Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology (Q33934157)

30 July 2017

Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology (English)

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basal ganglia calcification

30 July 2017

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8

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30 July 2017

Monica Sanchez-Contreras

object named as

Monica Sanchez-Contreras

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Zbigniew K Wszolek

6

object named as

Zbigniew K Wszolek

1 reference

30 July 2017

9

Rosa Rademakers

1 reference

30 July 2017

7

Owen A Ross

1 reference

30 July 2017

Matthew C Baker

2

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30 July 2017

NiCole A Finch

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30 July 2017

Alexandra Nicholson

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30 July 2017

Aleksandra Wojtas

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30 July 2017

language of work or name

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3 June 2014

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30 July 2017

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35

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30 July 2017

964-971

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describes a project that uses

30 July 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4107018/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Sodium-dependent phosphate cotransporters and phosphate-induced calcification of vascular smooth muscle cells: redundant roles for PiT-1 and PiT-2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Localization of type-III sodium-dependent phosphate transporter 2 in the mouse brain.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Pericytes regulate the blood-brain barrier

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

The emerging role of phosphate in vascular calcification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Role of platelet-derived growth factors in physiology and medicine

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Autosomal dominant dystonia-plus with cerebral calcifications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Severe vascular disturbance in a case of familial brain calcinosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Additive effects of PDGF receptor beta signaling pathways in vascular smooth muscle cell development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

The SLC20 family of proteins: dual functions as sodium-phosphate cotransporters and viral receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Lack of pericytes leads to endothelial hyperplasia and abnormal vascular morphogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Phosphate regulation of vascular smooth muscle cell calcification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Up-regulation of the Pit-2 phosphate transporter/retrovirus receptor by protein kinase C epsilon

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Signal transduction via platelet-derived growth factor receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Pericyte loss and microaneurysm formation in PDGF-B-deficient mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

The protein kinase encoded by the Akt proto-oncogene is a target of the PDGF-activated phosphatidylinositol 3-kinase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Idiopathic nonarteriosclerotic cerebral calcification (Fahr's disease): an electron microscopic study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Processing of the platelet-derived growth factor receptor. Biosynthetic and degradation studies using anti-receptor antibodies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Distinct phosphotyrosines on a growth factor receptor bind to specific molecules that mediate different signaling pathways

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22582

A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22582

Erk 5 is necessary for sustained PDGF-induced Akt phosphorylation and inhibition of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22582

Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22582

PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4107018

Transduction of mitogenic activity of platelet-derived growth factor (PDGF) AB by PDGF-beta receptor without participation of PDGF-alpha receptor in vascular smooth muscle cells

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24796542

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24796542

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22582

1 reference

30 July 2017

1 reference

30 July 2017

1 reference