Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
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Two non-homologous brain diseases-related genes, SERPINI1 and PDCD10, are tightly linked by an asymmetric bidirectional promoter in an evolutionarily conserved mannerSusceptibility-Weighted Imaging for the Evaluation of Patients with Familial Cerebral Cavernous Malformations: A Comparison with T2-Weighted Fast Spin-Echo and Gradient-Echo SequencesPDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulation of the ERK pathwayCCM3/PDCD10 heterodimerizes with germinal center kinase III (GCKIII) proteins using a mechanism analogous to CCM3 homodimerizationBiomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesisAdaptor protein cerebral cavernous malformation 3 (CCM3) mediates phosphorylation of the cytoskeletal proteins ezrin/radixin/moesin by mammalian Ste20-4 to protect cells from oxidative stressCCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesisA PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) proteinCrystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrityLoss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformationsDeletions in CCM2 are a common cause of cerebral cavernous malformationsCavernoma-related epilepsy: review and recommendations for management--report of the Surgical Task Force of the ILAE Commission on Therapeutic StrategiesVascular anomalies: from genetics toward models for therapeutic trialsMicro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient MiceMolecular Recognition of Leucine-Aspartate Repeat (LD) Motifs by the Focal Adhesion Targeting Homology Domain of Cerebral Cavernous Malformation 3 (CCM3)Cerebral Cavernous Malformations: Review of the Genetic and Protein-Protein Interactions Resulting in Disease PathogenesisRho kinase as a target for cerebral vascular disordersRegulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathwayStructural analysis of the KRIT1 ankyrin repeat and FERM domains reveals a conformationally stable ARD-FERM interfaceStructural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutationsAncestry and evolution of a secretory pathway serpinKLF4 is a key determinant in the development and progression of cerebral cavernous malformations.Pediatric cerebral cavernous malformations: Genetics, pathogenesis, and management.Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutationsPhosphorylation sites in the cerebral cavernous malformations complexCCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformationsNetwork-based analysis of omics data: the LEAN methodA Marfan syndrome gene expression phenotype in cultured skin fibroblasts.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 cellsCavernous angioma: a clinical study of 35 cases with review of the literature.Identification of candidate growth promoting genes in ovarian cancer through integrated copy number and expression analysis.Defining the functional domain of programmed cell death 10 through its interactions with phosphatidylinositol-3,4,5-trisphosphate.Role of cytoskeletal proteins in cerebral cavernous malformation signaling pathways: a proteomic analysis.A mouse model of heritable cerebrovascular disease.Systems biology and proteomic analysis of cerebral cavernous malformationRecent insights into cerebral cavernous malformations: animal models of CCM and the human phenotypeMechanisms of vascular stability and the relationship to human diseaseLesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.
P2860
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P2860
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@ast
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@en
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@en-gb
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@nl
type
label
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@ast
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@en
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@en-gb
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@nl
prefLabel
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@ast
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@en
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@en-gb
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@nl
P2093
P2860
P3181
P356
P1476
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
@en
P2093
F Bergametti
J J Moreau
P2860
P3181
P356
10.1086/426952
P407
P577
2005-01-01T00:00:00Z