{"id":"https://openalex.org/W2104941569","doi":"https://doi.org/10.1093/ckj/sft027","title":"Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation","display_name":"Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation","publication_year":2013,"publication_date":"2013-03-29","ids":{"openalex":"https://openalex.org/W2104941569","doi":"https://doi.org/10.1093/ckj/sft027","mag":"2104941569","pmid":"https://pubmed.ncbi.nlm.nih.gov/26064488","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4400474"},"language":"en","primary_location":{"id":"doi:10.1093/ckj/sft027","doi":"https://doi.org/10.1093/ckj/sft027","is_oa":true,"landing_page_url":"https://doi.org/10.1093/ckj/sft027","pdf_url":"https://academic.oup.com/ckj/article-pdf/6/3/295/1186905/sft027.pdf","source":{"id":"https://openalex.org/S117236744","display_name":"Clinical Kidney Journal","issn_l":"2048-8505","issn":["2048-8505","2048-8513"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-70","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Kidney Journal","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/ckj/article-pdf/6/3/295/1186905/sft027.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5044294618","display_name":"Norifumi Hayashi","orcid":"https://orcid.org/0009-0002-8741-1090","observed_orcids":["https://orcid.org/0009-0002-8741-1090"]},"institutions":[{"id":"https://openalex.org/I16568816","display_name":"Kanazawa Medical University","ror":"https://ror.org/0535cbe18","country_code":"JP","type":"education","lineage":["https://openalex.org/I16568816"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"N. Hayashi","raw_affiliation_strings":["Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan","institution_ids":["https://openalex.org/I16568816"]}]},{"author_position":"middle","author":{"id":null,"display_name":"H. Okuyama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16568816","display_name":"Kanazawa Medical University","ror":"https://ror.org/0535cbe18","country_code":"JP","type":"education","lineage":["https://openalex.org/I16568816"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Okuyama","raw_affiliation_strings":["Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan","institution_ids":["https://openalex.org/I16568816"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101929232","display_name":"Yuki Matsui","orcid":"https://orcid.org/0000-0003-4219-2437","observed_orcids":["https://orcid.org/0000-0003-4219-2437","https://orcid.org/0000-0001-7725-6088"]},"institutions":[{"id":"https://openalex.org/I16568816","display_name":"Kanazawa Medical University","ror":"https://ror.org/0535cbe18","country_code":"JP","type":"education","lineage":["https://openalex.org/I16568816"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Matsui","raw_affiliation_strings":["Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan","institution_ids":["https://openalex.org/I16568816"]}]},{"author_position":"middle","author":{"id":null,"display_name":"H. Yamaya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16568816","display_name":"Kanazawa Medical University","ror":"https://ror.org/0535cbe18","country_code":"JP","type":"education","lineage":["https://openalex.org/I16568816"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Yamaya","raw_affiliation_strings":["Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan","institution_ids":["https://openalex.org/I16568816"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111766677","display_name":"Emiko Kinoshita","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16568816","display_name":"Kanazawa Medical University","ror":"https://ror.org/0535cbe18","country_code":"JP","type":"education","lineage":["https://openalex.org/I16568816"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"E. Kinoshita","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Kanazawa Medical University, Uchinada, Ishikawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Kanazawa Medical University, Uchinada, Ishikawa, Japan","institution_ids":["https://openalex.org/I16568816"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052337090","display_name":"Hiroshi Minato","orcid":"https://orcid.org/0000-0003-2166-2874","observed_orcids":["https://orcid.org/0000-0003-2166-2874"]},"institutions":[{"id":"https://openalex.org/I16568816","display_name":"Kanazawa Medical University","ror":"https://ror.org/0535cbe18","country_code":"JP","type":"education","lineage":["https://openalex.org/I16568816"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Minato","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Kanazawa Medical