Results 41 to 50 of about 3,106 (169)
G3: Genes, Genomes, Genetics, 2017 Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed.
Nico Mauri +17 more
doaj +1 more source
Selective Deletion of NBCe1 in Reactive Astrocytes Attenuates Ischemic Stroke Brain Damage. [PDF]
GliaMain 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 ...
Capuk O +16 more
europepmc +2 more sources
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders. [PDF]
, 2014 Autism is a complex disease whose etiology remains elusive. We integrated previously and newly generated data and developed a systems framework involving the interactome, gene expression and genome sequencing to identify a protein interaction module with
Euskirchen, Ghia +8 more
core +1 more source
Cell Calcium, 2007 COS-1 cells with heterologeous expression of the Kir4.1 (KCNJ10) channel subunit, possess functional Kir4.1 channels and become capable to generating cytosolic Ca2+ transients, upon lowering of the extracellular K+ concentration to 2 mM or below. These Ca2+ transients are blocked by external Ba2+ (100 microM).
Haertel, Kai +5 more
openaire +3 more sources
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay [PDF]
Journal of Neurophysiology, 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. Targeted and whole exome sequencing revealed two heterozygous missense variants: a novel mutation in the KCNJ10 gene that encodes for the inward-rectifying K+ channel Kir4.1 and another previously
Sonia Hasan +11 more
openaire +2 more sources
Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]
, 2017 Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
core +1 more source
Regulation of Kir4.1 expression in astrocytes and astrocytic tumors: a role for interleukin-1 beta [PDF]
, 2012 Objective Decreased expression of inwardly rectifying potassium (Kir) channels in astrocytes and glioma cells may contribute to impaired K+ buffering and increased propensity for seizures. Here, we evaluated the potential effect of inflammatory molecules,
A Andersson +75 more
core +5 more sources
Intellectual Disability and Potassium Channelopathies: A Systematic Review
Frontiers in Genetics, 2020 Intellectual disability (ID) manifests prior to adulthood as severe limitations to intellectual function and adaptive behavior. The role of potassium channelopathies in ID is poorly understood.
Miriam Kessi +17 more
doaj +1 more source
Physiological Research, 2013 Heterologous expression of Kir channels offers a tool to modulate excitability of neurons which provide insight into Kir channel functions in general. Inwardly-rectifying K+ channels (Kir channels) are potential candidate proteins to hyperpolarize neuronal cell membranes.
Zschüntzsch, J. +4 more
openaire +4 more sources
Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus [PDF]
, 2019 The association of WW domain-containing oxidoreductase WWOX gene loss of function with central nervous system (CNS) related pathologies is well documented.
Abba, Martín Carlos +11 more
core +2 more sources