{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T21:31:10Z","timestamp":1791322270493,"version":"4.3.1"},"reference-count":59,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2009,5,1]],"date-time":"2009-05-01T00:00:00Z","timestamp":1241136000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0005232","type":"journal-article","created":{"date-parts":[[2009,4,30]],"date-time":"2009-04-30T21:40:20Z","timestamp":1241127620000},"page":"e5232","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":77,"title":["Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies"],"prefix":"10.1371","volume":"4","author":[{"given":"Bin","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jufang","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rakesh","family":"Kashyap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ezequiel","family":"Salavaggione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kulkarni","family":"Shashikant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Deardorff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L. Giovannucci","family":"Uzielli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale","family":"Dorsett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David C.","family":"Beebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick Y.","family":"Jay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert O.","family":"Heuckeroth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Krantz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Milbrandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2009,5,1]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1002\/ajmg.1320470703","article-title":"de Lange syndrome: a clinical review of 310 individuals.","volume":"47","author":"L Jackson","year":"1993","journal-title":"Am J Med Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/ng1364","article-title":"Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.","volume":"36","author":"ID Krantz","year":"2004","journal-title":"Nat Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1038\/ng1363","article-title":"NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.","volume":"36","author":"ET Tonkin","year":"2004","journal-title":"Nat Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1086\/511888","article-title":"Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.","volume":"80","author":"MA Deardorff","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1038\/ng1548","article-title":"Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.","volume":"37","author":"H Vega","year":"2005","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1086\/498695","article-title":"Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.","volume":"77","author":"B Schule","year":"2005","journal-title":"Am J Hum Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/ajmg.10066","article-title":"Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.","volume":"104","author":"KL Russell","year":"2001","journal-title":"Am J Med Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1038\/ng1779","article-title":"X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.","volume":"38","author":"A Musio","year":"2006","journal-title":"Nat Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/ajmg.1320220112","article-title":"Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance.","volume":"22","author":"LK Robinson","year":"1985","journal-title":"Am J Med Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<445::AID-AJMG12>3.0.CO;2-U","article-title":"Autosomal dominant inheritance of Brachmann-de Lange syndrome.","volume":"66","author":"C Kozma","year":"1996","journal-title":"Am J Med Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1086\/424698","article-title":"NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.","volume":"75","author":"LA Gillis","year":"2004","journal-title":"Am J Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1097\/GIM.0b013e31803183dd","article-title":"Prenatal\/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.","volume":"9","author":"F Lalatta","year":"2007","journal-title":"Genet Med"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1083\/jcb.151.3.613","article-title":"Pds5p is an essential chromosomal protein required for both sister chromatid cohesion and condensation in Saccharomyces cerevisiae.","volume":"151","author":"T Hartman","year":"2000","journal-title":"J Cell Biol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1146\/annurev.biochem.74.082803.133219","article-title":"The structure and function of SMC and kleisin complexes.","volume":"74","author":"K Nasmyth","year":"2005","journal-title":"Annu Rev Biochem"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1101\/gad.13.3.307","article-title":"Ctf7p is essential for sister chromatid cohesion and links mitotic chromosome structure to the DNA replication machinery.","volume":"13","author":"RV Skibbens","year":"1999","journal-title":"Genes Dev"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.cell.2006.09.040","article-title":"Wapl controls the dynamic association of cohesin with chromatin.","volume":"127","author":"S Kueng","year":"2006","journal-title":"Cell"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"16775","DOI":"10.1074\/jbc.M201322200","article-title":"Caspase proteolysis of the cohesin component RAD21 promotes apoptosis.","volume":"277","author":"F Chen","year":"2002","journal-title":"J Biol Chem"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"5947","DOI":"10.1242\/dev.01433","article-title":"mau-2 acts