Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. - Wikidata - awgldk - TriplyDB

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

http://www.wikidata.org/entity/Q37092450

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KRIT1 regulates the homeostasis of intracellular reactive oxygen species Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling.Mechanism for KRIT1 Release of ICAP1-Mediated Suppression of Integrin Activation Structural Basis for Small G Protein Effector Interaction of Ras-related Protein 1 (Rap1) and Adaptor Protein Krev Interaction Trapped 1 (KRIT1)Rho kinase as a target for cerebral vascular disorders Structural analysis of the KRIT1 ankyrin repeat and FERM domains reveals a conformationally stable ARD-FERM interface 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.Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations Phosphorylation sites in the cerebral cavernous malformations complex Rap1 and its effector KRIT1/CCM1 regulate beta-catenin signaling.Cerebral cavernous malformations: somatic mutations in vascular endothelial cells Biology of vascular malformations of the brain.Role of cytoskeletal proteins in cerebral cavernous malformation signaling pathways: a proteomic analysis.Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity.Mechanisms of vascular stability and the relationship to human disease Brain arteriovenous malformation modeling, pathogenesis, and novel therapeutic targets.Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.Pathogenesis of vascular anomalies.Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology.Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Arteriovenous malformation in the adult mouse brain resembling the human disease.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.Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14 Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease Genetics of cerebral cavernous malformations: current status and future prospects Crystallization and preliminary X-ray analysis of the C-terminal domain of CCM2, part of a novel adaptor protein involved in cerebral cavernous malformations.The cerebral cavernous malformation pathway controls cardiac development via regulation of endocardial MEKK3 signaling and KLF expression.Evaluating strategies for the treatment of cerebral cavernous malformations Vascular permeability in cerebral cavernous malformations.Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.Minimal homozygous endothelial deletion of Eng with VEGF stimulation is sufficient to cause cerebrovascular dysplasia in the adult mouse.Recent advances in vascular development.Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling.

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Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

http://www.wikidata.org/entity/Q37092450

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 16 December 2008

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Biallelic somatic and germline ...... mechanism of CCM pathogenesis.

@en

Biallelic somatic and germline mutations in cerebral cavernous malformations

@nl

type

label

Biallelic somatic and germline ...... mechanism of CCM pathogenesis.

@en

Biallelic somatic and germline mutations in cerebral cavernous malformations

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prefLabel

Biallelic somatic and germline ...... mechanism of CCM pathogenesis.

@en

Biallelic somatic and germline mutations in cerebral cavernous malformations

@nl

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Human Molecular Genetics

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Biallelic somatic and germline ...... mechanism of CCM pathogenesis.

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Amy L Akers

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Douglas A Marchuk

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Eric Johnson

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Gary K Steinberg

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P2860

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")

Mutations within the MGC4607 gene cause cerebral cavernous malformations

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein.

Mutation and cancer: statistical study of retinoblastoma

Deletions in CCM2 are a common cause of cerebral cavernous malformations

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

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919-930

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scholarly article

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10.1093/HMG/DDN430

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5

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18

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Joseph M Zabramski

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2008-12-16T00:00:00Z

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23669055

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19088123

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2640209

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