University, Uchinada, Ishikawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Kanazawa Medical University, Uchinada, Ishikawa, Japan","institution_ids":["https://openalex.org/I16568816"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064500893","display_name":"Yo Niida","orcid":"https://orcid.org/0000-0001-5641-7962","observed_orcids":["https://orcid.org/0000-0001-5641-7962"]},"institutions":[{"id":"https://openalex.org/I16568816","display_name":"Kanazawa Medical University","ror":"https://ror.org/0535cbe18","country_code":"JP","type":"education","lineage":["https://openalex.org/I16568816"]},{"id":"https://openalex.org/I4210128349","display_name":"Kanazawa Medical University Hospital","ror":"https://ror.org/03q129k63","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210128349"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Niida","raw_affiliation_strings":["Center for Medical Genetics, Kanazawa Medical University, Uchinada, Ishikawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Medical Genetics, Kanazawa Medical University, Uchinada, Ishikawa, Japan","institution_ids":["https://openalex.org/I16568816","https://openalex.org/I4210128349"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103063249","display_name":"Hitoshi Yokoyama","orcid":"https://orcid.org/0000-0002-7753-1366","observed_orcids":["https://orcid.org/0000-0002-7753-1366"]},"institutions":[{"id":"https://openalex.org/I16568816","display_name":"Kanazawa Medical University","ror":"https://ror.org/0535cbe18","country_code":"JP","type":"education","lineage":["https://openalex.org/I16568816"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Yokoyama","raw_affiliation_strings":["Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan","institution_ids":["https://openalex.org/I16568816"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5044294618"],"corresponding_institution_ids":["https://openalex.org/I16568816"],"apc_list":{"value":2951,"currency":"EUR","value_usd":3335},"apc_paid":{"value":2951,"currency":"EUR","value_usd":3335},"fwci":0.0,"has_fulltext":true,"cited_by_count":7,"citation_normalized_percentile":{"value":0.18528824,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"6","issue":"3","first_page":"295","last_page":"299"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":0.9613999724388123,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T12460","display_name":"Pediatric Hepatobiliary Diseases and Treatments","score":0.9613999724388123,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.02250000089406967,"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/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.004699999932199717,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/alagille-syndrome","display_name":"Alagille syndrome","score":1.0},{"id":"https://openalex.org/keywords/jag1-mutation","display_name":"JAG1 mutation","score":0.7350000143051147},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.9559999704360962},{"id":"https://openalex.org/keywords/chronic-kidney-disease","display_name":"chronic kidney disease","score":0.7770000100135803},{"id":"https://openalex.org/keywords/proteinuria","display_name":"proteinuria","score":0.9980000257492065},{"id":"https://openalex.org/keywords/hemodialysis","display_name":"hemodialysis","score":0.8849999904632568},{"id":"https://openalex.org/keywords/autosomal-dominant-disorder","display_name":"autosomal dominant disorder","score":0.8370000123977661},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.41499999165534973},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.8840000033378601}],"concepts":[{"id":"https://openalex.org/C2780971011","wikidata":"https://www.wikidata.org/wiki/Q1544408","display_name":"Alagille syndrome","level":3,"score":0.9509934186935425},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8926498889923096},{"id":"https://openalex.org/C2778668844","wikidata":"https://www.wikidata.org/wiki/Q18251749","display_name":"JAG1","level":4,"score":0.8230910897254944},{"id":"https://openalex.org/C2779561371","wikidata":"https://www.wikidata.org/wiki/Q570197","display_name":"Proteinuria","level":3,"score":0.7459288835525513},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.6832048296928406},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.5048071146011353},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.48149335384368896},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4492378532886505},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.42831724882125854},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.41859015822410583},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.4080178439617157},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.3873295485973358},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12925761938095093},{"id":"https://openalex.org/C161879069","wikidata":"https://www.wikidata.org/wiki/Q904082","display_name":"Notch