{"id":"https://openalex.org/W2099693606","doi":"https://doi.org/10.1093/ndt/11.supp6.10","title":"Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease","display_name":"Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease","publication_year":1996,"publication_date":"1996-01-01","ids":{"openalex":"https://openalex.org/W2099693606","doi":"https://doi.org/10.1093/ndt/11.supp6.10","mag":"2099693606","pmid":"https://pubmed.ncbi.nlm.nih.gov/9044320"},"language":"en","primary_location":{"id":"doi:10.1093/ndt/11.supp6.10","doi":"https://doi.org/10.1093/ndt/11.supp6.10","is_oa":false,"landing_page_url":"https://doi.org/10.1093/ndt/11.supp6.10","pdf_url":null,"source":{"id":"https://openalex.org/S186113128","display_name":"Nephrology Dialysis Transplantation","issn_l":"0931-0509","issn":["0931-0509","1460-2385"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","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":"Nephrology Dialysis Transplantation","raw_type":"journal-article"},"volume":null,"type":"article","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/A5019634289","display_name":"Alberto E. Turco","orcid":"https://orcid.org/0000-0002-3476-7694","observed_orcids":["https://orcid.org/0000-0002-3476-7694"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"A. E. Turco","raw_affiliation_strings":["Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000198802","display_name":"Sandro Rossetti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S. Rossetti","raw_affiliation_strings":["Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma Verona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma Verona","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086863291","display_name":"Elena Bresin","orcid":"https://orcid.org/0000-0003-4198-2891","observed_orcids":["https://orcid.org/0000-0003-4198-2891"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"E. Bresin","raw_affiliation_strings":["Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma Verona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma Verona","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082459705","display_name":"Stefano Corr\u00e0","orcid":"https://orcid.org/0000-0001-8077-8303","observed_orcids":["https://orcid.org/0000-0001-8077-8303"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S. Corra","raw_affiliation_strings":["Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma Verona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma Verona","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103570174","display_name":"Gabriella Restagno","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097265","display_name":"Azienda Ospedaliero Universitaria San Giovanni Battista","ror":"https://ror.org/00nrtez23","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210097265"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"G. Restagno","raw_affiliation_strings":["Medical Genetics Service, \u2018S. Giovanni Battista\u2019 Hospital Torino"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Service, \u2018S. Giovanni Battista\u2019 Hospital Torino","institution_ids":["https://openalex.org/I4210097265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111807965","display_name":"Angelo Oscar Carbonara","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A. Carbonara","raw_affiliation_strings":["Department of Biology, Genetics and Medical Chemistry, CNR/CIOS, University of Torino Ceva, Cuneo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Genetics and Medical Chemistry, CNR/CIOS, University of Torino Ceva, Cuneo","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003862540","display_name":"Ornella De Prisco","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"O. De Prisco","raw_affiliation_strings":["USL 67 Nephrology and Dialysis Service Ceva, Cuneo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"USL 67 Nephrology and Dialysis Service Ceva, Cuneo","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090984314","display_name":"Linda Gammaro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"L. Gammaro","raw_affiliation_strings":["Division of Medical Nephrology, University of Verona Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Nephrology, University of Verona Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073041271","display_name":"Giuseppe Maschio","orcid":"https://orcid.org/0000-0003-0137-2028","observed_orcids":["https://orcid.org/0000-0003-0137-2028"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"G. Maschio","raw_affiliation_strings":["Division of Medical Nephrology, University of Verona Verona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Nephrology, University of Verona Verona, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109187394","display_name":"Pier Franco Pignatti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"P. F. Pignatti","raw_affiliation_strings":["Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma Verona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma Verona","institution_ids":["https://openalex.org/I119439378"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5019634289"],"corresponding_institution_ids":["https://openalex.org/I119439378"],"apc_list":{"value":3474,"currency":"EUR","value_usd":3926},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.19224875,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"11","issue":"supp6","first_page":"10","last_page":"12"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","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/T11412","display_name":"Genetic