{"id":"https://openalex.org/W2010232168","doi":"https://doi.org/10.1038/jid.2013.482","title":"Analysis of Pseudoxanthoma Elasticum\u2013Causing Missense Mutants of ABCC6 In Vivo; Pharmacological Correction of the Mislocalized Proteins","display_name":"Analysis of Pseudoxanthoma Elasticum\u2013Causing Missense Mutants of ABCC6 In Vivo; Pharmacological Correction of the Mislocalized Proteins","publication_year":2013,"publication_date":"2013-11-11","ids":{"openalex":"https://openalex.org/W2010232168","doi":"https://doi.org/10.1038/jid.2013.482","mag":"2010232168","pmid":"https://pubmed.ncbi.nlm.nih.gov/24352041"},"language":"en","primary_location":{"id":"doi:10.1038/jid.2013.482","doi":"https://doi.org/10.1038/jid.2013.482","is_oa":true,"landing_page_url":"https://doi.org/10.1038/jid.2013.482","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","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1038/jid.2013.482","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5028797359","display_name":"Viola Pomozi","orcid":"https://orcid.org/0000-0002-5435-4993","observed_orcids":["https://orcid.org/0000-0002-5435-4993"]},"institutions":[{"id":"https://openalex.org/I4210151515","display_name":"Institute of Molecular Life Sciences","ror":"https://ror.org/04t4pws42","country_code":"HU","type":"facility","lineage":["https://openalex.org/I4210151515","https://openalex.org/I4387152226","https://openalex.org/I80251312"]},{"id":"https://openalex.org/I7597260","display_name":"Hungarian Academy of Sciences","ror":"https://ror.org/02ks8qq67","country_code":"HU","type":"government","lineage":["https://openalex.org/I7597260"]},{"id":"https://openalex.org/I80251312","display_name":"HUN-REN Research Centre for Natural Sciences","ror":"https://ror.org/03zwxja46","country_code":"HU","type":"facility","lineage":["https://openalex.org/I4387152226","https://openalex.org/I80251312"]}],"countries":["HU"],"is_corresponding":false,"raw_author_name":"Viola Pomozi","raw_affiliation_strings":["Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary","Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary","institution_ids":["https://openalex.org/I4210151515","https://openalex.org/I7597260","https://openalex.org/I80251312"]},{"raw_affiliation_string":"Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary;","institution_ids":["https://openalex.org/I4210151515","https://openalex.org/I7597260","https://openalex.org/I80251312"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023869871","display_name":"Christopher N. Brampton","orcid":"https://orcid.org/0009-0003-9026-181X","observed_orcids":["https://orcid.org/0009-0003-9026-181X"]},"institutions":[{"id":"https://openalex.org/I117965899","display_name":"University of Hawai\u02bbi at M\u0101noa","ror":"https://ror.org/01wspgy28","country_code":"US","type":"education","lineage":["https://openalex.org/I117965899"]},{"id":"https://openalex.org/I1331384533","display_name":"University of Hawaii System","ror":"https://ror.org/03tzaeb71","country_code":"US","type":"education","lineage":["https://openalex.org/I1331384533"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christopher Brampton","raw_affiliation_strings":["Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA","institution_ids":["https://openalex.org/I117965899","https://openalex.org/I1331384533"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083791951","display_name":"Krisztina F\u00fcl\u00f6p","orcid":"https://orcid.org/0000-0002-7453-6014","observed_orcids":["https://orcid.org/0000-0002-7453-6014"]},"institutions":[{"id":"https://openalex.org/I4210151515","display_name":"Institute of Molecular Life Sciences","ror":"https://ror.org/04t4pws42","country_code":"HU","type":"facility","lineage":["https://openalex.org/I4210151515","https://openalex.org/I4387152226","https://openalex.org/I80251312"]},{"id":"https://openalex.org/I7597260","display_name":"Hungarian Academy of Sciences","ror":"https://ror.org/02ks8qq67","country_code":"HU","type":"government","lineage":["https://openalex.org/I7597260"]},{"id":"https://openalex.org/I80251312","display_name":"HUN-REN Research Centre for Natural Sciences","ror":"https://ror.org/03zwxja46","country_code":"HU","type":"facility","lineage":["https://openalex.org/I4387152226","https://openalex.org/I80251312"]}],"countries":["HU"],"is_corresponding":false,"raw_author_name":"Krisztina F\u00fcl\u00f6p","raw_affiliation_strings":["Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary","Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary","institution_ids":["https://openalex.org/I4210151515","https://openalex.org/I7597260","https://openalex.org/I80251312"]},{"raw_affiliation_string":"Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary;","institution_ids":["https://openalex.org/I4210151515","https://openalex.org/I7597260","https://openalex.org/I80251312"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043911274","display_name":"Li-Hsieh Chen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I117965899","display_name":"University of Hawai\u02bbi at