{"id":"https://openalex.org/W3112866005","doi":"https://doi.org/10.1016/j.kint.2020.10.040","title":"Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife","display_name":"Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife","publication_year":2020,"publication_date":"2020-12-10","ids":{"openalex":"https://openalex.org/W3112866005","doi":"https://doi.org/10.1016/j.kint.2020.10.040","mag":"3112866005","pmid":"https://pubmed.ncbi.nlm.nih.gov/33309955"},"language":"en","primary_location":{"id":"doi:10.1016/j.kint.2020.10.040","doi":"https://doi.org/10.1016/j.kint.2020.10.040","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.kint.2020.10.040","pdf_url":"http://www.kidney-international.org/article/S0085253820314101/pdf","source":{"id":"https://openalex.org/S97303050","display_name":"Kidney International","issn_l":"0085-2538","issn":["0085-2538","1523-1755"],"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-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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney International","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W3112866005"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"http://www.kidney-international.org/article/S0085253820314101/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010566169","display_name":"Aleksandra M. Zurowska","orcid":"https://orcid.org/0000-0002-3354-5344","observed_orcids":["https://orcid.org/0000-0002-3354-5344"]},"institutions":[{"id":"https://openalex.org/I75124487","display_name":"Gda\u0144sk Medical University","ror":"https://ror.org/019sbgd69","country_code":"PL","type":"education","lineage":["https://openalex.org/I75124487"]}],"countries":["PL"],"is_corresponding":true,"raw_author_name":"Aleksandra M. \u017burowska","raw_affiliation_strings":["Rare Diseases Centre, Medical University of Gda\u0144sk, Gda\u0144sk, Poland; Department of Pediatrics, Nephrology and Hypertension, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland. Electronic address: aleksandra.zurowska@gumed.edu.pl","Department of Pediatrics, Nephrology and Hypertension, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland","Rare Diseases Centre, Medical University of Gda\u0144sk, Gda\u0144sk, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rare Diseases Centre, Medical University of Gda\u0144sk, Gda\u0144sk, Poland; Department of Pediatrics, Nephrology and Hypertension, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland. Electronic address: aleksandra.zurowska@gumed.edu.pl","institution_ids":["https://openalex.org/I75124487"]},{"raw_affiliation_string":"Department of Pediatrics, Nephrology and Hypertension, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland","institution_ids":["https://openalex.org/I75124487"]},{"raw_affiliation_string":"Rare Diseases Centre, Medical University of Gda\u0144sk, Gda\u0144sk, Poland","institution_ids":["https://openalex.org/I75124487"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081711862","display_name":"Olga Bielska","orcid":"https://orcid.org/0000-0001-5826-0778","observed_orcids":["https://orcid.org/0000-0001-5826-0778"]},"institutions":[{"id":"https://openalex.org/I75124487","display_name":"Gda\u0144sk Medical University","ror":"https://ror.org/019sbgd69","country_code":"PL","type":"education","lineage":["https://openalex.org/I75124487"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Olga Bielska","raw_affiliation_strings":["Department of Pediatrics, Nephrology and Hypertension, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Nephrology and Hypertension, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland","institution_ids":["https://openalex.org/I75124487"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076870377","display_name":"Patrycja Daca\u2010Roszak","orcid":"https://orcid.org/0000-0003-1094-1333","observed_orcids":["https://orcid.org/0000-0003-1094-1333"]},"institutions":[{"id":"https://openalex.org/I4210119107","display_name":"Institute of Human Genetics","ror":"https://ror.org/02jzt6t86","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210119107","https://openalex.org/I99542240"]},{"id":"https://openalex.org/I99542240","display_name":"Polish Academy of Sciences","ror":"https://ror.org/01dr6c206","country_code":"PL","type":"government","lineage":["https://openalex.org/I99542240"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Patrycja Daca-Roszak","raw_affiliation_strings":["Institute of Human Genetics, Polish Academy of Sciences, Pozna\u0144, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Polish Academy of Sciences, Pozna\u0144, Poland","institution_ids":["https://openalex.org/I4210119107","https://openalex.org/I99542240"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085204167","display_name":"Maciej