and Kidney Cyst Diseases","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/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/autosomal-dominant-polycystic-kidney-disease","display_name":"autosomal dominant polycystic kidney disease","score":0.9919999837875366},{"id":"https://openalex.org/keywords/pkd1-gene","display_name":"PKD1 gene","score":1.0},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.9860000014305115},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.8769999742507935},{"id":"https://openalex.org/keywords/restriction-site-mutations","display_name":"restriction site mutations","score":0.5360000133514404},{"id":"https://openalex.org/keywords/heteroduplex-analysis","display_name":"heteroduplex analysis","score":0.7459999918937683},{"id":"https://openalex.org/keywords/italian-families","display_name":"Italian families","score":0.5440000295639038}],"concepts":[{"id":"https://openalex.org/C100773827","wikidata":"https://www.wikidata.org/wiki/Q82302467","display_name":"PKD1","level":4,"score":0.9696012139320374},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7261571884155273},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7228524684906006},{"id":"https://openalex.org/C2776266639","wikidata":"https://www.wikidata.org/wiki/Q2732398","display_name":"Autosomal dominant polycystic kidney disease","level":3,"score":0.6598033905029297},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6294968128204346},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6152989268302917},{"id":"https://openalex.org/C134494468","wikidata":"https://www.wikidata.org/wiki/Q408140","display_name":"Heteroduplex","level":3,"score":0.611037015914917},{"id":"https://openalex.org/C2780145431","wikidata":"https://www.wikidata.org/wiki/Q15443105","display_name":"Polycystic kidney disease","level":3,"score":0.5908333659172058},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5522428154945374},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4764414429664612},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42067885398864746},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4204399585723877},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4019473195075989},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.40154364705085754},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.1965378224849701}],"mesh":[{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009692","descriptor_name":"Nucleic Acid Heteroduplexes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014158","descriptor_name":"Transcription, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016891","descriptor_name":"Polycystic Kidney, Autosomal Dominant","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050396","descriptor_name":"TRPP Cation Channels","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/ndt/11.supp6.10","doi":"https://doi.org/10.1093/ndt/11.supp6.10","is_oa":false,"landing_page_url":"https://doi.org/10.1093/ndt/11.supp6.10","pdf_url":null,"source":{"id":"https://openalex.org/S186113128","display_name":"Nephrology Dialysis Transplantation","issn_l":"0931-0509","issn":["0931-0509","1460-2385"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","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":"Nephrology Dialysis Transplantation","raw_type":"journal-article"},{"id":"pmid:9044320","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9044320","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":"Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2065225319","https://openalex.org/W2157926899","https://openalex.org/W2006000054","https://openalex.org/W3006832654","https://openalex.org/W96946638","https://openalex.org/W2614370984","https://openalex.org/W2103159682","https://openalex.org/W2166589377","https://openalex.org/W2427336306","https://openalex.org/W4396990271"],"abstract_inverted_index":{"Sixty-seven":[0],"Italian":[1],"patients":[2],"with":[3,51],"autosomal":[4],"dominant":[5],"polycystic":[6],"kidney":[7],"disease":[8],"(ADPKD)":[9],"were":[10,58,103],"screened":[11],"for":[12,32],"mutations":[13,95,135],"in":[14,44,60,67,78,86,105,137],"the":[15,68,71,100,107,119,122,132,138],"PKD1":[16,139],"gene.":[17,140],"We":[18,40],"used":[19],"PCR,":[20],"heteroduplex":[21],"and":[22,28,38,99,121],"single-strand":[23],"conformation":[24],"polymorphism":[25],"DNA":[26,30,75],"analysis,":[27],"automated":[29],"sequencing":[31,76],"exons":[33],"35,":[34],"36,":[35],"38,":[36],"44":[37],"45.":[39],"detected":[41],"abnormal":[42,101],"heteroduplexes":[43],"affected":[45,108],"individuals":[46],"from":[47],"two":[48],"unrelated":[49],"families":[50,73],"clinically":[52],"severe":[53],"ADPKD":[54],"phenotype.":[55],"These":[56],"changes":[57],"absent":[59],"other,":[61],"unaffected":[62],"members,":[63],"as":[64,66],"well":[65],"probands":[69],"of":[70],"other":[72],"studied.":[74],"revealed":[77],"both":[79,118],"cases":[80],"different":[81],"C":[82],"to":[83],"T":[84],"transitions":[85],"exon":[87],"44,":[88],"which":[89],"created":[90],"premature":[91],"stop":[92],"codons.":[93],"Both":[94],"altered":[96],"restriction":[97],"sites,":[98],"patterns":[102],"observed":[104],"all":[106],"family":[109],"members.":[110],"RT-PCR":[111],"performed":[112],"on":[113],"lymphocyte":[114],"mRNA":[115],"showed":[116],"that":[117],"mutant":[120],"normal":[123],"transcript":[124],"are":[125,131],"represented.":[126],"To":[127],"our":[128],"knowledge":[129],"these":[130],"first":[133],"nonsense":[134],"described":[136]},"counts_by_year":[{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