M\u0101noa","ror":"https://ror.org/01wspgy28","country_code":"US","type":"education","lineage":["https://openalex.org/I117965899"]},{"id":"https://openalex.org/I1331384533","display_name":"University of Hawaii System","ror":"https://ror.org/03tzaeb71","country_code":"US","type":"education","lineage":["https://openalex.org/I1331384533"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Li-Hsieh Chen","raw_affiliation_strings":["Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA","institution_ids":["https://openalex.org/I117965899","https://openalex.org/I1331384533"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033022548","display_name":"Ailea Apana","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I117965899","display_name":"University of Hawai\u02bbi at M\u0101noa","ror":"https://ror.org/01wspgy28","country_code":"US","type":"education","lineage":["https://openalex.org/I117965899"]},{"id":"https://openalex.org/I1331384533","display_name":"University of Hawaii System","ror":"https://ror.org/03tzaeb71","country_code":"US","type":"education","lineage":["https://openalex.org/I1331384533"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ailea Apana","raw_affiliation_strings":["Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA","institution_ids":["https://openalex.org/I117965899","https://openalex.org/I1331384533"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078146699","display_name":"Qiaoli Li","orcid":"https://orcid.org/0000-0002-8495-7103","observed_orcids":["https://orcid.org/0000-0002-8495-7103"]},"institutions":[{"id":"https://openalex.org/I149251103","display_name":"Thomas Jefferson University","ror":"https://ror.org/00ysqcn41","country_code":"US","type":"education","lineage":["https://openalex.org/I149251103"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Qiaoli Li","raw_affiliation_strings":["Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA","Department of Dermatology and Cutaneous Biology Thomas Jefferson University Philadelphia Pennsylvania USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I149251103"]},{"raw_affiliation_string":"Department of Dermatology and Cutaneous Biology Thomas Jefferson University Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I149251103"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032533037","display_name":"Jouni Uitto","orcid":"https://orcid.org/0000-0003-4639-807X","observed_orcids":["https://orcid.org/0000-0003-4639-807X"]},"institutions":[{"id":"https://openalex.org/I149251103","display_name":"Thomas Jefferson University","ror":"https://ror.org/00ysqcn41","country_code":"US","type":"education","lineage":["https://openalex.org/I149251103"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jouni Uitto","raw_affiliation_strings":["Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA","Department of Dermatology and Cutaneous Biology Thomas Jefferson University Philadelphia Pennsylvania USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I149251103"]},{"raw_affiliation_string":"Department of Dermatology and Cutaneous Biology Thomas Jefferson University Philadelphia Pennsylvania USA","institution_ids":["https://openalex.org/I149251103"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103812515","display_name":"Olivier Le Saux","orcid":"https://orcid.org/0000-0002-5605-3617","observed_orcids":["https://orcid.org/0000-0002-5605-3617"]},"institutions":[{"id":"https://openalex.org/I117965899","display_name":"University of Hawai\u02bbi at M\u0101noa","ror":"https://ror.org/01wspgy28","country_code":"US","type":"education","lineage":["https://openalex.org/I117965899"]},{"id":"https://openalex.org/I1331384533","display_name":"University of Hawaii System","ror":"https://ror.org/03tzaeb71","country_code":"US","type":"education","lineage":["https://openalex.org/I1331384533"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Olivier Le Saux","raw_affiliation_strings":["Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Molecular Biology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA","institution_ids":["https://openalex.org/I117965899","https://openalex.org/I1331384533"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101965055","display_name":"Andr\u00e1s V\u00e1radi","orcid":"https://orcid.org/0000-0002-2722-7120","observed_orcids":["https://orcid.org/0000-0002-2722-7120"]},"institutions":[{"id":"https://openalex.org/I4210151515","display_name":"Institute of Molecular Life Sciences","ror":"https://ror.org/04t4pws42","country_code":"HU","type":"facility","lineage":["https://openalex.org/I4210151515","https://openalex.org/I4387152226","https://openalex.org/I80251312"]},{"id":"https://openalex.org/I7597260","display_name":"Hungarian Academy of Sciences","ror":"https://ror.org/02ks8qq67","country_code":"HU","type":"government","lineage":["https://openalex.org/I7597260"]},{"id":"https://openalex.org/I80251312","display_name":"HUN-REN Research Centre for Natural Sciences","ror":"https://ror.org/03zwxja46","country_code":"HU","type":"facility","lineage":["https://openalex.org/I4387152226","https://openalex.org/I80251312"]}],"countries":["HU"],"is_corresponding":true,"raw_author_name":"Andr\u00e1s