Results 101 to 110 of about 4,015 (188)

Gestational and early postnatal hypothyroidism alters VGluTi and VGAT bouton distribution in the neocortex and hippocampus, and behavior in rats [PDF]

open access: yes, 2015
The Supplementary Material for this article can be found online at: http://www.frontiersin.org/journal/10.3389/fnana. 2015.00009/abstractThyroid hormones are fundamental for the expression of genes involved in the development of the CNS and their ...
Daniela eNavarro   +7 more
core   +3 more sources

The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness [PDF]

open access: yes, 2015
Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study.
Azadegan-Dehkordi, Fatemeh.   +5 more
core  

Multidimensional Genetic Analysis of Repeated Seizures in the Hybrid Mouse Diversity Panel Reveals a Novel Epileptogenesis Susceptibility Locus

open access: yesG3: Genes, Genomes, Genetics, 2017
Epilepsy has many causes and comorbidities affecting as many as 4% of people in their lifetime. Both idiopathic and symptomatic epilepsies are highly heritable, but genetic factors are difficult to characterize among humans due to complex disease ...
Russell J. Ferland   +9 more
doaj   +1 more source

Çocukluk çağı epilepsilerinde KCNJ10 gen polimorfizmlerin rolü

open access: yes, 2020
Objective: We aimed to investigate whether there is any relation between epilepsy types and intractable epilepsy with KCNJ10 gene polymorphisms in childhood epilepsy. Investigations of functions of polymorphisms in these genes can provide valuable information for further studies about diagnosis, treatment, pathogenesis of childhood epilepsy and may ...
openaire   +1 more source

Ablation of Kcnj10 expression in retinal explants revealed pivotal roles for Kcnj10 in the proliferation and development of Müller glia.

open access: yesMolecular vision, 2015
We previously found that Kcnj10, an inwardly-rectifying potassium channel, is a gene expressed in c-kit-positive retinal progenitor cells on P1. The shRNA-mediated screening of the functions of the genes for retinal development in retinal explant culture suggested a role for Kcnj10 in the differentiation of 23Müller glia.
Eisuke, Arai   +6 more
openaire   +1 more source

A comprehensive analysis of gene expression profiles in distal parts of the mouse renal tubule [PDF]

open access: yes, 2018
The distal parts of the renal tubule play a critical role in maintaining homeostasis of extracellular fluids. In this review, we present an in-depth analysis of microarray-based gene expression profiles available for microdissected mouse distal nephron ...
Bonny, Olivier   +4 more
core  

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.

open access: yesPLoS 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   +9 more
doaj   +1 more source

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

open access: yesFrontiers 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   +8 more
doaj   +1 more source

Caractérisation des canaux potassiques du tubule contourné proximal et des propriétés régulatrices des canaux chlorure de la membrane basolatérale des cellules intercalaires du tubule connecteur [PDF]

open access: yes, 2015
A 10 pS chloride channel at the basolateral side of connecting duct intercalated cells shares properties with the cloned ClC-K2 channel. Patch-clamp experiments show that its activity and the number of active channels increase with (i) membrane ...
Pinelli, Laurent
core   +2 more sources

Anatomic correlates of strial presbycusis in recombinant inbred mouse strains [PDF]

open access: yes, 2010
This project attempts to identify anatomic features that predict the range of the ‘normal’ endocochlear potential in young inbred mice. Cochlear lateral wall histologic metrics were compared in recombinant inbred (RI) mouse strains formed from BALB/c and
Walkonis, Christina M
core   +1 more source

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