{"id":"https://openalex.org/W2968048719","doi":"https://doi.org/10.1111/bjd.18445","title":"A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease","display_name":"A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease","publication_year":2019,"publication_date":"2019-08-17","ids":{"openalex":"https://openalex.org/W2968048719","doi":"https://doi.org/10.1111/bjd.18445","mag":"2968048719","pmid":"https://pubmed.ncbi.nlm.nih.gov/31421058"},"language":"en","primary_location":{"id":"doi:10.1111/bjd.18445","doi":"https://doi.org/10.1111/bjd.18445","is_oa":false,"landing_page_url":"https://doi.org/10.1111/bjd.18445","pdf_url":null,"source":{"id":"https://openalex.org/S45720283","display_name":"British Journal of Dermatology","issn_l":"0007-0963","issn":["0007-0963","1365-2133"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Dermatology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://nagoya.repo.nii.ac.jp/record/30170/files/bjd.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5079729964","display_name":"Takuya Takeichi","orcid":"https://orcid.org/0000-0001-5958-2875","observed_orcids":["https://orcid.org/0000-0001-5958-2875"]},"institutions":[{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"T. Takeichi","raw_affiliation_strings":["Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"],"raw_orcid":"https://orcid.org/0000-0001-5958-2875","affiliations":[{"raw_affiliation_string":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan","institution_ids":["https://openalex.org/I60134161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102850981","display_name":"Takaaki Matsumoto","orcid":"https://orcid.org/0000-0002-4430-0502","observed_orcids":["https://orcid.org/0000-0002-4430-0502"]},"institutions":[{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T. Matsumoto","raw_affiliation_strings":["Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan","institution_ids":["https://openalex.org/I60134161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007192124","display_name":"Toshifumi Nomura","orcid":"https://orcid.org/0000-0002-9954-6446","observed_orcids":["https://orcid.org/0000-0002-9954-6446"]},"institutions":[{"id":"https://openalex.org/I205349734","display_name":"Hokkaido University","ror":"https://ror.org/02e16g702","country_code":"JP","type":"education","lineage":["https://openalex.org/I205349734"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T. Nomura","raw_affiliation_strings":["Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan","institution_ids":["https://openalex.org/I205349734"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M. Takeda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I205349734","display_name":"Hokkaido University","ror":"https://ror.org/02e16g702","country_code":"JP","type":"education","lineage":["https://openalex.org/I205349734"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M. Takeda","raw_affiliation_strings":["Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan","institution_ids":["https://openalex.org/I205349734"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101842886","display_name":"Hirofumi Niwa","orcid":"https://orcid.org/0000-0003-4047-2734","observed_orcids":["https://orcid.org/0000-0003-4047-2734"]},"institutions":[{"id":"https://openalex.org/I42405503","display_name":"Gifu University","ror":"https://ror.org/024exxj48","country_code":"JP","type":"education","lineage":["https://openalex.org/I42405503"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Niwa","raw_affiliation_strings":["Department of Dermatology Gifu University Graduate School of Medicine Gifu Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology Gifu University Graduate School of Medicine Gifu Japan","institution_ids":["https://openalex.org/I42405503"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009825111","display_name":"Michihiro