{"id":"https://openalex.org/W2113094705","doi":"https://doi.org/10.1097/01.asn.0000013300.11876.37","title":"The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease","display_name":"The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease","publication_year":2002,"publication_date":"2002-05-01","ids":{"openalex":"https://openalex.org/W2113094705","doi":"https://doi.org/10.1097/01.asn.0000013300.11876.37","mag":"2113094705","pmid":"https://pubmed.ncbi.nlm.nih.gov/11961010"},"language":"en","primary_location":{"id":"doi:10.1097/01.asn.0000013300.11876.37","doi":"https://doi.org/10.1097/01.asn.0000013300.11876.37","is_oa":false,"landing_page_url":"https://doi.org/10.1097/01.asn.0000013300.11876.37","pdf_url":null,"source":{"id":"https://openalex.org/S115693375","display_name":"Journal of the American Society of Nephrology","issn_l":"1046-6673","issn":["1046-6673","1533-3450"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315620","host_organization_name":"American Society of Nephrology","host_organization_lineage":["https://openalex.org/P4310315620"],"host_organization_lineage_names":["American Society of Nephrology"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Society of Nephrology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/11655/14465","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5000198802","display_name":"Sandro Rossetti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Sandro Rossetti","raw_affiliation_strings":["Division of Nephrology and Section of Biostatistics, Mayo Clinic, Rochester, Minnesota 55905, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology and Section of Biostatistics, Mayo Clinic, Rochester, Minnesota 55905, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112508721","display_name":"Sarah Burton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Sarah Burton","raw_affiliation_strings":["Renal Unit, The Oxford Radcliffe Hospital, Oxford, United Kingdom","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Renal Unit, The Oxford Radcliffe Hospital, Oxford, United Kingdom","institution_ids":["https://openalex.org/I2802742124"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069824023","display_name":"Lana Strmecki","orcid":"https://orcid.org/0000-0001-5534-9427","observed_orcids":["https://orcid.org/0000-0001-5534-9427"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Lana Strmecki","raw_affiliation_strings":["Division of Nephrology and \u2021Section of Biostatistics, Mayo Clinic, Rochester, Minnesota","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology and \u2021Section of Biostatistics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047689900","display_name":"Gregory R. Pond","orcid":"https://orcid.org/0000-0003-1033-0882","observed_orcids":["https://orcid.org/0000-0003-1033-0882"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gregory R. Pond","raw_affiliation_strings":["Section of Biostatistics, Mayo Clinic, Rochester, Minnesota;","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Biostatistics, Mayo Clinic, Rochester, Minnesota;","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105418639","display_name":"Jos\u00e9 L. San Mill\u00e1n","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210161852","display_name":"Hospital Universitario Ram\u00f3n y Cajal","ror":"https://ror.org/050eq1942","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210139293","https://openalex.org/I4210161852"]}],"countries":["ES","US"],"is_corresponding":false,"raw_author_name":"Jo\u015be L. San Mill\u00e1n","raw_affiliation_strings":["Unidad de Gen\u00e9tica Molecular, Hospital Ram\u00f3n y Cajal, Madrid, Spain","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unidad de Gen\u00e9tica Molecular, Hospital Ram\u00f3n y Cajal, Madrid, Spain","institution_ids":["https://openalex.org/I4210161852"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111992870","display_name":"Klaus Zerres","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210120689","display_name":"Universit\u00e4tsklinikum Aachen","ror":"https://ror.org/02gm5zw39","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210120689"]},{"id":"https://openalex.org/I887968799","display_name":"RWTH Aachen University","ror":"https://ror.org/04xfq0f34","country_code":"DE","type":"education","lineage":["https://openalex.org/I887968799"]}],"countries":["DE","US"],"is_corresponding":false,"raw_author_name":"Klaus Zerres","raw_affiliation_strings":["Institute fu[Combining Diaeresis]r Human Genetik, Universitu[Combining Diaeresis]tsklinikum der RWTH Aachen, Aachen, Germany","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute fu[Combining Diaeresis]r Human Genetik, Universitu[Combining Diaeresis]tsklinikum der RWTH Aachen, Aachen, Germany","institution_ids":["https://openalex.org/I4210120689","https://openalex.org/I887968799"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044717554","display_name":"T M