(Q33934157)

30 July 2017

title

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

1 reference

basal ganglia calcification

30 July 2017

main subject

1 reference

8

1 reference

30 July 2017

Monica Sanchez-Contreras

object named as

Monica Sanchez-Contreras

1

0 references

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

1 reference

30 July 2017

NiCole A Finch

3

1 reference

30 July 2017

Alexandra Nicholson

4

1 reference

30 July 2017

Aleksandra Wojtas

5

1 reference

30 July 2017

language of work or name

1 reference

3 June 2014

1 reference

30 July 2017

1 reference

30 July 2017

volume

35

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30 July 2017

issue

8

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30 July 2017

page(s)

964-971

1 reference

describes a project that uses

30 July 2017

ImageJ

1 reference

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