Literature DB >> 21829231

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

Remco A Haasdijk1, Caroline Cheng, Anneke J Maat-Kievit, Henricus J Duckers.   

Abstract

Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells. Mutations lead to the development of abnormal vascular structures.In this article, we review the clinical features, molecular and genetic basis of the disease, and management.

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Year:  2011        PMID： 21829231      PMCID： PMC3260921          DOI： 10.1038/ejhg.2011.155

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  85 in total

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5.  Upregulation of transmembrane endothelial junction proteins in human cerebral cavernous malformations.

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6.  A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

Authors:  David A McDonald; Robert Shenkar; Changbin Shi; Rebecca A Stockton; Amy L Akers; Melanie H Kucherlapati; Raju Kucherlapati; James Brainer; Mark H Ginsberg; Issam A Awad; Douglas A Marchuk
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8.  Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

Authors:  Amy L Akers; Eric Johnson; Gary K Steinberg; Joseph M Zabramski; Douglas A Marchuk
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Journal:  Nat Med       Date:  2009-01-18       Impact factor: 53.440
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  22 in total

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3.  Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.

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Review 4.  PTEN/PI3K/Akt/VEGF signaling and the cross talk to KRIT1, CCM2, and PDCD10 proteins in cerebral cavernous malformations.

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Review 5.  Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis.

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6.  Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.

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Review 7.  Familial Cerebral Cavernous Malformations.

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8.  Nogo-B receptor deficiency causes cerebral vasculature defects during embryonic development in mice.

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9.  Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2.

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10.  Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.

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