Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function
about
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndromeK(+)-dependent gating of K(ir)1.1 channels is linked to pH gating through a conformational change in the poreAbsence of small conductance K+ channel (SK) activity in apical membranes of thick ascending limb and cortical collecting duct in ROMK (Bartter's) knockout miceA hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels.The pathophysiological and molecular basis of Bartter's and Gitelman's syndromes.Molecular diversity and regulation of renal potassium channels.Gating of inward-rectifier K+ channels by intracellular pH.The glycolytic enzymes glyceraldehyde 3-phosphate dehydrogenase and enolase interact with the renal epithelial K+ channel ROMK2 and regulate its function.The inwardly rectifying K+ channel KIR7.1 controls uterine excitability throughout pregnancyPharmacotyping of hypokalaemic salt-losing tubular disorders.Endocytic trafficking of CFTR in health and disease.A mutation linked with Bartter's syndrome locks Kir 1.1a (ROMK1) channels in a closed stateRegulation of transport in the connecting tubule and cortical collecting ductMaintaining K+ balance on the low-Na+, high-K+ diet.pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndromeDiverse Kir modulators act in close proximity to residues implicated in phosphoinositide binding.Endocytosis as a mechanism for tyrosine kinase-dependent suppression of a voltage-gated potassium channel.Paradoxical hypertension and salt wasting in Type II Bartter syndromeContribution of cytosolic cysteine residues to the gating properties of the Kir2.1 inward rectifier.The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24.Expression of GIRK (Kir3.1/Kir3.4) channels in mouse fibroblast cells with and without beta1 integrins.Evidence for a functional interaction between integrins and G protein-activated inward rectifier K+ channels.Molecular mechanism of a COOH-terminal gating determinant in the ROMK channel revealed by a Bartter's disease mutation.Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.
P2860
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P2860
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in the ROMK gene in ...... h impaired K+ channel function
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Mutations in the ROMK gene in ...... h impaired K+ channel function
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Mutations in the ROMK gene in ...... h impaired K+ channel function
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Mutations in the ROMK gene in ...... h impaired K+ channel function
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Mutations in the ROMK gene in ...... h impaired K+ channel function
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Mutations in the ROMK gene in ...... h impaired K+ channel function
@en
Mutations in the ROMK gene in ...... h impaired K+ channel function
@en-gb
Mutations in the ROMK gene in ...... h impaired K+ channel function
@nl
prefLabel
Mutations in the ROMK gene in ...... h impaired K+ channel function
@ast
Mutations in the ROMK gene in ...... h impaired K+ channel function
@en
Mutations in the ROMK gene in ...... h impaired K+ channel function
@en-gb
Mutations in the ROMK gene in ...... h impaired K+ channel function
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P2093
P356
P1476
Mutations in the ROMK gene in ...... h impaired K+ channel function
@en
P2093
A Karschin
A Köckerling
G Deschenes
H W Seyberth
P356
10.1006/BBRC.1996.6024
P407
P577
1997-01-23T00:00:00Z