{"id":"https://openalex.org/W2344034479","doi":"https://doi.org/10.1002/ajmg.c.31491","title":"Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome","display_name":"Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome","publication_year":2016,"publication_date":"2016-04-27","ids":{"openalex":"https://openalex.org/W2344034479","doi":"https://doi.org/10.1002/ajmg.c.31491","mag":"2344034479","pmid":"https://pubmed.ncbi.nlm.nih.gov/27120109","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4921392"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.c.31491","doi":"https://doi.org/10.1002/ajmg.c.31491","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ajmg.c.31491","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.31491","source":{"id":"https://openalex.org/S4210171603","display_name":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","issn_l":"1552-4868","issn":["1552-4868","1552-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.31491","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053582074","display_name":"Martha E. Lopez\u2010Burks","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Martha E. Lopez\u2010Burks","raw_affiliation_strings":["UCI's Center of Excellence in Research on Cornelia de Lange"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCI's Center of Excellence in Research on Cornelia de Lange","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105234171","display_name":"Rosaysela Santos","orcid":"https://orcid.org/0009-0007-0614-5031","observed_orcids":["https://orcid.org/0009-0007-0614-5031"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rosaysela Santos","raw_affiliation_strings":["UCI's Center of Excellence in Research on Cornelia de Lange"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCI's Center of Excellence in Research on Cornelia de Lange","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054628529","display_name":"Shimako Kawauchi","orcid":"https://orcid.org/0000-0002-8577-4763","observed_orcids":["https://orcid.org/0000-0002-8577-4763"]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shimako Kawauchi","raw_affiliation_strings":["University of California , Irvine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of California , Irvine","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020125811","display_name":"Anne L. Calof","orcid":"https://orcid.org/0000-0003-3676-2499","observed_orcids":["https://orcid.org/0000-0003-3676-2499"]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Anne L. Calof","raw_affiliation_strings":["Correspondence to: Anne L. Calof, Ph.D., Department of Anatomy and Neurobiology and the Center for Complex Biological Systems, 2626 Bio Sci 3, University of California Irvine, Irvine, CA 92697-2280. E-mail: alcalof@uci.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Correspondence to: Anne L. Calof, Ph.D., Department of Anatomy and Neurobiology and the Center for Complex Biological Systems, 2626 Bio Sci 3, University of California Irvine, Irvine, CA 92697-2280. E-mail: alcalof@uci.edu","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5030125759","display_name":"Arthur D. Lander","orcid":"https://orcid.org/0000-0002-4380-5525","observed_orcids":["https://orcid.org/0000-0002-4380-5525"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Arthur D. Lander","raw_affiliation_strings":["UCI's Center of Excellence in Research on Cornelia de Lange"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCI's Center of Excellence in Research on Cornelia de Lange","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5020125811"],"corresponding_institution_ids":["https://openalex.org/I204250578"],"apc_list":{"value":3460,"currency":"USD","value_usd":3460},"apc_paid":null,"fwci":1.8215,"has_fulltext":true,"cited_by_count":10,"citation_normalized_percentile":{"value":0.84982935,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"172","issue":"2","first_page":"146","last_page":"154"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.9761000275611877,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.9761000275611877,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10268","display_name":"Developmental Biology and Gene Regulation","score":0.006399999838322401,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0038999998942017555,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cornelia-de-lange-syndrome","display_name":"Cornelia de Lange syndrome","score":1.0},{"id":"https://openalex.org/keywords/limb-malformations","display_name":"limb malformations","score":0.8460000157356262},{"id":"https://openalex.org/keywords/polydactyly","display_name":"polydactyly","score":0.9890000224113464},{"id":"https://openalex.org/keywords/sonic-hedgehog-signaling","display_name":"Sonic hedgehog signaling","score":0.7739999890327454},{"id":"https://openalex.org/keywords/bmp-signaling","display_name":"BMP signaling","score":0.8960000276565552},{"id":"https://openalex.org/keywords/hox-genes","display_name":"Hox genes","score":0.9679999947547913},{"id":"https://openalex.org/keywords/cohesin","display_name":"cohesin","score":0.8709999918937683},{"id":"https://openalex.org/keywords/gene-expression-dysregulation","display_name":"gene expression dysregulation","score":0.8180000185966492},{"id":"https://openalex.org/keywords/limb-bud-development","display_name":"limb