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

Cohesin and chromosome segregation

(2018) Vasso Makrantoni et al.   CURRENT BIOLOGY

Transcriptional regulation of the cardiac conduction system

(2018) Vincent W. W. van Eif et al.   Nature Reviews Cardiology

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

(2018) Antonie D. Kline et al.   NATURE REVIEWS GENETICS

Developmental Origin of the Cardiac Conduction System: Insight from Lineage Tracing

(2018) Rajiv A. Mohan et al.   PEDIATRIC CARDIOLOGY

NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states

(2018) Jason A. Mills et al.   Scientific Reports

Critical role of mitosis in spontaneous late-onset Alzheimer’s disease; from a Shugoshin 1 cohesinopathy mouse model

(2018) Chinthalapally V. Rao et al.   CELL CYCLE

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

(2018) Bo Yuan et al.   GENETICS IN MEDICINE

The Emerging Role of Cohesin in the DNA Damage Response

(2018) Ireneusz Litwin et al.   Genes

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

(2018) Sureni V. Mullegama et al.   Molecular Genetics & Genomic Medicine

Characterization of Sgo1 expression in developing and adult mouse

(2017) Andrew T. Song et al.   GENE EXPRESSION PATTERNS

Cohesin is positioned in mammalian genomes by transcription, CTCF and Wapl

(2017) Georg A. Busslinger et al.   NATURE

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

(2017) Laila C. Schenkel et al.   Epigenetics & Chromatin

Familial STAG2 germline mutation defines a new human cohesinopathy

(2017) Fernanda C. Soardi et al.   npj Genomic Medicine

Whole Chromosome Instability induces senescence and promotes SASP

(2016) Grasiella Angelina Andriani et al.   Scientific Reports

Reading between the Lines: “ADD”-ing Histone and DNA Methylation Marks toward a New Epigenetic “Sum”

(2015) Kyung-Min Noh et al.   ACS Chemical Biology

Tumor-promoting/progressing role of additional chromosome instability in hepatic carcinogenesis in Sgo1 (Shugoshin 1) haploinsufficient mice

(2015) Hiroshi Y. Yamada et al.   CARCINOGENESIS

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

(2015) Elena Bonora et al.   GASTROENTEROLOGY

IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

(2015) Raman Kumar et al.   HUMAN MOLECULAR GENETICS

Antagonizing pathways leading to differential dynamics in colon carcinogenesis in Shugoshin1 (Sgo1)-haploinsufficient chromosome instability model

(2015) Chinthalapally V. Rao et al.   MOLECULAR CARCINOGENESIS

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

(2015) Kosuke Izumi et al.   NATURE GENETICS

The role of theSCN5A-encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders

(2015) T. E. Verstraelen et al.   NEUROGASTROENTEROLOGY AND MOTILITY

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

(2015) Shyam Nyati et al.   Science Signaling

A cohesin–OCT4 complex mediates Sox enhancers to prime an early embryonic lineage

(2015) Nesrine Abboud et al.   Nature Communications

An Alternatively Spliced Bifunctional Localization Signal Reprograms Human Shugoshin 1 to Protect Centrosomal Instead of Centromeric Cohesin

(2015) Lisa Mohr et al.   Cell Reports

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

(2015) Shyam Nyati et al.   Science Signaling

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

(2014) Morad Ansari et al.   JOURNAL OF MEDICAL GENETICS

The Scc2–Scc4 complex acts in sister chromatid cohesion and transcriptional regulation by maintaining nucleosome-free regions

(2014) Lidia Lopez-Serra et al.   NATURE GENETICS

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

(2014) Philippe Chetaille et al.   NATURE GENETICS

The origin of segmentation motor activity in the intestine

(2014) Jan D. Huizinga et al.   Nature Communications

Nipbl and Mediator Cooperatively Regulate Gene Expression to Control Limb Development

(2014) Akihiko Muto et al.   PLoS Genetics

A Cohesin-Independent Role for NIPBL at Promoters Provides Insights in CdLS

(2014) Jessica Zuin et al.   PLoS Genetics

Architectural Protein Subclasses Shape 3D Organization of Genomes during Lineage Commitment

(2013) Jennifer E. Phillips-Cremins et al.   CELL

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

Cohesin: Functions beyond sister chromatid cohesion

(2013) Gunjan D. Mehta et al.   FEBS LETTERS

Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

(2013) Linda Mannini et al.   HUMAN MUTATION

Frameshift mutations of chromosome cohesion–related genes SGOL1 and PDS5B in gastric and colorectal cancers with high microsatellite instability

(2013) Min Sung Kim et al.   HUMAN PATHOLOGY

High rate of mosaicism in individuals with Cornelia de Lange syndrome

(2013) Sylvia A Huisman et al.   JOURNAL OF MEDICAL GENETICS

Genome-Wide Control of RNA Polymerase II Activity by Cohesin

(2013) Cheri A. Schaaf et al.   PLoS Genetics

Amyloid imaging in cognitively normal individuals, at-risk populations and preclinical Alzheimer's disease

(2013) Gaël Chételat et al.   NeuroImage-Clinical

Survivin expression increases during aging and enhances the resistance of aged human fibroblasts to genotoxic stress

