Familial STAG2 germline mutation defines a new human cohesinopathy

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

(2016) Gail P. Jarvik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mycobacterium tuberculosis whole genome sequencing and protein structure modelling provides insights into anti-tuberculosis drug resistance

(2016) Jody Phelan et al.   BMC Medicine

Structural Basis and IP 6 Requirement for Pds5-Dependent Cohesin Dynamics

(2016) Zhuqing Ouyang et al.   MOLECULAR CELL

mCSM-AB: a web server for predicting antibody–antigen affinity changes upon mutation with graph-based signatures

(2016) Douglas E.V. Pires et al.   NUCLEIC ACIDS RESEARCH

CSM-lig: a web server for assessing and comparing protein–small molecule affinities

(2016) Douglas E.V. Pires et al.   NUCLEIC ACIDS RESEARCH

mCSM-lig: quantifying the effects of mutations on protein-small molecule affinity in genetic disease and emergence of drug resistance

(2016) Douglas E. V. Pires et al.   Scientific Reports

In silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activity

(2016) Douglas E. V. Pires et al.   Scientific Reports

Esco1 Acetylates Cohesin via a Mechanism Different from That of Esco2

(2015) Masashi Minamino et al.   CURRENT BIOLOGY

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

(2015) Martina Nemethova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

(2015) Raman Kumar et al.   HUMAN MOLECULAR GENETICS

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

Flexibility and small pockets at protein–protein interfaces: New insights into druggability

(2015) Harry Jubb et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma

(2015) M. Jafri et al.   Cancer Discovery

Cohesin gene mutations in tumorigenesis: from discovery to clinical significance

(2014) David A. Solomon et al.   BMB Reports

Cohesin and Its Regulation: On the Logic of X-Shaped Chromosomes

(2014) Judith H.I. Haarhuis et al.   DEVELOPMENTAL CELL

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2014) Philippe Chetaille et al.   NATURE GENETICS

Structure of cohesin subcomplex pinpoints direct shugoshin-Wapl antagonism in centromeric cohesion

(2014) Kodai Hara et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Platinum: a database of experimentally measured effects of mutations on structurally defined protein–ligand complexes

(2014) Douglas E.V. Pires et al.   NUCLEIC ACIDS RESEARCH

DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach

(2014) D. E. V. Pires et al.   NUCLEIC ACIDS RESEARCH

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

CTCF and Cohesin: Linking Gene Regulatory Elements with Their Targets

(2013) Matthias Merkenschlager et al.   CELL

Cohesin in development and disease

(2013) S. Remeseiro et al.   DEVELOPMENT

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

(2013) Linda Mannini et al.   HUMAN MUTATION

Biochemical reconstitution of topological DNA binding by the cohesin ring

(2013) Yasuto Murayama et al.   NATURE

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

(2012) Hong Liu et al.   NATURE CELL BIOLOGY

The Smc complexes in DNA damage response

(2012) Nan Wu et al.   Cell and Bioscience

Sororin Mediates Sister Chromatid Cohesion by Antagonizing Wapl

(2010) Tomoko Nishiyama et al.   CELL

Cohesinopathies, gene expression, and chromatin organization

(2010) Tania Bose et al.   JOURNAL OF CELL BIOLOGY

Cohesin: Its Roles and Mechanisms

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

Releasing cohesin from chromosome arms in early mitosis: opposing actions of Wapl-Pds5 and Sgo1

(2009) K. Shintomi et al.   GENES & DEVELOPMENT

Building Sister Chromatid Cohesion: Smc3 Acetylation Counteracts an Antiestablishment Activity

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

Sister Chromatid Cohesion: A Simple Concept with a Complex Reality

(2008) Itay Onn et al.   Annual Review of Cell and Developmental Biology

The cohesin complex and its roles in chromosome biology

(2008) J.-M. Peters et al.   GENES & DEVELOPMENT

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

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