Mutations within the MGC4607 gene cause cerebral cavernous malformations - Wikidata - awgldk - TriplyDB

Mutations within the MGC4607 gene cause cerebral cavernous malformations

Mutations within the MGC4607 gene cause cerebral cavernous malformations

http://www.wikidata.org/entity/Q24306080

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Susceptibility-Weighted Imaging for the Evaluation of Patients with Familial Cerebral Cavernous Malformations: A Comparison with T2-Weighted Fast Spin-Echo and Gradient-Echo Sequences Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations Deletions in CCM2 are a common cause of cerebral cavernous malformations Cerebral cavernous malformation is a vascular disease associated with activated RhoA signaling Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice Cerebral Cavernous Malformations: Review of the Genetic and Protein-Protein Interactions Resulting in Disease Pathogenesis Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations Pediatric cerebral cavernous malformations: Genetics, pathogenesis, and management.Phosphorylation sites in the cerebral cavernous malformations complex CCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations Network-based analysis of omics data: the LEAN method Cavernous hemangioma of the spinal cord - conservative or operative management?Cerebral cavernous malformation: new molecular and clinical insights.Recent insights into cerebral cavernous malformations: a complex jigsaw puzzle under construction.Cerebral cavernous malformations: somatic mutations in vascular endothelial cells Brainstem cavernous malformations: a review with two case reports.Defining the functional domain of programmed cell death 10 through its interactions with phosphatidylinositol-3,4,5-trisphosphate.Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype Mechanisms of vascular stability and the relationship to human disease Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.PDCD10 gene mutations in multiple cerebral cavernous malformations A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.PDCD10/CCM3 acts downstream of {gamma}-protocadherins to regulate neuronal survival.Pathogenesis of vascular anomalies.The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases ccm2-like is required for cardiovascular development as a novel component of the Heg-CCM pathway.Update on the molecular genetics of vascular anomalies.A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations.Conditional deletion of Ccm2 causes hemorrhage in the adult brain: a mouse model of human cerebral cavernous malformations.Strategy for identifying repurposed drugs for the treatment of cerebral cavernous malformation.Genetics of cerebral cavernous malformations: current status and future prospects Arteriovenous malformations and other vascular malformation syndromes.

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P2860

Mutations within the MGC4607 gene cause cerebral cavernous malformations

http://www.wikidata.org/entity/Q24306080

description

2004 nî lūn-bûn

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2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի փետրվարին հրատարակված գիտական հոդված

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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name

Mutations within the MGC4607 gene cause cerebral cavernous malformations

@ast

Mutations within the MGC4607 gene cause cerebral cavernous malformations

@en

Mutations within the MGC4607 gene cause cerebral cavernous malformations

@en-gb

Mutations within the MGC4607 gene cause cerebral cavernous malformations

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type

label

Mutations within the MGC4607 gene cause cerebral cavernous malformations

@ast

Mutations within the MGC4607 gene cause cerebral cavernous malformations

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Mutations within the MGC4607 gene cause cerebral cavernous malformations

@en-gb

Mutations within the MGC4607 gene cause cerebral cavernous malformations

@nl

prefLabel

Mutations within the MGC4607 gene cause cerebral cavernous malformations

@ast

Mutations within the MGC4607 gene cause cerebral cavernous malformations

@en

Mutations within the MGC4607 gene cause cerebral cavernous malformations

@en-gb

Mutations within the MGC4607 gene cause cerebral cavernous malformations

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American Journal of Human Genetics

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Mutations within the MGC4607 gene cause cerebral cavernous malformations

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A Cousin

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A M Redondo

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A Nivelon-Chevallier

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B Gilbert

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J Comoy

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J J Moreau

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P2860

Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene

Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis

Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation

A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas

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10.1086/381718

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2

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Alim-Louis Benabid

Elisabeth Tournier-Lasserve

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CCM2 scaffold protein

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1181930

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