V\u00e1radi","raw_affiliation_strings":["Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary. Electronic address: varadi@enzim.hu","Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary. Electronic address: varadi@enzim.hu","institution_ids":["https://openalex.org/I4210151515","https://openalex.org/I7597260"]},{"raw_affiliation_string":"Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary;","institution_ids":["https://openalex.org/I4210151515","https://openalex.org/I7597260","https://openalex.org/I80251312"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5101965055"],"corresponding_institution_ids":["https://openalex.org/I4210151515","https://openalex.org/I7597260","https://openalex.org/I80251312"],"apc_list":{"value":3800,"currency":"USD","value_usd":3800},"apc_paid":null,"fwci":3.0315,"has_fulltext":false,"cited_by_count":53,"citation_normalized_percentile":{"value":0.91090238,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"134","issue":"4","first_page":"946","last_page":"953"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders","score":1.0,"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":1.0,"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/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pseudoxanthoma-elasticum","display_name":"pseudoxanthoma elasticum","score":0.9980000257492065},{"id":"https://openalex.org/keywords/abcc6","display_name":"ABCC6","score":0.8550000190734863},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9380000233650208},{"id":"https://openalex.org/keywords/generalized-arterial-calcification-of-infancy","display_name":"generalized arterial calcification of infancy","score":0.7149999737739563},{"id":"https://openalex.org/keywords/protein-mislocalization","display_name":"protein mislocalization","score":0.6029999852180481},{"id":"https://openalex.org/keywords/4-phenylbutyrate","display_name":"4-phenylbutyric acid","score":0.8550000190734863},{"id":"https://openalex.org/keywords/chemical-chaperones","display_name":"chemical chaperones","score":0.8709999918937683},{"id":"https://openalex.org/keywords/morpholino","display_name":"morpholino","score":0.7670000195503235},{"id":"https://openalex.org/keywords/elastic-fiber-calcification","display_name":"elastic tissue calcification","score":0.7480000257492065},{"id":"https://openalex.org/keywords/mdck-ii-cells","display_name":"MDCK II cells","score":0.6679999828338623},{"id":"https://openalex.org/keywords/mouse-liver","display_name":"mouse liver","score":0.515999972820282}],"concepts":[{"id":"https://openalex.org/C2778028898","wikidata":"https://www.wikidata.org/wiki/Q1052391","display_name":"Pseudoxanthoma elasticum","level":2,"score":0.8799442052841187},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6002203822135925},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5888074040412903},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5239329934120178},{"id":"https://openalex.org/C2776878037","wikidata":"https://www.wikidata.org/wiki/Q169444","display_name":"Zebrafish","level":3,"score":0.458500474691391},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.45564278960227966},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.42702287435531616},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4250662922859192},{"id":"https://openalex.org/C2780309369","wikidata":"https://www.wikidata.org/wiki/Q933382","display_name":"Calcification","level":2,"score":0.42422330379486084},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2995898723602295},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17951399087905884},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.15878838300704956}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","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":"D000818","descriptor_name":"Animals","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":"D000818","descriptor_name":"Animals","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":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002462","descriptor_name":"Cell Membrane","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002462","descriptor_name":"Cell Membrane","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002462","descriptor_name":"Cell Membrane","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002462","descriptor_name":"Cell Membrane","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002462","descriptor_name":"Cell