Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia [PDF]
Frontiers in Cellular Neuroscience, 2015 Many encoded gene products responsible for neurodevelopmental disorders (NDs) like autism spectrum disorders (ASD), schizophrenia (SCZ), intellectual disability (ID), and idiopathic generalized epilepsy (IGE) converge on networks controlling synaptic ...
Nancy D Merner +7 more
doaj +5 more sources
Unveiling the therapeutic potential of IHMT-337 in glioma treatment: targeting the EZH2-SLC12A5 axis
Molecular MedicineGlioma is the most common malignant tumor of the central nervous system, with EZH2 playing a crucial regulatory role. This study further explores the abnormal expression of EZH2 and its mechanisms in regulating glioma progression.
Hongwei Zhang +6 more
doaj +3 more sources
BiomedicinesValproic acid (VPA) has anticancer, anti-inflammatory, and epigenetic effects. The study aimed to determine the expression of carcinogenesis-related SLC5A8, SLC12A2, SLC12A5, CDH1, and CDH2 in adult glioblastoma U87 MG and T98G cells and the effects of 0.
Milda Juknevičienė +6 more
doaj +4 more sources
PharmaceuticsThe search for an effective treatment for adult high-grade glioblastoma (GBM) remains urgent. Background/Objectives: The study aimed to determine the expression of carcinogenesis-related genes, such as SLC12A2, SLC12A5, CDH1, CDH2, EZH2, and GFAP, in ...
Dovydas Gečys +6 more
doaj +3 more sources
The unfolded protein response and its potential role in Huntington's disease elucidated by a systems biology approach [version 2; referees: 2 approved] [PDF]
F1000Research, 2016 Huntington ́s disease (HD) is a progressive, neurodegenerative disease with a fatal outcome. Although the disease-causing gene (huntingtin) has been known for over 20 years, the exact mechanisms leading to neuronal cell death are still controversial. One
Ravi Kiran Reddy Kalathur +5 more
doaj +5 more sources
A Pan-Cancer Analysis of SLC12A5 Reveals Its Correlations with Tumor Immunity [PDF]
Disease Markers, 2021 Background. Solute carrier family 12 member 5 (SLC12A5) has been reported to play an oncogenic role in certain malignancies. Its prognostic roles and immune mechanisms of action in human cancers, however, remain largely unknown. Methods. Data derived from TCGA, GEPIA, and TIMER databases were utilized to delve into the expressing patterns, prognostic ...
Yi Jiang, Hong-li Liao, Li-ya Chen
openaire +2 more sources
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation [PDF]
, 2014 Genetic variation in SLC12A5 which encodes KCC2, the neuron‐specific cation‐chloride cotransporter that is essential for hyperpolarizing GABAergic signaling and formation of cortical dendritic spines, has not been reported in human disease.
Ahmad, Faraz +14 more
core +2 more sources
Chromosomal localization of SLC12A5/Slc12a5, the human and mouse genes for the neuron-specific K+-Cl– cotransporter (KCC2) defines a new region of conserved homology [PDF]
Cytogenetic and Genome Research, 2003 K(+)-Cl(-) cotransporters (KCCs) constitute a branch of the cation-chloride cotransporter (CCC) family. To date, four KCC isoforms (KCC1-KCC4) have been identified and they all mediate obligatorily coupled, electroneutral transmembrane movement of K(+) and Cl(-) ions.
R, Sallinen +5 more
openaire +2 more sources
Increased expression of Solute carrier family 12 member 5 via gene amplification contributes to tumour progression and metastasis and associates with poor survival in colorectal cancer [PDF]
, 2016 published_or_final_versio
Cai, M +12 more
core +1 more source
FEBS Open Bio, 2021 Glioblastoma multiforme (GBM) is the most malignant primary tumour in the central nervous system, but the molecular mechanisms underlying its pathogenesis remain unclear.
Chun Li +6 more
doaj +1 more source