{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:43:06Z","timestamp":1790775786620,"version":"4.1.0"},"reference-count":111,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007368","name":"Fondazione Pisa","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007368","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2020,6]]},"DOI":"10.1016\/j.gene.2020.144612","type":"journal-article","created":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T12:14:16Z","timestamp":1585138456000},"page":"144612","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":50,"special_numbering":"C","title":["The multiple facets of the SMC1A gene"],"prefix":"10.1016","volume":"743","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7701-6543","authenticated-orcid":false,"given":"Antonio","family":"Musio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2020.144612_b0005","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1083\/jcb.200808016","article-title":"Cohesin SMC1beta protects telomeres in meiocytes","volume":"187","author":"Adelfalk","year":"2009","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.gene.2020.144612_b0010","doi-asserted-by":"crossref","first-page":"11202","DOI":"10.1093\/nar\/gks925","article-title":"Self-organization of domain structures by DNA-loop-extruding enzymes","volume":"40","author":"Alipour","year":"2012","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.gene.2020.144612_b0015","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1146\/annurev-genet-120417-031353","article-title":"The Smc5\/6 complex: new and old functions of the enigmatic long-distance relative","volume":"52","author":"Aragon","year":"2018","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0020","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1038\/ng.2799","article-title":"Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy","volume":"45","author":"Balbas-Martinez","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0025","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1073\/pnas.0712384105","article-title":"Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers","volume":"105","author":"Barber","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.gene.2020.144612_b0030","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.cub.2017.12.020","article-title":"SMC1alpha substitutes for many meiotic functions of SMC1beta but cannot protect telomeres from damage","volume":"28","author":"Biswas","year":"2018","journal-title":"Curr. Biol."},{"key":"10.1016\/j.gene.2020.144612_b0035","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003985","article-title":"Meiotic cohesin SMC1beta provides prophase I centromeric cohesion and is required for multiple synapsis-associated functions","volume":"9","author":"Biswas","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.gene.2020.144612_b0040","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/humu.9478","article-title":"Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations","volume":"28","author":"Borck","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2020.144612_b0045","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1093\/hmg\/4.2.251","article-title":"The DXS423E gene in Xp11.21 escapes X chromosome inactivation","volume":"4","author":"Brown","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0050","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.molcel.2017.01.026","article-title":"Tuned SMC arms drive chromosomal loading of prokaryotic condensin","volume":"65","author":"Burmann","year":"2017","journal-title":"Mol. Cell"},{"key":"10.1016\/j.gene.2020.144612_b0055","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1007\/s10577-009-9066-6","article-title":"Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome","volume":"17","author":"Castronovo","year":"2009","journal-title":"Chromosome Res."},{"key":"10.1016\/j.gene.2020.144612_b0060","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.cancergen.2019.07.004","article-title":"Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation","volume":"238","author":"Cessna","year":"2019","journal-title":"Cancer Genet"},{"key":"10.1016\/j.gene.2020.144612_b0065","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.molcel.2019.05.023","article-title":"Sister DNA Entrapment between Juxtaposed Smc Heads and Kleisin of the Cohesin Complex","volume":"75","author":"Chapard","year":"2019","journal-title":"Mol. Cell"},{"key":"10.1016\/j.gene.2020.144612_b0070","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/s41439-019-0053-y","article-title":"A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation","volume":"6","author":"Chinen","year":"2019","journal-title":"Hum. Genome Var."},{"key":"10.1016\/j.gene.2020.144612_b0075","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/0092-8674(94)90255-0","article-title":"DPY-27:a chromosome condensation protein homolog that regulates C. elegans dosage compensation through association with the X chromosome","volume":"79","author":"Chuang","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.gene.2020.144612_b0080","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/S1097-2765(00)80420-7","article-title":"Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins","volume":"5","author":"Ciosk","year":"2000","journal-title":"Mol. Cell"},{"key":"10.1016\/j.gene.2020.144612_b0085","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/ajmg.c.31492","article-title":"Genome stability: What we have learned from cohesinopathies","volume":"172","author":"Cucco","year":"2016","journal-title":"Am. J. Med. Genet. C Semin Med. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0090","doi-asserted-by":"crossref","first-page":"6773","DOI":"10.1093\/hmg\/ddu394","article-title":"Mutant cohesin drives chromosomal instability in early colorectal adenomas","volume":"23","author":"Cucco","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0095","doi-asserted-by":"crossref","first-page":"3002","DOI":"10.1093\/hmg\/ddy203","article-title":"Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo","volume":"27","author":"Cukrov","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0100","doi-asserted-by":"crossref","first-page":"a026476","DOI":"10.1101\/cshperspect.a026476","article-title":"Cohesin mutations in cancer","volume":"6","author":"De Koninck","year":"2016","journal-title":"Cold Spring Harb Perspect Med"},{"key":"10.1016\/j.gene.2020.144612_b0105","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":"Deardorff","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0110","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature11082","article-title":"Topological domains in mammalian genomes identified by analysis of chromatin interactions","volume":"485","author":"Dixon","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144612_b0115","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1038\/ng1983","article-title":"X chromosome repression by localization of the C. elegans dosage compensation machinery to sites of transcription initiation","volume":"39","author":"Ercan","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0120","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1074\/mcp.M113.035600","article-title":"Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics","volume":"13","author":"Fagerberg","year":"2014","journal-title":"Mol. Cell. Proteomics"},{"key":"10.1016\/j.gene.2020.144612_b0125","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/nature16490","article-title":"Insulator dysfunction and oncogene activation in IDH mutant gliomas","volume":"529","author":"Flavahan","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144612_b0130","doi-asserted-by":"crossref","first-page":"2038","DOI":"10.1016\/j.celrep.2016.04.085","article-title":"Formation of chromosomal domains by loop extrusion","volume":"15","author":"Fudenberg","year":"2016","journal-title":"Cell Rep"},{"key":"10.1016\/j.gene.2020.144612_b0135","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1101\/gad.277863.116","article-title":"CTCF: making the right connections","volume":"30","author":"Ghirlando","year":"2016","journal-title":"Genes Dev."},{"key":"10.1016\/j.gene.2020.144612_b0140","doi-asserted-by":"crossref","first-page":"6111","DOI":"10.1021\/pr300760p","article-title":"Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes","volume":"11","author":"Gimigliano","year":"2012","journal-title":"J. Proteome Res."},{"key":"10.1016\/j.gene.2020.144612_b0145","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1126\/science.1256917","article-title":"Closing the cohesin ring: structure and function of its Smc3-kleisin interface","volume":"346","author":"Gligoris","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.gene.2020.144612_b0150","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/j.ejmg.2015.09.007","article-title":"Novel SMC1A frameshift mutations in children with developmental delay and epilepsy","volume":"58","author":"Goldstein","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0155","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1016\/j.bpj.2016.02.041","article-title":"Chromosome Compaction by Active Loop Extrusion","volume":"110","author":"Goloborodko","year":"2016","journal-title":"Biophys. J ."},{"key":"10.1016\/j.gene.2020.144612_b0160","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1111\/epi.13794","article-title":"Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: expansion of the phenotype","volume":"58","author":"Gorman","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.gene.2020.144612_b0165","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.cell.2006.08.048","article-title":"Evidence that loading of cohesin onto chromosomes involves opening of its SMC hinge","volume":"127","author":"Gruber","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.gene.2020.144612_b0170","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.bbrc.2008.05.120","article-title":"Cohesin protein SMC1 is a centrosomal protein","volume":"372","author":"Guan","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2020.144612_b0175","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1038\/nature08079","article-title":"Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus","volume":"460","author":"Hadjur","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144612_b0180","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1016\/j.molcel.2004.08.030","article-title":"Structure and stability of cohesin's Smc1-kleisin interaction","volume":"15","author":"Haering","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.gene.2020.144612_b0185","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1038\/35013106","article-title":"CTCF mediates