COL4A2 mutation associated with familial porencephaly and small-vessel disease. - Wikidata - awgldk - TriplyDB

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

http://www.wikidata.org/entity/Q36105205

about

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency Genetic factors involves in intracranial aneurysms--actualities Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Coronary-Heart-Disease-Associated Genetic Variant at the COL4A1/COL4A2 Locus Affects COL4A1/COL4A2 Expression, Vascular Cell Survival, Atherosclerotic Plaque Stability and Risk of Myocardial Infarction.Genome-wide association study of shared components of reading disability and language impairment.Endothelial cell-oligodendrocyte interactions in small vessel disease and aging siRNA-mediated suppression of collagen type iv alpha 2 (COL4A2) mRNA inhibits triple-negative breast cancer cell proliferation and migration.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.Monogenic causes of stroke: now and the future.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.NRSN1 associated grey matter volume of the visual word form area reveals dyslexia before school.Neonatal disorders of germinal matrix.'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms.MRI pattern approach of adult-onset inherited leukoencephalopathies.A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.Brain vascular heterogeneity: implications for disease pathogenesis and design of in vitro blood-brain barrier models.COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

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COL4A2 mutation associated with familial porencephaly and small-vessel disease.

http://www.wikidata.org/entity/Q36105205

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

@ast

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

@en

type

label

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

@ast

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

@en

prefLabel

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

@ast

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

@en

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P1433

European Journal of Human Genetics

P1476

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

@en

P2093

Cathryn J Poulton

http://www.w3.org/2001/XMLSchema#string

Daniel J Licht

http://www.w3.org/2001/XMLSchema#string

Debbie S Kuo

http://www.w3.org/2001/XMLSchema#string

Dicky J Halley

http://www.w3.org/2001/XMLSchema#string

Douglas B Gould

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Elly Verbeek

http://www.w3.org/2001/XMLSchema#string

Frans W Verheijen

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Grazia M S Mancini

http://www.w3.org/2001/XMLSchema#string

Jan C den Hollander

http://www.w3.org/2001/XMLSchema#string

Jeroen Dudink

http://www.w3.org/2001/XMLSchema#string

P2860

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

mir-29 regulates Mcl-1 protein expression and apoptosis

Mammalian collagen IV

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

IRE1 signaling affects cell fate during the unfolded protein response

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

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844-851

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scholarly article

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10.1038/EJHG.2012.20

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8

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20

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2012-02-15T00:00:00Z

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221831964

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22333902

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3400734

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