signaling pathway","level":3,"score":0.11493325233459473},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10918289422988892},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.06453436613082886},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0},{"id":"https://openalex.org/C2778593092","wikidata":"https://www.wikidata.org/wiki/Q1075923","display_name":"Cholestasis","level":2,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1093/ckj/sft027","doi":"https://doi.org/10.1093/ckj/sft027","is_oa":true,"landing_page_url":"https://doi.org/10.1093/ckj/sft027","pdf_url":"https://academic.oup.com/ckj/article-pdf/6/3/295/1186905/sft027.pdf","source":{"id":"https://openalex.org/S117236744","display_name":"Clinical Kidney Journal","issn_l":"2048-8505","issn":["2048-8505","2048-8513"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-70","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Kidney Journal","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3425009","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4400474","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4400474","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4400474","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clin Kidney J","raw_type":"Text"},{"id":"pmid:26064488","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26064488","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":"Clinical kidney journal","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1093/ckj/sft027","doi":"https://doi.org/10.1093/ckj/sft027","is_oa":true,"landing_page_url":"https://doi.org/10.1093/ckj/sft027","pdf_url":"https://academic.oup.com/ckj/article-pdf/6/3/295/1186905/sft027.pdf","source":{"id":"https://openalex.org/S117236744","display_name":"Clinical Kidney Journal","issn_l":"2048-8505","issn":["2048-8505","2048-8513"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-70","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Kidney Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320321945","display_name":"Ministry of Health, Labour and Welfare","ror":"https://ror.org/03mwa7s65"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2104941569.pdf","grobid_xml":"https://content.openalex.org/works/W2104941569.grobid-xml"},"referenced_works_count":14,"referenced_works":["https://openalex.org/W339299050","https://openalex.org/W1846386131","https://openalex.org/W1964105005","https://openalex.org/W2098206451","https://openalex.org/W2102188027","https://openalex.org/W2116087542","https://openalex.org/W2130262266","https://openalex.org/W2134283151","https://openalex.org/W2152448895","https://openalex.org/W2157058568","https://openalex.org/W2157340896","https://openalex.org/W2165213798","https://openalex.org/W2166970751","https://openalex.org/W2418488748"],"related_works":["https://openalex.org/W339299050","https://openalex.org/W2152448895","https://openalex.org/W7100911542","https://openalex.org/W2010576506","https://openalex.org/W4313361565","https://openalex.org/W7166825059","https://openalex.org/W2076630231","https://openalex.org/W2552242970","https://openalex.org/W4415918654","https://openalex.org/W4403734628"],"abstract_inverted_index":{"Alagille":[0],"syndrome":[1],"(AGS)":[2],"is":[3],"an":[4],"autosomal-dominant":[5],"multi-organ":[6],"disorder":[7],"involving":[8],"the":[9,41,84],"liver,":[10],"heart,":[11],"eyes,":[12],"face":[13],"and":[14,72],"skeleton.":[15],"In":[16,50],"addition,":[17],"various":[18],"renal":[19,48,68,89],"abnormalities":[20],"have":[21],"also":[22],"been":[23],"reported":[24],"in":[25,37,62,83,92],"several":[26],"cases.":[27],"We":[28],"describe":[29],"a":[30,33],"patient":[31],"with":[32,46,70],"novel":[34],"frameshift":[35],"mutation":[36],"exon":[38],"12":[39],"of":[40,55,74,87],"JAG1":[42],"gene":[43],"who":[44],"presented":[45],"chronic":[47],"failure.":[49],"this":[51],"family,":[52],"five":[53],"members":[54,65],"three":[56],"generations":[57],"had":[58,66],"clinical":[59],"features":[60],"implicated":[61],"AGS.":[63],"Three":[64],"adult-onset":[67],"dysfunction":[69],"proteinuria,":[71],"two":[73],"them":[75],"required":[76],"haemodialysis":[77],"therapy.":[78],"AGS":[79],"should":[80],"be":[81],"considered":[82],"differential":[85],"diagnosis":[86],"proteinuric":[88],"disease,":[90],"even":[91],"adult":[93],"patients.":[94]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}