methylation-sensitive enhancer-blocking activity at the H19\/Igf2 locus","volume":"405","author":"Hark","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144612_b0190","doi-asserted-by":"crossref","first-page":"3630","DOI":"10.1038\/ncomms4630","article-title":"The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes","volume":"5","author":"Huether","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.gene.2020.144612_b0195","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1126\/science.1256904","article-title":"Characterization of a DNA exit gate in the human cohesin ring","volume":"346","author":"Huis in 't Veld","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.gene.2020.144612_b0200","doi-asserted-by":"crossref","first-page":"2108","DOI":"10.1002\/ajmg.a.38279","article-title":"Phenotypes and genotypes in individuals with SMC1A variants","volume":"173","author":"Huisman","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2020.144612_b0205","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/cge.12729","article-title":"De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum","volume":"90","author":"Jansen","year":"2016","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0210","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/0027-5107(95)00106-9","article-title":"Analysis of the mammalian recombination protein complex RC-1","volume":"350","author":"Jessberger","year":"1996","journal-title":"Mutat. Res."},{"key":"10.1016\/j.gene.2020.144612_b0215","doi-asserted-by":"crossref","first-page":"15070","DOI":"10.1016\/S0021-9258(18)82439-5","article-title":"A mammalian protein complex that repairs double-strand breaks and deletions by recombination","volume":"268","author":"Jessberger","year":"1993","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2020.144612_b0220","doi-asserted-by":"crossref","first-page":"4061","DOI":"10.1002\/j.1460-2075.1996.tb00779.x","article-title":"SMC proteins constitute two subunits of the mammalian recombination complex RC-1","volume":"15","author":"Jessberger","year":"1996","journal-title":"EMBO J."},{"key":"10.1016\/j.gene.2020.144612_b0225","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1038\/nature09380","article-title":"Mediator and cohesin connect gene expression and chromatin architecture","volume":"467","author":"Kagey","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144612_b0230","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1016\/S0960-9822(00)00597-2","article-title":"Functional association of CTCF with the insulator upstream of the H19 gene is parent of origin-specific and methylation-sensitive","volume":"10","author":"Kanduri","year":"2000","journal-title":"Curr. Biol."},{"key":"10.1016\/j.gene.2020.144612_b0235","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000650","article-title":"Multiple organ system defects and transcriptional dysregulation in the Nipbl(+\/-) mouse, a model of Cornelia de Lange Syndrome","volume":"5","author":"Kawauchi","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.gene.2020.144612_b0240","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1101\/gad.970602","article-title":"Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage","volume":"16","author":"Kim","year":"2002","journal-title":"Genes Dev."},{"key":"10.1016\/j.gene.2020.144612_b0245","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41576-018-0031-0","article-title":"Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement","volume":"19","author":"Kline","year":"2018","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0250","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005698","article-title":"Developmental dynamics of X-chromosome dosage compensation by the DCC and H4K20me1 in C. elegans","volume":"11","author":"Kramer","year":"2015","journal-title":"PLoS Genet."},{"key":"10.1016\/j.gene.2020.144612_b0255","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/0888-7543(91)90143-3","article-title":"Physical mapping of 60 DNA markers in the p21.1\u2013\u2013q21.3 region of the human X chromosome","volume":"11","author":"Lafreniere","year":"1991","journal-title":"Genomics"},{"key":"10.1016\/j.gene.2020.144612_b0260","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/BF00418488","article-title":"A mutant of Saccharomyces cerevisiae with impaired maintenance of centromeric plasmids","volume":"10","author":"Larionov","year":"1985","journal-title":"Curr. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0265","doi-asserted-by":"crossref","first-page":"3076","DOI":"10.1002\/ajmg.a.37364","article-title":"Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A","volume":"167A","author":"Lebrun","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2020.144612_b0270","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1056\/NEJMoa1301689","article-title":"Genomic and epigenomic landscapes of adult de Novo acute myeloid leukemia","volume":"368","author":"Ley","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2020.144612_b0275","doi-asserted-by":"crossref","first-page":"581","DOI":"10.3390\/genes9120581","article-title":"The emerging role of cohesin in the DNA damage response","volume":"9","author":"Litwin","year":"2018","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.gene.2020.144612_b0280","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.1000119","article-title":"Transcriptional dysregulation in NIPBL and cohesin mutant human cells","volume":"7","author":"Liu","year":"2009","journal-title":"PLoS Biol."