Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts
Pathogenic variants of BUB1 and BUBR1 genes are not prioritized in screening tests of couples with aborted aneuploid fetuses.
Gorji R et al.
Molecular Biology Research Communications, 2025
Mosaic variegated aneuploidy in development, ageing and cancer.
Malumbres M et al.
Nature Reviews. Genetics, 2024
BubR1 and SIRT2: Insights into aneuploidy, aging, and cancer.
Pun R et al.
Seminars in Cancer Biology, 2024
A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.
Cannon-Albright LA et al.
Cancers, 2023
38136396 (PubMed )
Supplement: cancers-15-05851-s001.zip › cancers-2619236-supplementary_MDH2_V2.xlsx › Table_S1
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_6
BUBR1 Pseudokinase Domain Promotes Kinetochore PP2A-B56 Recruitment, Spindle Checkpoint Silencing, and Chromosome Alignment.
Gama Braga L et al.
Cell Reports, 2020
BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome.
Sieben CJ et al.
The Journal of Clinical Investigation, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.
Suijkerbuijk SJ et al.
Cancer Research, 2010
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.
García-Castillo H et al.
American Journal of Medical Genetics. Part A, 2008
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Hanks S et al.
Nature Genetics, 2004
Select a paper to view details