Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations (Q36062946)

11 August 2017

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations (English)

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11 August 2017

1 reference

1 reference

Franca Anglani

1

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11 August 2017

Angela D'Angelo

2

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11 August 2017

Luisa Maria Bertizzolo

3

1 reference

11 August 2017

Enrica Tosetto

4

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11 August 2017

Monica Ceol

5

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11 August 2017

Daniela Cremasco

6

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11 August 2017

Luciana Bonfante

7

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11 August 2017

Maria Antonietta Addis

8

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11 August 2017

Dorella Del Prete

9

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11 August 2017

Dent Disease Italian Network

10

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11 August 2017

language of work or name

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15 September 2015

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11 August 2017

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11 August 2017

4

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11 August 2017

492

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Creative Commons Attribution 4.0 International

11 August 2017

start time

15 September 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

The cellular and physiological functions of the Lowe syndrome protein OCRL1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Hereditary causes of kidney stones and chronic kidney disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

When to suspect a genetic disorder in a patient with renal stones, and why.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Dent’s disease: clinical features and molecular basis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Dent-2 disease: a mild variant of Lowe syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Dent Disease with mutations in OCRL1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Calcium transport in the kidney

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

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.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Family history may be misleading in the diagnosis of Dent's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Evidence for genetic heterogeneity in Dent's disease

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

X-linked recessive nephrolithiasis with renal failure

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4571032

Phenotypic and genetic heterogeneity in Dent's disease—the results of an Italian collaborative study

21 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/S40064-015-1294-Y

Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26389017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26389017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26389017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S40064-015-1294-Y

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

26389017

1 reference