Genetic Screening and Functional Characterization ofPDGFRBMutations Associated with Basal Ganglia Calcification of Unknown Etiology
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Title
Genetic Screening and Functional Characterization ofPDGFRBMutations Associated with Basal Ganglia Calcification of Unknown Etiology
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 35, Issue 8, Pages 964-971
Publisher
Wiley
Online
2014-05-06
DOI
10.1002/humu.22582
References
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Related references
Note: Only part of the references are listed.- Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan
- (2014) M. Yamada et al. NEUROLOGY
- Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
- (2013) John A. Martignetti et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Sodium-Dependent Phosphate Cotransporters and Phosphate-Induced Calcification of Vascular Smooth Muscle Cells
- (2013) Matthew H. Crouthamel et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Localization of type-III sodium-dependent phosphate transporter 2 in the mouse brain
- (2013) Masatoshi Inden et al. BRAIN RESEARCH
- Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification
- (2013) R. R. Lemos et al. EUROPEAN JOURNAL OF NEUROLOGY
- A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion
- (2013) Kensaku Kasuga et al. JOURNAL OF NEUROLOGY
- Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
- (2013) Annika Keller et al. NATURE GENETICS
- Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
- (2013) Sandy Chan Hsu et al. NEUROGENETICS
- Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification
- (2013) Yang Zhang et al. PLoS One
- Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
- (2012) Cheng Wang et al. NATURE GENETICS
- Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
- (2012) G. Nicolas et al. NEUROLOGY
- Erk 5 is necessary for sustained PDGF-induced Akt phosphorylation and inhibition of apoptosis
- (2010) Johan Lennartsson et al. CELLULAR SIGNALLING
- Pericytes regulate the blood–brain barrier
- (2010) Annika Armulik et al. NATURE
- The emerging role of phosphate in vascular calcification
- (2009) Cecilia M. Giachelli KIDNEY INTERNATIONAL
- Role of platelet-derived growth factors in physiology and medicine
- (2008) J. Andrae et al. GENES & DEVELOPMENT
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