Results 61 to 70 of about 1,208,260 (137)
Annals of Clinical and Translational Neurology, Volume 12, Issue 12, Page 2558-2568, December 2025.ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu +5 more
wiley +1 more source
Clinical and Translational Medicine, Volume 15, Issue 12, December 2025.We established a robust predictive model for nasopharyngeal carcinoma (NPC) distant metastasis using RNA markers. When combined with clinical parameters, our RNA‐based risk score significantly improved the area under the curve to 90.4%. This study revealed that tertiary lymphoid structure formation may be associated with lower NPC metastasis risk after
Zhaozheng Hou +16 more
wiley +1 more source
Selective Deletion of NBCe1 in Reactive Astrocytes Attenuates Ischemic Stroke Brain Damage
Glia, Volume 73, Issue 12, Page 2386-2406, December 2025.Main Points NBCe1 is upregulated in reactive astrocytes following ischemic stroke. Deletion of astrocytic Nboe1 reduces stroke volume, preserves AQP4 polarization, reduces BBB permeability, and improves neurological function after ischemic stroke. ABSTRACT The electrogenic sodium bicarbonate transporter 1 (NBCe1/Slc4a4), predominantly expressed in ...
Okan Capuk +16 more
wiley +1 more source
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome
, 2011 Non-technical summary Light stimulates ion flow through the retina. This generates a potential change at the cornea which is recorded as an electroretinogram (ERG).
Zdebik, Anselm A. +29 more
core +1 more source
Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome [PDF]
, 2009 Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most common type of autosomal-recessive syndromic deafness.
Yang, Tao +6 more
core +1 more source
, 2017 A 2-yr-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia, and tonic-clonic seizures that caused the death of the patient.
Lara Macchioni +23 more
core +1 more source
, 2014 BackgroundNonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4.
Jiandong Zhao +17 more
core +1 more source
Positions and location of KCNJ10 all tagSNPs.
, 2015 SNP locations are based on a comprehensive study of all tagSNPs across the entire KCNJ10 gene regions that was conducted with HapMap data and the Haploview software.SNP, single-nucleotide polymorphism.Positions and location of KCNJ10 all tagSNPs.
Tao Song (130854) +9 more
core +1 more source
Journal of Biological ResearchKir4.1/KCNJ10 is an inwardly rectifying potassium channel highly expressed in intermediate cells of the cochlear stria vascularis, where it plays a pivotal role in potassium ion recycling [1]. By sustaining endolymph high potassium concentration (~150 mM)
Società Italiana di Biologia Sperimentale
doaj
Understanding the key drivers of and technology related issues associated with going multi-channel [PDF]
, 2012 A multi-channel retail strategy is viewed by many academics and practitioners to be the success model for most retailers. Yet, while there are many drivers of, and advantages related to, using multiple channels to sell products and services to customers ...
Whysall, P +5 more
core