{"id":"https://openalex.org/W1968795852","doi":"https://doi.org/10.1038/jid.2012.248","title":"Epidermolysis Bullosa Simplex Ogna Revisited","display_name":"Epidermolysis Bullosa Simplex Ogna Revisited","publication_year":2012,"publication_date":"2012-08-02","ids":{"openalex":"https://openalex.org/W1968795852","doi":"https://doi.org/10.1038/jid.2012.248","mag":"1968795852","pmid":"https://pubmed.ncbi.nlm.nih.gov/22854623"},"language":"en","primary_location":{"id":"doi:10.1038/jid.2012.248","doi":"https://doi.org/10.1038/jid.2012.248","is_oa":true,"landing_page_url":"https://doi.org/10.1038/jid.2012.248","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","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1038/jid.2012.248","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5051473055","display_name":"Dimitra Kiritsi","orcid":"https://orcid.org/0000-0002-2331-8981","observed_orcids":["https://orcid.org/0000-0002-2331-8981"]},"institutions":[{"id":"https://openalex.org/I2801240073","display_name":"University Medical Center Freiburg","ror":"https://ror.org/03vzbgh69","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2801240073"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Dimitra Kiritsi","raw_affiliation_strings":["Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany","institution_ids":["https://openalex.org/I2801240073"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055565223","display_name":"Manuela Pigors","orcid":"https://orcid.org/0000-0002-3226-3935","observed_orcids":["https://orcid.org/0000-0002-3226-3935"]},"institutions":[{"id":"https://openalex.org/I2801240073","display_name":"University Medical Center Freiburg","ror":"https://ror.org/03vzbgh69","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2801240073"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Manuela Pigors","raw_affiliation_strings":["Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany","institution_ids":["https://openalex.org/I2801240073"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110277607","display_name":"Iliana Tantcheva\u2010Po\u00f3r","orcid":"https://orcid.org/0000-0002-2626-9222","observed_orcids":["https://orcid.org/0000-0002-2626-9222"]},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Iliana Tantcheva-Poor","raw_affiliation_strings":["Department of Dermatology, University of Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010181241","display_name":"Cordula Wessel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I159176309","display_name":"Universit\u00e4t Hamburg","ror":"https://ror.org/00g30e956","country_code":"DE","type":"education","lineage":["https://openalex.org/I159176309"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Cordula Wessel","raw_affiliation_strings":["Department of Dermatology, University of Hamburg, Hamburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, University of Hamburg, Hamburg, Germany","institution_ids":["https://openalex.org/I159176309"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061192454","display_name":"Meral Julia Arin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Meral Julia Arin","raw_affiliation_strings":["Department of Dermatology, University of Cologne, Cologne, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, University of Cologne, Cologne, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037263652","display_name":"J\u00fcrgen Kohlhase","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161046081","display_name":"University of Freiburg","ror":"https://ror.org/0245cg223","country_code":"DE","type":"education","lineage":["https://openalex.org/I161046081"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"J\u00fcrgen Kohlhase","raw_affiliation_strings":["Center for Human Genetics Freiburg, Freiburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics Freiburg, Freiburg, Germany","institution_ids":["https://openalex.org/I161046081"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031299889","display_name":"Leena Bruckner\u2010Tuderman","orcid":"https://orcid.org/0000-0001-8339-9093","observed_orcids":["https://orcid.org/0000-0001-8339-9093"]},"institutions":[{"id":"https://openalex.org/I161046081","display_name":"University of Freiburg","ror":"https://ror.org/0245cg223","country_code":"DE","type":"education","lineage":["https://openalex.org/I161046081"]},{"id":"https://openalex.org/I2801240073","display_name":"University Medical Center Freiburg","ror":"https://ror.org/03vzbgh69","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2801240073"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Leena Bruckner-Tuderman","raw_affiliation_strings":["Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany","Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany","institution_ids":["https://openalex.org/I2801240073"]},{"raw_affiliation_string":"Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany","institution_ids":["https://openalex.org/I161046081"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088114081","display_name":"Cristina Has","orcid":"https://orcid.org/0000-0001-6066-507X","observed_orcids":["https://orcid.org/0000-0001-6066-507X"]},"institutions":[{"id":"https://openalex.org/I2801240073","display_name":"University Medical Center Freiburg","ror":"https://ror.org/03vzbgh69","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2801240073"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Cristina