Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

High rate of mosaicism in individuals with Cornelia de Lange syndrome

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

RAD21 Mutations Cause a Human Cohesinopathy

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

Cohesin-SA1 deficiency drives aneuploidy and tumourigenesis in mice due to impaired replication of telomeres

(2012) Silvia Remeseiro et al.   EMBO JOURNAL

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

X-exome sequencing identifies aHDAC8variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

(2012) Magdalena Harakalova et al.   JOURNAL OF MEDICAL GENETICS

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

(2012) Matthew A. Deardorff et al.   NATURE

On the function of the internal cavity of histone deacetylase protein 8: R37 is a crucial residue for catalysis

(2011) Shozeb Haider et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Structure, mechanism, and inhibition of histone deacetylases and related metalloenzymes

(2011) Patrick M Lombardi et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Structural Basis of the Antiproliferative Activity of Largazole, a Depsipeptide Inhibitor of the Histone Deacetylases

(2011) Kathryn E. Cole et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

(2010) Sarika Rohatgi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations and variants in the cohesion factor genesNIPBL,SMC1A, andSMC3in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

(2010) Juan Pié et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hos1 Is a Lysine Deacetylase for the Smc3 Subunit of Cohesin

(2010) Bo Xiong et al.   CURRENT BIOLOGY

Hos1 Deacetylates Smc3 to Close the Cohesin Acetylation Cycle

(2010) Vanessa Borges et al.   MOLECULAR CELL

An Smc3 Acetylation Cycle Is Essential for Establishment of Sister Chromatid Cohesion

(2010) Frederic Beckouët et al.   MOLECULAR CELL

Rad21-Cohesin Haploinsufficiency Impedes DNA Repair and Enhances Gastrointestinal Radiosensitivity in Mice

(2010) Huiling Xu et al.   PLoS One

Cohesin: Its Roles and Mechanisms

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

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

(2009) Takashi Sutani et al.   CURRENT BIOLOGY

Epigenetic control of skull morphogenesis by histone deacetylase 8

(2009) M. Haberland et al.   GENES & DEVELOPMENT

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

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

Structural Studies of Human Histone Deacetylase 8 and Its Site-Specific Variants Complexed with Substrate and Inhibitors†,‡

(2008) Daniel P. Dowling et al.   BIOCHEMISTRY

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