NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

Item
http://www.wikidata.org/entity/Q28204997
Q28161467
sameAs
Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's diseaseA protein (ORF2) encoded by the latency-related gene of bovine herpesvirus 1 interacts with Notch1 and Notch3Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.Single gene disorders causing ischaemic stroke.Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo.APOE and AGT in the Finnish p.Arg133Cys CADASIL population.Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.Differences in proliferation rate between CADASIL and control vascular smooth muscle cells are related to increased TGFβ expression.Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
P2860

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

Item
http://www.wikidata.org/entity/Q28204997
description
2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@ast
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@en
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@nl
type
label
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@ast
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@en
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@nl
prefLabel
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@ast
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@en
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@nl
P1433
P1476
P2093
P304
P31
P3181
P356
P407
P433
P478
P577
P698
P3181
P356
P1433
P1476
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
@en
P2093
P304
P31
P3181
P356
P407
P433
P478
P577
P698