The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum
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NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporterK-Cl cotransporters, cell volume homeostasis, and neurological diseasePhysiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockoutsMolecular and evolutionary insights into the structural organization of cation chloride cotransportersPathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman diseaseA trafficking-deficient mutant of KCC3 reveals dominant-negative effects on K-Cl cotransport functionGenetic deletion of Lsamp causes exaggerated behavioral activation in novel environmentsCation chloride cotransporters interact with the stress-related kinases Ste20-related proline-alanine-rich kinase (SPAK) and oxidative stress response 1 (OSR1)Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics.Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosumSexually dimorphic expression of KCC2 and GABA function.Neurological channelopathies.Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.Motor protein-dependent membrane trafficking of KCl cotransporter-4 is important for cancer cell invasionChemical crosslinking studies with the mouse Kcc1 K-Cl cotransporterClinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Mutations affecting GABAergic signaling in seizures and epilepsy.Differences in the large extracellular loop between the K(+)-Cl(-) cotransporters KCC2 and KCC4.The emerging role of KCl cotransport in tumor biology.Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishFunctional genomics of membrane transporters in human populations.A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationA C-terminal domain in KCC2 confers constitutive K+-Cl- cotransport.WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio)The WNKs: atypical protein kinases with pleiotropic actions.Pharmacotherapeutic targeting of cation-chloride cotransporters in neonatal seizuresCation-chloride cotransporters in neuronal development, plasticity and diseaseAltered GABA signaling in early life epilepsies.A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline DefectsDisruption of erythroid K-Cl cotransporters alters erythrocyte volume and partially rescues erythrocyte dehydration in SAD mice.Molecular physiology of SPAK and OSR1: two Ste20-related protein kinases regulating ion transport.Ablation of Potassium-Chloride Cotransporter Type 3 (Kcc3) in Mouse Causes Multiple Cardiovascular Defects and Isosmotic PolyuriaMolecular and functional expression of cation-chloride cotransporters in dorsal root ganglion neurons during postnatal maturationAxonal and periaxonal swelling precede peripheral neurodegeneration in KCC3 knockout mice.Signal transduction mechanisms of K+-Cl- cotransport regulation and relationship to disease.Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.Molecular and physiological bases of the K+ circulation in the mammalian inner ear.A deletion mutation in Slc12a6 is associated with neuromuscular disease in gaxp mice.GABA(A) receptors in normal development and seizures: friends or foes?Molecular evidence for a role for K(+)-Cl(-) cotransporters in the kidney.
P2860
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P2860
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@ast
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@en
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@nl
type
label
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@ast
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@en
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@nl
prefLabel
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@ast
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@en
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
The K-Cl cotransporter KCC3 is ...... genesis of the corpus callosum
@en
P2093
Adriana Mercado
Alessandro Simonati
Alfred L George
Beate Lemcke
Claude Prévost
Daniel Rochefort
David B Mount
Eric Delpire
Frank Q Zhan
Heidi C Howard
P2860
P2888
P304
P3181
P356
10.1038/NG1002
P407
P50
P577
2002-11-01T00:00:00Z
P5875
P6179
1033680191