Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
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Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.Primary brain calcification in patients undergoing treatment with the biphosphanate alendronate.Vitamin-D receptor agonist calcitriol reduces calcification in vitro through selective upregulation of SLC20A2 but not SLC20A1 or XPR1.Hypophosphatemia promotes lower rates of muscle ATP synthesis.Brain calcifications and PCDH12 variants.Pericytes of the neurovascular unit: key functions and signaling pathways.Brain Calcification and Movement Disorders.Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2.SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification.Elimination of huntingtin in the adult mouse leads to progressive behavioral deficits, bilateral thalamic calcification, and altered brain iron homeostasis.Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells.Clinical and radiological diversity in genetically confirmed primary familial brain calcification.Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.PiT2 regulates neuronal outgrowth through interaction with microtubule-associated protein 1B.Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.MiR-9-5p Down-Regulates PiT2, but not PiT1 in Human Embryonic Kidney 293 Cells.Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications.Extensive bilateral striopallidodentate calcinosis: a 50 years history of hypoparathyroidism presenting like a parkinsonian syndrome.XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders.Fahr Syndrome - an Important Piece of a Puzzle in the Differential Diagnosis of Many Diseases.Primary brain calcification: an international study reporting novel variants and associated phenotypes
P2860
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P2860
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
description
2015 nî lūn-bûn
@nan
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
2015年论文
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2015年论文
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name
Update and Mutational Analysis ...... Familial Brain Calcification.
@en
type
label
Update and Mutational Analysis ...... Familial Brain Calcification.
@en
prefLabel
Update and Mutational Analysis ...... Familial Brain Calcification.
@en
P2093
P50
P356
P1433
P1476
Update and Mutational Analysis ...... y Familial Brain Calcification
@en
P2093
Dominique Campion
Eliana M Ramos
Emma M Jenkinson
Giovanni Coppola
John H Livingston
João R M Oliveira
Roberta R Lemos
P304
P356
10.1002/HUMU.22778
P577
2015-04-06T00:00:00Z