Barratt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"T. Martin Barratt","raw_affiliation_strings":["Institute of Child Health, London, United Kingdom","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Child Health, London, United Kingdom","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103207859","display_name":"Seza \u00d6zen","orcid":"https://orcid.org/0000-0002-2389-7282","observed_orcids":["https://orcid.org/0000-0002-2389-7282"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR","US"],"is_corresponding":false,"raw_author_name":"Seza Ozen","raw_affiliation_strings":["Department of Pediatric Nephrology, Hacettepe University, Ankara, Turkey","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Nephrology, Hacettepe University, Ankara, Turkey","institution_ids":["https://openalex.org/I66514158"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070149489","display_name":"Vicente E. Torres","orcid":"https://orcid.org/0000-0003-2008-1576","observed_orcids":["https://orcid.org/0000-0003-2008-1576"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Vicente E. Torres","raw_affiliation_strings":["Division of Nephrology and \u2021Section of Biostatistics, Mayo Clinic, Rochester, Minnesota","Nephrology and Hypertension"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology and \u2021Section of Biostatistics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Nephrology and Hypertension","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109562288","display_name":"Erik J. Bergstralh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erik J. Bergstralh","raw_affiliation_strings":["Section of Biostatistics, Mayo Clinic, Rochester, Minnesota;","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Biostatistics, Mayo Clinic, Rochester, Minnesota;","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113566101","display_name":"Christopher G. Winearls","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Christopher G. Winearls","raw_affiliation_strings":["Renal Unit, The Oxford Radcliffe Hospital, Oxford, United Kingdom","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Renal Unit, The Oxford Radcliffe Hospital, Oxford, United Kingdom","institution_ids":["https://openalex.org/I2802742124"]},{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002238355","display_name":"Peter C. Harris","orcid":"https://orcid.org/0000-0002-5304-6593","observed_orcids":["https://orcid.org/0000-0002-5304-6593"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Peter C. Harris","raw_affiliation_strings":["Division of Nephrology and \u2021Section of Biostatistics, Mayo Clinic, Rochester, Minnesota","Nephrology and Hypertension"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology and \u2021Section of Biostatistics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Nephrology and Hypertension","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5000198802","https://openalex.org/A5002238355","https://openalex.org/A5069824023","https://openalex.org/A5070149489"],"corresponding_institution_ids":["https://openalex.org/I1330342723"],"apc_list":null,"apc_paid":null,"fwci":6.3139,"has_fulltext":false,"cited_by_count":216,"citation_normalized_percentile":{"value":0.97222142,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":92,"max":100},"biblio":{"volume":"13","issue":"5","first_page":"1230","last_page":"1237"},"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/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"}},{"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"}}],"keywords":[{"id":"https://openalex.org/keywords/autosomal-dominant-polycystic-kidney-disease","display_name":"autosomal dominant polycystic kidney disease","score":0.9399999976158142},{"id":"https://openalex.org/keywords/pkd1-gene","display_name":"PKD1 gene","score":0.875},{"id":"https://openalex.org/keywords/mutation-position","display_name":"mutation position","score":0.7110000252723694},{"id":"https://openalex.org/keywords/end-stage-renal-disease","display_name":"end-stage renal disease","score":0.8830000162124634},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.7960000038146973},{"id":"https://openalex.org/keywords/cystic-kidney-disease","display_name":"cystic kidney disease","score":0.6909999847412109},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8410000205039978},{"id":"https://openalex.org/keywords/intrafamilial-variability","display_name":"intrafamilial variability","score":0.8029999732971191},{"id":"https://openalex.org/keywords/renal-function","display_name":"renal function","score":0.3569999933242798},{"id":"https://openalex.org/keywords/modifier-genes","display_name":"genetic modifiers","score":0.8769999742507935}],"concepts":[{"id":"https://openalex.org/C100773827","wikidata":"https://www.wikidata.org/wiki/Q82302467","display_name":"PKD1","level":4,"score":0.9665297269821167},{"id":"https://openalex.org/C2780145431","wikidata":"https://www.wikidata.org/wiki/Q15443105","display_name":"Polycystic