(Q28251050)

Gian Marco Ghiggeri

10

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Enrica Tosetto

1

Enrica Tosetto

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Gianluca Vergine

6

Gianluca Vergine

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Gilda Stringini

7

Gilda Stringini

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Giancarlo Barbano

9

Giancarlo Barbano

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Nunzia Miglietti

12

Nunzia Miglietti

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Franca Anglani

15

Franca Anglani

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Francesco Emma

5

Francesco Emma

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author name string

Maria Addis

2

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Cristiana Meloni

4

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Teresa Papalia

8

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Laura Ruggeri

11

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Angela D Angelo

13

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Maria Antonietta Melis

https://scigraph.springernature.com/pub.10.1007/s00467-009-1228-4

14

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language of work or name

English

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publication date

October 2009

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published in

Pediatric Nephrology

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volume

24

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issue

10

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page(s)

1967-73

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exact match

0 references

cites work

X-linked recessive nephrolithiasis with renal failure

1 reference

12 December 2020

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

1 reference

12 December 2020

A common molecular basis for three inherited kidney stone diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Human non-synonymous SNPs: server and survey

1 reference

12 December 2020

Essential role for collectrin in renal amino acid transport

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Renal manifestations of Dent disease and Lowe syndrome.

1 reference

12 December 2020

Collectrin and the kidney

1 reference

12 December 2020

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

1 reference

12 December 2020

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

1 reference

12 December 2020

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

12 December 2020

Evidence for genetic heterogeneity in Dent's disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Dent Disease with mutations in OCRL1

1 reference

12 December 2020

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin

1 reference

12 December 2020

OCRL1 mutations in patients with Dent disease phenotype in Japan

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

SIFT: Predicting amino acid changes that affect protein function

1 reference

12 December 2020

MRI and proton spectroscopy in Lowe syndrome

1 reference

12 December 2020

OCRL mutation analysis in Italian patients with Lowe syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020