Jankowski","orcid":"https://orcid.org/0000-0003-3018-5942","observed_orcids":["https://orcid.org/0000-0003-3018-5942","https://orcid.org/0000-0003-4540-6955"]},"institutions":[{"id":"https://openalex.org/I75124487","display_name":"Gda\u0144sk Medical University","ror":"https://ror.org/019sbgd69","country_code":"PL","type":"education","lineage":["https://openalex.org/I75124487"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Maciej Jankowski","raw_affiliation_strings":["Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland","institution_ids":["https://openalex.org/I75124487"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035649075","display_name":"Maria Szczepa\u0144ska","orcid":"https://orcid.org/0000-0002-6772-1983","observed_orcids":["https://orcid.org/0000-0002-6772-1983"]},"institutions":[{"id":"https://openalex.org/I166182418","display_name":"Medical University of Silesia","ror":"https://ror.org/005k7hp45","country_code":"PL","type":"education","lineage":["https://openalex.org/I166182418"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Maria Szczepa\u0144ska","raw_affiliation_strings":["Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Zabrze, Poland","institution_ids":["https://openalex.org/I166182418"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057791172","display_name":"Dagmara Roszkowska-Bjanid","orcid":"https://orcid.org/0000-0003-0550-5297","observed_orcids":["https://orcid.org/0000-0003-0550-5297"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dagmara Roszkowska-Bjanid","raw_affiliation_strings":["Pediatric Nephrology Ward With Dialysis Division for Children, Public Clinical Hospital, Zabrze, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Nephrology Ward With Dialysis Division for Children, Public Clinical Hospital, Zabrze, Poland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068220325","display_name":"El\u017cbieta Ku\u017ama-Mroczkowska","orcid":"https://orcid.org/0000-0001-6538-0188","observed_orcids":["https://orcid.org/0000-0001-6538-0188"]},"institutions":[{"id":"https://openalex.org/I268303160","display_name":"Medical University of Warsaw","ror":"https://ror.org/04p2y4s44","country_code":"PL","type":"education","lineage":["https://openalex.org/I268303160"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"El\u017cbieta Ku\u017ama-Mroczkowska","raw_affiliation_strings":["Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland","institution_ids":["https://openalex.org/I268303160"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064064986","display_name":"Ma\u0142gorzata Pa\u0144czyk-Tomaszewska","orcid":"https://orcid.org/0000-0002-4566-7074","observed_orcids":["https://orcid.org/0000-0002-4566-7074"]},"institutions":[{"id":"https://openalex.org/I268303160","display_name":"Medical University of Warsaw","ror":"https://ror.org/04p2y4s44","country_code":"PL","type":"education","lineage":["https://openalex.org/I268303160"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Ma\u0142gorzata Pa\u0144czyk-Tomaszewska","raw_affiliation_strings":["Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland","institution_ids":["https://openalex.org/I268303160"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056801042","display_name":"Anna Moczulska","orcid":"https://orcid.org/0000-0002-8479-050X","observed_orcids":["https://orcid.org/0000-0002-8479-050X"]},"institutions":[{"id":"https://openalex.org/I126596746","display_name":"Jagiellonian University","ror":"https://ror.org/03bqmcz70","country_code":"PL","type":"education","lineage":["https://openalex.org/I126596746"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Anna Moczulska","raw_affiliation_strings":["Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Cracow, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Cracow, Poland","institution_ids":["https://openalex.org/I126596746"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055442551","display_name":"Dorota Dro\u017cd\u017c","orcid":"https://orcid.org/0000-0002-1281-1164","observed_orcids":["https://orcid.org/0000-0002-1281-1164"]},"institutions":[{"id":"https://openalex.org/I126596746","display_name":"Jagiellonian University","ror":"https://ror.org/03bqmcz70","country_code":"PL","type":"education","lineage":["https://openalex.org/I126596746"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Dorota Dro\u017cd\u017c","raw_affiliation_strings":["Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Cracow, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Cracow, Poland","institution_ids":["https://openalex.org/I126596746"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004082964","display_name":"Despina Hadjipanagi","orcid":"https://orcid.org/0000-0002-6728-0065","observed_orcids":["https://orcid.org/0000-0002-6728-0065"]},"institutions":[{"id":"https://openalex.org/I34771391","display_name":"University of