bud development","score":0.7680000066757202},{"id":"https://openalex.org/keywords/skeletal-phenotype","display_name":"skeletal phenotype","score":0.7770000100135803}],"concepts":[{"id":"https://openalex.org/C2778107874","wikidata":"https://www.wikidata.org/wiki/Q1133289","display_name":"Cornelia de Lange Syndrome","level":2,"score":0.7892982959747314},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6875701546669006},{"id":"https://openalex.org/C111039654","wikidata":"https://www.wikidata.org/wiki/Q253149","display_name":"Hox gene","level":4,"score":0.6020506024360657},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.574470043182373},{"id":"https://openalex.org/C86370654","wikidata":"https://www.wikidata.org/wiki/Q2277862","display_name":"Limb development","level":3,"score":0.5459659099578857},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5410938858985901},{"id":"https://openalex.org/C2776637008","wikidata":"https://www.wikidata.org/wiki/Q14860072","display_name":"Sonic hedgehog","level":3,"score":0.5038174986839294},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.48188549280166626},{"id":"https://openalex.org/C2778539099","wikidata":"https://www.wikidata.org/wiki/Q6120","display_name":"Hedgehog","level":3,"score":0.45231691002845764},{"id":"https://openalex.org/C31507581","wikidata":"https://www.wikidata.org/wiki/Q425383","display_name":"Bone morphogenetic protein","level":3,"score":0.45185887813568115},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.4442840814590454},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4284493923187256},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4265364408493042},{"id":"https://openalex.org/C105951970","wikidata":"https://www.wikidata.org/wiki/Q1036748","display_name":"Loss function","level":4,"score":0.41368740797042847},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.28964632749557495}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003635","descriptor_name":"De Lange Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005801","descriptor_name":"Genes, Homeobox","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017880","descriptor_name":"Limb Deformities, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018797","descriptor_name":"Cell Cycle Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019485","descriptor_name":"Bone Morphogenetic Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053823","descriptor_name":"Hedgehog Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D057895","descriptor_name":"Haploinsufficiency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1002/ajmg.c.31491","doi":"https://doi.org/10.1002/ajmg.c.31491","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ajmg.c.31491","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.31491","source":{"id":"https://openalex.org/S4210171603","display_name":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","issn_l":"1552-4868","issn":["1552-4868","1552-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","raw_type":"journal-article"},{"id":"pmid:27120109","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27120109","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part C, Seminars in medical genetics","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:3885783","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4921392","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4921392","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4921392","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Am J Med Genet C Semin Med Genet","raw_type":"Text"},{"id":"pmh:oai:escholarship.org/ark:/13030/qt9jn1f6nq","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/9jn1f6nq","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American journal of medical genetics. Part C, Seminars in medical genetics, vol 172, iss 2","raw_type":"article"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt9jn1f6nq","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/9jn1f6nq","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Medical Genetics Part C Seminars in Medical Genetics, vol 172, iss 2","raw_type":"article"},{"id":"pmh:qt9jn1f6nq","doi":null,"is_oa":false,"landing_page_url":"http://www.escholarship.org/uc/item/9jn1f6nq","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Lopez-Burks, ME; Santos, R; Kawauchi, S; Calof, AL; & Lander, AD. (2016). Genetic Enhancement of Limb Defects in a Mouse Model of Cornelia de Lange Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 172(2), 146 - 154. doi: 10.1002/ajmg.c.31491. