{"id":"https://openalex.org/W7280909","doi":null,"title":"Chromosomal localization of the human elastin gene.","display_name":"Chromosomal localization of the human elastin gene.","publication_year":1985,"publication_date":"1985-09-01","ids":{"openalex":"https://openalex.org/W7280909","mag":"7280909","pmid":"https://pubmed.ncbi.nlm.nih.gov/3840328","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1684702"},"language":"en","primary_location":{"id":"pmid:3840328","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3840328","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 human genetics","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5023255205","display_name":"Beverly S. Emanuel","orcid":"https://orcid.org/0000-0002-9207-6955","observed_orcids":["https://orcid.org/0000-0002-9207-6955"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"B S Emanuel","raw_affiliation_strings":["#N#               * University of Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"#N#               * University of Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108539968","display_name":"Linda A. Cannizzaro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L Cannizzaro","raw_affiliation_strings":["#N#               * University of Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"#N#               * University of Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021168862","display_name":"Norma Ornstein\u2010Goldstein","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N Ornstein-Goldstein","raw_affiliation_strings":["#N#               * University of Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"#N#               * University of Pennsylvania","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034446104","display_name":"Zena K. Indik","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Z K Indik","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"K Yoon","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K Yoon","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061886155","display_name":"Mary May","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M May","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044615983","display_name":"Louise Olliver","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L Oliver","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045930523","display_name":"C. D. Boyd","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Boyd","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5109044921","display_name":"J. Rosenbloom","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Rosenbloom","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.5167,"has_fulltext":false,"cited_by_count":44,"citation_normalized_percentile":{"value":0.96332255,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"37","issue":"5","first_page":"873","last_page":"82"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9160000085830688,"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"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9160000085830688,"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"}},{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.03009999915957451,"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"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.026900000870227814,"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/elastin-gene","display_name":"elastin gene","score":0.968999981880188},{"id":"https://openalex.org/keywords/genetic-mapping","display_name":"gene mapping","score":0.6949999928474426},{"id":"https://openalex.org/keywords/chromosome-2","display_name":"chromosome 2","score":0.871999979019165},{"id":"https://openalex.org/keywords/cdna-cloning","display_name":"cDNA cloning","score":0.8500000238418579},{"id":"https://openalex.org/keywords/in-situ-hybridization","display_name":"in situ hybridization","score":0.8059999942779541},{"id":"https://openalex.org/keywords/fetal-aorta","display_name":"fetal aorta","score":0.6179999709129333}],"concepts":[{"id":"https://openalex.org/C2779869378","wikidata":"https://www.wikidata.org/wiki/Q409747","display_name":"Elastin","level":2,"score":0.8608251214027405},{"id":"https://openalex.org/C187882448","wikidata":"https://www.wikidata.org/wiki/Q283478","display_name":"Complementary DNA","level":3,"score":0.7638654708862305},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.7262561321258545},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.715773344039917},{"id":"https://openalex.org/C2780397633","wikidata":"https://www.wikidata.org/wiki/Q6090491","display_name":"PstI","level":4,"score":0.6865724325180054},{"id":"https://openalex.org/C165525559","wikidata":"https://www.wikidata.org/wiki/Q224180","display_name":"Homology (biology)","level":3,"score":0.6161940693855286},{"id":"https://openalex.org/C81089528","wikidata":"https://www.wikidata.org/wiki/Q5134986","display_name":"clone (Java method)","level":3,"score":0.6099181175231934},{"id":"https://openalex.org/C84148353","wikidata":"https://www.wikidata.org/wiki/Q863908","display_name":"Nucleic acid sequence","level":3,"score":0.5549423098564148},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5128377079963684},{"id":"https://openalex.org/C40767141","wikidata":"https://www.wikidata.org/wiki/Q285697","display_name":"Recombinant