Cyprus","ror":"https://ror.org/02qjrjx09","country_code":"CY","type":"education","lineage":["https://openalex.org/I34771391"]}],"countries":["CY"],"is_corresponding":false,"raw_author_name":"Despina Hadjipanagi","raw_affiliation_strings":["Center of Excellence in Biobanking and Biomedical Research, Molecular Medicine Research Center, University of Cyprus Medical School, Nicosia, Cyprus"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center of Excellence in Biobanking and Biomedical Research, Molecular Medicine Research Center, University of Cyprus Medical School, Nicosia, Cyprus","institution_ids":["https://openalex.org/I34771391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029748749","display_name":"Constantinos C. Deltas","orcid":"https://orcid.org/0000-0001-5549-9169","observed_orcids":["https://orcid.org/0000-0001-5549-9169"]},"institutions":[{"id":"https://openalex.org/I34771391","display_name":"University of Cyprus","ror":"https://ror.org/02qjrjx09","country_code":"CY","type":"education","lineage":["https://openalex.org/I34771391"]}],"countries":["CY"],"is_corresponding":false,"raw_author_name":"Constantinos Deltas","raw_affiliation_strings":["Center of Excellence in Biobanking and Biomedical Research, Molecular Medicine Research Center, University of Cyprus Medical School, Nicosia, Cyprus"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center of Excellence in Biobanking and Biomedical Research, Molecular Medicine Research Center, University of Cyprus Medical School, Nicosia, Cyprus","institution_ids":["https://openalex.org/I34771391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013469700","display_name":"Danuta Ostalska\u2010Nowicka","orcid":"https://orcid.org/0000-0003-1758-8587","observed_orcids":["https://orcid.org/0000-0003-1758-8587"]},"institutions":[{"id":"https://openalex.org/I120230055","display_name":"Poznan University of Medical Sciences","ror":"https://ror.org/02zbb2597","country_code":"PL","type":"education","lineage":["https://openalex.org/I120230055"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Danuta Ostalska-Nowicka","raw_affiliation_strings":["Department of Pediatric Cardiology and Hypertensiology, Poznan University of Medical Sciences, Pozna\u0144, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Cardiology and Hypertensiology, Poznan University of Medical Sciences, Pozna\u0144, Poland","institution_ids":["https://openalex.org/I120230055"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006605179","display_name":"Alina Rabiega","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I120230055","display_name":"Poznan University of Medical Sciences","ror":"https://ror.org/02zbb2597","country_code":"PL","type":"education","lineage":["https://openalex.org/I120230055"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Alina Rabiega","raw_affiliation_strings":["Department of Pediatric Cardiology and Hypertensiology, Poznan University of Medical Sciences, Pozna\u0144, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Cardiology and Hypertensiology, Poznan University of Medical Sciences, Pozna\u0144, Poland","institution_ids":["https://openalex.org/I120230055"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033064596","display_name":"Janina Taraszkiewicz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Janina Taraszkiewicz","raw_affiliation_strings":["Department of Pediatric Nephrology, Team of Municipal Hospitals in Chorz\u00f3w, Chorz\u00f3w, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Nephrology, Team of Municipal Hospitals in Chorz\u00f3w, Chorz\u00f3w, Poland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017642619","display_name":"Katarzyna Taranta\u2010Janusz","orcid":"https://orcid.org/0000-0002-8762-8866","observed_orcids":["https://orcid.org/0000-0002-8762-8866"]},"institutions":[{"id":"https://openalex.org/I146122375","display_name":"Medical University of Bia\u0142ystok","ror":"https://ror.org/00y4ya841","country_code":"PL","type":"education","lineage":["https://openalex.org/I146122375"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Katarzyna Taranta-Janusz","raw_affiliation_strings":["Department of Pediatrics and Nephrology, Medical University of Bia\u0142ystok, Bia\u0142ystok, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Nephrology, Medical University of Bia\u0142ystok, Bia\u0142ystok, Poland","institution_ids":["https://openalex.org/I146122375"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049708195","display_name":"Anna Wieczorkiewicz-P\u0142aza","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I121032520","display_name":"Medical University of Lublin","ror":"https://ror.org/016f61126","country_code":"PL","type":"education","lineage":["https://openalex.org/I121032520"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Anna Wieczorkiewicz-Plaza","raw_affiliation_strings":["Department Pediatric Nephrology, Medical University