martino, Dianda, Moro, Francesca, Pessia, Mauro, Roscini, Mauro, Santorelli, Filippo Maria, Sicca, Federico   +7 more
core  

Mapping Satellite Glial Cell Heterogeneity Reveals Distinct Spatial Organization and Implies Functional Diversity in the Dorsal Root Ganglion

Advanced Science, Volume 13, Issue 1, 5 January 2026.
Four distinct satellite glial cell subtypes are identified in mouse dorsal root ganglia using single‐cell RNA sequencing and spatial validation. These subtypes show unique marker profiles and anatomical distributions. Human dorsal root ganglia display layered perisomatic organization with differential marker expression.
Ole Andreas Ahlgreen, Mads Würgler Hansen, Jonas Baake, Thomas Engelbrecht Hybel, Rachele Rossi, Xin Lai, Ishwarya Sankaranarayanan, Johanne Amalie Pold, Lin Lin, Line Reinert, Søren Riis Paludan, Theodore John Price, Lone Tjener Pallesen, Christian Bjerggaard Vægter   +13 more
wiley   +1 more source

Disruption of KCNJ10 (Kir4.1) stimulates the expression of ENaC in the collecting duct [PDF]

American Journal of Physiology-Renal Physiology, 2016
Kcnj10 encodes the inwardly rectifying K+channel 4.1 (Kir4.1) and is expressed in the basolateral membrane of late thick ascending limb, distal convoluted tubule (DCT), connecting tubule (CNT), and cortical collecting duct (CCD). In the present study, we perform experiments in postneonatal day 9 Kcnj10−/−or wild-type mice to examine the role of Kir.4.1
Xiao-Tong, Su, Chengbiao, Zhang, Lijun, Wang, Ruimin, Gu, Dao-Hong, Lin, Wen-Hui, Wang   +5 more
openaire   +2 more sources

Effects of AQP4 and KCNJ10 Gene Polymorphisms on Drug Resistance and Seizure Susceptibility in Chinese Han Patients with Focal Epilepsy

Neuropsychiatric Disease and Treatment, 2020
Haoyue Zhu, Mengqi Zhang, Yujiao Fu, Hongyu Long, Wenbiao Xiao, Li Feng, Bo Xiao, Luo Zhou Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People’s Republic of ChinaCorrespondence: Luo ZhouDepartment of ...
Zhu H, Zhang M, Fu Y, Long H, Xiao W, Feng L, Xiao B, Zhou L   +7 more
doaj  

Idiopathic epilepsy of childhood and potassium ion channels [PDF]

, 2007
Potassium can affect the development of common seizure type and can be defined seizure susceptibility allele. The existence of inward-rectifying potassium (Kir) channels was first recognized half a century ago. The biophysical fingerprint of Kir channels
Dai, Alper I, Wasay, Mohammad
core   +1 more source

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism. [PDF]

PLoS ONE, 2013
Congenital hyperinsulinism of infancy (CHI) is a rare disorder characterized by severe hypoglycemia due to inappropriate insulin secretion. The genetic causes of CHI have been found in genes regulating insulin secretion from pancreatic β-cells; recessive
Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli, Rosanna Asselta, Paola Sogno Valin, Stefania Di Candia, Ilaria Zamproni, Cecilia Diceglie, Stefano Mora, Manuela Caruso-Nicoletti, Alessandro Salvatoni, Gianluca De Bellis, Cristina Battaglia   +14 more
doaj   +1 more source