Membrane","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004285","descriptor_name":"Dogs","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004285","descriptor_name":"Dogs","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004285","descriptor_name":"Dogs","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004285","descriptor_name":"Dogs","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004285","descriptor_name":"Dogs","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":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","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":"D007313","descriptor_name":"Insecta","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007313","descriptor_name":"Insecta","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007313","descriptor_name":"Insecta","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007313","descriptor_name":"Insecta","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007313","descriptor_name":"Insecta","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008810","descriptor_name":"Mice, Inbred C57BL","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":"D008810","descriptor_name":"Mice, Inbred C57BL","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":"D008810","descriptor_name":"Mice, Inbred C57BL","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":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","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":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","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":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010654","descriptor_name":"Phenylbutyrates","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D010654","descriptor_name":"Phenylbutyrates","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D010654","descriptor_name":"Phenylbutyrates","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D010654","descriptor_name":"Phenylbutyrates","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D010654","descriptor_name":"Phenylbutyrates","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011561","descriptor_name":"Pseudoxanthoma Elasticum","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011561","descriptor_name":"Pseudoxanthoma Elasticum","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011561","descriptor_name":"Pseudoxanthoma Elasticum","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011561","descriptor_name":"Pseudoxanthoma Elasticum","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011561","descriptor_name":"Pseudoxanthoma Elasticum","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017510","descriptor_name":"Protein Folding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017510","descriptor_name":"Protein Folding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017510","descriptor_name":"Protein Folding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017510","descriptor_name":"Protein Folding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017510","descriptor_name":"Protein Folding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018528","descriptor_name":"ATP-Binding Cassette Transporters","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018528","descriptor_name":"ATP-Binding Cassette Transporters","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018528","descriptor_name":"ATP-Binding Cassette Transporters","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018528","descriptor_name":"ATP-Binding Cassette Transporters","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018528","descriptor_name":"ATP-Binding Cassette Transporters","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D027425","descriptor_name":"Multidrug Resistance-Associated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D027425","descriptor_name":"ATP-Binding Cassette, Sub-Family C Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D027425","descriptor_name":"ATP-Binding Cassette, Sub-Family C Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D027425","descriptor_name":"ATP-Binding Cassette, Sub-Family C Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D027425","descriptor_name":"Multidrug Resistance-Associated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061985","descriptor_name":"Madin Darby Canine Kidney Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061985","descriptor_name":"Madin Darby Canine Kidney Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061985","descriptor_name":"Madin Darby Canine Kidney Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061985","descriptor_name":"Madin Darby Canine Kidney Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061985","descriptor_name":"Madin Darby Canine Kidney Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1038/jid.2013.482","doi":"https://doi.org/10.1038/jid.2013.482","is_oa":true,"landing_page_url":"https://doi.org/10.1038/jid.2013.482","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:24352041","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24352041","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":"Journal Article"},{"id":"pmh:oai:real.mtak.hu:12985","doi":null,"is_oa":false,"landing_page_url":"http://real.mtak.hu/12985/1/ARTICLE%20JID%20final_1.pdf","pdf_url":"http://real.mtak.hu/12985/1/ARTICLE%20JID%20final_1.pdf","source":{"id":"https://openalex.org/S4306400081","display_name":"Repository of the Academy's Library (Library of the Hungarian Academy of Sciences)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210140733","host_organization_name":"Library