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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 10 of 146

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Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination.
Omer S, Jin SC, Koumangoye R, Robert SM, Duran D, Nelson-Williams C, Huttner A, DiLuna M, Kahle KT, Delpire E
(2021) Clin Genet 100: 176-186
MeSH Terms: Animals, Child, Epilepsy, Female, Humans, Male, Mice, Inbred C57BL, Mice, Mutant Strains, Myelin Sheath, Oocytes, Peripheral Nervous System Diseases, Potassium, Protein Kinase C, Rotarod Performance Test, Seizures, Symporters, Xenopus laevis
Added April 30, 2021
1 Communities
0 Members
0 Resources
17 MeSH Terms
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
Osmotic Response of Dorsal Root Ganglion Neurons Expressing Wild-Type and Mutant KCC3 Transporters.
Flores B, Delpire E
(2020) Cell Physiol Biochem 54: 577-590
MeSH Terms: Animals, Axons, Cell Size, Corpus Callosum, Disease Models, Animal, Gain of Function Mutation, Ganglia, Spinal, Hereditary Sensory and Autonomic Neuropathies, Homeostasis, Humans, Membrane Transport Proteins, Mice, Mice, Knockout, Neurons, Osmotic Pressure, Symporters
Added June 30, 2020
1 Communities
0 Members
0 Resources
16 MeSH Terms
Loss of non-canonical KCC2 functions promotes developmental apoptosis of cortical projection neurons.
Mavrovic M, Uvarov P, Delpire E, Vutskits L, Kaila K, Puskarjov M
(2020) EMBO Rep 21: e48880
MeSH Terms: Apoptosis, Chlorides, Epilepsy, Humans, Neurons, Symporters
Added March 18, 2020
0 Communities
1 Members
0 Resources
6 MeSH Terms
Interpreting an apoptotic corpse as anti-inflammatory involves a chloride sensing pathway.
Perry JSA, Morioka S, Medina CB, Iker Etchegaray J, Barron B, Raymond MH, Lucas CD, Onengut-Gumuscu S, Delpire E, Ravichandran KS
(2019) Nat Cell Biol 21: 1532-1543
MeSH Terms: Animals, Apoptosis, Biological Transport, Cell Line, Cell Line, Tumor, Chlorides, Humans, Inflammation, Jurkat Cells, Mice, Mice, Inbred C57BL, Oxidative Stress, Phagocytes, Phagocytosis, Signal Transduction, Sodium-Potassium-Chloride Symporters, Transcription, Genetic
Added March 18, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Cryo-EM structures of NKCC1 and hKCC1: a new milestone in the physiology of cation-chloride cotransporters.
Delpire E, Guo J
(2020) Am J Physiol Cell Physiol 318: C225-C237
MeSH Terms: Amino Acid Sequence, Animals, Cations, Chlorides, Cryoelectron Microscopy, Humans, Solute Carrier Family 12, Member 2, Symporters
Added March 18, 2020
0 Communities
1 Members
0 Resources
8 MeSH Terms
Cryo-EM structures of the human cation-chloride cotransporter KCC1.
Liu S, Chang S, Han B, Xu L, Zhang M, Zhao C, Yang W, Wang F, Li J, Delpire E, Ye S, Bai XC, Guo J
(2019) Science 366: 505-508
MeSH Terms: Amino Acid Sequence, Animals, Binding Sites, Cryoelectron Microscopy, HEK293 Cells, Humans, Ion Transport, Mice, Molecular Dynamics Simulation, Oocytes, Protein Domains, Protein Multimerization, Protein Structure, Quaternary, Sequence Alignment, Sodium-Potassium-Chloride Symporters, Symporters, Xenopus laevis
Added March 18, 2020
0 Communities
1 Members
0 Resources
17 MeSH Terms
Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival.
Watanabe M, Zhang J, Mansuri MS, Duan J, Karimy JK, Delpire E, Alper SL, Lifton RP, Fukuda A, Kahle KT
(2019) Sci Signal 12:
MeSH Terms: Animals, Animals, Newborn, Binding Sites, Cells, Cultured, Central Nervous System, Chlorides, Gene Expression Regulation, Developmental, Male, Mice, 129 Strain, Mice, Inbred C57BL, Mice, Knockout, Neurons, Phosphorylation, Signal Transduction, Symporters, gamma-Aminobutyric Acid
Added March 18, 2020
0 Communities
1 Members
0 Resources
16 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
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.
Jin SC, Furey CG, Zeng X, Allocco A, Nelson-Williams C, Dong W, Karimy JK, Wang K, Ma S, Delpire E, Kahle KT
(2019) Mol Genet Genomic Med 7: e892
MeSH Terms: Animals, Cerebral Aqueduct, Genetic Diseases, X-Linked, Humans, Hydrocephalus, Male, Mutation, Neural Cell Adhesion Molecule L1, Symporters, Whole Exome Sequencing, Xenopus laevis
Added March 18, 2020
0 Communities
1 Members
0 Resources
11 MeSH Terms