cell-autonomously to guide axonal migrations in Caenorhabditis elegans.","volume":"131","author":"CY Benard","year":"2004","journal-title":"Development"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"e242","DOI":"10.1371\/journal.pbio.0040242","article-title":"Metazoan Scc4 Homologs Link Sister Chromatid Cohesion to Cell and Axon Migration Guidance.","volume":"4","author":"VC Seitan","year":"2006","journal-title":"PLoS Biol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"2639","DOI":"10.1242\/dev.002485","article-title":"Cohesin-dependent regulation of Runx genes.","volume":"134","author":"JA Horsfield","year":"2007","journal-title":"Development"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"4743","DOI":"10.1242\/dev.02064","article-title":"Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila.","volume":"132","author":"D Dorsett","year":"2005","journal-title":"Development"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"3191","DOI":"10.1242\/dev.005884","article-title":"Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.","volume":"134","author":"B Zhang","year":"2007","journal-title":"Development"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/nature06634","article-title":"Cohesin mediates transcriptional insulation by CCCTC-binding factor.","volume":"451","author":"KS Wendt","year":"2008","journal-title":"Nature"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.devcel.2007.11.001","article-title":"piggyBac-based mosaic screen identifies a postmitotic function for cohesin in regulating developmental axon pruning.","volume":"14","author":"O Schuldiner","year":"2008","journal-title":"Dev Cell"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.devcel.2007.12.009","article-title":"Cell-type-specific TEV protease cleavage reveals cohesin functions in Drosophila neurons.","volume":"14","author":"A Pauli","year":"2008","journal-title":"Dev Cell"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/S0959-437X(99)00002-7","article-title":"Distant liaisons: long-range enhancer-promoter interactions in Drosophila.","volume":"9","author":"D Dorsett","year":"1999","journal-title":"Curr Opin Genet Dev"},{"key":"ref27","article-title":"Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome.","author":"Z Misulovin","year":"2007","journal-title":"Chromosoma"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.cell.2008.01.011","article-title":"Cohesins functionally associate with CTCF on mammalian chromosome arms.","volume":"132","author":"V Parelho","year":"2008","journal-title":"Cell"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/nature07098","article-title":"The cohesin ring concatenates sister DNA molecules.","volume":"454","author":"CH Haering","year":"2008","journal-title":"Nature"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1242\/jcs.02355","article-title":"Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts.","volume":"118","author":"A Losada","year":"2005","journal-title":"J Cell Sci"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"5779","DOI":"10.1093\/emboj\/20.20.5779","article-title":"Establishment and maintenance of sister chromatid cohesion in fission yeast by a unique mechanism.","volume":"20","author":"K Tanaka","year":"2001","journal-title":"Embo J"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S0960-9822(02)00681-4","article-title":"Eco1 is a novel acetyltransferase that can acetylate proteins involved in cohesion.","volume":"12","author":"D Ivanov","year":"2002","journal-title":"Curr Biol"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.gene.2003.12.013","article-title":"SCC-112, a novel cell cycle-regulated molecule, exhibits reduced expression in human renal carcinomas.","volume":"328","author":"D Kumar","year":"2004","journal-title":"Gene"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/S0022-3476(63)80234-6","article-title":"The Cornelia De Lange Syndrome.","volume":"63","author":"LJ Ptacek","year":"1963","journal-title":"J Pediatr"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1016\/j.cub.2006.06.068","article-title":"Live-cell imaging reveals a stable cohesin-chromatin interaction after but not before DNA replication.","volume":"16","author":"D Gerlich","year":"2006","journal-title":"Curr Biol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<434::AID-AJMG12>3.0.CO;2-H","article-title":"Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome.","volume":"71","author":"AV Mehta","year":"1997","journal-title":"Am J Med Genet"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"2729","DOI":"10.1242\/dev.024539","article-title":"Maternal depletion of CTCF reveals multiple functions during oocyte and preimplantation embryo development.","volume":"135","author":"LB Wan","year":"2008","journal-title":"Development"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.semcdb.2006.12.004","article-title":"Model systems for the study of heart development and disease. Cardiac neural crest and conotruncal malformations.","volume":"18","author":"MR Hutson","year":"2007","journal-title":"Seminars in cell & developmental biology"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"30015","DOI":"10.1074\/jbc.M606289200","article-title":"DNA binding properties of TAF1 isoforms with two AT-hooks.","volume":"281","author":"CE Metcalf","year":"2006","journal-title":"J Biol Chem"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1038\/nsb0897-657","article-title":"The solution structure of an HMG-I(Y)-DNA complex defines a new architectural minor groove binding motif.","volume":"4","author":"JR