Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain - Wikidata - wikimedia - TriplyDB

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

http://www.wikidata.org/entity/Q30487788

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Pathophysiology of the neurovascular unit: disease cause or consequence?Mutations of NOTCH3 in childhood pulmonary arterial hypertension Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3 Genetic susceptibility to ischemic stroke.Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression.CADASIL and CARASIL.Interplay between CCN1 and Wnt5a in endothelial cells and pericytes determines the angiogenic outcome in a model of ischemic retinopathy.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease.Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits New information on the genetics of stroke.Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.Translational models for vascular cognitive impairment: a review including larger species The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells.Notch signaling in the vasculature Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL Stroke-related translational research.notch3 is essential for oligodendrocyte development and vascular integrity in zebrafish.Genetic animal models of cerebral vasculopathies.CADASIL: experimental insights from animal models.Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.Notch and disease: a growing field.Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.Animal models of monogenic migraine.Genetics of ischaemic stroke.RNA interference-mediated NOTCH3 knockdown induces phenotype switching of vascular smooth muscle cells in vitro.Increased Notch3 Activity Mediates Pathological Changes in Structure of Cerebral Arteries.Skin and sural nerve biopsies: ultrastructural findings in the first genetically confirmed cases of CADASIL in Serbia.

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Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

http://www.wikidata.org/entity/Q30487788

description

2009 nî lūn-bûn

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2009 թուականի Մարտին հրատարակուած գիտական յօդուած

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2009 թվականի մարտին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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Distinct phenotypic and functi ...... e Notch3 ligand binding domain

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Distinct phenotypic and functi ...... e Notch3 ligand binding domain

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Distinct phenotypic and functi ...... e Notch3 ligand binding domain

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Distinct phenotypic and functi ...... e Notch3 ligand binding domain

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Barbara Lemaire

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

Boris Bardot

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

Marie Monet-Leprêtre

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

Ophélia Godin

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Valérie Domenga

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P2860

The nephroblastoma overexpressed gene (NOV/ccn3) protein associates with Notch1 extracellular domain and inhibits myoblast differentiation via Notch signaling pathway

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Microfibrillar proteins MAGP-1 and MAGP-2 induce Notch1 extracellular domain dissociation and receptor activation

DNER acts as a neuron-specific Notch ligand during Bergmann glial development

Regulation of notch signaling activity

F3/contactin acts as a functional ligand for Notch during oligodendrocyte maturation

Clinical severity in CADASIL related to ultrastructural damage in white matter: in vivo study with diffusion tensor MRI.

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1601-1612

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scholarly article

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10.1093/BRAIN/AWP049

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P433

Pt 6

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P478

132

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Martin Dichgans

Elisabeth Tournier-Lasserve

Michel Cohen-Tannoudji

Hugues Chabriat

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2009-03-17T00:00:00Z

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24207362

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19293235

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2685919

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