Cornelia de Lange syndrome, cohesin, and beyond

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Clinical Genetics

• Publication date

  2009-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/j.1399-0004.2009.01271.xPMID 19793304PMCID PMC2853897
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Sir2 Paralogues Cooperate to Regulate Virulence Genes and Antigenic Variation in Plasmodium falciparum

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• Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

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• On the Molecular Etiology of Cornelia de Lange Syndrome

  2009influential reference
• Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

  2009cited by this paper
• Stable Isotope Metabolic Labeling with a Novel 15N-Enriched Bacteria Diet for Improved Proteomic Analyses of Mouse Models for Psychopathologies

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• Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies

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• Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome

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• Expression of various types of alternatively spliced WAPL transcripts in human cervical epithelia.

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

  2008influential reference
• Eco1-Dependent Cohesin Acetylation During Establishment of Sister Chromatid Cohesion

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• Cohesin mediates transcriptional insulation by CCCTC-binding factor

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• Cell-Type-Specific TEV Protease Cleavage Reveals Cohesin Functions in Drosophila Neurons

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• Loss of ATRX leads to chromosome cohesion and congression defects

  2008influential reference
• Overexpression of Separase induces aneuploidy and mammary tumorigenesis

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• A Molecular Determinant for the Establishment of Sister Chromatid Cohesion

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• Cohesin and CTCF: cooperating to control chromosome conformation?

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• Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers

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• Cohesins functionally associate with CTCF on mammalian chromosome arms.

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• Sister chromatid cohesion: a simple concept with a complex reality.

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• The cohesin complex and its roles in chromosome biology.

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• Fork it over: the cohesion establishment factor Ctf7p and DNA replication

  2007cited by this paper
• The origin recognition complex functions in sister-chromatid cohesion in Saccharomyces cerevisiae.

  2007cited by this paper
• Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

  2007cited by this paper
• Natural history of aging in Cornelia de Lange syndrome

  2007cited by this paper
• Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.

  2007cited by this paper
• CTCF Interacts with and Recruits the Largest Subunit of RNA Polymerase II to CTCF Target Sites Genome-Wide

  2007cited by this paper
• Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

  2007influential reference
• Unscheduled overexpression of human WAPL promotes chromosomal instability.

  2007influential reference
• Comprehensive Expression Profiling of Tumor Cell Lines Identifies Molecular Signatures of Melanoma Progression

  2007cited by this paper
• Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome

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• Super-Genotype: Global Monoclonality Defies the Odds of Nature

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• Sister chromatid cohesion: the cohesin cleavage model does not ring true

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• Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes

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• Gender Differences in Publication Output: Towards an Unbiased Metric of Research Performance

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• Evidence that loading of cohesin onto chromosomes involves opening of its SMC hinge.

  2006cited by this paper
• X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

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• CTCF Mediates Interchromosomal Colocalization Between Igf2/H19 and Wsb1/Nf1

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• CTCF-dependent chromatin insulator is linked to epigenetic remodeling.

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• Condensin is required for chromosome arm cohesion during mitosis.

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• Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome

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• Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

  2005cited by this paper
• Shugoshin Prevents Dissociation of Cohesin from Centromeres During Mitosis in Vertebrate Cells

  2005cited by this paper
• Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

  2005cited by this paper
• Unzipped and loaded

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• Epithelial re-organization and dynamics of progression through mitosis in Drosophila separase complex mutants

  2005cited by this paper
• Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

  2005cited by this paper
• The structure and function of SMC and kleisin complexes.

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• The human papillomavirus E6 and E7 inducible oncogene, hWAPL, exhibits potential as a therapeutic target

  2005influential reference
• Rings, bracelet or snaps: fashionable alternatives for Smc complexes

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• Targeting of cohesin by transcriptionally silent chromatin.

  2005cited by this paper
• Dissociation of Cohesin from Chromosome Arms and Loss of Arm Cohesion during Early Mitosis Depends on Phosphorylation of SA2

  2005cited by this paper
• Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

  2005cited by this paper
• Ophthalmologic findings in the Cornelia de Lange Syndrome.

  2005cited by this paper
• Sister chromatid cohesion along arms and at centromeres.

  2005cited by this paper
• Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts

  2005cited by this paper
• Anomalies of the kidney and urinary tract are common in de Lange syndrome

  2005cited by this paper
• The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome.

  2005cited by this paper
• Structure and stability of cohesin's Smc1-kleisin interaction.

  2004cited by this paper
• Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

  2004cited by this paper
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  2004cited by this paper
• NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

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  2004cited by this paper
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• NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

  2004cited by this paper
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  2003cited by this paper
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  2003cited by this paper
• ATP hydrolysis is required for cohesin's association with chromosomes.

  2003cited by this paper
• Distinct Cohesin Complexes Organize Meiotic Chromosome Domains

  2003cited by this paper
• Two putative acetyltransferases, san and deco, are required for establishing sister chromatid cohesion in Drosophila.

  2003cited by this paper
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• Management of Genetic Syndromes

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• The dissociation of cohesin from chromosomes in prophase is regulated by Polo-like kinase.

  2002cited by this paper
• Neuropathological analysis of an adult case of the Cornelia de Lange syndrome

  2002cited by this paper
• Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome.

  2002cited by this paper
• Molecular architecture of SMC proteins and the yeast cohesin complex.

  2002cited by this paper
• A chromatin remodelling complex that loads cohesin onto human chromosomes

  2002cited by this paper
• cis-acting DNA from fission yeast centromeres mediates histone H3 methylation and recruitment of silencing factors and cohesin to an ectopic site.

  2002cited by this paper

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• A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes.

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• ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome

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• Generating Surprisingly Powerful Pharmacology from Chemically Induced Protein Interactions.

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• Cohesin and condensin regulate chromosome topology and play an essential role in maintaining pluripotency in embryonic stem cells

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• A Review on Cornelia De Lange Syndrome

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• Cornelia de Lange Sendromlu Çocukta Sensory Activation Solutions (SAS) Müzik Dinleti Programı Uygulamasının Bilişsel Seviye Üzerine Etkisi

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• Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report

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• Genetic and Genomic Analyses of Drosophila melanogaster Models of Chromatin Modification Disorders

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• Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

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• Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder

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