{"id":"https://openalex.org/W2340260786","doi":"https://doi.org/10.1016/j.jid.2016.02.407","title":"374 Complex genetics of non-herlitz junctional epidermolysis bullosa","display_name":"374 Complex genetics of non-herlitz junctional epidermolysis bullosa","publication_year":2016,"publication_date":"2016-04-28","ids":{"openalex":"https://openalex.org/W2340260786","doi":"https://doi.org/10.1016/j.jid.2016.02.407","mag":"2340260786"},"language":"en","primary_location":{"id":"doi:10.1016/j.jid.2016.02.407","doi":"https://doi.org/10.1016/j.jid.2016.02.407","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2016.02.407","pdf_url":null,"source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1016/j.jid.2016.02.407","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5079348749","display_name":"Thomas J. Sproule","orcid":"https://orcid.org/0000-0002-7937-232X","observed_orcids":["https://orcid.org/0000-0002-7937-232X"]},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T.J. Sproule","raw_affiliation_strings":["The Jackson Laboratory, Bar Harbor, ME"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory, Bar Harbor, ME","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043034121","display_name":"Vivek M. Philip","orcid":"https://orcid.org/0000-0001-5126-707X","observed_orcids":["https://orcid.org/0000-0001-5126-707X"]},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"V. Philip","raw_affiliation_strings":["The Jackson Laboratory, Bar Harbor, ME"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory, Bar Harbor, ME","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011310770","display_name":"Nabig A. Chaudhry","orcid":"https://orcid.org/0000-0002-3783-539X","observed_orcids":["https://orcid.org/0000-0002-3783-539X"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N. Chaudhry","raw_affiliation_strings":["Harvard University, Cambridge, MA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harvard University, Cambridge, MA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031368365","display_name":"John P. Sundberg","orcid":"https://orcid.org/0000-0002-1523-5430","observed_orcids":["https://orcid.org/0000-0002-1523-5430"]},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J.P. Sundberg","raw_affiliation_strings":["The Jackson Laboratory, Bar Harbor, ME"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory, Bar Harbor, ME","institution_ids":["https://openalex.org/I4210115256"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018199914","display_name":"Derry C. Roopenian","orcid":"https://orcid.org/0000-0001-8409-7214","observed_orcids":["https://orcid.org/0000-0001-8409-7214"]},"institutions":[{"id":"https://openalex.org/I4210115256","display_name":"Jackson Laboratory","ror":"https://ror.org/021sy4w91","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210115256"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D.C. Roopenian","raw_affiliation_strings":["The Jackson Laboratory, Bar Harbor, ME"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Jackson Laboratory, Bar Harbor, ME","institution_ids":["https://openalex.org/I4210115256"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3800,"currency":"USD","value_usd":3800},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.02656646,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"136","issue":"5","first_page":"S66","last_page":"S66"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T11650","display_name":"Skin and Cellular Biology Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T12355","display_name":"Genetic and rare skin diseases.","score":9.999999747378752e-05,"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/T11167","display_name":"Hair Growth and Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/basement-membrane-proteins","display_name":"basement membrane proteins","score":0.9340000152587891},{"id":"https://openalex.org/keywords/blistering-skin-disease","display_name":"blistering skin disease","score":0.6700000166893005},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.7559999823570251},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.6230000257492065}],"concepts":[{"id":"https://openalex.org/C2781207856","wikidata":"https://www.wikidata.org/wiki/Q923020","display_name":"Epidermolysis bullosa","level":2,"score":0.8466865420341492},{"id":"https://openalex.org/C2780377952","wikidata":"https://www.wikidata.org/wiki/Q6311810","display_name":"Junctional epidermolysis bullosa (veterinary medicine)","level":4,"score":0.819871187210083},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7928311824798584},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.658989667892456},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.640734851360321},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6344369649887085},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5903032422065735},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5783709287643433},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5259109735488892},{"id":"https://openalex.org/C2776193487","wikidata":"https://www.wikidata.org/wiki/Q32846","display_name":"Basement membrane","level":2,"score":0.4296565055847168},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.1870560646057129}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jid.2016.02.407","doi":"https://doi.org/10.1016/j.jid.2016.02.407","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2016.02.407","pdf_url":null,"source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.jid.2016.02.407","doi":"https://doi.org/10.1016/j.jid.2016.02.407","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2016.02.407","pdf_url":null,"source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4323663709","https://openalex.org/W1969203140","https://openalex.org/W2120048588","https://openalex.org/W2070781839","https://openalex.org/W2068242350","https://openalex.org/W1999227636","https://openalex.org/W2000327471","https://openalex.org/W2517109479","https://openalex.org/W4384008910","https://openalex.org/W7214322036"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-25T08:18:29.962427","created_date":"2016-06-24T00:00:00"}
