A common molecular basis for three inherited kidney stone diseases
about
Identification of a novel member of the chloride intracellular channel gene family (CLIC5) that associates with the actin cytoskeleton of placental microvilliGATA3 haplo-insufficiency causes human HDR syndromeMutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type IIIAlternative splicing of ClC-6 (a member of the CIC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specificDent Disease with mutations in OCRL1Characterization of mutations in patients with multiple endocrine neoplasia type 1.Hereditary isolated renal magnesium loss maps to chromosome 11q23.Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)Chloride channels as drug targets.Exome sequencing reveals new causal mutations in children with epileptic encephalopathiesDiversity of Cl(-) channelsClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cellsThe renal channelopathiesThyroid iodide efflux: a team effort?Protein trafficking defects in inherited kidney diseasesCLIC4 regulates apical exocytosis and renal tube luminogenesis through retromer- and actin-mediated endocytic traffickingStructure of a eukaryotic CLC transporter defines an intermediate state in the transport cycleThe yeast CLC chloride channel functions in cation homeostasisInhibition of sodium/proton exchange by a Rab-GTPase-activating protein regulates endosomal traffic in yeast.Golgi localization and functionally important domains in the NH2 and COOH terminus of the yeast CLC putative chloride channel Gef1p.Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscleAnion transport in heartOntogeny of CLCN3 chloride channel gene expression in human pulmonary epitheliumFunctional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsiesChloride channels: an emerging molecular pictureMale germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruptionWhy oral calcium supplements may reduce renal stone disease: report of a clinical pilot studyIdentification of a novel chloride channel expressed in the endoplasmic reticulum, golgi apparatus, and nucleusDetection of ClC-3 and ClC-5 in epididymal epithelium: immunofluorescence and RT-PCR after LCMLoss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubulesExpression, purification, and initial structural characterization of YadQ, a bacterial homolog of mammalian ClC chloride channel proteins.Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.The voltage-dependent Cl(-) channel ClC-5 and plasma membrane Cl(-) conductances of mouse renal collecting duct cells (mIMCD-3).A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membraneCLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretionERRgamma regulates cardiac, gastric, and renal potassium homeostasis.Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China.
P2860
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P2860
A common molecular basis for three inherited kidney stone diseases
description
1996 nî lūn-bûn
@nan
1996 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A common molecular basis for three inherited kidney stone diseases
@ast
A common molecular basis for three inherited kidney stone diseases
@en
A common molecular basis for three inherited kidney stone diseases
@en-gb
A common molecular basis for three inherited kidney stone diseases
@nl
type
label
A common molecular basis for three inherited kidney stone diseases
@ast
A common molecular basis for three inherited kidney stone diseases
@en
A common molecular basis for three inherited kidney stone diseases
@en-gb
A common molecular basis for three inherited kidney stone diseases
@nl
prefLabel
A common molecular basis for three inherited kidney stone diseases
@ast
A common molecular basis for three inherited kidney stone diseases
@en
A common molecular basis for three inherited kidney stone diseases
@en-gb
A common molecular basis for three inherited kidney stone diseases
@nl
P2093
P356
P1433
P1476
A common molecular basis for three inherited kidney stone diseases
@en
P2093
K Steinmeyer
R V Thakker
S E Fisher
S H Pearce
P2888
P356
10.1038/379445A0
P407
P577
1996-02-01T00:00:00Z
P6179
1012692443