Lublin, Lublin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department Pediatric Nephrology, Medical University Lublin, Lublin, Poland","institution_ids":["https://openalex.org/I121032520"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023781295","display_name":"Katarzyna Jobs","orcid":"https://orcid.org/0000-0002-8616-2347","observed_orcids":["https://orcid.org/0000-0002-8616-2347"]},"institutions":[{"id":"https://openalex.org/I4210146974","display_name":"Wojskowy Instytut Medyczny","ror":"https://ror.org/04zvqhj72","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210146974"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Katarzyna Jobs","raw_affiliation_strings":["Department of Pediatrics, Pediatric Nephrology and Allergology, Military Institute of Medicine, Warsaw, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Pediatric Nephrology and Allergology, Military Institute of Medicine, Warsaw, Poland","institution_ids":["https://openalex.org/I4210146974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020994086","display_name":"Judyta Mews","orcid":"https://orcid.org/0000-0002-4887-1951","observed_orcids":["https://orcid.org/0000-0002-4887-1951"]},"institutions":[{"id":"https://openalex.org/I4210146974","display_name":"Wojskowy Instytut Medyczny","ror":"https://ror.org/04zvqhj72","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210146974"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Judyta Mews","raw_affiliation_strings":["Department of Pediatrics, Pediatric Nephrology and Allergology, Military Institute of Medicine, Warsaw, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Pediatric Nephrology and Allergology, Military Institute of Medicine, Warsaw, Poland","institution_ids":["https://openalex.org/I4210146974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004498638","display_name":"Kinga Musia\u0142","orcid":"https://orcid.org/0000-0002-9000-7585","observed_orcids":["https://orcid.org/0000-0002-9000-7585"]},"institutions":[{"id":"https://openalex.org/I219388962","display_name":"University of Wroc\u0142aw","ror":"https://ror.org/00yae6e25","country_code":"PL","type":"education","lineage":["https://openalex.org/I219388962"]},{"id":"https://openalex.org/I385303915","display_name":"Wroclaw Medical University","ror":"https://ror.org/01qpw1b93","country_code":"PL","type":"education","lineage":["https://openalex.org/I385303915"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Kinga Musia\u0142","raw_affiliation_strings":["Department of Pediatric Nephrology, Wroc\u0142aw Medical University, Wroc\u0142aw, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Nephrology, Wroc\u0142aw Medical University, Wroc\u0142aw, Poland","institution_ids":["https://openalex.org/I219388962","https://openalex.org/I385303915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101632065","display_name":"Anna Jakubowska","orcid":"https://orcid.org/0000-0002-7732-3487","observed_orcids":["https://orcid.org/0000-0002-7732-3487"]},"institutions":[{"id":"https://openalex.org/I219388962","display_name":"University of Wroc\u0142aw","ror":"https://ror.org/00yae6e25","country_code":"PL","type":"education","lineage":["https://openalex.org/I219388962"]},{"id":"https://openalex.org/I385303915","display_name":"Wroclaw Medical University","ror":"https://ror.org/01qpw1b93","country_code":"PL","type":"education","lineage":["https://openalex.org/I385303915"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Anna Jakubowska","raw_affiliation_strings":["Department of Pediatric Nephrology, Wroc\u0142aw Medical University, Wroc\u0142aw, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Nephrology, Wroc\u0142aw Medical University, Wroc\u0142aw, Poland","institution_ids":["https://openalex.org/I219388962","https://openalex.org/I385303915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072554144","display_name":"Hanna Nosek","orcid":"https://orcid.org/0000-0001-6771-7493","observed_orcids":["https://orcid.org/0000-0001-6771-7493"]},"institutions":[{"id":"https://openalex.org/I47996466","display_name":"University of Warmia and Mazury in Olsztyn","ror":"https://ror.org/05s4feg49","country_code":"PL","type":"education","lineage":["https://openalex.org/I47996466"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Hanna Nosek","raw_affiliation_strings":["Department of Pediatrics, Gastroenterology and Nutrition, University of Warmia and Mazury, Olsztyn, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Gastroenterology and Nutrition, University of Warmia and Mazury, Olsztyn, Poland","institution_ids":["https://openalex.org/I47996466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068292721","display_name":"Anna Jander","orcid":"https://orcid.org/0000-0003-1363-091X","observed_orcids":["https://orcid.org/0000-0003-1363-091X"]},"institutions":[{"id":"https://openalex.org/I4210143919","display_name":"Polish