Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
about
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutationsClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cellsTherapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryProximal tubular phosphate reabsorption: molecular mechanismsCBS domains: structure, function, and pathology in human proteinsExpression, 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.The voltage-dependent Cl(-) channel ClC-5 and plasma membrane Cl(-) conductances of mouse renal collecting duct cells (mIMCD-3).Splice variants of a ClC-2 chloride channel with differing functional characteristics.Genome wide expression analysis of CBS domain containing proteins in Arabidopsis thaliana (L.) Heynh and Oryza sativa L. reveals their developmental and stress regulationCLC channels and transporters: proteins with borderline personalities.Hereditary causes of kidney stones and chronic kidney diseaseIn vivo role of CLC chloride channels in the kidney.Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.ClC-5 chloride channel and kidney stones: what is the link?Kidney-specific chloride channel, OmClC-K, predominantly expressed in the diluting segment of freshwater-adapted tilapia kidney.ATP induces conformational changes in the carboxyl-terminal region of ClC-5Chloride channels in the kidney: lessons learned from knockout animals.Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.Chloride channel diseases resulting from impaired transepithelial transport or vesicular functionRecent advances in understanding the clinical and genetic heterogeneity of Dent's disease.Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.CLC-0 and CFTR: chloride channels evolved from transporters.Dent's disease: clinical features and molecular basis.ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report.Structure and gating of CLC channels and exchangers.ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.Inward rectification in ClC-0 chloride channels caused by mutations in several protein regions.Clinical utility gene card for: Dent disease (Dent-1 and Dent-2).Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels.Phenotypic variability of Dent disease in a large New Zealand kindred.Coexpression of complementary fragments of ClC-5 and restoration of chloride channel function in a Dent's disease mutation.Urinary Calcium Excretion and Risk of Chronic Kidney Disease in the General Population.Phenotype of Dent Disease in a Cohort of Indian Children.Genetic Causes of Kidney Stones and Kidney Failure
P2860
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P2860
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
description
1997 nî lūn-bûn
@nan
1997 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի օգոստոսին 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
Characterisation of renal chlo ...... sis (kidney stones) disorders.
@ast
Characterisation of renal chlo ...... sis (kidney stones) disorders.
@en
Characterisation of renal chlo ...... sis (kidney stones) disorders.
@nl
type
label
Characterisation of renal chlo ...... sis (kidney stones) disorders.
@ast
Characterisation of renal chlo ...... sis (kidney stones) disorders.
@en
Characterisation of renal chlo ...... sis (kidney stones) disorders.
@nl
prefLabel
Characterisation of renal chlo ...... sis (kidney stones) disorders.
@ast
Characterisation of renal chlo ...... sis (kidney stones) disorders.
@en
Characterisation of renal chlo ...... sis (kidney stones) disorders.
@nl
P2093
P50
P356
P1476
Characterisation of renal chlo ...... asis (kidney stones) disorders
@en
P2093
M L Bianchi
S J Scheinman
P304
P356
10.1093/HMG/6.8.1233
P577
1997-08-01T00:00:00Z