Kono","orcid":"https://orcid.org/0000-0003-2639-1583","observed_orcids":["https://orcid.org/0000-0003-2639-1583"]},"institutions":[{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M. Kono","raw_affiliation_strings":["Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"],"raw_orcid":"https://orcid.org/0000-0003-2639-1583","affiliations":[{"raw_affiliation_string":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan","institution_ids":["https://openalex.org/I60134161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101490549","display_name":"Hiroshi Shimizu","orcid":"https://orcid.org/0000-0002-9930-1326","observed_orcids":["https://orcid.org/0000-0002-9930-1326"]},"institutions":[{"id":"https://openalex.org/I205349734","display_name":"Hokkaido University","ror":"https://ror.org/02e16g702","country_code":"JP","type":"education","lineage":["https://openalex.org/I205349734"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Shimizu","raw_affiliation_strings":["Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan","institution_ids":["https://openalex.org/I205349734"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018784643","display_name":"Tomoo Ogi","orcid":"https://orcid.org/0000-0002-5492-9072","observed_orcids":["https://orcid.org/0000-0002-5492-9072"]},"institutions":[{"id":"https://openalex.org/I4405286286","display_name":"Research Institute of Environmental Medicine, Nagoya University","ror":"https://ror.org/01qvr7m20","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T. Ogi","raw_affiliation_strings":["Department of Genetics Research Institute of Environmental Medicine Nagoya University Nagoya Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics Research Institute of Environmental Medicine Nagoya University Nagoya Japan","institution_ids":["https://openalex.org/I4405286286","https://openalex.org/I60134161"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101898812","display_name":"Masashi Akiyama","orcid":"https://orcid.org/0000-0001-5863-9315","observed_orcids":["https://orcid.org/0000-0001-5863-9315","https://orcid.org/0000-0002-0567-8342"]},"institutions":[{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"M. Akiyama","raw_affiliation_strings":["Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan","institution_ids":["https://openalex.org/I60134161"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5079729964","https://openalex.org/A5101898812"],"corresponding_institution_ids":["https://openalex.org/I60134161"],"apc_list":{"value":2700,"currency":"GBP","value_usd":3800},"apc_paid":null,"fwci":4.4158,"has_fulltext":true,"cited_by_count":30,"citation_normalized_percentile":{"value":0.9454584,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"182","issue":"2","first_page":"491","last_page":"493"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12731","display_name":"Hidradenitis Suppurativa and Treatments","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T12731","display_name":"Hidradenitis Suppurativa and Treatments","score":0.9984999895095825,"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.0007999999797903001,"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/T12328","display_name":"Autoimmune and Inflammatory Disorders","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"}}],"keywords":[{"id":"https://openalex.org/keywords/hidradenitis-suppurativa","display_name":"hidradenitis suppurativa","score":0.9330000281333923},{"id":"https://openalex.org/keywords/nicastrin","display_name":"nicastrin","score":0.9950000047683716},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.949999988079071},{"id":"https://openalex.org/keywords/gamma-secretase","display_name":"gamma-secretase","score":0.8970000147819519},{"id":"https://openalex.org/keywords/hyperkeratosis","display_name":"hyperkeratosis","score":0.7250000238418579},{"id":"https://openalex.org/keywords/kidney-failure","display_name":"renal failure","score":0.5889999866485596},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8040000200271606},{"id":"https://openalex.org/keywords/notch1","display_name":"Notch1","score":0.5950000286102295},{"id":"https://openalex.org/keywords/notch2","display_name":"Notch2","score":0.9660000205039978},{"id":"https://openalex.org/keywords/japanese-family","display_name":"Japanese