{"id":"https://openalex.org/W1998004873","doi":"https://doi.org/10.1016/s0161-5890(99)00035-8","title":"Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice","display_name":"Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice","publication_year":1999,"publication_date":"1999-02-01","ids":{"openalex":"https://openalex.org/W1998004873","doi":"https://doi.org/10.1016/s0161-5890(99)00035-8","mag":"1998004873","pmid":"https://pubmed.ncbi.nlm.nih.gov/10403482"},"language":"en","primary_location":{"id":"doi:10.1016/s0161-5890(99)00035-8","doi":"https://doi.org/10.1016/s0161-5890(99)00035-8","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0161-5890(99)00035-8","pdf_url":null,"source":{"id":"https://openalex.org/S92126311","display_name":"Molecular Immunology","issn_l":"0161-5890","issn":["0161-5890","1872-9142"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"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":"Molecular Immunology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","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/A5077302312","display_name":"Shinichiro Saito","orcid":"https://orcid.org/0000-0002-2721-248X","observed_orcids":["https://orcid.org/0000-0002-2721-248X"]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shinichiro Saito","raw_affiliation_strings":["Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Microbiology, Mount Sinai School of Medicine, New York, NY 10029, USA","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103499802","display_name":"Hiroyuki Nishimura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroyuki Nishimura","raw_affiliation_strings":["Department of Medical Chemistry, Faculty of Medicine, Kyoto University, Yoshida-Konoe, Sakyo, Kyoto, 606, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Chemistry, Faculty of Medicine, Kyoto University, Yoshida-Konoe, Sakyo, Kyoto, 606, Japan","institution_ids":["https://openalex.org/I22299242"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028088897","display_name":"Teodor\u2010D. Brumeanu","orcid":"https://orcid.org/0000-0002-1112-7643","observed_orcids":["https://orcid.org/0000-0002-1112-7643"]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Teodor-D Brumeanu","raw_affiliation_strings":["Department of Microbiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Microbiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069197438","display_name":"Sofia A. Casares","orcid":"https://orcid.org/0000-0002-3789-3354","observed_orcids":["https://orcid.org/0000-0002-3789-3354"]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sofia Casares","raw_affiliation_strings":["Department of Microbiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Microbiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114137638","display_name":"Alexandru Constantin Stan","orcid":"https://orcid.org/0000-0001-7976-2363","observed_orcids":["https://orcid.org/0000-0001-7976-2363"]},"institutions":[{"id":"https://openalex.org/I34809795","display_name":"Medizinische Hochschule Hannover","ror":"https://ror.org/00f2yqf98","country_code":"DE","type":"education","lineage":["https://openalex.org/I34809795"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["DE","US"],"is_corresponding":false,"raw_author_name":"Alexandru C. Stan","raw_affiliation_strings":["Department of Microbiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA","Institute of Neuropathology, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Microbiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Institute of Neuropathology, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany","institution_ids":["https://openalex.org/I34809795"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019039647","display_name":"Tasuku Honjo","orcid":"https://orcid.org/0000-0003-2300-3928","observed_orcids":["https://orcid.org/0000-0003-2300-3928"]},"institutions":[{"id":"https://openalex.org/I22299242","display_name":"Kyoto University","ror":"https://ror.org/02kpeqv85","country_code":"JP","type":"education","lineage":["https://openalex.org/I22299242"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tasuku Honjo","raw_affiliation_strings":["Department of Medical Chemistry, Faculty of Medicine, Kyoto University, Yoshida-Konoe, Sakyo, Kyoto, 606, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Chemistry, Faculty of Medicine, Kyoto University, Yoshida-Konoe, Sakyo, Kyoto, 606, Japan","institution_ids":["https://openalex.org/I22299242"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108523549","display_name":"Constantin A. Bona","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Constantin A. Bona","raw_affiliation_strings":["Department of Microbiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Microbiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA","institution_ids":["https://openalex.org/I98704320"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5108523549"],"corresponding_institution_ids":["https://openalex.org/I98704320"],"apc_list":{"value":3340,"currency":"USD","value_usd":3340},"apc_paid":null,"fwci":2.5702,"has_fulltext":false,"cited_by_count":44,"citation_normalized_percentile":{"value":0.89367689,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"36","issue":"3","first_page":"169","last_page":"176"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.975600004196167,"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":0.975600004196167,"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/T11330","display_name":"Systemic Sclerosis and Related