Has","raw_affiliation_strings":["Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany","institution_ids":["https://openalex.org/I2801240073"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5088114081"],"corresponding_institution_ids":["https://openalex.org/I2801240073"],"apc_list":{"value":3800,"currency":"USD","value_usd":3800},"apc_paid":null,"fwci":0.911,"has_fulltext":false,"cited_by_count":23,"citation_normalized_percentile":{"value":0.66826646,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"133","issue":"1","first_page":"270","last_page":"273"},"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/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11730","display_name":"Autoimmune Bullous Skin Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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/plectin","display_name":"plectin","score":0.7400000095367432},{"id":"https://openalex.org/keywords/dystonin","display_name":"dystonin","score":0.609000027179718},{"id":"https://openalex.org/keywords/bpag1","display_name":"BPAG1","score":0.7789999842643738},{"id":"https://openalex.org/keywords/keratin-5","display_name":"keratin 5","score":0.6809999942779541},{"id":"https://openalex.org/keywords/keratin-14","display_name":"keratin 14","score":0.9940000176429749},{"id":"https://openalex.org/keywords/basal-keratinocytes","display_name":"basal keratinocytes","score":0.6389999985694885},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7310000061988831}],"concepts":[{"id":"https://openalex.org/C2778405274","wikidata":"https://www.wikidata.org/wiki/Q3124960","display_name":"Epidermolysis bullosa simplex","level":3,"score":0.9918228387832642},{"id":"https://openalex.org/C2781207856","wikidata":"https://www.wikidata.org/wiki/Q923020","display_name":"Epidermolysis bullosa","level":2,"score":0.8546006679534912},{"id":"https://openalex.org/C2776666470","wikidata":"https://www.wikidata.org/wiki/Q3392203","display_name":"Plectin","level":5,"score":0.8213685750961304},{"id":"https://openalex.org/C170178370","wikidata":"https://www.wikidata.org/wiki/Q14907905","display_name":"Keratin 5","level":3,"score":0.6209801435470581},{"id":"https://openalex.org/C2778266373","wikidata":"https://www.wikidata.org/wiki/Q14864175","display_name":"Keratin 14","level":5,"score":0.5242717266082764},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.455240935087204},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.42874160408973694},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.40701043605804443},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4045483469963074},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.37338459491729736},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.33311986923217773},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3169522285461426},{"id":"https://openalex.org/C78383274","wikidata":"https://www.wikidata.org/wiki/Q421987","display_name":"Intermediate filament","level":4,"score":0.18843260407447815},{"id":"https://openalex.org/C141035611","wikidata":"https://www.wikidata.org/wiki/Q5532934","display_name":"Genetically modified mouse","level":4,"score":0.0},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.0},{"id":"https://openalex.org/C142669718","wikidata":"https://www.wikidata.org/wiki/Q154626","display_name":"Cytoskeleton","level":3,"score":0.0},{"id":"https://openalex.org/C102230213","wikidata":"https://www.wikidata.org/wiki/Q430117","display_name":"Transgene","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D001706","descriptor_name":"Biopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016110","descriptor_name":"Epidermolysis Bullosa Simplex","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D016110","descriptor_name":"Epidermolysis Bullosa Simplex","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016110","descriptor_name":"Epidermolysis Bullosa Simplex","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D019084","descriptor_name":"Fluorescent Antibody Technique, Indirect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051190","descriptor_name":"Plectin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/jid.2012.248","doi":"https://doi.org/10.1038/jid.2012.248","is_oa":true,"landing_page_url":"https://doi.org/10.1038/jid.2012.248","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"},{"id":"pmid:22854623","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22854623","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":"The Journal of investigative dermatology","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1038/jid.2012.248","doi":"https://doi.org/10.1038/jid.2012.248","is_oa":true,"landing_page_url":"https://doi.org/10.1038/jid.2012.248","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":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6240000128746033}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W642515537","https://openalex.org/W1539054849","https://openalex.org/W1900101473","https://openalex.org/W1965583536","https://openalex.org/W1976778293","https://openalex.org/W1996801533","https://openalex.org/W2026186604","https://openalex.org/W2040936676","https://openalex.org/W2070183624","https://openalex.org/W2072151628","https://openalex.org/W2086472592","https://openalex.org/W2090200506","https://openalex.org/W2124751970","https://openalex.org/W2159226501","https://openalex.org/W2159638184","https://openalex.org/W6639455110"],"related_works":["https://openalex.org/W2033941166","https://openalex.org/W2083480399","https://openalex.org/W2078479306","https://openalex.org/W4382025311","https://openalex.org/W2034151619","https://openalex.org/W2058479154","https://openalex.org/W2618763160","https://openalex.org/W2618392497","https://openalex.org/W1565936134","https://openalex.org/W2086661025"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}