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Sylvia A. Huisman et al.
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Germline mosaicism in Cornelia de Lange syndrome
Thomas P. Slavin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
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EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Silvia Russo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Matthew A. Deardorff et al.
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In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex
Vladimir P. Bermudez et al.
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Cohesin Selectively Binds and Regulates Genes with Paused RNA Polymerase
Avery Fay et al.
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A role for cohesin in T-cell-receptor rearrangement and thymocyte differentiation
Vlad C. Seitan et al.
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Polycomb purification by in vivo biotinylation tagging reveals cohesin and Trithorax group proteins as interaction partners
Gero Struebbe et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Mutations and Variants in the Cohesion Factor Genes NIPBL, SMC1A, and SMC3 in a Cohort of 30 Unrelated Patients With Cornelia de Lange Syndrome
Juan Pie et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
CTCF shapes chromatin by multiple mechanisms: the impact of 20 years of CTCF research on understanding the workings of chromatin
Rolf Ohlsson et al.
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YEAR IN HUMAN AND MEDICAL GENETICS 2009 (2009)
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome
Paola Castronovo et al.
CHROMOSOME RESEARCH (2009)
Cornelia de Lange syndrome, cohesin, and beyond
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CLINICAL GENETICS (2009)
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
Ekaterina Revenkova et al.
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Cohesin acetylation speeds the replication fork
Marie-Emilie Terret et al.
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Regulation of the Drosophila Enhancer of split and invected-engrailed Gene Complexes by Sister Chromatid Cohesion Proteins
Cheri A. Schaaf et al.
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Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
Jinglan Liu et al.
PLOS BIOLOGY (2009)
Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl+/- Mouse, a Model of Cornelia de Lange Syndrome
Shimako Kawauchi et al.
PLOS GENETICS (2009)
Cohesin and Human Disease
Jinglan Liu et al.
Annual Review of Genomics and Human Genetics (2008)
Cohesins functionally associate with CTCF on mammalian chromosome arms
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Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators
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EMBO JOURNAL (2008)
Acetylation of Smc3 by Eco1 is required for S phase sister chromatid cohesion in both human and yeast
Jinglan Zhang et al.
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Cohesin mediates transcriptional insulation by CCCTC-binding factor
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The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications
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The Drosophila cohesin subunit Rad21 is a trithorax group (trxG) protein
Graham Hallson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
CTCF physically links cohesin to chromatin
Eric D. Rubio et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome
Ziva Misulovin et al.
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Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
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CLINICAL GENETICS (2007)
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
Antonie D. Kline et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
Matthew A. Deardorff et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Jacqueline Schoumans et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes
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CHROMOSOMA (2007)
Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
Dau-Ming Niu et al.
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Father-to,Daughter transmission of Cornelia de Lange syndrome caused by a mutationin the 5′ untranslated region of the NIPBL gene
Guntram Borck et al.
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Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance
Vlad C. Seitan et al.
PLOS BIOLOGY (2006)
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
Jiong Yan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression
Erwan Watrin et al.
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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
A Musio et al.
NATURE GENETICS (2006)
Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome
R Hulinsky et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Drosophila Nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene
RA Rollins et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
LA Gillis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Scc2 couples replication licensing to sister chromatid chromatid in Xenopus egg extracts
PJ Gillespie et al.
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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
ET Tonkin et al.
NATURE GENETICS (2004)
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
ID Krantz et al.
NATURE GENETICS (2004)
Recruitment of Xenopus Scc2 and cohesin to chromatin requires the pre-replication complex
TS Takahashi et al.
NATURE CELL BIOLOGY (2004)
Bimodal activation of SMC ATPase by intra- and inter-molecular interactions
M Hirano et al.
EMBO JOURNAL (2001)
HEAT repeats associated with condensins, cohesins, and other complexes involved in chromosome-related functions
AF Neuwald et al.
GENOME RESEARCH (2000)
Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins
R Ciosk et al.
MOLECULAR CELL (2000)
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