DNA","level":3,"score":0.4724823832511902},{"id":"https://openalex.org/C22744801","wikidata":"https://www.wikidata.org/wiki/Q172778","display_name":"Plasmid","level":3,"score":0.4559907615184784},{"id":"https://openalex.org/C70278784","wikidata":"https://www.wikidata.org/wiki/Q574427","display_name":"Metaphase","level":4,"score":0.4523122012615204},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4448885917663574},{"id":"https://openalex.org/C54871578","wikidata":"https://www.wikidata.org/wiki/Q2074275","display_name":"Nucleic acid thermodynamics","level":4,"score":0.4403754770755768},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4374259114265442},{"id":"https://openalex.org/C189482833","wikidata":"https://www.wikidata.org/wiki/Q869146","display_name":"cDNA library","level":4,"score":0.4166756570339203},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.11647143959999084}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001345","descriptor_name":"Autoradiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002900","descriptor_name":"Chromosomes, Human, 1-3","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003001","descriptor_name":"Cloning, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004549","descriptor_name":"Elastin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009693","descriptor_name":"Nucleic Acid Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010957","descriptor_name":"Plasmids","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012756","descriptor_name":"Sheep","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:3840328","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3840328","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 human genetics","raw_type":"Journal Article"},{"id":"mag:7280909","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3840328","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.504800021648407}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":39,"referenced_works":["https://openalex.org/W76688929","https://openalex.org/W1484322414","https://openalex.org/W1497356553","https://openalex.org/W1500426031","https://openalex.org/W1528492214","https://openalex.org/W1540191428","https://openalex.org/W1607051851","https://openalex.org/W1956011750","https://openalex.org/W1964288360","https://openalex.org/W1967708395","https://openalex.org/W1967830943","https://openalex.org/W1969349467","https://openalex.org/W1987087698","https://openalex.org/W1991661353","https://openalex.org/W1992412033","https://openalex.org/W2000971934","https://openalex.org/W2008087308","https://openalex.org/W2009960338","https://openalex.org/W2015105601","https://openalex.org/W2018103895","https://openalex.org/W2019410656","https://openalex.org/W2021726075","https://openalex.org/W2040276985","https://openalex.org/W2047719165","https://openalex.org/W2051687781","https://openalex.org/W2065618671","https://openalex.org/W2066046944","https://openalex.org/W2066565042","https://openalex.org/W2078453285","https://openalex.org/W2082789482","https://openalex.org/W2089740131","https://openalex.org/W2089813453","https://openalex.org/W2092069912","https://openalex.org/W2093283768","https://openalex.org/W2094726669","https://openalex.org/W2122953356","https://openalex.org/W2138270253","https://openalex.org/W2146116826","https://openalex.org/W2587196717"],"related_works":["https://openalex.org/W1537537819","https://openalex.org/W2015105601","https://openalex.org/W2341696882","https://openalex.org/W2066046944","https://openalex.org/W2015127183","https://openalex.org/W2271726921","https://openalex.org/W1968473550","https://openalex.org/W1972318572","https://openalex.org/W2044948928","https://openalex.org/W2083334140"],"abstract_inverted_index":{"mRNA":[0],"isolated":[1,39],"from":[2],"fetal":[3],"human":[4,33,49,78],"aorta":[5],"was":[6,12,38,51,92],"used":[7,93],"to":[8,64,127],"synthesize":[9],"cDNA":[10],"that":[11,35,121],"cloned":[13],"into":[14],"the":[15,54,58,65,69,77,122,128],"PstI":[16],"site":[17],"of":[18,47,68,131],"pBR322.":[19],"The":[20,42,117],"recombinant":[21],"clones":[22],"were":[23],"screened":[24],"with":[25,89,105],"an":[26,83],"authentic":[27],"sheep":[28,70],"elastin":[29,71,84,123],"cDNA,":[30],"and":[31,40,57,103,114],"one":[32],"clone":[34,50],"hybridized":[36],"strongly":[37,119],"characterized.":[41],"421-base":[43],"pair":[44],"(bp)":[45],"insert":[46],"this":[48],"sequenced":[52],"by":[53],"dideoxy":[55],"method,":[56],"DNA":[59],"sequence":[60],"showed":[61],"strong":[62],"homology":[63],"nontranslated":[66],"portion":[67],"cDNA.":[72],"This":[73],"result":[74],"unequivocally":[75],"identified":[76],"clone,":[79],"designated":[80],"pcHEL1,":[81],"as":[82],"clone.":[85],"Plasmid":[86],"pcHEL1":[87],"labeled":[88],"[3H]":[90],"nucleotides":[91],"in":[94,95],"situ":[96],"hybridization":[97],"experiments":[98],"utilizing":[99],"normal":[100],"metaphase":[101],"chromosomes":[102,112],"also":[104],"cells":[106],"carrying":[107],"a":[108],"balanced":[109],"translocation":[110],"between":[111],"1":[113],"2:":[115],"46,XY,t(1;2)(p36;q31).":[116],"results":[118],"suggest":[120],"gene":[124],"is":[125],"localized":[126],"q31----qter":[129],"region":[130],"chromosome":[132],"2.":[133]},"counts_by_year":[{"year":2021,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