},{"key":"10.1016\/j.gene.2020.144612_b0285","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/j.cell.2015.04.004","article-title":"Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions","volume":"161","author":"Lupianez","year":"2015","journal-title":"Cell"},{"key":"10.1016\/j.gene.2020.144612_b0290","doi-asserted-by":"crossref","first-page":"18472","DOI":"10.1038\/srep18472","article-title":"SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins","volume":"5","author":"Mannini","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.gene.2020.144612_b0295","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1002\/humu.22430","article-title":"Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome","volume":"34","author":"Mannini","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2020.144612_b0300","doi-asserted-by":"crossref","first-page":"16803","DOI":"10.1038\/srep16803","article-title":"Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome","volume":"5","author":"Mannini","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.gene.2020.144612_b0305","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/humu.21129","article-title":"Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease","volume":"31","author":"Mannini","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2020.144612_b0310","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1002\/ajmg.a.34384","article-title":"SMC1A codon 496 mutations affect the cellular response to genotoxic treatments","volume":"158A","author":"Mannini","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.gene.2020.144612_b0315","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.mrrev.2011.07.004","article-title":"The dark side of cohesin: the carcinogenic point of view","volume":"728","author":"Mannini","year":"2011","journal-title":"Mutat. Res."},{"key":"10.1016\/j.gene.2020.144612_b0320","doi-asserted-by":"crossref","first-page":"3266","DOI":"10.1038\/s41598-017-03118-9","article-title":"Two-step ATP-driven opening of cohesin head","volume":"7","author":"Marcos-Alcalde","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.gene.2020.144612_b0325","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1146\/annurev-genom-083115-022339","article-title":"CTCF and cohesin in genome folding and transcriptional gene regulation","volume":"17","author":"Merkenschlager","year":"2016","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0330","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1016\/j.cell.2015.11.030","article-title":"DNA entry into and exit out of the cohesin ring by an interlocking gate mechanism","volume":"163","author":"Murayama","year":"2015","journal-title":"Cell"},{"key":"10.1016\/j.gene.2020.144612_b0335","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003241","article-title":"Altered cohesin gene dosage affects Mammalian meiotic chromosome structure and behavior","volume":"9","author":"Murdoch","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.gene.2020.144612_b0340","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/hmg\/ddi049","article-title":"SMC1 involvement in fragile site expression","volume":"14","author":"Musio","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0345","first-page":"2855","article-title":"Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts","volume":"63","author":"Musio","year":"2003","journal-title":"Cancer Res."},{"key":"10.1016\/j.gene.2020.144612_b0350","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":"Musio","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0355","doi-asserted-by":"crossref","first-page":"e1001181","DOI":"10.1371\/journal.pbio.1001181","article-title":"Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of cornelia de lange syndrome","volume":"9","author":"Muto","year":"2011","journal-title":"PLoS Biol."},{"key":"10.1016\/j.gene.2020.144612_b0360","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/nature11049","article-title":"Spatial partitioning of the regulatory landscape of the X-inactivation centre","volume":"485","author":"Nora","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144612_b0365","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/0378-1119(91)90012-Z","article-title":"A Mycoplasma hyorhinis protein with sequence similarities to nucleotide-binding enzymes","volume":"97","author":"Notarnicola","year":"1991","journal-title":"Gene"},{"key":"10.1016\/j.gene.2020.144612_b0370","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1083\/jcb.200706136","article-title":"Cohesin Smc1beta determines meiotic chromatin axis loop organization","volume":"180","author":"Novak","year":"2008","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.gene.2020.144612_b0375","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1038\/s41586-019-1659-4","article-title":"Stabilization of chromatin topology safeguards genome integrity","volume":"574","author":"Ochs","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144612_b0380","doi-asserted-by":"crossref","DOI":"10.1016\/j.eplepsyres.2019.06.001","article-title":"A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy","volume":"155","author":"Oguni","year":"2019","journal-title":"Epilepsy Res."