Dent's disease (Q34243602)

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Language	Label	Description	Also known as
English	Dent's disease	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

10 references

7 March 2019

22 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

28 November 2019

15 December 2019

29 May 2020

6 November 2020

Dent's disease. (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

9 references

7 March 2019

22 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

28 November 2019

15 December 2019

6 November 2020

genetic variation

1 reference

14 September 2019

1 reference

28 September 2019

transport protein

1 reference

28 November 2019

membrane protein

1 reference

15 December 2019

1 reference

6 November 2020

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Olivier Devuyst

1

object named as

Olivier Devuyst

0 references

publication date

14 October 2010

10 references

Europe PubMed Central

PubMed publication ID

31 July 2017

7 March 2019

22 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

28 November 2019

15 December 2019

6 November 2020

Orphanet Journal of Rare Diseases

11 references

Europe PubMed Central

PubMed publication ID

31 July 2017

7 March 2019

22 April 2019

20 June 2019

30 June 2019

14 September 2019

28 September 2019

28 November 2019

15 December 2019

29 May 2020

6 November 2020

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

28

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

copyright license

Creative Commons Attribution 2.0 Generic

9 references

Europe PubMed Central

7 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

20 June 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

28 September 2019

Europe PubMed Central

28 November 2019

Europe PubMed Central

15 December 2019

Europe PubMed Central

6 November 2020

copyright status

0 references

on focus list of Wikimedia project

0 references

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Nephrolithiasis related to inborn metabolic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Genetics of hypercalciuric stone forming diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

The loss of the chloride channel, ClC-5, delays apical iodide efflux and induces a euthyroid goiter in the mouse thyroid gland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Structure and function of the Lowe syndrome protein OCRL1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Dent Disease with mutations in OCRL1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Hypertonicity increases CLC-5 expression in mouse medullary thick ascending limb cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

HYPERCALCURIC RICKETS ASSOCIATED WITH RENAL TUBULAR DAMAGE.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Cofilin interacts with ClC-5 and regulates albumin uptake in proximal tubule cell lines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Responsiveness of hypercalciuria to thiazide in Dent's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Megalin and cubilin: multifunctional endocytic receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

A common molecular basis for three inherited kidney stone diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

6 July 2018

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=2964617

6 July 2018

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=2964617

6 July 2018

Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

28 October 2018

Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

28 October 2018

Vitamin A responsive night blindness in Dent's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

28 October 2018

Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

28 October 2018

Impaired acidification in early endosomes of ClC-5 deficient proximal tubule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

28 October 2018

Tissue distribution and subcellular localization of the ClC-5 chloride channel in rat intestinal cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

28 October 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964617

28 October 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=2964617

28 October 2018

Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20946626

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypercalciuria in patients with CLCN5 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20946626

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20946626

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel renal carbonic anhydrase type III plays a role in proximal tubule dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/20946626

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-5-28

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

0 references

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