Hypercalciuria in patients with CLCN5 mutations (Q79811377)

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26 December 2019

title

Hypercalciuria in patients with CLCN5 mutations (English)

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26 December 2019

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26 December 2019

author name string

Michael Ludwig

1

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26 December 2019

Bernd Balluch

3

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26 December 2019

Stefan Fründ

4

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26 December 2019

Eberhard Kuwertz-Bröking

5

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26 December 2019

Arend Bökenkamp

6

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26 December 2019

publication date

29 June 2006

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26 December 2019

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26 December 2019

volume

21

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26 December 2019

issue

9

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26 December 2019

page(s)

1241-1250

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High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease

26 December 2019

cites work

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12 December 2020

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria

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12 December 2020

A common molecular basis for three inherited kidney stone diseases

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12 December 2020

Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells.

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12 December 2020

Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease

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12 December 2020

K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification

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12 December 2020

A second family with XLRH displays the mutation S244L in the CLCN5 gene

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12 December 2020

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease

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12 December 2020

The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover

1 reference

12 December 2020

Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins

1 reference

12 December 2020

Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.

1 reference

12 December 2020

A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene

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12 December 2020

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease

1 reference

12 December 2020

Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant

1 reference

12 December 2020

Renal Chloride Channel, CLCN5, Mutations in Dent's Disease

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12 December 2020

Role of ClC-5 in the pathogenesis of hypercalciuria: recent insights from transgenic mouse models.

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12 December 2020

CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets

1 reference

12 December 2020

The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease.

1 reference

12 December 2020

Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells.

1 reference

12 December 2020

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis

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12 December 2020

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization

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12 December 2020

Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria

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12 December 2020

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease

1 reference

12 December 2020

Responsiveness of hypercalciuria to thiazide in Dent's disease

1 reference

12 December 2020

Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance.

1 reference

12 December 2020

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

1 reference

12 December 2020

Evidence for genetic heterogeneity in Dent's disease

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12 December 2020

Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells

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12 December 2020

Dent Disease with mutations in OCRL1

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12 December 2020

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

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12 December 2020

Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria

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12 December 2020

Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.

1 reference

12 December 2020

A boy with Japanese Dent's disease exhibiting abnormal calcium metabolism and osseous disorder of the spine: defective megalin expression at the brushborder of renal proximal tubules

1 reference

12 December 2020

Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5.

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12 December 2020

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis

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12 December 2020

Clinical features of X-linked nephrolithiasis in childhood

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12 December 2020

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease

1 reference

12 December 2020

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

1 reference

12 December 2020

Diet-dependent hypercalciuria in transgenic mice with reduced CLC5 chloride channel expression.

1 reference

12 December 2020

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

1 reference

12 December 2020

X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations

1 reference

12 December 2020

Urinary stone formation: Dent's disease moves understanding forward.

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12 December 2020

HYPERCALCURIC RICKETS ASSOCIATED WITH RENAL TUBULAR DAMAGE.

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12 December 2020

Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom?

1 reference

12 December 2020

Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents.

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12 December 2020

Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene

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12 December 2020

Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state.

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12 December 2020

Phenotype and genotype of Dent's disease in three Korean boys

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12 December 2020

Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).

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12 December 2020

Adhesion, internalization and metabolism of calcium oxalate monohydrate crystals by renal epithelial cells

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12 December 2020

ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.

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12 December 2020

CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis

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12 December 2020

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

1 reference

12 December 2020

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease

1 reference

12 December 2020