An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes (Q40834435)

24 September 2017

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An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes (English)

1 reference

24 September 2017

Maria Addis

1

1 reference

24 September 2017

Cristiana Meloni

2

1 reference

24 September 2017

Enrica Tosetto

3

1 reference

24 September 2017

Monica Ceol

4

1 reference

24 September 2017

Rosalba Cristofaro

5

1 reference

24 September 2017

Maria Antonietta Melis

6

1 reference

24 September 2017

Paolo Vercelloni

7

1 reference

24 September 2017

Dorella Del Prete

8

1 reference

24 September 2017

Giuseppina Marra

9

1 reference

24 September 2017

Franca Anglani

10

1 reference

24 September 2017

10 October 2012

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European Journal of Human Genetics

24 September 2017

1 reference

24 September 2017

21

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24 September 2017

6

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24 September 2017

687-690

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https://scigraph.springernature.com/pub.10.1038/ejhg.2012.225

24 September 2017

0 references

cites work

Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

OCRL1 mutations in patients with Dent disease phenotype in Japan

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

Structure and function of the Lowe syndrome protein OCRL1.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

Dent Disease with mutations in OCRL1

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

A common molecular basis for three inherited kidney stone diseases

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

Vitamin A responsive night blindness in Dent's disease.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

Growth hormone improves growth rate and preserves renal function in Dent disease.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

Renal manifestations of Dent disease and Lowe syndrome.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

OCRL mutation analysis in Italian patients with Lowe syndrome

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3658198

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

19 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.225

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease

21 January 2018

1 reference

12 December 2020

Signalling for secretion

1 reference

12 December 2020

Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis

1 reference

12 December 2020

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.225

1 reference

Dimensions Publication ID

24 September 2017

0 references

1 reference

24 September 2017

1 reference