Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export (Q30397541)

11 August 2017

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export (English)

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11 August 2017

cerebral calcification

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1

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10 June 2020

Gael Nicolas

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10 June 2020

Uriel López-Sánchez

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Renee L. Sears

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10 June 2020

Ángel Carracedo

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10 June 2020

Anthony Lang

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Martin Paucar

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Francois Boller

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Marc Sitbon

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Jean-Luc Battini

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Giovanni Coppola

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10 June 2020

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Dominique Campion

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10 June 2020

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Daniel H Geschwind

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10 June 2020

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Joanna C Jen

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10 June 2020

author name string

Donatella Giovannini

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Beatriz Quintáns

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10 June 2020

João R M Oliveira

6

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10 June 2020

Eliana Marisa Ramos

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Elizabeth Spiteri

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María-Jesús Sobrido

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Cristina Castro-Fernández

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Stéphanie Cubizolle

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Brent L Fogel

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10 June 2020

Cyril Goizet

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Suppachok Kirdlarp

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Zosia Miedzybrodzka

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Witoon Mitarnun

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Henry Paulson

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Jérémie Pariente

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Anne-Claire Richard

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Naomi S Salins

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Sheila A Simpson

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Per Svenningsson

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François Tison

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10 June 2020

Vivek K Unni

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Olivier Vanakker

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Michele Yang

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10 June 2020

Pasquale Striano

27

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Didier Hannequin

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10 June 2020

language of work or name

English

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publication date

4 May 2015

1 reference

11 August 2017

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10 June 2020

volume

47

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10 June 2020

issue

6

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10 June 2020

page(s)

579-581

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Expression of the mammalian Xenotropic Polytropic Virus Receptor 1 (XPR1) in tobacco leaves leads to phosphate export.

10 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and 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=4516721

Inorganic phosphate export by the retrovirus receptor XPR1 in metazoans

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Optimization of tumor xenograft dissociation for the profiling of cell surface markers and nutrient transporters.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

The draft genome of a diploid cotton Gossypium raimondii

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

The role of intracellular calcium phosphate in osteoblast-mediated bone apatite formation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

The emerging importance of the SPX domain-containing proteins in phosphate homeostasis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Phosphate homeostasis in the yeast Saccharomyces cerevisiae, the key role of the SPX domain-containing proteins.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

C-terminal di-leucine motif of dopamine D₁ receptor plays an important role in its plasma membrane trafficking

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Xpr1 is an atypical G-protein-coupled receptor that mediates xenotropic and polytropic murine retrovirus neurotoxicity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Regional characterization of energy metabolism in the brain of normal and MPTP-intoxicated mice using new markers of glucose and phosphate transport

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

MutationTaster evaluates disease-causing potential of sequence alterations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

A method and server for predicting damaging missense mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Distribution and intensity of constraint in mammalian genomic sequence

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Residues in the murine leukemia virus capsid that differentially govern resistance to mouse Fv1 and human Ref1 restrictions.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Predicting deleterious amino acid substitutions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

A human cell-surface receptor for xenotropic and polytropic murine leukemia viruses: possible role in G protein-coupled signal transduction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Cloning and characterization of a cell surface receptor for xenotropic and polytropic murine leukemia viruses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Identification and characterization of a widely expressed phosphate transporter/retrovirus receptor family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Cloning of the cellular receptor for amphotropic murine retroviruses reveals homology to that for gibbon ape leukemia virus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Improved retroviral vectors for gene transfer and expression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Familial idiopathic cerebral calcifications

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

Stimulation of Na-dependent phosphate transport by platelet-derived growth factor in rat aortic smooth muscle cells

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4516721

26 November 2018

Identifiers

DOI

10.1038/NG.3289

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10 June 2020

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10 June 2020

1 reference

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