(2012) Huda H. Al-Khalaf et al.   AGE

RAD21 Mutations Cause a Human Cohesinopathy

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

Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

(2012) Kathryn C. Chatfield et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cardiomyocyte-specific deletion of survivin causes global cardiac conduction defects

(2012) Jan Wilko Schrickel et al.   BASIC RESEARCH IN CARDIOLOGY

Haploinsufficiency ofSGO1results in deregulated centrosome dynamics, enhanced chromosomal instability and colon tumorigenesis

(2012) Hiroshi Y. Yamada et al.   CELL CYCLE

Matrix-dependent perturbation of TGFβ signaling and disease

(2012) Jefferson J. Doyle et al.   FEBS LETTERS

Identification and Biochemical Characterization of a Novel Mutation inDDX11Causing Warsaw Breakage Syndrome

(2012) José-Mario Capo-Chichi et al.   HUMAN MUTATION

Popeye domain containing proteins are essential for stress-mediated modulation of cardiac pacemaking in mice

(2012) Alexander Froese et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2012) Matthew A. Deardorff et al.   NATURE

TGFβ signalling in context

(2012) Joan Massagué   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Shugoshins: from protectors of cohesion to versatile adaptors at the centromere

(2012) Cristina Gutiérrez-Caballero et al.   TRENDS IN GENETICS

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

(2012) Tania Bose et al.   PLoS Genetics

The Relationship Between Gastric Myoelectric Activity and Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study

(2012) Kyo Tae Jung et al.   Journal of Neurogastroenterology and Motility

Electrophysiological Mapping of Embryonic Mouse Hearts: Mechanisms for Developmental Pacemaker Switch and Internodal Conduction Pathway

(2011) TONGYIN YI et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Mitotic centromeric targeting of HP1 and its binding to Sgo1 are dispensable for sister-chromatid cohesion in human cells

(2011) Jungseog Kang et al.   MOLECULAR BIOLOGY OF THE CELL

Structural Basis for the Recognition of Phosphorylated Histone H3 by the Survivin Subunit of the Chromosomal Passenger Complex

(2011) A. Arockia Jeyaprakash et al.   STRUCTURE

Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome

(2011) Akihiko Muto et al.   PLOS BIOLOGY

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

Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions

(2010) Aaron D. Goldberg et al.   CELL

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

(2010) Magdalena Ratajska et al.   European Journal of Medical Genetics

A CTCF-independent role for cohesin in tissue-specific transcription

(2010) D. Schmidt et al.   GENOME RESEARCH

Mediator and cohesin connect gene expression and chromatin architecture

(2010) Michael H. Kagey et al.   NATURE

Cohesin: Its Roles and Mechanisms

(2009) Kim Nasmyth et al.   Annual Review of Genetics

Atrial fibrosis and atrial fibrillation: The role of the TGF-β1 signaling pathway

(2009) Felix Gramley et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Cohesinopathy mutations disrupt the subnuclear organization of chromatin

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

Interplay of Oct4 with Sox2 and Sox17: a molecular switch from stem cell pluripotency to specifying a cardiac fate

(2009) Sonia Stefanovic et al.   JOURNAL OF CELL BIOLOGY

Cardiac mast cells cause atrial fibrillation through PDGF-A–mediated fibrosis in pressure-overloaded mouse hearts

(2009) Chien-hui Liao et al.   JOURNAL OF CLINICAL INVESTIGATION

Structure and Function of the PP2A-Shugoshin Interaction

(2009) Zheng Xu et al.   MOLECULAR CELL

Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy

(2008) Yuri A. Saito et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Cohesins Functionally Associate with CTCF on Mammalian Chromosome Arms

(2008) Vania Parelho et al.   CELL

Non-Smad pathways in TGF-β signaling

(2008) Ying E Zhang   CELL RESEARCH

Survivin Determines Cardiac Function by Controlling Total Cardiomyocyte Number

(2008) Bodo Levkau et al.   CIRCULATION

Formation of the Sinus Node Head and Differentiation of Sinus Node Myocardium Are Independently Regulated by Tbx18 and Tbx3

(2008) Cornelia Wiese et al.   CIRCULATION RESEARCH

sSgo1, a Major Splice Variant of Sgo1, Functions in Centriole Cohesion Where It Is Regulated by Plk1

(2008) Xiaoxing Wang et al.   DEVELOPMENTAL CELL

Human Sgo1 downregulation leads to chromosomal instability in colorectal cancer

(2008) M Iwaizumi et al.   GUT

Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene

(2008) Bo Chang et al.   HUMAN MOLECULAR GENETICS

Regulation of Intra-S Phase Checkpoint by Ionizing Radiation (IR)-dependent and IR-independent Phosphorylation of SMC3

(2008) Hao Luo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of ATRX leads to chromosome cohesion and congression defects

(2008) Kieran Ritchie et al.   JOURNAL OF CELL BIOLOGY

Roles of interstitial cells of Cajal in regulating gastrointestinal motility:in vitro versus in vivostudies

(2008) Jieyun Yin et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

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

Cohesinopathies: One ring, many obligations

(2008) Adrian J. McNairn et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Cohesin mediates transcriptional insulation by CCCTC-binding factor

(2008) Kerstin S. Wendt et al.   NATURE