{"doi":"10.1007/978-1-4419-6448-9_11","title":"Cornelia de Lange Syndrome","abstract":null,"journal":"Advances in Experimental Medicine and Biology","year":2010,"id":622906,"datarank":0.5456379239589579,"base_score":3.6375861597263857,"endowment":3.6375861597263857,"self_citation_contribution":0.5456379239589579,"citation_network_contribution":0.0,"self_endowment_contribution":0.5456379239589579,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":37,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":106359,"name":"Gareth Baynam","orcid":null,"position":1,"is_corresponding":false},{"id":737716,"name":"Jinglan Liu","orcid":"0000-0001-6211-2890","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Cornelia de Lange Syndrome","abstract":"Cornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Heterozygous mutations in the cohesin regulator, NIPBL, or the cohesin structural components SMC1A and SMC3, have been identified in approximately 65% of individuals with CdLS. Cohesin regulates sister chromatid cohesion during the mitotis and meiosis. In addition, cohesin has been demonstrated to play a critical role in the regulation of gene expression. Furthermore, multiple proteins in the cohesin pathway are also involved in additional fundamental biological events such as double strand DNA break repair, chromatin remodeling and maintaining genomic stability. Here, we will discuss the biology ofcohesin and its associated factors, with emphasis on the clinical manifestations of CdLS and mechanistic studies of the CdLS related proteins.","is_dataset_classified":null,"base_score":3.6375861597263857,"endowment":3.6375861597263857,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"28118817","pmcid":null,"openalex_id":"https://openalex.org/W2202591272","authors":[],"funders":[{"funder_name":"Department of Health","grant_id":"10/1007/53","title":null}],"total_grants":1,"fwci":7.2522,"citation_percentile":0.97171972,"influential_citations":0,"citation_trend":[{"year":2012,"count":3},{"year":2013,"count":8},{"year":2014,"count":5},{"year":2015,"count":4},{"year":2016,"count":3},{"year":2017,"count":1},{"year":2018,"count":1},{"year":2019,"count":2},{"year":2020,"count":2},{"year":2021,"count":1},{"year":2022,"count":2}],"oa_status":"closed","license":null,"oa_locations":[{"url":"http://link.springer.com/content/pdf/10.1007/978-1-4419-6448-9_11.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1007/978-1-4419-6448-9_11","host_type":"book series"},{"url":"https://pubmed.ncbi.nlm.nih.gov/20687500","host_type":"repository"},{"url":"http://research-repository.uwa.edu.au/en/publications/cornelia-de-lange-syndrome(9846a4ba-e4a6-40c1-93b0-62d596a3669b).html","host_type":"repository"},{"url":"http://researchrepository.murdoch.edu.au/id/eprint/25236/","host_type":"repository"}],"fields_of_study":["Genomics and Chromatin Dynamics","RNA Research and Splicing","Epigenetics and DNA Methylation","Adolescent","Adult","Aged","Allied Health Personnel","Ambulances","Cooperative Behavior","Data Collection","Decision Making","Emergency Medical Services","England","Female","Humans","Interdisciplinary Communication","Male","Middle Aged","Qualitative Research","Young Adult"],"mesh_terms":["Cohesins","Structural Maintenance of Chromosome Protein 1","Animals","Chromosomal Proteins, Non-Histone","De Lange Syndrome","DNA Repair","Female","Gene Expression Regulation","Heterozygote","Humans","Male","Mutation","Proteins","Chondroitin Sulfate Proteoglycans","Cell Cycle Proteins","Genomic Instability","DNA Repair-Deficiency Disorders","DNA Breaks, Double-Stranded","Adolescent","Adult","Aged","Allied Health Personnel","Ambulances","Cooperative Behavior","Data Collection","Decision Making","Emergency Medical Services","England","Interdisciplinary Communication","Middle Aged","Qualitative Research","Young Adult"],"keywords":["Cohesin","Establishment of sister chromatid cohesion","Cornelia de Lange Syndrome","Chromatin","Biology","Genetics","Genome instability","Chromatid","Regulator","Cell biology","Gene","DNA","Chromosome","DNA damage","Ambulance service","Ethnography","Multi-method research","Patient safety","Pre-hospital","Qualitative"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T21:28:35.451857Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}