family","score":0.6539999842643738},{"id":"https://openalex.org/keywords/hemodialysis","display_name":"hemodialysis","score":0.6169999837875366}],"concepts":[{"id":"https://openalex.org/C2776002364","wikidata":"https://www.wikidata.org/wiki/Q341999","display_name":"Hidradenitis suppurativa","level":3,"score":0.9656941890716553},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.9409726858139038},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5301236510276794},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.4687868356704712},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4507914185523987},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4410158097743988},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3271777033805847},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2412469983100891},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.22811266779899597},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11996963620185852}],"mesh":[{"descriptor_ui":"D000072417","descriptor_name":"Protein Domains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017497","descriptor_name":"Hidradenitis Suppurativa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D021382","descriptor_name":"Protein Sorting Signals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053829","descriptor_name":"Amyloid Precursor Protein Secretases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1111/bjd.18445","doi":"https://doi.org/10.1111/bjd.18445","is_oa":false,"landing_page_url":"https://doi.org/10.1111/bjd.18445","pdf_url":null,"source":{"id":"https://openalex.org/S45720283","display_name":"British Journal of Dermatology","issn_l":"0007-0963","issn":["0007-0963","1365-2133"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"British Journal of Dermatology","raw_type":"journal-article"},{"id":"pmid:31421058","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31421058","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 British journal of dermatology","raw_type":"Case Reports"},{"id":"pmh:oai:irdb.nii.ac.jp:01152:0004519137","doi":null,"is_oa":true,"landing_page_url":"https://nagoya.repo.nii.ac.jp/records/30170","pdf_url":"https://nagoya.repo.nii.ac.jp/record/30170/files/bjd.pdf","source":{"id":"https://openalex.org/S7407056385","display_name":"Institutional Repositories DataBase (IRDB)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I184597095","host_organization_name":"National Institute of Informatics","host_organization_lineage":["https://openalex.org/I184597095"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"British Journal of Dermatology","raw_type":"journal article"},{"id":"pmh:oai:nagoya.repo.nii.ac.jp:00030170","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/2237/00032356","pdf_url":null,"source":{"id":"https://openalex.org/S4406922638","display_name":"Nagoya University Repository (NAGOYA Repository)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"British Journal of Dermatology","raw_type":"journal article"}],"best_oa_location":{"id":"pmh:oai:irdb.nii.ac.jp:01152:0004519137","doi":null,"is_oa":true,"landing_page_url":"https://nagoya.repo.nii.ac.jp/records/30170","pdf_url":"https://nagoya.repo.nii.ac.jp/record/30170/files/bjd.pdf","source":{"id":"https://openalex.org/S7407056385","display_name":"Institutional Repositories DataBase (IRDB)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I184597095","host_organization_name":"National Institute of Informatics","host_organization_lineage":["https://openalex.org/I184597095"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"British Journal of Dermatology","raw_type":"journal article"},"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1757920276","display_name":"Elucidation of the molecular pathogenesis of genetic disorders caused by defects in DNA damage response using deep proteomic analysis","funder_award_id":"18H03372","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G3525187417","display_name":null,"funder_award_id":"18ek0109281h0002","funder_id":"https://openalex.org/F4320311405","funder_display_name":"Japan Agency for Medical Research and Development"},{"id":"https://openalex.org/G7045015829","display_name":null,"funder_award_id":"JP18ek0109295h0002","funder_id":"https://openalex.org/F4320311405","funder_display_name":"Japan