×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
GeneticVariation
disease
BEFREE
Mutations in BUB1B and CEP57 genes have been involved in MVA .
30010053
2019
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
Biomarker
disease
CLINGEN
Mosaic variegated aneuploidy in mouse BubR1 deficient embryos and pregnancy loss in human.
24981203
2014
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
Biomarker
disease
MGD
Reduced life- and healthspan in mice carrying a mono-allelic BubR1 MVA mutation.
23300461
2012
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
Biomarker
disease
CLINGEN
Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy.
18932004
2008
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
GeneticVariation
disease
BEFREE
We report on two mildly affected sibs with MVA syndrome but without BUB1B mutation.
18548531
2008
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
GeneticVariation
disease
BEFREE
Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome .
16182441
2006
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
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
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
Biomarker
disease
CTD_human
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
15475955
2004
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
GeneticVariation
disease
UNIPROT
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
15475955
2004
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
Biomarker
disease
GENOMICS_ENGLAND
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
15475955
2004
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
Biomarker
disease
CLINGEN
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
15475955
2004
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
GermlineCausalMutation
disease
ORPHANET
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
15475955
2004
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
CausalMutation
disease
CLINVAR
×
Entrez Id:
701
Gene Symbol:
BUB1B
BUB1B
1.000
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
9702
Gene Symbol:
CEP57
CEP57
0.640
GeneticVariation
disease
BEFREE
Similar defects are observed in mosaic variegated aneuploidy syndrome patient cells with cep57 mutations.
30804344
2019
×
Entrez Id:
9702
Gene Symbol:
CEP57
CEP57
0.640
GeneticVariation
disease
BEFREE
Here we report on a male child with MVA due to c.915_925dupCAATGTTCAGC mutation in the CEP57 gene.
30010053
2019