},{"key":"10.1016\/j.gene.2020.144612_b0385","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1038\/s41588-018-0042-y","article-title":"Deciphering developmental disorders S., BRD4 interacts with NIPBL and BRD4 is mutated in a cornelia de lange-like syndrome","volume":"50","author":"Olley","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0390","doi-asserted-by":"crossref","first-page":"3377","DOI":"10.1038\/sj.emboj.7601218","article-title":"Human SMC5\/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1\/3 cohesin complex to double-strand breaks","volume":"25","author":"Potts","year":"2006","journal-title":"EMBO J."},{"key":"10.1016\/j.gene.2020.144612_b0395","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1016\/j.cell.2014.11.021","article-title":"A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping","volume":"159","author":"Rao","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.gene.2020.144612_b0400","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.cell.2017.09.026","article-title":"Cohesin loss eliminates all loop domains","volume":"171","author":"Rao","year":"2017","journal-title":"Cell"},{"key":"10.1016\/j.gene.2020.144612_b0405","doi-asserted-by":"crossref","first-page":"6984","DOI":"10.1128\/MCB.21.20.6984-6998.2001","article-title":"Novel meiosis-specific isoform of mammalian SMC1","volume":"21","author":"Revenkova","year":"2001","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.gene.2020.144612_b0410","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1038\/ncb1135","article-title":"Cohesin SMC1 beta is required for meiotic chromosome dynamics, sister chromatid cohesion and DNA recombination","volume":"6","author":"Revenkova","year":"2004","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.gene.2020.144612_b0415","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1093\/hmg\/ddn369","article-title":"Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA","volume":"18","author":"Revenkova","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0420","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/j.ydbio.2010.05.493","article-title":"Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved","volume":"344","author":"Rhodes","year":"2010","journal-title":"Dev. Biol."},{"key":"10.1016\/j.gene.2020.144612_b0425","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1083\/jcb.127.2.303","article-title":"ScII: an abundant chromosome scaffold protein is a member of a family of putative ATPases with an unusual predicted tertiary structure","volume":"127","author":"Saitoh","year":"1994","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.gene.2020.144612_b0430","article-title":"Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach","author":"Sarogni","year":"2019","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0435","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1186\/s13046-019-1116-0","article-title":"Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development","volume":"38","author":"Sarogni","year":"2019","journal-title":"J. Exp. Clin. Cancer Res."},{"key":"10.1016\/j.gene.2020.144612_b0440","doi-asserted-by":"crossref","first-page":"2195","DOI":"10.1182\/blood.2019001553","article-title":"Cohesin-dependent regulation of gene expression during differentiation is lost in Cohesin-mutated myeloid malignancies","volume":"134","author":"Sasca","year":"2019","journal-title":"Blood"},{"key":"10.1016\/j.gene.2020.144612_b0445","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/S1097-2765(03)00108-4","article-title":"Kleisins: a superfamily of bacterial and eukaryotic SMC protein partners","volume":"11","author":"Schleiffer","year":"2003","journal-title":"Mol. Cell"},{"key":"10.1016\/j.gene.2020.144612_b0450","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/nature24281","article-title":"Two independent modes of chromatin organization revealed by cohesin removal","volume":"551","author":"Schwarzer","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144612_b0455","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1101\/gr.161620.113","article-title":"Cohesin-based chromatin interactions enable regulated gene expression within preexisting architectural compartments","volume":"23","author":"Seitan","year":"2013","journal-title":"Genome Res."},{"key":"10.1016\/j.gene.2020.144612_b0460","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1002\/ajmg.a.35381","article-title":"Germline mosaicism in Cornelia de Lange syndrome","volume":"158A","author":"Slavin","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2020.144612_b0465","doi-asserted-by":"crossref","first-page":"3119","DOI":"10.1038\/emboj.2013.237","article-title":"Cohesin-mediated interactions organize chromosomal domain architecture","volume":"32","author":"Sofueva","year":"2013","journal-title":"EMBO J."