An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2

(2020) Piranit Nik Kantaputra et al.   EUROPEAN JOURNAL OF ORTHODONTICS

PCNA promotes context-specific sister chromatid cohesion establishment separate from that of chromatin condensation

(2020) Caitlin M. Zuilkoski et al.   CELL CYCLE

Cohesin subunit RAD21: From biology to disease

(2020) Haizi Cheng et al.   GENE

Cul4-Ddb1 ubiquitin ligases facilitate DNA replication-coupled sister chromatid cohesion through regulation of cohesin acetyltransferase Esco2

(2019) Haitao Sun et al.   PLoS Genetics

Condensins and cohesins – one of these things is not like the other!

(2019) Robert V. Skibbens   JOURNAL OF CELL SCIENCE

Increased levels of superoxide dismutase suppress meiotic segregation errors in aging oocytes

(2019) Adrienne T. Perkins et al.   CHROMOSOMA

The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis

(2019) Julia do Amaral Gomes et al.   Scientific Reports

The replicative helicase MCM recruits cohesin acetyltransferase ESCO2 to mediate centromeric sister chromatid cohesion

(2018) Miroslav P Ivanov et al.   EMBO JOURNAL

Temporal Regulation of ESCO2 Degradation by the MCM Complex, the CUL4-DDB1-VPRBP Complex, and the Anaphase-Promoting Complex

(2018) Masashi Minamino et al.   CURRENT BIOLOGY

Lack of superoxide dismutase in a rad51 mutant exacerbates genomic instability and oxidative stress-mediated cytotoxicity in Saccharomyces cerevisiae

(2018) Ji Eun Choi et al.   FREE RADICAL BIOLOGY AND MEDICINE

A Roberts Syndrome individual with differential genotoxin sensitivity and a DNA damage response defect

(2018) Michael J. McKay et al.   INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome

(2017) Imène Boudaoud et al.   GENETICS

Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome

(2017) Imène Boudaoud et al.   GENETICS

Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome

(2017) Rajeswari Banerji et al.   Biology Open

Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome

(2016) Baoshan Xu et al.   BMC GENOMICS

Yap1 and Skn7 genetically interact with Rad51 in response to oxidative stress and DNA double-strand break in Saccharomyces cerevisiae

(2016) Dae Gwan Yi et al.   FREE RADICAL BIOLOGY AND MEDICINE

Oxidative stress in oocytes during midprophase induces premature loss of cohesion and chromosome segregation errors

(2016) Adrienne T. Perkins et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A global genetic interaction network maps a wiring diagram of cellular function

(2016) M. Costanzo et al.   SCIENCE

Thalidomide-induced teratogenesis: History and mechanisms

(2015) Neil Vargesson   BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS

Esco2 regulatescx43expression during skeletal regeneration in the zebrafish fin

(2015) Rajeswari Banerji et al.   DEVELOPMENTAL DYNAMICS

Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome

(2015) S. M. Percival et al.   Disease Models & Mechanisms

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

(2015) Bo Yuan et al.   JOURNAL OF CLINICAL INVESTIGATION

Cohesin recruits the Esco1 acetyltransferase genome wide to repress transcription and promote cohesion in somatic cells

(2015) Sadia Rahman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome

(2015) Linda Mannini et al.   Scientific Reports

The cohesin acetyltransferase Eco1 coordinates rDNA replication and transcription

(2014) S. Lu et al.   EMBO REPORTS

Chromosome Segregation in Budding Yeast: Sister Chromatid Cohesion and Related Mechanisms

(2014) Adele L. Marston   GENETICS

The maintenance of chromosome structure: positioning and functioning of SMC complexes

(2014) Kristian Jeppsson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome

(2013) Silvia Remeseiro et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Human Cytochrome P450 Oxidation of 5-Hydroxythalidomide and Pomalidomide, an Amino Analogue of Thalidomide

(2013) Goutam Chowdhury et al.   CHEMICAL RESEARCH IN TOXICOLOGY

Cohesin at active genes: a unifying theme for cohesin and gene expression from model organisms to humans

(2013) Dale Dorsett et al.   CURRENT OPINION IN CELL BIOLOGY

Cohesion promotes nucleolar structure and function

(2013) Bethany Harris et al.   MOLECULAR BIOLOGY OF THE CELL

Cisplatin Induces a Mitochondrial-ROS Response That Contributes to Cytotoxicity Depending on Mitochondrial Redox Status and Bioenergetic Functions

(2013) Rossella Marullo et al.   PLoS One

Stimulation of mTORC1 with L-leucine Rescues Defects Associated with Roberts Syndrome

