Mosaic variegated aneuploidy syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a 38-month-old Japanese male with premature chromatid separation/mosaic variegated aneuploidy syndrome bearing biallelic BUB1B germline mutations who suffered from bilateral Wilms tumor.
|
31081598 |
2019 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BUB1B and CEP57 genes have been involved in MVA.
|
30010053 |
2019 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Emerging evidence demonstrates that decline in the mitotic checkpoint kinase BubR1 level occurs with natural aging and induces progeroid features in both mice and children with mosaic variegated aneuploidy syndrome.
|
28383136 |
2017 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BUB1B, encoding BUBR1, one of the crucial components of the spindle assembly checkpoint (SAC), have been shown to cause variable phenotypes, including the recessive mosaic variegated aneuploidy (MVA) syndrome, which predisposes to cancer.
|
27239782 |
2016 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.
|
24344301 |
2014 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mosaic variegated aneuploidy in mouse BubR1 deficient embryos and pregnancy loss in human.
|
24981203 |
2014 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.
|
24344301 |
2014 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
MGD |
Reduced life- and healthspan in mice carrying a mono-allelic BubR1 MVA mutation.
|
23300461 |
2012 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we report that BUBR1 is essential for the primary cilium formation, and that the PCS (MVA) syndrome is thus a novel ciliopathy.
|
21389084 |
2011 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Our findings expand the phenotype associated with BUB1B mutations and the mosaic variegated aneuploidy syndrome to include common adult-onset cancers and provide evidence for the interdependency of the APC protein (encoded by the adenomatous polyposis coli gene) and the BUBR1 protein (encoded by BUB1B) in humans.
|
21190457 |
2010 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the phenotype associated with BUB1B mutations and the mosaic variegated aneuploidy syndrome to include common adult-onset cancers and provide evidence for the interdependency of the APC protein (encoded by the adenomatous polyposis coli gene) and the BUBR1 protein (encoded by BUB1B) in humans.
|
21190457 |
2010 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy.
|
18932004 |
2008 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on two mildly affected sibs with MVA syndrome but without BUB1B mutation.
|
18548531 |
2008 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Biallelic BUB1B mutations were recently reported in five of eight families with MVA syndrome (probably identical to the PCS syndrome).
|
16411201 |
2006 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome.
|
16182441 |
2006 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Biallelic BUB1B mutations were recently reported in five of eight families with MVA syndrome (probably identical to the PCS syndrome).
|
16411201 |
2006 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
|
15475955 |
2004 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
|
15475955 |
2004 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
|
15475955 |
2004 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
|
15475955 |
2004 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
|
15475955 |
2004 |
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Mosaic variegated aneuploidy syndrome 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|