},{"key":"10.1016\/j.gene.2020.144612_b0470","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1016\/j.cell.2018.04.015","article-title":"The cohesin ring uses its hinge to organize DNA using non-topological as well as topological mechanisms","volume":"173","author":"Srinivasan","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.gene.2020.144612_b0475","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1083\/jcb.123.6.1635","article-title":"SMC1: an essential yeast gene encoding a putative head-rod-tail protein is required for nuclear division and defines a new ubiquitous protein family","volume":"123","author":"Strunnikov","year":"1993","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.gene.2020.144612_b0480","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0378-1119(99)00021-9","article-title":"Cloning and characterization of mammalian SMC1 and SMC3 genes and proteins, components of the DNA recombination complexes RC-1","volume":"228","author":"Stursberg","year":"1999","journal-title":"Gene"},{"key":"10.1016\/j.gene.2020.144612_b0485","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1093\/hmg\/4.2.257","article-title":"The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation","volume":"4","author":"Sultana","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0490","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1111\/epi.13669","article-title":"Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases","volume":"58","author":"Symonds","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.gene.2020.144612_b0495","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1182\/blood-2013-07-518746","article-title":"Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications","volume":"123","author":"Thol","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.gene.2020.144612_b0500","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.mrfmmm.2004.05.006","article-title":"The ATM-SMC1 pathway is essential for activation of the chromium[VI]-induced S-phase checkpoint","volume":"554","author":"Wakeman","year":"2004","journal-title":"Mutat. Res."},{"key":"10.1016\/j.gene.2020.144612_b0505","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.mrgentox.2006.06.007","article-title":"ATR regulates hexavalent chromium-induced S-phase checkpoint through phosphorylation of SMC1","volume":"610","author":"Wakeman","year":"2006","journal-title":"Mutat. Res."},{"key":"10.1016\/j.gene.2020.144612_b0510","first-page":"90","article-title":"Role of SMC1A overexpression as a predictor of poor prognosis in late stage colorectal cancer. Bmc","volume":"15","author":"Wang","year":"2015","journal-title":"Cancer"},{"key":"10.1016\/j.gene.2020.144612_b0515","doi-asserted-by":"crossref","first-page":"2625","DOI":"10.1038\/emboj.2009.202","article-title":"The cohesin complex is required for the DNA damage-induced G2\/M checkpoint in mammalian cells","volume":"28","author":"Watrin","year":"2009","journal-title":"EMBO J."},{"key":"10.1016\/j.gene.2020.144612_b0520","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/nature06634","article-title":"Cohesin mediates transcriptional insulation by CCCTC-binding factor","volume":"451","author":"Wendt","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.gene.2020.144612_b0525","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.jsb.2006.01.001","article-title":"Sequence divergence of coiled coils\u2013structural rods, myosin filament packing, and the extraordinary conservation of cohesins","volume":"154","author":"White","year":"2006","journal-title":"J. Struct. Biol."},{"key":"10.1016\/j.gene.2020.144612_b0530","doi-asserted-by":"crossref","first-page":"198","DOI":"10.4161\/cc.9.1.10431","article-title":"Interaction between Rae1 and cohesin subunit SMC1 is required for proper spindle formation","volume":"9","author":"Wong","year":"2010","journal-title":"Cell Cycle"},{"key":"10.1016\/j.gene.2020.144612_b0535","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.4161\/cc.9.9.11806","article-title":"An update on cohesin function as a 'molecular glue' on chromosomes and spindles","volume":"9","author":"Wong","year":"2010","journal-title":"Cell Cycle"},{"key":"10.1016\/j.gene.2020.144612_b0540","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1146\/annurev-genet-112618-043633","article-title":"Organization of Chromosomal DNA by SMC Complexes","volume":"53","author":"Yatskevich","year":"2019","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.gene.2020.144612_b0545","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1101\/gad.970702","article-title":"SMC1 is a downstream effector in the ATM\/NBS1 branch of the human S-phase checkpoint","volume":"16","author":"Yazdi","year":"2002","journal-title":"Genes Dev."},{"key":"10.1016\/j.gene.2020.144612_b0550","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1172\/JCI77435","article-title":"Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes","volume":"125","author":"Yuan","year":"2015","journal-title":"J Clin Invest"},{"key":"10.1016\/j.gene.2020.144612_b0555","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1007118","article-title":"Taking cohesin and condensin in context","volume":"14","author":"Yuen","year":"2018","journal-title":"PLoS Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192030281X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192030281X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T16:31:29Z","timestamp":1759854689000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S037811192030281X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":111,"alternative-id":["S037811192030281X"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2020.144612","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2020,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The multiple facets of the SMC1A gene","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2020.144612","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"144612"}}