Slc12a6 - Neonatal Disorders

Relevant Publications

A \"Knob Switch\" Model for the Phosphoregulatory Mechanism of KCC3 at the Carboxy-Terminal Domain.

Issue Release: 2025

A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenesis of the Corpus Callosum With Peripheral Neuropathy.

Issue Release: 2025

Protein binder toolbox for studies of solute carrier transporters.

Issue Release: 2024

The erythroid K-Cl cotransport inhibitor [(dihydroindenyl)oxy]acetic acid blocks erythroid Ca-activated K channel KCNN4.

Issue Release: 2022

Nicotinamide mononucleotide reduces melanin production in aged melanocytes by inhibiting cAMP/Wnt signaling.

Issue Release: 2022

Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.

Issue Release: 2022

Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA.

Issue Release: 2022

Late onset sensory-motor axonal neuropathy, a novel SLC12A6 related phenotype.

Issue Release: 2022

Erythroid-specific inactivation of Slc12a6/Kcc3 by EpoR promoter-driven Cre expression reduces K-Cl cotransport activity in mouse erythrocytes.

Issue Release: 2022

SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.

Issue Release: 2021

Identification of 3\'-UTR single nucleotide variants and prediction of select protein imbalance in mesial temporal lobe epilepsy patients.

Issue Release: 2021

Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.

Issue Release: 2020

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.

Issue Release: 2019

Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs.

Issue Release: 2019

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.

Issue Release: 2019

Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett\'s Esophagus.

Issue Release: 2018

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.

Issue Release: 2017

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.

Issue Release: 2016

Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.

Issue Release: 2016

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Issue Release: 2015

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