Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology

(2021) Diana Santos et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

WAPL-Dependent Repair of Damaged DNA Replication Forks Underlies Oncogene-Induced Loss of Sister Chromatid Cohesion

(2020) Bente Benedict et al.   DEVELOPMENTAL CELL

Aurora B kinase is recruited to multiple discrete kinetochore and centromere regions in human cells

(2020) Amanda J. Broad et al.   JOURNAL OF CELL BIOLOGY

Untangling the contribution of Haspin and Bub1 to Aurora B function during mitosis

(2020) Michael A. Hadders et al.   JOURNAL OF CELL BIOLOGY

Centrosomes: The good and the bad for brain development

(2020) Véronique Marthiens et al.   BIOLOGY OF THE CELL

Topoisomerase IIα is essential for maintenance of mitotic chromosome structure

(2020) Christian F. Nielsen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

(2020) Janne J. M. van Schie et al.   Nature Communications

Dissecting the Genetic and Etiological Causes of Primary Microcephaly

(2020) Francesca Jean et al.   Frontiers in Neurology

Efficient mitotic checkpoint signaling depends on integrated activities of Bub1 and the RZZ complex

(2019) Gang Zhang et al.   EMBO JOURNAL

Bub1—the zombie protein that CRISPR cannot kill

(2019) Patrick Meraldi   EMBO JOURNAL

The Bub1-TPR Domain Interacts Directly with Mad3 to Generate Robust Spindle Checkpoint Arrest

(2019) Ioanna Leontiou et al.   CURRENT BIOLOGY

Conservation and Variability of the AUG Initiation Codon Context in Eukaryotes

(2019) Greco Hernández et al.   TRENDS IN BIOCHEMICAL SCIENCES

Robust elimination of genome-damaged cells safeguards against brain somatic aneuploidy following Knl1 deletion

(2019) Lei Shi et al.   Nature Communications

The expanding phenotypes of cohesinopathies: one ring to rule them all!

(2019) Jessica Piché et al.   CELL CYCLE

Histone H2A phosphorylation recruits topoisomerase II α to centromeres to safeguard genomic stability

(2019) Miao Zhang et al.   EMBO JOURNAL

Killing a zombie: a full deletion of the BUB 1 gene in HAP 1 cells

(2019) Jonne A Raaijmakers et al.   EMBO JOURNAL

Centromere-localized Aurora B kinase is required for the fidelity of chromosome segregation

(2019) Cai Liang et al.   JOURNAL OF CELL BIOLOGY

The Mitotic Apparatus and Kinetochores in Microcephaly and Neurodevelopmental Diseases

(2019) Francesca Degrassi et al.   Cells

A quantitative analysis of cohesin decay in mitotic fidelity

(2018) Sara Carvalhal et al.   JOURNAL OF CELL BIOLOGY

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis

(2018) Pilar Mur et al.   Molecular Cancer

BUB1 Is Essential for the Viability of Human Cells in which the Spindle Assembly Checkpoint Is Compromised

(2018) Jonne A. Raaijmakers et al.   Cell Reports

Bub1 is not essential for the checkpoint response to unattached kinetochores in diploid human cells

(2018) Cerys E. Currie et al.   CURRENT BIOLOGY

Multiple determinants and consequences of cohesion fatigue in mammalian cells

(2018) Hem Sapkota et al.   MOLECULAR BIOLOGY OF THE CELL

Distinct Roles of RZZ and Bub1-KNL1 in Mitotic Checkpoint Signaling and Kinetochore Expansion

(2018) Jose-Antonio Rodriguez-Rodriguez et al.   CURRENT BIOLOGY

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility

(2018) Abdullah Sezer et al.   European Journal of Medical Genetics

Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients—a Systematic Review

(2017) Peter Broderick et al.   GASTROENTEROLOGY

Kinetochores accelerate or delay APC/C activation by directing Cdc20 to opposing fates

(2017) Taekyung Kim et al.   GENES & DEVELOPMENT

A Topology-Centric View on Mitotic Chromosome Architecture

(2017) et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Centrosome and spindle assembly checkpoint loss leads to neural apoptosis and reduced brain size

(2017) John S. Poulton et al.   JOURNAL OF CELL BIOLOGY

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

(2017) Shawn Yost et al.   NATURE GENETICS

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

Non-AUG start codons responsible for ABO weak blood group alleles on initiation mutant backgrounds

(2017) Emili Cid et al.   Scientific Reports

Two functionally distinct kinetochore pools of BubR1 ensure accurate chromosome segregation

(2016) Gang Zhang et al.   Nature Communications

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The kinase activity of the Ser/Thr kinase BUB1 promotes TGF-β signaling

(2015) Shyam Nyati et al.   Science Signaling

Kinetochore–microtubule attachment is sufficient to satisfy the human spindle assembly checkpoint

(2015) Banafsheh Etemad et al.   Nature Communications

The kinase activity of the Ser/Thr kinase BUB1 promotes TGF-β signaling

(2015) Shyam Nyati et al.   Science Signaling

Etiology and pathogenesis of the cohesinopathies

(2015) Musinu Zakari et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

(2014) Philippe Chetaille et al.   NATURE GENETICS

The   isoform of topoisomerase II is required for hypercompaction of mitotic chromosomes in human cells

(2014) C. J. Farr et al.   NUCLEIC ACIDS RESEARCH

Cohesin in development and disease

(2013) S. Remeseiro et al.   DEVELOPMENT

Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

(2013) Richarda M. de Voer et al.   GASTROENTEROLOGY

Centrosome amplification causes microcephaly

(2013) Véronique Marthiens et al.   NATURE CELL BIOLOGY

TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome

(2013) H. Ochiai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cohesinopathies of a Feather Flock Together

(2013) Robert V. Skibbens et al.   PLoS Genetics

Bub1 kinase activity drives error correction and mitotic checkpoint control but not tumor suppression

(2012) Robin M. Ricke et al.   JOURNAL OF CELL BIOLOGY

Phosphorylation-enabled binding of SGO1–PP2A to cohesin protects sororin and centromeric cohesion during mitosis

(2012) Hong Liu et al.   NATURE CELL BIOLOGY

Microtubule attachment and spindle assembly checkpoint signalling at the kinetochore

(2012) Emily A. Foley et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Temporal changes in Hec1 phosphorylation control kinetochore-microtubule attachment stability during mitosis

(2011) K. F. DeLuca et al.   JOURNAL OF CELL SCIENCE

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

(2011) Katie Snape et al.   NATURE GENETICS

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

(2010) Petra van der Lelij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reduced expression of Mad2 and Bub1 proteins is associated with spontaneous miscarriages

(2010) Qiong Shi et al.   MOLECULAR HUMAN REPRODUCTION

BUB1 and BUBR1: multifaceted kinases of the cell cycle

(2010) Victor M. Bolanos-Garcia et al.   TRENDS IN BIOCHEMICAL SCIENCES

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome

(2009) Paola Castronovo et al.   CHROMOSOME RESEARCH

Bub1 regulates chromosome segregation in a kinetochore-independent manner

(2009) Christiane Klebig et al.   JOURNAL OF CELL BIOLOGY

Phosphorylation of H2A by Bub1 Prevents Chromosomal Instability Through Localizing Shugoshin

(2009) S. A. Kawashima et al.   SCIENCE

Impaired Bub1 Function In vivo Compromises Tension-Dependent Checkpoint Function Leading to Aneuploidy and Tumorigenesis

(2008) M. Schliekelman et al.   CANCER RESEARCH