(2013) Baoshan Xu et al.   PLoS Genetics

Cohesinopathies of a Feather Flock Together

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

RAD21 Mutations Cause a Human Cohesinopathy

(2012) Matthew A. Deardorff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes)

(2012) Akihiro Morita et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

(2012) Matthew A. Deardorff et al.   NATURE

Genome-wide ribosome profiling reveals complex translational regulation in response to oxidative stress

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

DNA damage induces reactive oxygen species generation through the H2AX-Nox1/Rac1 pathway

(2012) M A Kang et al.   Cell Death & Disease

Cohesin Proteins Promote Ribosomal RNA Production and Protein Translation in Yeast and Human Cells

(2012) Tania Bose et al.   PLoS Genetics

Translational mechanisms at work in the cohesinopathies

(2012) Jennifer L. Gerton   Nucleus

Cohesins coordinate gene transcriptions of related function withinSaccharomyces cerevisiae

(2011) Robert V. Skibbens et al.   CELL CYCLE

Esco2 promotes neuronal differentiation by repressing Notch signaling

(2011) Young-Eun Leem et al.   CELLULAR SIGNALLING

Cohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatin

(2011) Gabriela Whelan et al.   EMBO JOURNAL

A Zebrafish Model of Roberts Syndrome Reveals That Esco2 Depletion Interferes with Development by Disrupting the Cell Cycle

(2011) Maren Mönnich et al.   PLoS One

The Roberts syndrome

(2010) Mahlon V. R. Freeman et al.   CLINICAL GENETICS

Systematic Reduction of Cohesin Differentially Affects Chromosome Segregation, Condensation, and DNA Repair

(2010) Jill M. Heidinger-Pauli et al.   CURRENT BIOLOGY

Gene Regulation: The Cohesin Ring Connects Developmental Highways

(2010) Dale Dorsett   CURRENT BIOLOGY

Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved

(2010) Jenny M. Rhodes et al.   DEVELOPMENTAL BIOLOGY

Roberts/Pseudothalidomide Syndrome and Normal Intelligence: Approaches'to Diagnosis and Management

(2010) Kenton R. Holden et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Blood-Based Detection of Radiation Exposure in Humans Based on Novel Phospho-Smc1 ELISA

(2010) Richard G. Ivey et al.   RADIATION RESEARCH

Mitochondrial reactive oxygen species regulate cellular signaling and dictate biological outcomes

(2010) Robert B. Hamanaka et al.   TRENDS IN BIOCHEMICAL SCIENCES

Budding Yeast Wpl1(Rad61)-Pds5 Complex Counteracts Sister Chromatid Cohesion-Establishing Reaction

(2009) Takashi Sutani et al.   CURRENT BIOLOGY

The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells

(2009) Erwan Watrin et al.   EMBO JOURNAL

Cohesinopathy mutations disrupt the subnuclear organization of chromatin

(2009) Scarlett Gard et al.   JOURNAL OF CELL BIOLOGY

Distinct Targets of the Eco1 Acetyltransferase Modulate Cohesion in S Phase and in Response to DNA Damage

(2009) Jill M. Heidinger-Pauli et al.   MOLECULAR CELL

Building Sister Chromatid Cohesion: Smc3 Acetylation Counteracts an Antiestablishment Activity

(2009) Benjamin D. Rowland et al.   MOLECULAR CELL

The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2

(2009) Petra van der Lelij et al.   PLoS One

Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl+/− Mouse, a Model of Cornelia de Lange Syndrome

(2009) Shimako Kawauchi et al.   PLoS Genetics

Esco2 is a novel corepressor that associates with various chromatin modifying enzymes

(2008) Beom-Jun Kim et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

DNA damage-induced reactive oxygen species (ROS) stress response in Saccharomyces cerevisiae

(2008) Lori A. Rowe et al.   FREE RADICAL BIOLOGY AND MEDICINE

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

(2008) Miriam Gordillo et al.   HUMAN MOLECULAR GENETICS

Hypoxic Reactive Oxygen Species Regulate the Integrated Stress Response and Cell Survival

(2008) Liping Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Acetylation of Smc3 by Eco1 Is Required for S Phase Sister Chromatid Cohesion in Both Human and Yeast

(2008) Jinglan Zhang et al.   MOLECULAR CELL

The cohesin ring concatenates sister DNA molecules

(2008) Christian H. Haering et al.   NATURE

A Molecular Determinant for the Establishment of Sister Chromatid Cohesion

(2008) E. U nal et al.   SCIENCE

Eco1-Dependent Cohesin Acetylation During Establishment of Sister Chromatid Cohesion

(2008) T. R. Ben-Shahar et al.   SCIENCE