Diseases","score":0.016599999740719795,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.002099999925121665,"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/fibrillin-1","display_name":"fibrillin-1","score":0.9940000176429749},{"id":"https://openalex.org/keywords/gene-duplication","display_name":"gene duplication","score":0.8209999799728394},{"id":"https://openalex.org/keywords/skin-fibrosis","display_name":"skin fibrosis","score":0.7799999713897705},{"id":"https://openalex.org/keywords/systemic-sclerosis","display_name":"systemic sclerosis","score":0.8059999942779541},{"id":"https://openalex.org/keywords/extracellular-matrix","display_name":"extracellular matrix","score":0.7799999713897705},{"id":"https://openalex.org/keywords/elastic-fibers","display_name":"elastic fibers","score":0.7390000224113464},{"id":"https://openalex.org/keywords/microfibrils","display_name":"microfibrils","score":0.8259999752044678},{"id":"https://openalex.org/keywords/protein-secretion","display_name":"protein secretion","score":0.6259999871253967},{"id":"https://openalex.org/keywords/genetic-disorders","display_name":"genetic disorders","score":0.3449999988079071}],"concepts":[{"id":"https://openalex.org/C76334062","wikidata":"https://www.wikidata.org/wiki/Q2909678","display_name":"Fibrillin","level":3,"score":0.8258965015411377},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6890700459480286},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6519967317581177},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6472194194793701},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.6237970590591431},{"id":"https://openalex.org/C189165786","wikidata":"https://www.wikidata.org/wiki/Q193825","display_name":"Extracellular matrix","level":2,"score":0.5763705968856812},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5587612986564636},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.47028329968452454},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4593093991279602},{"id":"https://openalex.org/C207583985","wikidata":"https://www.wikidata.org/wiki/Q128723","display_name":"Wild type","level":4,"score":0.4453127980232239},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3456287980079651},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.24355807900428772}],"mesh":[{"descriptor_ui":"D000071837","descriptor_name":"Fibrillins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071838","descriptor_name":"Fibrillin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008817","descriptor_name":"Mice, Mutant Strains","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016212","descriptor_name":"Transforming Growth Factor beta","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016326","descriptor_name":"Extracellular Matrix Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016326","descriptor_name":"Extracellular Matrix Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016326","descriptor_name":"Extracellular Matrix Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D019556","descriptor_name":"COS Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020440","descriptor_name":"Gene Duplication","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054392","descriptor_name":"Adipokines","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0161-5890(99)00035-8","doi":"https://doi.org/10.1016/s0161-5890(99)00035-8","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0161-5890(99)00035-8","pdf_url":null,"source":{"id":"https://openalex.org/S92126311","display_name":"Molecular Immunology","issn_l":"0161-5890","issn":["0161-5890","1872-9142"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2"],"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":"Molecular Immunology","raw_type":"journal-article"},{"id":"pmid:10403482","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10403482","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":"Molecular immunology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1437161905","display_name":"CELLULAR AND MOLECULAR STUDIES OF AUTOIMMUNE DISEASES","funder_award_id":"P01AI024671","funder_id":"https://openalex.org/F4320337355","funder_display_name":"National Institute of Allergy and Infectious Diseases"}],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337355","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W326957580","https://openalex.org/W1508850474","https://openalex.org/W1528069644","https://openalex.org/W1531309388","https://openalex.org/W1550325341","https://openalex.org/W1555580499","https://openalex.org/W1972024873","https://openalex.org/W1976372248","https://openalex.org/W1985498506","https://openalex.org/W1993125530","https://openalex.org/W2014584186","https://openalex.org/W2040247385","https://openalex.org/W2047393436","https://openalex.org/W2048531244","https://openalex.org/W2055101039","https://openalex.org/W2055779465","https://openalex.org/W2062722899","https://openalex.org/W2066193611","https://openalex.org/W2066766358","https://openalex.org/W2078227152","https://openalex.org/W2082601300","https://openalex.org/W2129241688","https://openalex.org/W2153114074","https://openalex.org/W2163125688","https://openalex.org/W2165449806","https://openalex.org/W2170121771","https://openalex.org/W2415458471"],"related_works":["https://openalex.org/W2066193611","https://openalex.org/W16286550","https://openalex.org/W2004913444","https://openalex.org/W7094255001","https://openalex.org/W2163125688","https://openalex.org/W2163089221","https://openalex.org/W4404801860","https://openalex.org/W2082601300","https://openalex.org/W1986704160","https://openalex.org/W2076049729"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}