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/9jn1f6nq","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1002/ajmg.c.31491","doi":"https://doi.org/10.1002/ajmg.c.31491","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ajmg.c.31491","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.31491","source":{"id":"https://openalex.org/S4210171603","display_name":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","issn_l":"1552-4868","issn":["1552-4868","1552-4876"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8048999905586243}],"study_designs":[],"awards":[{"id":"https://openalex.org/G479823528","display_name":"Systems Biology of Morphogeneisis and Spatial Information Flow","funder_award_id":"P50GM076516","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G6725350638","display_name":"NIPBL, Cohesin and Related Structural Birth Defects","funder_award_id":"P01HD052860","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000127412","display_name":null,"funder_award_id":"GM-076516","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000258601","display_name":null,"funder_award_id":"HD052860","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320307552","display_name":"Cornelia de Lange Syndrome Foundation","ror":"https://ror.org/05avjmd23"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2344034479.pdf","grobid_xml":"https://content.openalex.org/works/W2344034479.grobid-xml"},"referenced_works_count":35,"referenced_works":["https://openalex.org/W1580446144","https://openalex.org/W1955074918","https://openalex.org/W1969735954","https://openalex.org/W1980605852","https://openalex.org/W1985869972","https://openalex.org/W1994430566","https://openalex.org/W2009578263","https://openalex.org/W2013934108","https://openalex.org/W2027352426","https://openalex.org/W2030656510","https://openalex.org/W2039058904","https://openalex.org/W2042171734","https://openalex.org/W2046581616","https://openalex.org/W2054354179","https://openalex.org/W2059171091","https://openalex.org/W2066478832","https://openalex.org/W2069288467","https://openalex.org/W2074328067","https://openalex.org/W2074354156","https://openalex.org/W2078002929","https://openalex.org/W2078716122","https://openalex.org/W2079459114","https://openalex.org/W2106812445","https://openalex.org/W2117237066","https://openalex.org/W2119006560","https://openalex.org/W2128885131","https://openalex.org/W2130155683","https://openalex.org/W2132093027","https://openalex.org/W2144508613","https://openalex.org/W2146025446","https://openalex.org/W2165584097","https://openalex.org/W2166496717","https://openalex.org/W2175853567","https://openalex.org/W2343043268","https://openalex.org/W2343453537"],"related_works":["https://openalex.org/W2767615410","https://openalex.org/W2343043268","https://openalex.org/W2343453537","https://openalex.org/W2159748576","https://openalex.org/W2119006560","https://openalex.org/W7097313150","https://openalex.org/W1985869972","https://openalex.org/W2123988817","https://openalex.org/W2036137701","https://openalex.org/W2202591272"],"abstract_inverted_index":{"Cornelia":[0],"de":[1],"Lange":[2],"Syndrome":[3],"(CdLS)":[4],"is":[5,25,60,94,140],"characterized":[6],"by":[7,31],"a":[8,119,226],"wide":[9],"variety":[10],"of":[11,21,37,46,57,67,73,89,113,126,149,160,228],"structural":[12],"and":[13,44,49,84,173,189,210],"functional":[14],"abnormalities":[15],"in":[16,80,107,134,171,207,211,225,245],"almost":[17],"every":[18,81],"organ":[19],"system":[20],"the":[22,35,38,55,87,110,114,122,147],"body.":[23],"CdLS":[24],"now":[26],"known":[27,141],"to":[28,61,142,168,177],"be":[29],"caused":[30],"mutations":[32,59],"that":[33,54,157,195,236],"disrupt":[34],"function":[36,200],"cohesin":[39],"complex":[40],"or":[41,198],"its":[42],"regulators,":[43],"studies":[45],"animal":[47],"models":[48],"cell":[50,82],"lines":[51],"tell":[52],"us":[53],"effect":[56],"these":[58],"produce":[62,164],"subtle":[63],"yet":[64,146],"pervasive":[65],"dysregulation":[66],"gene":[68,76,129,191,240],"expression.":[69],"With":[70],"many":[71],"hundreds":[72],"mostly":[74],"small":[75],"expression":[77,130],"changes":[78,131],"occurring":[79],"type":[83],"tissue,":[85],"identifying":[86],"etiology":[88],"any":[90],"particular":[91],"birth":[92],"defect":[93],"very":[95],"challenging.":[96],"Here":[97],"we":[98,193],"focus":[99],"on":[100,181],"limb":[101,111,144,165,220],"abnormalities,":[102,145],"which":[103],"are":[104,132,223,243],"commonly":[105],"seen":[106,170,224],"CdLS.":[108],"In":[109],"buds":[112],"Nipbl-haploinsufficient":[115],"mouse":[116],"(Nipbl(+/-)":[117],"mouse),":[118],"model":[120],"for":[121],"most":[123],"common":[124],"form":[125],"CdLS,":[127,172,231],"modest":[128],"observed":[133],"several":[135],"candidate":[136,161],"pathways":[137,162,242],"whose":[138],"disruption":[139],"cause":[143],"limbs":[148],"Nipbl(+/-)":[150,208],"mice":[151],"develop":[152],"relatively":[153],"normally.":[154],"We":[155],"hypothesized":[156],"further":[158],"impairment":[159],"might":[163],"defects":[166],"similar":[167],"those":[169],"performed":[174],"genetic":[175],"experiments":[176],"test":[178],"this.":[179],"Focusing":[180],"Sonic":[182],"hedgehog":[183],"(Shh),":[184],"Bone":[185],"morphogenetic":[186],"protein":[187],"(Bmp),":[188],"Hox":[190,199],"pathways,":[192],"show":[194],"decreasing":[196],"Bmp":[197],"(but":[201],"not":[202,233],"Shh":[203],"function)":[204],"enhances":[205],"polydactyly":[206],"mice,":[209],"some":[212],"cases":[213],"produces":[214],"novel":[215],"skeletal":[216],"phenotypes.":[217],"However,":[218],"frank":[219],"reductions,":[221],"as":[222],"subset":[227],"individuals":[229],"with":[230],"do":[232],"occur,":[234],"suggesting":[235],"additional":[237],"signaling":[238],"and/or":[239],"regulatory":[241],"involved":[244],"producing":[246],"such":[247],"dramatic":[248],"changes.":[249],"\u00a9":[250],"2016":[251],"Wiley":[252],"Periodicals,":[253],"Inc.":[254]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}