Huth","year":"1997","journal-title":"Nature structural biology"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"6716","DOI":"10.1073\/pnas.93.13.6716","article-title":"Multivalent DNA-binding properties of the HMG-1 proteins.","volume":"93","author":"JF Maher","year":"1996","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1016\/S0960-9822(00)00854-X","article-title":"Pds5 cooperates with cohesin in maintaining sister chromatid cohesion.","volume":"10","author":"S Panizza","year":"2000","journal-title":"Curr Biol"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0014-5793(96)01393-2","article-title":"Preferential condensation of SAR-DNA by histone H1 and its SPKK containing octapeptide repeat motif.","volume":"400","author":"JR Khadake","year":"1997","journal-title":"FEBS Lett"},{"key":"ref44","first-page":"259","article-title":"The mixed lineage leukemia (MLL) protein involved in 11q23 translocations contains a domain that binds cruciform DNA and scaffold attachment region (SAR) DNA.","volume":"211","author":"PL Broeker","year":"1996","journal-title":"Curr Top Microbiol Immunol"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/j.cell.2006.05.012","article-title":"SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.","volume":"125","author":"G Dobreva","year":"2006","journal-title":"Cell"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"2491","DOI":"10.1093\/hmg\/ddg248","article-title":"Identification of SATB2 as the cleft palate gene on 2q32\u2013q33.","volume":"12","author":"DR FitzPatrick","year":"2003","journal-title":"Hum Mol Genet"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1038\/nature02030","article-title":"Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.","volume":"425","author":"SJ Ansley","year":"2003","journal-title":"Nature"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1126\/science.1063525","article-title":"Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.","volume":"293","author":"N Katsanis","year":"2001","journal-title":"Science"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1086\/302329","article-title":"Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.","volume":"64","author":"A Auricchio","year":"1999","journal-title":"Am J Hum Genet"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/ajmg.c.30137","article-title":"Natural history of aging in Cornelia de Lange syndrome.","volume":"145C","author":"AD Kline","year":"2007","journal-title":"American journal of medical genetics"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1093\/hmg\/4.5.821","article-title":"Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.","volume":"4","author":"M Angrist","year":"1995","journal-title":"Hum Mol Genet"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"5503","DOI":"10.1242\/dev.01421","article-title":"Mice expressing a dominant-negative Ret mutation phenocopy human Hirschsprung disease and delineate a direct role of Ret in spermatogenesis.","volume":"131","author":"S Jain","year":"2004","journal-title":"Development"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1002\/bies.20787","article-title":"Cohesin and CTCF: cooperating to control chromosome conformation?","volume":"30","author":"M Gause","year":"2008","journal-title":"Bioessays"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/ng1491","article-title":"Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.","volume":"37","author":"S Horike","year":"2005","journal-title":"Nat Genet"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1083\/jcb.200706083","article-title":"Loss of ATRX leads to chromosome cohesion and congression defects.","volume":"180","author":"K Ritchie","year":"2008","journal-title":"J Cell Biol"},{"key":"ref56","article-title":"Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.","author":"D Dorsett","year":"2006","journal-title":"Chromosoma"},{"key":"ref57","doi-asserted-by":"crossref","first-page":"7698","DOI":"10.1128\/MCB.23.21.7698-7707.2003","article-title":"Caenorhabditis elegans EVL-14\/PDS-5 and SCC-3 are essential for sister chromatid cohesion in meiosis and mitosis.","volume":"23","author":"F Wang","year":"2003","journal-title":"Mol Cell Biol"},{"key":"ref58","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1038\/nature00918","article-title":"Sperm from neonatal mammalian testes grafted in mice.","volume":"418","author":"A Honaramooz","year":"2002","journal-title":"Nature"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1126\/science.1067081","article-title":"Germline transmission and tissue-specific expression of transgenes delivered by lentiviral vectors.","volume":"295","author":"C Lois","year":"2002","journal-title":"Science"}],"updated-by":[{"DOI":"10.1371\/annotation\/ea5b7eb5-5087-448a-8325-c8efff1f54d9","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2009,5,19]],"date-time":"2009-05-19T00:00:00Z","timestamp":1242691200000}}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0005232","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T10:36:08Z","timestamp":1589020568000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0005232"}},"subtitle":[],"editor":[{"given":"Ellen A. A.","family":"Nollen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2009,5,1]]},"references-count":59,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2009,5,1]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0005232","relation":{"correction":[{"id-type":"doi","id":"10.1371\/annotation\/ea5b7eb5-5087-448a-8325-c8efff1f54d9","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,1]]}}}