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Title
PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations
Authors
Keywords
Lesions, Mutation, Magnetic resonance imaging, Hemorrhage, Mutation detection, Deletion mutation, Human families, Italian people
Journal
PLoS One
Volume 9, Issue 10, Pages e110438
Publisher
Public Library of Science (PLoS)
Online
2014-10-30
DOI
10.1371/journal.pone.0110438
References
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Related references
Note: Only part of the references are listed.- Association of Cardiovascular Risk Factors with Disease Severity in Cerebral Cavernous Malformation Type 1 Subjects with the Common Hispanic Mutation
- (2014) Hélène Choquet et al. CEREBROVASCULAR DISEASES
- Loss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations
- (2013) Chao You et al. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
- De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations
- (2012) Lorena Mosca et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- Ccm3 functions in a manner distinct from Ccm1 and Ccm2 in a zebrafish model of CCM vascular disease
- (2011) Bilge Yoruk et al. DEVELOPMENTAL BIOLOGY
- CCM3/PDCD10 Heterodimerizes with Germinal Center Kinase III (GCKIII) Proteins Using a Mechanism Analogous to CCM3 Homodimerization
- (2011) Derek F. Ceccarelli et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice
- (2011) Aubrey C. Chan et al. JOURNAL OF CLINICAL INVESTIGATION
- Loss ofcerebral cavernous malformation 3(Ccm3) in neuroglia leads to CCM and vascular pathology
- (2011) Angeliki Louvi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Crystal structure of human programmed cell death 10 complexed with inositol-(1,3,4,5)-tetrakisphosphate: A novel adaptor protein involved in human cerebral cavernous malformation
- (2010) Jingjin Ding et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Recent insights into cerebral cavernous malformations: the molecular genetics of CCM
- (2010) Florence Riant et al. FEBS Journal
- Recent insights into cerebral cavernous malformations: a complex jigsaw puzzle under construction
- (2010) Eva Faurobert et al. FEBS Journal
- Crystal Structure of CCM3, a Cerebral Cavernous Malformation Protein Critical for Vascular Integrity
- (2010) Xiaofeng Li et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- CCM3/PDCD10 stabilizes GCKIII proteins to promote Golgi assembly and cell orientation
- (2010) M. Fidalgo et al. JOURNAL OF CELL SCIENCE
- CCM3 signaling through sterile 20–like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations
- (2010) Xiangjian Zheng et al. JOURNAL OF CLINICAL INVESTIGATION
- Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation
- (2010) Silvana Pileggi et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family
- (2010) Chi-un Choe et al. JOURNAL OF NEUROLOGY
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Differential angiogenesis function ofCCM2andCCM3in cerebral cavernous malformations
- (2010) Yuan Zhu et al. Neurosurgical Focus
- Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach
- (2009) Silvana Penco et al. JOURNAL OF NEUROSURGERY
- Familial cerebral cavernous malformation: report of a further Italian family
- (2009) Serena Nannucci et al. NEUROLOGICAL SCIENCES
- Apoptotic Functions of PDCD10/CCM3 , the Gene Mutated in Cerebral Cavernous Malformation 3
- (2009) Leiling Chen et al. STROKE
- A PP2A Phosphatase High Density Interaction Network Identifies a Novel Striatin-interacting Phosphatase and Kinase Complex Linked to the Cerebral Cavernous Malformation 3 (CCM3) Protein
- (2008) Marilyn Goudreault et al. MOLECULAR & CELLULAR PROTEOMICS
- Sporadic Multiple Cerebral Cavernomatosis
- (2008) Arzu Coban et al. NEUROLOGIST
- Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations
- (2007) Seung-Tae Lee et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
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