Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel PDCD10 gene mutation in cerebral cavernous malformations: a case report and review of the literature.
|
31114296 |
2019 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cerebral cavernous malformation 3 (CCM3) is a vascular malformation disorder causing brain slow-flow vascular parenchymal lesions.
|
30904992 |
2019 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
Results- The Pdcd10 <sup>+/</sup><sup>-</sup> Trp53 <sup>-/</sup><sup>-</sup> /Msh2 <sup>-/</sup><sup>-</sup> models showed a mean CCM lesion burden per mouse reduction from 0.0091 in placebos to 0.0042 ( P=0.027) by fasudil, and to 0.0047 ( P=0.025) by atorvastatin treatment, but was not changed significantly by simvastatin.
|
30744543 |
2019 |
Cavernous Hemangioma of Brain
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Moreover, we show that CDC42 interacts with CCMs and that CCM3 promotes CDC42 activity in ECs.
|
30732528 |
2019 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
In conclusion, the use of CRISPR/Cas9 genome editing provides new insight into the consequences of long-term CCM3 inactivation in human ECs and supports the hypothesis that clonal expansion of CCM3-deficient dysfunctional ECs contributes to CCM formation.
|
30549232 |
2019 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations.
|
31426861 |
2019 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
We have provided a comprehensive transcriptome library of CCM disease across species and for the first time to our knowledge in Ccm1/Krit1 versus Ccm3/Pdcd10 genotypes.
|
30728328 |
2019 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here, we demonstrate that the gut barrier is a primary determinant of CCM disease course, independent of microbiome configuration, that explains the increased severity of CCM disease associated with PDCD10 deficiency.
|
31776290 |
2019 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cerebral cavernous malformation (CCM) is an inherited vascular disease that occurs when a second somatic mutation causes a loss of CCM1/KRIT1, CCM2, or CCM3 proteins.
|
29364115 |
2018 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we report in detail on a human pathology, cerebral cavernous malformation (CCM), which is initiated by loss-of-function mutations in the genes that encode the three cytoplasmic components of AJs (CCM1, CCM2, and CCM3).
|
28851747 |
2018 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic variants in <i>KRIT1/CCM1, MGC4607/CCM2</i>, and <i>PDCD10/CCM3</i> genes contribute to CCMs.
|
30622508 |
2018 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
|
30161288 |
2018 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.
|
28645800 |
2017 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cerebral cavernous malformations (CCM) are vascular lesions associated with loss-of-function mutations in one of the three genes encoding KRIT1 (CCM1), CCM2, and PDCD10.
|
28181149 |
2017 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CCM affects 0.5% of the population and follows an autosomal dominant inheritance pattern caused by mutations in one of the three genes: CCM1 (gene name KRIT1), CCM2 (also known as malcavernin or OSM), and CCM3 (gene name PDCD10) [2, 3], with the earliest onset and most severe prognosis occurring in CCM3 patients [4].
|
28285997 |
2017 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
The identified endothelial signalling pathway of CCM3-DLL4/Notch-EphB4-Erk1/2 may provide an insight into mechanism of CCM3-ablation-mediated angiogenesis and could potentially contribute to novel therapeutic concepts for disrupting aberrant angiogenesis in CCM and in hyper-vascularized tumours.
|
28371279 |
2017 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in the CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation (CCM) in humans.
|
28892037 |
2017 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we undertook a case-control study to investigate the possible association of others polymorphisms (c.485+65 C/G, c.989+63 C/G, c.1980 A/G in CCM1 gene, c.472+127 C/T in CCM2 and c.150 G/A in CCM3) with CCMs.
|
28870584 |
2017 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple lesions.
|
27561926 |
2016 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation.
|
27548575 |
2016 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
Insufficient autophagy is also evident in CCM2-silenced human endothelial cells and in both cells and tissues from an endothelial-specific CCM3-knockout mouse model, as well as in human CCM lesions.
|
26417067 |
2015 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial cerebral cavernous malformations (CCMs) are predominantly neurovascular lesions and are associated with mutations within the KRIT1, CCM2, and PDCD10 genes.
|
25525273 |
2015 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene.
|
25966944 |
2015 |
Cavernous Hemangioma of Brain
|
0.400 |
Biomarker
|
disease |
BEFREE |
PDCD10 (CCM3) regulates brain endothelial barrier integrity in cerebral cavernous malformation type 3: role of CCM3-ERK1/2-cortactin cross-talk.
|
26385474 |
2015 |
Cavernous Hemangioma of Brain
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cerebral cavernous malformations (CCM) are vascular dysplasias that usually occur in the brain and are associated with mutations in the KRIT1/CCM1, CCM2/MGC4607/OSM/Malcavernin, and PDCD10/CCM3/TFAR15 genes.
|
26458359 |
2015 |