(Q82216059)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031565%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

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

1 reference

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15 January 2020

1 reference

4

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15 January 2020

Anne Blanchard

8

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15 January 2020

Véronique Satre

13

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15 January 2020

author name string

Haifa Hichri

1

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15 January 2020

John Rendu

2

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15 January 2020

Nicole Monnier

3

1 reference

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15 January 2020

Olivier Dorseuil

5

1 reference

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15 January 2020

Rosa Vargas Poussou

6

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15 January 2020

Geneviève Baujat

7

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15 January 2020

François Nobili

9

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15 January 2020

Bruno Ranchin

10

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15 January 2020

Michel Remesy

11

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15 January 2020

Rémi Salomon

12

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15 January 2020

Joel Lunardi

14

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15 January 2020

publication date

10 March 2011

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15 January 2020

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15 January 2020

volume

32

1 reference

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15 January 2020

issue

4

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15 January 2020

page(s)

379-388

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OCRL mutation analysis in Italian patients with Lowe syndrome

15 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Dent-2 disease: a mild variant of Lowe syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

HYPERCALCURIC RICKETS ASSOCIATED WITH RENAL TUBULAR DAMAGE.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Unusual renal features of Lowe syndrome in a mildly affected boy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Evidence for genetic heterogeneity in Dent's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Dent Disease with mutations in OCRL1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Oculocerebrorenal syndrome of Lowe: Three mutations in theOCRL1 gene derived from three patients with different phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

A common molecular basis for three inherited kidney stone diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21391

1 reference

7 January 2021

Structure and function of the Lowe syndrome protein OCRL1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Human RhoGAP domain-containing proteins: structure, function and evolutionary relationships

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

MRI and proton spectroscopy in Lowe syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

The mammalian unfolded protein response

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Mutations in OCRL1 gene in Indian children with Lowe syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

OCRL1 mutations in patients with Dent disease phenotype in Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Specificity determinants in phosphoinositide dephosphorylation: crystal structure of an archetypal inositol polyphosphate 5-phosphatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

The inositol polyphosphate 5-phosphatases and the apurinic/apyrimidinic base excision repair endonucleases share a common mechanism for catalysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21391

7 January 2021

Identifiers

DOI

10.1002/HUMU.21391

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21031565%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference