Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction (Q30487102)

16 August 2017

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction (English)

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16 August 2017

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4

Elena Levtchenko

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16 August 2017

Detlef Bockenhauer

1

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16 August 2017

Arend Bokenkamp

2

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16 August 2017

William van't Hoff

3

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16 August 2017

Joana E Kist-van Holthe

5

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16 August 2017

Velibor Tasic

6

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16 August 2017

Michael Ludwig

7

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16 August 2017

14 May 2008

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Clinical Journal of the American Society of Nephrology

16 August 2017

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16 August 2017

3

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16 August 2017

5

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16 August 2017

1430-1436

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

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

The renal Na /phosphate cotransporter NaPi-IIa is internalized via the receptor-mediated endocytic route in response to parathyroid hormone

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Dent Disease with mutations in OCRL1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Cubilin is an albumin binding protein important for renal tubular albumin reabsorption

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Evidence for an essential role of megalin in transepithelial transport of retinol

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Renal threshold phosphate concentration (TmPO4/GFR)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Oculo-cerebro-renal syndrome. A review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Urinary excretion of calcium and magnesium in children

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Asymptomatic low molecular weight proteinuria: qualitative urinary protein analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Lysosomal enzymuria is a feature of hereditary Fanconi syndrome and is related to elevated CI-mannose-6-P-receptor excretion

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Renal manifestations of Dent disease and Lowe syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Early proximal tubular dysfunction in Lowe's syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518783

[Lowe syndrome, study of tubular function]

26 November 2018

1 reference

12 December 2020

Hypercalciuria in patients with CLCN5 mutations

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12 December 2020

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases

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12 December 2020

The epithelial Na( )/H( ) exchanger, NHE3, is internalized through a clathrin-mediated pathway

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12 December 2020

Identifiers

DOI

10.2215/CJN.00520108

1 reference

16 August 2017

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16 August 2017

PubMed publication ID

18480301

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