Agency for Medical Research and Development"},{"id":"https://openalex.org/G745975306","display_name":"Elucidation of pathogenic mechanisms of ichthyosis due to epidermal lipid abnormalities and development of novel therapeutic agents","funder_award_id":"18H02832","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"},{"id":"https://openalex.org/G7903000784","display_name":null,"funder_award_id":"18H02832","funder_id":"https://openalex.org/F4320311405","funder_display_name":"Japan Agency for Medical Research and Development"},{"id":"https://openalex.org/G8567304175","display_name":"Multidimensional etiologic analysis of autoinflammatory keratinization disease","funder_award_id":"18K16058","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320311405","display_name":"Japan Agency for Medical Research and Development","ror":"https://ror.org/004rtk039"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2968048719.pdf","grobid_xml":"https://content.openalex.org/works/W2968048719.grobid-xml"},"referenced_works_count":8,"referenced_works":["https://openalex.org/W1639521477","https://openalex.org/W1990429560","https://openalex.org/W2224237734","https://openalex.org/W2293796820","https://openalex.org/W2519124463","https://openalex.org/W2729992889","https://openalex.org/W2769024850","https://openalex.org/W2791155224"],"related_works":["https://openalex.org/W2750623439","https://openalex.org/W2488953954","https://openalex.org/W2086955596","https://openalex.org/W1949935622","https://openalex.org/W4247191376","https://openalex.org/W2750603595","https://openalex.org/W3006857762","https://openalex.org/W1526182655","https://openalex.org/W1946513648","https://openalex.org/W2063950749"],"abstract_inverted_index":{"Dear":[0],"Editor,":[1],"NCSTN":[2,60,207,409,906],"encodes":[3],"nicastrin,":[4],"one":[5,867],"of":[6,10,20,119,121,130,180,183,190,205,221,265,291,343,350,353,365,368,377,383,395,422,518,524,529,537,544,563,586,598,644,656,676,708,720,725,755,764,771,783,804,848,880,885,911,966,969],"the":[7,18,100,114,122,126,169,191,206,222,266,279,314,344,351,363,366,374,378,401,436,452,481,514,525,530,534,541,550,570,584,589,595,602,605,633,636,640,652,657,673,677,684,706,762,784,817,849,866,872,886,922,960,964],"three":[8,724],"subunits":[9,34],"\u03b3\u2010secretase,":[11],"a":[12,76,89,181,216,404,608,808,940,951],"transmembrane":[13,22,297],"endoprotease":[14],"complex":[15],"that":[16,610,683,741,844,868,902],"catalyses":[17],"cleavage":[19,674,693],"many":[21,93,878],"proteins":[23,275],"including":[24,774],"Notch":[25],"receptors.1":[26],"In":[27,467],"2010,":[28],"mutations":[29,61,492,505,907],"in":[30,41,55,224,278,282,408,435,451,493,498,506,513,549,554,569,575,594,601,730,769,775,780,792,875,891],"genes":[31,496,508],"encoding":[32],"\u03b3\u2010secretase":[33],"(NCSTN,":[35],"PSENEN":[36,423],"and":[37,51,97,106,125,128,149,157,164,172,177,188,228,242,250,271,273,281,307,325,340,370,424,463,477,565,668,705,710,759,835,883,928,931,949],"PSEN1)":[38],"were":[39,567,889],"reported":[40,761,837],"patients":[42,56,727],"with":[43,57,59,80,82,92,146,231,470,533,717,728,743,800,830,852],"hidradenitis":[44],"suppurativa":[45],"(HS).2":[46],"Elevated":[47],"tumour":[48],"necrosis":[49],"factor\u2010\u03b1":[50],"interleukin":[52],"(IL)\u201010":[53],"levels":[54],"HS":[58,81,729,805,838,903],"have":[62,688],"been":[63,790],"found,1":[64],"although":[65],"other":[66,495],"reports":[67],"found":[68,72,502],"no":[69,427,503],"elevation3":[70],"or":[71,450],"decreases.4":[73],"We":[74,486,661],"investigated":[75],"three\u2010generation":[77],"Japanese":[78,447],"family":[79,526],"autosomal":[83],"dominant":[84],"inheritance.":[85],"The":[86,210,263,429,646],"patient":[87,229,280,345,402,893],"was":[88,276,359,371,388,413,591,917,936],"42\u2010year\u2010old":[90],"man":[91],"erosions,":[94],"scars,":[95,162],"comedones":[96],"cysts":[98,165],"on":[99,168,311,639,766],"face,":[101],"neck,":[102],"trunk,":[103],"armpits,":[104],"buttocks":[105,171],"extremities":[107],"(Fig.":[108,136,418,558,579,894],"1a).":[109],"A":[110,203,338],"biopsy":[111],"sample