Dent Disease with mutations in OCRL1 (Q24530643)

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Language	Label	Description	Also known as
English	Dent Disease with mutations in OCRL1	scientific article

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instance of

scholarly article

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title

Dent Disease with mutations in OCRL1 (English)

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main subject

Dent disease

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based on heuristic

inferred from title

author

Robert L. Nussbaum

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11

object named as

Robert L Nussbaum

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author name string

Richard R Hoopes

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1

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Antony E Shrimpton

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2

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Stephen J Knohl

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3

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Paul Hueber

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4

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Bernd Hoppe

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5

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Janos Matyus

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6

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Ari Simckes

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7

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Velibor Tasic

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8

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Burkhard Toenshoff

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9

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Sharon F Suchy

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10

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Steven J Scheinman

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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

American Journal of Human Genetics

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volume

76

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issue

2

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page(s)

260-7

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cites work

A common molecular basis for three inherited kidney stone diseases

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stated in

PubMed Central

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24 March 2017

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

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PubMed Central

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24 March 2017

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

stated in

PubMed Central

reference URL

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

retrieved

24 March 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

24 March 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

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27 September 2017

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

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PubMed Central

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27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

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

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

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27 September 2017

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

1 reference

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PubMed Central

reference URL

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27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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30 May 2018

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

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PubMed Central

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30 May 2018

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

1 reference

stated in

PubMed Central

reference URL

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

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30 May 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

30 May 2018

Evidence for genetic heterogeneity in Dent's disease

1 reference

stated in

PubMed Central

reference URL

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

retrieved

29 November 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

stated in

PubMed Central

reference URL

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

retrieved

29 November 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

29 November 2018

Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome.

1 reference

stated in

PubMed Central

reference URL

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

retrieved

29 November 2018

X-linked recessive nephrolithiasis with renal failure

1 reference

stated in

PubMed Central

reference URL

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

retrieved

29 November 2018

Glomerular protein sieving and implications for renal failure in Fanconi syndrome

1 reference

stated in

PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/427887

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1039663

OpenCitations bibliographic resource ID

1039663

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1039663

PMC publication ID

1196371

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1039663

PubMed publication ID

15627218

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1039663

ResearchGate publication ID

8104174

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