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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 7 of 7

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Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.
Flores B, Delpire E
(2021) Am J Physiol Cell Physiol 320: C722-C730
MeSH Terms: Age Factors, Agenesis of Corpus Callosum, Animals, Behavior, Animal, Disease Models, Animal, Female, Ganglia, Spinal, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Genetic Therapy, Male, Mice, Inbred C57BL, Mice, Knockout, Motor Activity, Parvalbumins, Peripheral Nervous System Diseases, Phenotype, Postural Balance, Rotarod Performance Test, Symporters
Added February 26, 2021
1 Communities
0 Members
0 Resources
20 MeSH Terms
variants in cause sporadic early-onset progressive sensorimotor neuropathy.
Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB
(2020) J Med Genet 57: 283-288
MeSH Terms: Adolescent, Age of Onset, Agenesis of Corpus Callosum, Charcot-Marie-Tooth Disease, Child, Female, Genotype, Hereditary Sensory and Autonomic Neuropathies, Humans, Infant, Magnetic Resonance Imaging, Male, Mutation, Pedigree, Peripheral Nervous System Diseases, Phenotype, Symporters
Added March 18, 2020
0 Communities
1 Members
0 Resources
17 MeSH Terms
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.
Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F
(2017) Neurobiol Dis 106: 35-48
MeSH Terms: Agenesis of Corpus Callosum, Animals, Carbamazepine, Cells, Cultured, Chlorides, Disease Models, Animal, Mice, Inbred C57BL, Mice, Transgenic, Motor Neurons, Neuromuscular Junction, Neurotransmitter Agents, Peripheral Nervous System Diseases, Presynaptic Terminals, Sodium-Potassium-Exchanging ATPase, Spinal Cord, Symporters, Synaptic Transmission
Added April 3, 2018
0 Communities
1 Members
0 Resources
17 MeSH Terms
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.
Ding J, Delpire E
(2014) Behav Brain Res 274: 128-36
MeSH Terms: Agenesis of Corpus Callosum, Analysis of Variance, Animals, Disease Models, Animal, Exploratory Behavior, Ganglia, Spinal, Mice, Mice, Transgenic, Motor Activity, Movement Disorders, Neurons, Parvalbumins, Peripheral Nervous System Diseases, Phosphopyruvate Hydratase, Psychomotor Performance, Reaction Time, Spinal Cord, Symporters
Added November 25, 2014
1 Communities
0 Members
0 Resources
18 MeSH Terms
Altered functional and structural connectivity in a schizophrenia patient with complete agenesis of the corpus callosum.
Rane S, Kose S, Gore JC, Heckers S
(2013) Am J Psychiatry 170: 122-3
MeSH Terms: Adult, Agenesis of Corpus Callosum, Brain, Brain Mapping, Caudate Nucleus, Diffusion Magnetic Resonance Imaging, Dominance, Cerebral, Hippocampus, Humans, Image Interpretation, Computer-Assisted, Imaging, Three-Dimensional, Incidental Findings, Magnetic Resonance Imaging, Male, Nerve Fibers, Nerve Net, Oxygen, Parietal Lobe, Reference Values, Schizophrenia, Schizophrenic Psychology, Visual Cortex
Added August 21, 2014
0 Communities
2 Members
0 Resources
22 MeSH Terms
Prenatal alcohol exposure and interhemispheric transfer of tactile information: Detroit and Cape Town findings.
Dodge NC, Jacobson JL, Molteno CD, Meintjes EM, Bangalore S, Diwadkar V, Hoyme EH, Robinson LK, Khaole N, Avison MJ, Jacobson SW
(2009) Alcohol Clin Exp Res 33: 1628-37
MeSH Terms: Abnormalities, Drug-Induced, Adult, Agenesis of Corpus Callosum, Central Nervous System Depressants, Child, Cohort Studies, Corpus Callosum, Ethanol, Female, Fingers, Functional Laterality, Humans, Magnetic Resonance Imaging, Male, Maternal Age, Michigan, Neural Pathways, Pregnancy, Prenatal Exposure Delayed Effects, Psychomotor Performance, South Africa, Touch
Added February 12, 2015
0 Communities
1 Members
0 Resources
22 MeSH Terms
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
(2002) Nat Genet 32: 384-92
MeSH Terms: Agenesis of Corpus Callosum, Animals, Blotting, Southern, Brain, Canada, Chromosomes, Human, Pair 15, Corpus Callosum, Exons, Gene Deletion, Genes, Recessive, Haplotypes, Homozygote, Humans, Immunoblotting, Mice, Mice, Knockout, Microscopy, Fluorescence, Models, Genetic, Molecular Sequence Data, Mutation, Open Reading Frames, Peripheral Nervous System Diseases, Phenotype, Polymorphism, Genetic, Recombination, Genetic, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Sodium-Potassium-Chloride Symporters, Spinal Cord, Symporters, Time Factors, Xenopus
Added August 13, 2010
1 Communities
0 Members
0 Resources
32 MeSH Terms