Dent Disease with mutations in OCRL1 (Q24530643)

1

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Antony E Shrimpton

2

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Stephen J Knohl

3

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Paul Hueber

4

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Bernd Hoppe

5

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Janos Matyus

6

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Ari Simckes

7

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Velibor Tasic

8

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Burkhard Toenshoff

9

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Sharon F Suchy

10

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Steven J Scheinman

American Journal of Human Genetics

12

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language of work or name

English

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publication date

February 2005

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published in

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volume

76

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page(s)

260-7

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issue

2

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cites work

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

24 March 2017

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

24 March 2017

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Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

24 March 2017

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Arf GAPs: multifunctional proteins that regulate membrane traffic and actin remodelling

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The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization

27 September 2017

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Endocytic traffic in polarized epithelial cells: role of the actin and microtubule cytoskeleton

27 September 2017

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Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells

27 September 2017

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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.

27 September 2017

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PCR amplification of specific alleles: rapid detection of known mutations and polymorphisms.

27 September 2017

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The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

27 September 2017

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Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.

27 September 2017

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Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31.

30 May 2018

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

30 May 2018

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Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

30 May 2018

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Evidence for genetic heterogeneity in Dent's disease.

30 May 2018

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

29 November 2018

1 reference

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196371

Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome.

29 November 2018

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X-linked recessive nephrolithiasis with renal failure

29 November 2018

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Glomerular protein sieving and implications for renal failure in Fanconi syndrome

29 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/15627218

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15627218

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/427887

1 reference

1039663

1039663

1 reference

1 reference

1 reference