|
Cerebral Cavernous Malformations 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Most are linked to loss-of-function mutations in 1 of 3 genes, namely CCM1 (originally called KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10), that can either occur as sporadic events or are inherited in an autosomal dominant pattern with incomplete penetrance.
|
30476961 |
2019 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
CCMs can arise from loss-of-function mutations in any one of CCM1 (KRIT1), CCM2 or CCM3 (PDCD10).
|
31369819 |
2019 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10).
|
30314744 |
2019 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
This work deepens our understanding of how CCM3 regulates vascular integrity and may help identify therapeutic targets for treating CCM3 patients.
|
30208312 |
2018 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
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 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations.
|
26896283 |
2016 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
These are vascular lesions of the CNS characterized by abnormally enlarged capillary cavities that can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1(Krit1), CCM2 (MGC4607) and CCM3 (PDCD10).
|
26122242 |
2015 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
CCM occurs in both sporadic and familial forms; familial cases follow an autosomal-dominant mode of inheritance and are caused by mutations in CCM1 (KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10).
|
25900426 |
2015 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
PDCD10 gene mutations in multiple cerebral cavernous malformations.
|
25354366 |
2014 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genomic causes of multiple cerebral cavernous malformations in a Japanese population.
|
23485406 |
2013 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
CCM is caused by loss-of-function mutations in one of three genes, namely CCM1 (also known as KRIT1), CCM2 (OSM) and CCM3 (PDCD10), and occurs in both sporadic and familial forms.
|
23748444 |
2013 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.
|
23801932 |
2013 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1 (K-Rev interaction trapped 1 (KRIT1)), CCM2 (MGC4607), and CCM3 (PDCD10).
|
24058906 |
2013 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
|
23595507 |
2013 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
Cerebral cavernous malformations (CCMs) are vascular lesions of the CNS characterized by abnormally enlarged capillary cavities that can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10).
|
22378217 |
2012 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3.
|
19246713 |
2009 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations.
|
18035376 |
2008 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mutations.
|
18300272 |
2008 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
In this study, we demonstrate that CCM3 (PDCD10) coprecipitates and colocalizes with CCM2.
|
17657516 |
2007 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.
|
15543491 |
2005 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.
|
15543491 |
2005 |
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
|
Cerebral Cavernous Malformations 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Cerebral Cavernous Malformations 3
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Familial cerebral cavernous malformation
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Familial cerebral cavernous malformation (FCCM) is a vascular malformation disorder that closely associated with three identified genes: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3.
|
28160210 |
2017 |