Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility

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

(2022) Sara Carvalhal et al.   Science Advances

Molecular mechanism of Mad1 kinetochore targeting by phosphorylated Bub1

(2021) Elyse S Fischer et al.   EMBO REPORTS

Cell competition removes segmental aneuploid cells from Drosophila imaginal disc-derived tissues based on ribosomal protein gene dose

(2021) Zhejun Ji et al.   eLife

Integrated analysis of multimodal single-cell data

(2021) Yuhan Hao et al.   CELL

Aneuploid senescent cells activate NF‐κB to promote their immune clearance by NK cells

(2021) Ruoxi W Wang et al.   EMBO REPORTS

Spindle assembly checkpoint activation and silencing at kinetochores

(2021) Pablo Lara-Gonzalez et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Protective Mechanism of Humanin Against Oxidative Stress in Aging-Related Cardiovascular Diseases

(2021) He Cai et al.   Frontiers in Endocrinology

The role of humanin in natural stress tolerance: An underexplored therapeutic avenue

(2021) Sanoji Wijenayake et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype

(2021) Fernando Santos-Simarro et al.   European Journal of Medical Genetics

Time is of the essence: the molecular mechanisms of primary microcephaly

(2021) Thao P. Phan et al.   GENES & DEVELOPMENT

CellPhoneDB: inferring cell–cell communication from combined expression of multi-subunit ligand–receptor complexes

(2020) Mirjana Efremova et al.   Nature Protocols

The Role of Mitochondria in Inflammation: From Cancer to Neurodegenerative Disorders

(2020) Sonia Missiroli et al.   Journal of Clinical Medicine

Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions

(2020) Mara Dierssen et al.   Frontiers in Neuroscience

Mad1 destabilizes p53 by preventing PML from sequestering MDM2

(2019) Jun Wan et al.   Nature Communications

Context is everything: aneuploidy in cancer

(2019) Uri Ben-David et al.   NATURE REVIEWS GENETICS

Exhaustion and senescence: two crucial dysfunctional states of T cells in the tumor microenvironment

(2019) Yangjing Zhao et al.   Cellular & Molecular Immunology

Mitochondrial Damage-Associated Molecular Patterns: From Inflammatory Signaling to Human Diseases

(2018) Serge Grazioli et al.   Frontiers in Immunology

Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression

(2018) Khaled Aziz et al.   JOURNAL OF CLINICAL INVESTIGATION

The diverse consequences of aneuploidy

(2018) Narendra Kumar Chunduri et al.   NATURE CELL BIOLOGY

Mad1 influences interphase nucleoplasm organization and chromatin regulation in Drosophila

(2018) Natacha Raich et al.   Open Biology

Direct interactions of mitotic arrest deficient 1 (MAD1) domains with each other and MAD2 conformers are required for mitotic checkpoint signaling

(2017) Wenbin Ji et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Basis of catalytic assembly of the mitotic checkpoint complex

(2017) Alex C. Faesen et al.   NATURE

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

(2017) Shawn Yost et al.   NATURE GENETICS

Tumor aneuploidy correlates with markers of immune evasion and with reduced response to immunotherapy

(2017) Teresa Davoli et al.   SCIENCE

Molecular basis of APC/C regulation by the spindle assembly checkpoint

(2016) Claudio Alfieri et al.   NATURE

FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing

(2016) Ronglai Shen et al.   NUCLEIC ACIDS RESEARCH

Developing Molecular Signatures for Chronic Lymphocytic Leukemia

(2015) Edouard Cornet et al.   PLoS One

Nuclear Pores Protect Genome Integrity by Assembling a Premitotic and Mad1-Dependent Anaphase Inhibitor

(2014) Veronica Rodriguez-Bravo et al.   CELL

A Golgi-Localized Pool of the Mitotic Checkpoint Component Mad1 Controls Integrin Secretion and Cell Migration

(2014) Jun Wan et al.   CURRENT BIOLOGY

A direct role of Mad1 in the spindle assembly checkpoint beyond Mad2 kinetochore recruitment

(2014) T. Kruse et al.   EMBO REPORTS

Mad1 contribution to spindle assembly checkpoint signalling goes beyond presenting Mad2 at kinetochores

(2014) S. Heinrich et al.   EMBO REPORTS

Single-cell RNA-seq highlights intratumoral heterogeneity in primary glioblastoma

(2014) A. P. Patel et al.   SCIENCE

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome

(2013) Lucile Pinson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cohesin in development and disease

(2013) S. Remeseiro et al.   DEVELOPMENT

Global analysis of genome, transcriptome and proteome reveals the response to aneuploidy in human cells

(2012) Silvia Stingele et al.   Molecular Systems Biology

Human aneuploidy: mechanisms and new insights into an age-old problem

(2012) So I. Nagaoka et al.   NATURE REVIEWS GENETICS

Structure of human Mad1 C-terminal domain reveals its involvement in kinetochore targeting

(2012) S. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptional consequences of aneuploidy

(2012) J. M. Sheltzer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NOTCH1 mutations in CLL associated with trisomy 12

(2011) V. Balatti et al.   BLOOD

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

(2011) Katie Snape et al.   NATURE GENETICS

HomozygousBUB1BMutation and Susceptibility to Gastrointestinal Neoplasia

(2010) Thomas Rio Frio et al.   NEW ENGLAND JOURNAL OF MEDICINE

Constitutional aneuploidy and cancer predisposition

(2009) I. Ganmore et al.   HUMAN MOLECULAR GENETICS

B-Cell Clones as Early Markers for Chronic Lymphocytic Leukemia

(2009) Ola Landgren et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: Delineation of clinical subtypes

(2008) Herbert García‐Castillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Aneuploidy Affects Proliferation and Spontaneous Immortalization in Mammalian Cells

(2008) B. R. Williams et al.   SCIENCE