kidney disease","level":3,"score":0.7014796733856201},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6079902648925781},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5877582430839539},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5831891894340515},{"id":"https://openalex.org/C159641895","wikidata":"https://www.wikidata.org/wiki/Q108377937","display_name":"Renal function","level":2,"score":0.5451570749282837},{"id":"https://openalex.org/C2778653478","wikidata":"https://www.wikidata.org/wiki/Q1054718","display_name":"Kidney disease","level":2,"score":0.5416145920753479},{"id":"https://openalex.org/C3019040382","wikidata":"https://www.wikidata.org/wiki/Q476921","display_name":"End stage renal disease","level":3,"score":0.530666172504425},{"id":"https://openalex.org/C2776266639","wikidata":"https://www.wikidata.org/wiki/Q2732398","display_name":"Autosomal dominant polycystic kidney disease","level":3,"score":0.5173225402832031},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.49472782015800476},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.47029897570610046},{"id":"https://openalex.org/C54847362","wikidata":"https://www.wikidata.org/wiki/Q177635","display_name":"Nephrology","level":2,"score":0.4321480989456177},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.4298827648162842},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.41046133637428284},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3652638792991638},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2570064067840576},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2539997696876526},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15080919861793518},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","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":"D005838","descriptor_name":"Genotype","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":"D007676","descriptor_name":"Kidney Failure, Chronic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","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":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016016","descriptor_name":"Proportional Hazards Models","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":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1097/01.asn.0000013300.11876.37","doi":"https://doi.org/10.1097/01.asn.0000013300.11876.37","is_oa":false,"landing_page_url":"https://doi.org/10.1097/01.asn.0000013300.11876.37","pdf_url":null,"source":{"id":"https://openalex.org/S115693375","display_name":"Journal of the American Society of Nephrology","issn_l":"1046-6673","issn":["1046-6673","1533-3450"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315620","host_organization_name":"American Society of Nephrology","host_organization_lineage":["https://openalex.org/P4310315620"],"host_organization_lineage_names":["American Society of Nephrology"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Society of Nephrology","raw_type":"journal-article"},{"id":"pmid:11961010","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11961010","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":"Journal of the American Society of Nephrology : JASN","raw_type":"Journal Article"},{"id":"pmh:oai:openaccess.hacettepe.edu.tr:11655/14465","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11655/14465","pdf_url":null,"source":{"id":"https://openalex.org/S4306402578","display_name":"Hacettepe University Institutional Repository (hacettepe.edu.tr)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I66514158","host_organization_name":"Hacettepe University","host_organization_lineage":["https://openalex.org/I66514158"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:publications.rwth-aachen.de:145666","doi":null,"is_oa":false,"landing_page_url":"https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-025276%22","pdf_url":null,"source":{"id":"https://openalex.org/S4306401362","display_name":"RWTH Publications (RWTH Aachen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I887968799","host_organization_name":"RWTH Aachen University","host_organization_lineage":["https://openalex.org/I887968799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of the American Society of Nephrology : JASN 13, 1230-1237 (2002). doi:10.1097/01.ASN.0000013300.11876.37","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:openaccess.hacettepe.edu.tr:11655/14465","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11655/14465","pdf_url":null,"source":{"id":"https://openalex.org/S4306402578","display_name":"Hacettepe University Institutional Repository (hacettepe.edu.tr)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I66514158","host_organization_name":"Hacettepe University","host_organization_lineage":["https://openalex.org/I66514158"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/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/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G9000864643","display_name":"ADPKD: Disease Spectrum & Genotype-Phenotype Correlations","funder_award_id":"R01DK058816","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":46,"referenced_works":["https://openalex.org/W1271557530","https://openalex.org/W1492104840","https://openalex.org/W1551136355","https://openalex.org/W1570622790","https://openalex.org/W1580788756","https://openalex.org/W1592452759","https://openalex.org/W1980844512","https://openalex.org/W1986738987","https://openalex.org/W1990249568","https://openalex.org/W1990798039","https://openalex.org/W2002565840","https://openalex.org/W2005026678","https://openalex.org/W2005576951","https://openalex.org/W2005979860","https://openalex.org/W2012159432","https://openalex.org/W2012658469","https://openalex.org/W2018070639","https://openalex.org/W2019049688","https://openalex.org/W2022012638","https://openalex.org/W2023091060","https://openalex.org/W2027344253","https://openalex.org/W2038508315","https://openalex.org/W2070203816","https://openalex.org/W2070588709","https://openalex.org/W2070994243","https://openalex.org/W2071001965","https://openalex.org/W2075164712","https://openalex.org/W2078415207","https://openalex.org/W2081659168","https://openalex.org/W2088811685","https://openalex.org/W2099346627","https://openalex.org/W2111432014","https://openalex.org/W2121190335","https://openalex.org/W2123332237","https://openalex.org/W2128796050","https://openalex.org/W2129925928","https://openalex.org/W2130211846","https://openalex.org/W2131174502","https://openalex.org/W2133212333","https://openalex.org/W2145406828","https://openalex.org/W2152162813","https://openalex.org/W2155887823","https://openalex.org/W2165466047","https://openalex.org/W2223063733","https://openalex.org/W2282558901","https://openalex.org/W2316546811"],"related_works":["https://openalex.org/W2158613256","https://openalex.org/W2151157805","https://openalex.org/W2095471840","https://openalex.org/W2125120514","https://openalex.org/W7100368817","https://openalex.org/W2138451114","https://openalex.org/W2174445059","https://openalex.org/W1991634527","https://openalex.org/W2339322884","https://openalex.org/W4415422829"],"abstract_inverted_index":{"The":[0,39],"severity":[1],"of":[2,10,74,93,106,123,145,182,200,219],"renal":[3,37,44,184],"cystic":[4],"disease":[5,15,45,158],"in":[6,83,150],"the":[7,36,62,72,104,109,118,121,124,129,136,141,151,160,180,198,201,220],"major":[8],"form":[9],"autosomal":[11],"dominant":[12],"polycystic":[13],"kidney":[14],"(PKD1)":[16],"is":[17,204],"highly":[18],"variable.":[19],"Clinical":[20],"data":[21],"was":[22,47,69,138,167],"analyzed":[23],"from":[24],"324":[25],"mutation-characterized":[26],"PKD1":[27,202,213],"patients":[28],"(80":[29],"families)":[30],"to":[31,42,111,128,165],"document":[32],"factors":[33],"associated":[34,139,206],"with":[35,50,61,90,140,148,176,207],"outcome.":[38],"mean":[40],"age":[41,142],"end-stage":[43],"(ESRD)":[46],"54":[48],"yr,":[49,171],"no":[51,59],"significant":[52,81],"difference":[53],"between":[54],"men":[55],"and":[56,58,77,169,190,210],"women":[57],"association":[60],"angiotensin-converting":[63],"enzyme":[64],"polymorphism.":[65],"Considerable":[66],"intrafamilial":[67],"variability":[68],"observed,":[70],"reflecting":[71],"influences":[73],"genetic":[75],"modifiers":[76],"environmental":[78],"factors.":[79],"However,":[80],"differences":[82],"outcome":[84],"were":[85,100],"also":[86],"found":[87],"among":[88],"families,":[89],"rare":[91],"examples":[92],"unusually":[94],"late-onset":[95],"PKD1.":[96],"Possible":[97],"phenotype/genotype":[98],"correlations":[99],"evaluated":[101],"by":[102],"estimating":[103],"effects":[105],"covariants":[107],"on":[108],"time":[110,164],"ESRD":[112,166,209],"using":[113],"proportional":[114],"hazards":[115],"models.":[116],"In":[117],"total":[119],"population,":[120],"location":[122],"mutation":[125,203],"(in":[126],"relation":[127],"median":[130,163],"position;":[131],"nucleotide":[132],"7812),":[133],"but":[134],"not":[135],"type,":[137],"at":[143,186],"onset":[144],"ESRD.":[146],"Patients":[147],"mutations":[149,214],"5'":[152],"region":[153],"had":[154],"significantly":[155,205],"more":[156],"severe":[157],"than":[159,178],"3'":[161],"group;":[162],"53":[168],"56":[170],"respectively":[172],"(P":[173],"=":[174],"0.025),":[175],"less":[177],"half":[179],"chance":[181],"adequate":[183],"function":[185],"60":[187],"yr":[188],"(18.9%":[189],"39.7%,":[191],"respectively).":[192],"This":[193],"study":[194],"has":[195],"shown":[196],"that":[197],"position":[199],"earlier":[208],"questions":[211],"whether":[212],"simply":[215],"inactivate":[216],"all":[217],"products":[218],"gene.":[221]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":9},{"year":2017,"cited_by_count":10},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":16},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":11}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