and Information Centre of the Hungarian Academy of Sciences","host_organization_lineage":["https://openalex.org/I4210140733"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3962510","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3962510","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J Invest Dermatol","raw_type":"Text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.803.1867","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.803.1867","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/43/49/nihms536507.PMC3962510.pdf","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1038/jid.2013.482","doi":"https://doi.org/10.1038/jid.2013.482","is_oa":true,"landing_page_url":"https://doi.org/10.1038/jid.2013.482","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":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.4699999988079071,"id":"https://metadata.un.org/sdg/14","display_name":"Life below water"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1423756172","display_name":null,"funder_award_id":"R01-AR28450","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G1649165952","display_name":null,"funder_award_id":"K104227","funder_id":"https://openalex.org/F4320321994","funder_display_name":"Hungarian Scientific Research Fund"},{"id":"https://openalex.org/G2380416762","display_name":null,"funder_award_id":"11GRNT5840005","funder_id":"https://openalex.org/F4320306230","funder_display_name":"American Heart Association"},{"id":"https://openalex.org/G2551434997","display_name":null,"funder_award_id":"R01AR055225","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G3337588682","display_name":"The Role of ABCC6 In Chronic & Acute Cardiovascular Mineralization","funder_award_id":"R01HL108249","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G3851789993","display_name":"Biochemistry and Morphology of Connective Tissue","funder_award_id":"R01AR028450","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G5063703857","display_name":null,"funder_award_id":"NK 81204","funder_id":"https://openalex.org/F4320321994","funder_display_name":"Hungarian Scientific Research Fund"},{"id":"https://openalex.org/G5714495629","display_name":null,"funder_award_id":"K01 AR064766","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G6675472093","display_name":null,"funder_award_id":"11ADVC-49234","funder_id":"https://openalex.org/F4320306371","funder_display_name":"Hawaii Community Foundation"},{"id":"https://openalex.org/G824016691","display_name":null,"funder_award_id":"R01 AR-55225","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G9000061065","display_name":null,"funder_award_id":"R01 AR55225","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320306230","display_name":"American Heart Association","ror":"https://ror.org/013kjyp64"},{"id":"https://openalex.org/F4320306371","display_name":"Hawaii Community Foundation","ror":"https://ror.org/03jwgbj27"},{"id":"https://openalex.org/F4320306673","display_name":"Dermatology Foundation","ror":"https://ror.org/04xy3z086"},{"id":"https://openalex.org/F4320321994","display_name":"Hungarian Scientific Research Fund","ror":"https://ror.org/00v349e63"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":37,"referenced_works":["https://openalex.org/W1550826473","https://openalex.org/W1972799369","https://openalex.org/W1978067812","https://openalex.org/W1981850419","https://openalex.org/W1997403604","https://openalex.org/W2000220374","https://openalex.org/W2018848398","https://openalex.org/W2037274902","https://openalex.org/W2037718729","https://openalex.org/W2054214883","https://openalex.org/W2055652585","https://openalex.org/W2056126457","https://openalex.org/W2061164361","https://openalex.org/W2061476769","https://openalex.org/W2066269649","https://openalex.org/W2070669725","https://openalex.org/W2071949994","https://openalex.org/W2077260227","https://openalex.org/W2081173141","https://openalex.org/W2081708695","https://openalex.org/W2084422700","https://openalex.org/W2102134170","https://openalex.org/W2103634965","https://openalex.org/W2105141857","https://openalex.org/W2113854172","https://openalex.org/W2116723865","https://openalex.org/W2123505868","https://openalex.org/W2124895322","https://openalex.org/W2149735643","https://openalex.org/W2150912228","https://openalex.org/W2152533506","https://openalex.org/W2159854260","https://openalex.org/W2161360481","https://openalex.org/W2170734806","https://openalex.org/W2313825712","https://openalex.org/W2409673936","https://openalex.org/W6665744905"],"related_works":["https://openalex.org/W2011120554","https://openalex.org/W4366262959","https://openalex.org/W4383958615","https://openalex.org/W2057687791","https://openalex.org/W2398397356","https://openalex.org/W2328038431","https://openalex.org/W2400555302","https://openalex.org/W2147909867","https://openalex.org/W4249633806","https://openalex.org/W1995076792"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":8},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-19T09:35:57.686232","created_date":"2025-10-10T00:00:00"}