":[112,182],"from":[113,153,313,390,400,446,521,632,921,959],"buttock":[115],"showed":[116,318,733],"clear":[117],"evidence":[118],"hyperkeratosis":[120,187,882],"follicular":[123,192,881,887],"epithelium":[124,193,888],"occlusion":[127],"dilatation":[129],"follicles":[131,874],"by":[132,215,373,415,619,699,905,919,939,950],"keratin":[133],"plug":[134],"formation":[135],"1b,":[137,895],"c).":[138,896],"Interestingly,":[139,877],"he":[140],"had":[141,142,150,347],"severe":[143,734],"renal":[144,355,511,736,752,812],"failure":[145,512],"unknown":[147],"aetiology":[148],"received":[151],"haemodialysis":[152,348],"his":[154],"twenties.":[155],"Clinicopathological":[156],"genetic":[158],"features.":[159],"(a)":[160],"Widespread":[161],"erosions":[163],"are":[166,309,715],"seen":[167,799],"back,":[170],"thighs.":[173],"(b,":[174],"c)":[175],"Haematoxylin":[176],"eosin":[178],"staining":[179,267,542],"affected":[184],"skin":[185,227,230,552,556,573,577,596,745,795],"shows":[186],"hyperplasia":[189,847,884],"[scale":[194],"bars:":[195,238,259],"500":[196],"\u03bcm":[197,200,240,244],"(b),":[198],"200":[199],"(c)].":[201],"(d)":[202],"schematic":[204],"domain":[208],"structure.":[209],"patient's":[211,551,571],"mutation":[212,407,431,482,532,590,606,637],"is":[213,611,649,739,869],"marked":[214],"black":[217],"arrow.":[218],"(e\u2013h)":[219],"Immunohistochemistry":[220,539],"epidermis":[223,851],"normal":[225,319,332],"control":[226,284,555,576],"anti\u2010nicastrin":[232],"[ab45425;":[233],"Abcam,":[234,248],"Cambridge,":[235],"U.K.,":[236],"scale":[237,258],"50":[239,260],"(e)":[241],"20":[243],"(f)];":[245],"anti\u2010Notch1":[246],"[ab52627;":[247],"(g)]":[249],"anti\u2010Notch2":[251],"[ab8926;":[252],"Abcam)":[253],"(h)]":[254],"antibodies":[255],"[(g),":[256],"(h)":[257],"\u03bcm].":[261],"(i)":[262],"intensity":[264,543],"for":[268,459,630,751,811,925,942,953,963],"nicastrin":[269,545,686,703],"(Nica)":[270],"Notch1":[272,564,709],"Notch2":[274,566,711],"evaluated":[277],"10":[283,322],"samples":[285,520,557,578],"using":[286],"ImageJ":[287],"software":[288],"(National":[289],"Institutes":[290],"Health,":[292],"Bethesda,":[293],"MD,":[294],"U.S.A.).":[295],"TM,":[296],"domain;":[298],"Pt,":[299],"patient;":[300],"cont,":[301],"control.":[302],"Additional":[303],"figures":[304],"depicting":[305],"sequencing":[306,394,417,421],"pedigree":[308,732],"available":[310],"request":[312],"authors.":[315],"Serum":[316],"biochemistry":[317],"IL\u20101\u03b2":[320],"(<":[321],"pg":[323,330,336],"mL\u22121)":[324],"mildly":[326],"elevated":[327],"IL\u201018":[328],"(449":[329],"mL\u22121,":[331],"range:":[333],"<":[334],"211":[335],"mL\u22121).":[337],"cousin":[339],"an":[341,840,860],"aunt":[342],"also":[346,937],"because":[349,754,803],"complication":[352],"chronic":[354,735,756],"disease.":[356,813],"This":[357],"study":[358],"performed":[360],"according":[361],"to":[362,483,510,546,671,825,865,933,947,957,972],"principles":[364],"Declaration":[367],"Helsinki":[369],"approved":[372],"Ethics":[375],"Committee":[376],"Nagoya":[379],"University":[380],"Graduate":[381],"School":[382],"Medicine.":[384],"Written":[385],"informed":[386],"consent":[387],"obtained":[389],"all":[391],"participants.":[392],"Whole\u2010exome":[393],"peripheral":[396],"blood":[397],"genomic":[398],"DNA":[399,519],"revealed":[403,426,527,540],"nonsynonymous":[405],"heterozygous":[406],"[c.97G>A":[410],"(p.Gly33Arg)],":[411],"which":[412,441,456],"confirmed":[414],"Sanger":[416],"1d).":[419],"Subsequent":[420],"PSEN1":[425],"mutations.":[428],"c.97G>A":[430,531],"does":[432],"not":[433,488],"appear":[434],"Human":[437],"Genetic":[438],"Variation":[439],"Database,":[440],"includes":[442,457],"1208":[443],"exome":[444,515],"datasets":[445],"controls":[448],"(http://www.hgvd.genome.med.kyoto-u.ac.jp/index.html)":[449],"gnomAD":[453],"Database":[454],"(http://gnomad.broadinstitute.org/),":[455],"data":[458],"123":[460],"136":[461],"whole\u2010exomes":[462],"15":[464],"496":[465],"whole\u2010genomes.":[466],"silico":[468],"analysis":[469],"PolyPhen\u20102":[471],"(http://genetics.bwh.harvard.edu/pph2/),":[472],"SIFT":[473],