(Q24561788)

English

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

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scholarly article

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

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author name string

S E Lloyd

1

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S H Pearce

2

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W Günther

3

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H Kawaguchi

4

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T Igarashi

5

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T J Jentsch

6

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R V Thakker

7

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language of work or name

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publication date

1 March 1997

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Journal of Clinical Investigation

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99

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967-74

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5

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Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

1 reference

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24 March 2017

A common molecular basis for three inherited kidney stone diseases

1 reference

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24 March 2017

ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

24 March 2017

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)

1 reference

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24 March 2017

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

24 March 2017

Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

24 March 2017

A chloride channel widely expressed in epithelial and non-epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

24 March 2017

Heteromultimeric CLC chloride channels with novel properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

27 September 2017

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

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The rapid detection of unknown mutations in nucleic acids.

1 reference

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27 September 2017

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

1 reference

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27 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

27 September 2017

Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

27 September 2017

Properties of voltage-gated chloride channels of the ClC gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

27 September 2017

Cellular calcium transport in renal epithelia: measurement, mechanisms, and regulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

27 September 2017

Hypercalciuria in clinical pediatrics. A review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

27 September 2017

Structural and functional features of protein handling in the kidney proximal tubule.

1 reference

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27 September 2017

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes

1 reference

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27 September 2017

On the mechanism of parathyroid hormone stimulation of calcium uptake by mouse distal convoluted tubule cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

27 September 2017

Asymptomatic low molecular weight proteinuria: a report on 5 cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

30 May 2018

Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

30 May 2018

The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: a survey of 53 patients

1 reference

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30 May 2018

Idiopathic hypercalciuria in children: prevalence and metabolic characteristics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

30 May 2018

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets

1 reference

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28 November 2018

Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion.

1 reference

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28 November 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

28 November 2018

Idiopathic hypercalciuria. Renal and absorptive subtypes in children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

28 November 2018

X-linked recessive nephrolithiasis with renal failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507905

28 November 2018

Calcitonin stimulates calcium transport in distal convoluted tubule cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9062355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulindependent diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9062355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crystal-clear chloride channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/9062355

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI119262

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