COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans - Wikidata - wikimedia - TriplyDB

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

http://www.wikidata.org/entity/Q28478186

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Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities A developmental and genetic classification for malformations of cortical development: update 2012 Childhood presentation of COL4A1 mutations Mechanisms of perinatal arterial ischemic stroke Barrier mechanisms in neonatal stroke Col4a1 mutations cause progressive retinal neovascular defects and retinopathy Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.Association of COL4A1 genetic polymorphisms with coronary artery disease in Uygur population in Xinjiang, China.Peroxidasin forms sulfilimine chemical bonds using hypohalous acids in tissue genesis.Polymicrogyria: pathology, fetal origins and mechanisms.Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.Cell-specific and developmental expression of lectican-cleaving proteases in mouse hippocampus and neocortex.Nuclear envelope in nuclear positioning and cell migration COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.Laminin-211 in skeletal muscle function.Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy.Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy.Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.Cell-matrix interactions in muscle disease.Developmental disorders of the midbrain and hindbrain.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.MicroRNA-29a in Adult Muscle Stem Cells Controls Skeletal Muscle Regeneration During Injury and Exercise Downstream of Fibroblast Growth Factor-2.The highly expressed COL4A1 genes contributes to the proliferation and migration of the invasive ductal carcinomas HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.β2 and γ3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia.Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

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COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

http://www.wikidata.org/entity/Q28478186

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2011 nî lūn-bûn

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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2011 թվականի մայիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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COL4A1 mutations cause ocular ...... ker-Warburg syndrome in humans

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COL4A1 mutations cause ocular ...... ker-Warburg syndrome in humans

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COL4A1 mutations cause ocular ...... ker-Warburg syndrome in humans

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COL4A1 mutations cause ocular ...... ker-Warburg syndrome in humans

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COL4A1 mutations cause ocular ...... ker-Warburg syndrome in humans

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COL4A1 mutations cause ocular ...... ker-Warburg syndrome in humans

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COL4A1 mutations cause ocular ...... ker-Warburg syndrome in humans

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COL4A1 mutations cause ocular ...... ker-Warburg syndrome in humans

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JOURNAL.PGEN.1002062

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COL4A1 mutations cause ocular ...... ker-Warburg syndrome in humans

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Cassandre Labelle-Dumais

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Christopher A Walsh

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Daniel E Michele

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David J Dilworth

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David Lyons

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Emily P Harrington

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Michelle de Leau

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Zhyldyz Kabaeva

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P2860

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

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

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

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

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

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10.1371/JOURNAL.PGEN.1002062

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5

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William B. Dobyns

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2011-05-01T00:00:00Z

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51177694

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21625620

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3098190

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