Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification
about
Regional early and progressive loss of brain pericytes but not vascular smooth muscle cells in adult mice with disrupted platelet-derived growth factor receptor-β signaling.Analysis of the brain mural cell transcriptome.Pathogenetic significance and possibility as a therapeutic target of platelet derived growth factor.Region-specific permeability of the blood-brain barrier upon pericyte loss.Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencingMicroangiopathy in primary familial brain calcification: Evidence from skin biopsies.Clinical and radiological diversity in genetically confirmed primary familial brain calcification.Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene.Alzheimer's disease: A matter of blood-brain barrier dysfunction?New Data from Pdfgb ret/ret Mutant Mice Might Lead to a Paradoxical Association Between Brain Calcification, Pericytes Recruitment and BBB Integrity.Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.Involvement of platelet-derived growth factor ligands and receptors in tumorigenesis.Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.Gastric poorly cohesive carcinoma: a correlative study of mutational signatures and prognostic significance based on histopathological subtypes.Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.New Studies on Knockout Mouse for the SLC20A2 Gene Show Much More Than Brain Calcifications.Overexpression of C‑sis inhibits H2O2‑induced Buffalo rat liver cell apoptosis in vitro and alleviates liver injury in a rat model of fulminant hepatic failure.Primary brain calcification: an international study reporting novel variants and associated phenotypes
P2860
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P2860
Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification
description
2015 nî lūn-bûn
@nan
2015 թուականին հրատարակուած գիտական յօդուած
@hyw
2015 թվականին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Functional Characterization of ...... y Familial Brain Calcification
@ast
Functional Characterization of ...... y Familial Brain Calcification
@en
Functional Characterization of ...... y Familial Brain Calcification
@nl
type
label
Functional Characterization of ...... y Familial Brain Calcification
@ast
Functional Characterization of ...... y Familial Brain Calcification
@en
Functional Characterization of ...... y Familial Brain Calcification
@nl
prefLabel
Functional Characterization of ...... y Familial Brain Calcification
@ast
Functional Characterization of ...... y Familial Brain Calcification
@en
Functional Characterization of ...... y Familial Brain Calcification
@nl
P2093
P2860
P50
P921
P3181
P1433
P1476
Functional Characterization of ...... y Familial Brain Calcification
@en
P2093
Andreas Boss
Carl-Henrik Heldin
David Kenkel
Johan Lennartsson
Khayrun Nahar
Maarja Andaloussi Mäe
Sara I Cunha
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0143407
P407
P577
2015-01-01T00:00:00Z