Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management. - Wikidata - awgldk - TriplyDB

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.

http://www.wikidata.org/entity/Q37914682

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Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.Nogo-B receptor deficiency causes cerebral vasculature defects during embryonic development in mice.PTEN/PI3K/Akt/VEGF signaling and the cross talk to KRIT1, CCM2, and PDCD10 proteins in cerebral cavernous malformations.Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2.Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.

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Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.

http://www.wikidata.org/entity/Q37914682

description

article científic

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article scientifique

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artikel ilmiah

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Cerebral cavernous malformatio ...... lling and clinical management.

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Cerebral cavernous malformatio ...... lling and clinical management.

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type

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Cerebral cavernous malformatio ...... lling and clinical management.

@en

Cerebral cavernous malformatio ...... lling and clinical management.

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Cerebral cavernous malformatio ...... lling and clinical management.

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Cerebral cavernous malformatio ...... lling and clinical management.

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European Journal of Human Genetics

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Cerebral cavernous malformatio ...... lling and clinical management.

@en

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Anneke J Maat-Kievit

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Caroline Cheng

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Henricus J Duckers

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Remco A Haasdijk

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KRIT1 regulates the homeostasis of intracellular reactive oxygen species

Two genetic hits (more or less) to cancer

PDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulation of the ERK pathway

Caspase activation of mammalian sterile 20-like kinase 3 (Mst3). Nuclear translocation and induction of apoptosis

CCM3/PDCD10 stabilizes GCKIII proteins to promote Golgi assembly and cell orientation

CCM1 regulates vascular-lumen organization by inducing endothelial polarity

Inhibition of cell migration by autophosphorylated mammalian sterile 20-like kinase 3 (MST3) involves paxillin and protein-tyrosine phosphatase-PEST

Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity

YSK1 is activated by the Golgi matrix protein GM130 and plays a role in cell migration through its substrate 14-3-3zeta

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

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134-140

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scholarly article

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10.1038/EJHG.2011.155

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2

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20

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2011-08-10T00:00:00Z

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51559547

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21829231

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3260921

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