"(https://sift.bii.a-star.edu.sg/),":[474],"PROVEAN":[475],"(http://provean.jcvi.org/)":[476],"MutationTaster":[478],"(http://www.mutationtaster.org/)":[479],"predict":[480,672],"be":[484,547,748,807,857],"\u2018damaging\u2019.":[485],"did":[487],"identify":[489],"potentially":[490],"pathogenic":[491],"any":[494,507],"implicated":[497],"HS.":[499,538],"Additionally,":[500,786],"we":[501,815],"potential":[504],"related":[509],"dataset.":[516],"Sequencing":[517],"five":[522,599],"members":[523],"co\u2010segregation":[528],"disease":[535,753],"phenotype":[536],"lower":[548,568],"than":[553,574],"1e,":[559],"f).":[560],"Further,":[561],"immunoreactivities":[562],"lesional":[572],"1g\u2013i).":[580],"Several":[581],"facts":[582],"support":[583],"pathogenicity":[585],"p.Gly33Arg.":[587],"Firstly,":[588],"completely":[592],"segregated":[593],"phenotypes":[597],"individuals":[600],"pedigree.":[603],"Secondly,":[604],"affects":[607],"residue":[609],"highly":[612],"conserved":[613],"among":[614],"seven":[615],"different":[616],"species":[617],"(confirmed":[618],"MutationTaster).":[620],"Thirdly,":[621],"protein":[622],"function":[623],"prediction":[624],"browsers":[625],"attribute":[626],"very":[627],"high":[628],"scores":[629],"damage":[631],"mutation.":[634],"Finally,":[635],"lies":[638],"signal":[641,659,678,691],"peptide":[642,692],"region":[643],"nicastrin.":[645],"present":[647],"substitution":[648],"located":[650,690],"at":[651,749,871],"last":[653],"amino":[654],"acid":[655],"estimated":[658],"peptide.":[660],"deployed":[662],"two":[663],"useful":[664],"tools,":[665],"SignalP":[666],"(http://www.cbs.dtu.dk/services/SignalP/)":[667],"PrediSi":[669],"(http://www.predisi.de/),":[670],"site":[675],"peptides.":[679],"Both":[680],"tools":[681],"determined":[682],"mutant":[685],"might":[687,856],"aberrantly":[689],"sites.":[694],"Moreover,":[695],"our":[696,898],"expression":[697,704],"analyses":[698,719],"immunohistochemistry":[700],"suggested":[701],"decreased":[702],"dysfunction":[707],"signalling.":[712],"These":[713],"findings":[714,899],"consistent":[716],"immunohistochemical":[718],"previous":[721],"reports.5":[722],"Notably,":[723],"six":[726],"this":[731,892,915],"failure.":[737],"It":[738,935],"known":[740],"people":[742],"long\u2010term":[744],"inflammation":[746],"may":[747,806],"risk":[750,809],"inflammation.6":[757],"Krueger":[758],"Brunner":[760],"effect":[763],"IL\u201017":[765,787,801],"inflammatory":[767,827,854],"pathways":[768],"cells":[770,782],"various":[772],"types,":[773],"keratinocytes,":[776],"as":[777,779,798,839,859],"well":[778],"epithelial":[781],"kidney.6":[785],"upregulation":[788],"has":[789,908],"demonstrated":[791],"HS.7":[793,876],"Chronic":[794],"inflammation,":[796],"such":[797],"upregulation,":[802],"factor":[810],"Recently,":[814],"proposed":[816,843],"new":[818],"umbrella":[819],"term":[820],"\u2018autoinflammatory":[821],"keratinization":[822,828],"diseases\u2019":[823],"(AIKDs)":[824],"encompass":[826],"disorders":[829],"autoinflammatory":[831],"mechanisms.8":[832],"De":[833],"Vita":[834],"McGonagle":[836],"AIKD.7":[841],"They":[842],"histological":[845],"psoriasiform":[846],"interfollicular":[850],"subepidermal":[853],"infiltrates":[855],"interpreted":[858],"inflammation\u2010driven":[861],"process":[862],"basically":[863],"identical":[864],"evident":[870],"terminal":[873],"lesions":[879],"observed":[890],"Thus,":[897],"clearly":[900],"demonstrate":[901],"caused":[904],"features":[909],"characteristic":[910],"AIKD.":[912],"Funding":[913],"sources:":[914],"work":[916],"supported":[918,938],"funding":[920],"Japan":[923,961],"Agency":[924],"Medical":[926],"Research":[927,944],"Development":[929],"JP18ek0109295h0002":[930],"18ek0109281h0002":[932],"M.A.":[934,948],"Grant\u2010in\u2010Aid":[941,952],"Scientific":[943],"(B)":[945],"18H02832":[946],"Young":[954],"Scientists":[955],"18K16058":[956],"T.T.":[958],"Society":[962],"Promotion":[965],"Science.":[967],"Conflicts":[968],"interest:":[970],"none":[971],"declare.":[973]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":11}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-08-22T00:00:00"}