Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

A role for KCC3 in maintaining cell volume of peripheral nerve fibers

(2018) Bianca Flores et al.   NEUROCHEMISTRY INTERNATIONAL

Short template switch events explain mutation clusters in the human genome

(2017) Ari Löytynoja et al.   GENOME RESEARCH

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

(2017) Melissa Bowerman et al.   NEUROBIOLOGY OF DISEASE

Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier

(2016) Alana Christina Gast et al.   BMC Veterinary Research

The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs

(2016) Mario Van Poucke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system

(2016) Roland N Auer et al.   MODERN PATHOLOGY

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

(2016) Kristopher T. Kahle et al.   Science Signaling

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

(2016) Kristopher T. Kahle et al.   Science Signaling

A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever

(2015) Mario Van Poucke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

K-Cl cotransporters, cell volume homeostasis, and neurological disease

(2015) Kristopher T. Kahle et al.   TRENDS IN MOLECULAR MEDICINE

Improved canine exome designs, featuring ncRNAs and increased coverage of protein coding genes

(2015) Bart J.G. Broeckx et al.   Scientific Reports

Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum

(2014) Jinlong Ding et al.   BEHAVIOURAL BRAIN RESEARCH

The kinship2 R Package for Pedigree Data

(2014) Jason P. Sinnwell et al.   HUMAN HEREDITY

A HomozygousKCNJ10Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

(2014) D. Gilliam et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Genes and Genetic Testing in Hereditary Ataxias

(2014) Erin Sandford et al.   Genes

Protter: interactive protein feature visualization and integration with experimental proteomic data

(2013) Ulrich Omasits et al.   BIOINFORMATICS

Potassium-Chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics

(2013) Adèle Salin-Cantegrel et al.   PLoS One

Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome

(2012) Charles M. Lourenço et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

(2011) Adèle Salin-Cantegrel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Myokymia and neuromyotonia in 37 Jack Russell terriers

(2010) Sofie F. Bhatti et al.   VETERINARY JOURNAL

Andermann Syndrome can be a Phenocopy of Hereditary Motor and Sensory Neuropathy – Report of a Discordant Sibship with a Compound Heterozygous Mutation of theKCC3Gene

(2009) S. Rudnik-Schöneborn et al.   NEUROPEDIATRICS

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl− co-transporter 3

(2008) Adèle Salin-Cantegrel et al.   HUMAN MOLECULAR GENETICS