Mother\u2019s Memorial Hospital Research Institute","ror":"https://ror.org/059ex7y15","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210143919"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Anna E. Jander","raw_affiliation_strings":["Department of Pediatrics, Immunology and Nephrology, Polish Mothers Memorial Hospital Research Institute, \u0141\u00f3d\u017a, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Immunology and Nephrology, Polish Mothers Memorial Hospital Research Institute, \u0141\u00f3d\u017a, Poland","institution_ids":["https://openalex.org/I4210143919"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087286581","display_name":"Constantina Koutsofti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I34771391","display_name":"University of Cyprus","ror":"https://ror.org/02qjrjx09","country_code":"CY","type":"education","lineage":["https://openalex.org/I34771391"]}],"countries":["CY"],"is_corresponding":false,"raw_author_name":"Constantina Koutsofti","raw_affiliation_strings":["Center of Excellence in Biobanking and Biomedical Research, Molecular Medicine Research Center, University of Cyprus Medical School, Nicosia, Cyprus"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center of Excellence in Biobanking and Biomedical Research, Molecular Medicine Research Center, University of Cyprus Medical School, Nicosia, Cyprus","institution_ids":["https://openalex.org/I34771391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037397084","display_name":"Anna Stanis\u0142awska\u2010Sachadyn","orcid":"https://orcid.org/0000-0002-9490-4582","observed_orcids":["https://orcid.org/0000-0002-9490-4582"]},"institutions":[{"id":"https://openalex.org/I169333911","display_name":"Gda\u0144sk University of Technology","ror":"https://ror.org/006x4sc24","country_code":"PL","type":"education","lineage":["https://openalex.org/I169333911"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Anna Stanis\u0142awska-Sachadyn","raw_affiliation_strings":["Department of Molecular Biotechnology and Microbiology, Gda\u0144sk University of Technology, Gda\u0144sk, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biotechnology and Microbiology, Gda\u0144sk University of Technology, Gda\u0144sk, Poland","institution_ids":["https://openalex.org/I169333911"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043289967","display_name":"Dominka Kuleszo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I75124487","display_name":"Gda\u0144sk Medical University","ror":"https://ror.org/019sbgd69","country_code":"PL","type":"education","lineage":["https://openalex.org/I75124487"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Dominka Kuleszo","raw_affiliation_strings":["Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland","institution_ids":["https://openalex.org/I75124487"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078892879","display_name":"Ewa Zi\u0119tkiewicz","orcid":"https://orcid.org/0000-0003-2437-5088","observed_orcids":["https://orcid.org/0000-0003-2437-5088"]},"institutions":[{"id":"https://openalex.org/I4210119107","display_name":"Institute of Human Genetics","ror":"https://ror.org/02jzt6t86","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210119107","https://openalex.org/I99542240"]},{"id":"https://openalex.org/I99542240","display_name":"Polish Academy of Sciences","ror":"https://ror.org/01dr6c206","country_code":"PL","type":"government","lineage":["https://openalex.org/I99542240"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Ewa Zi\u0119tkiewicz","raw_affiliation_strings":["Institute of Human Genetics, Polish Academy of Sciences, Pozna\u0144, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, Polish Academy of Sciences, Pozna\u0144, Poland","institution_ids":["https://openalex.org/I4210119107","https://openalex.org/I99542240"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018972759","display_name":"Beata Stefania Lipska-Zi\u0119tkiewicz","orcid":"https://orcid.org/0000-0002-4169-9685","observed_orcids":["https://orcid.org/0000-0002-4169-9685"]},"institutions":[{"id":"https://openalex.org/I75124487","display_name":"Gda\u0144sk Medical University","ror":"https://ror.org/019sbgd69","country_code":"PL","type":"education","lineage":["https://openalex.org/I75124487"]}],"countries":["PL"],"is_corresponding":true,"raw_author_name":"Beata S. Lipska-Zi\u0119tkiewicz","raw_affiliation_strings":["Rare Diseases Centre, Medical University of Gda\u0144sk, Gda\u0144sk, Poland; Clinical Genetics Unit, Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland. Electronic address: b.lipska@gumed.edu.pl","Clinical Genetics Unit, Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland","Rare Diseases Centre, Medical University of Gda\u0144sk, Gda\u0144sk, Poland"],"raw_orcid":"https://orcid.org/0000-0002-4169-9685","affiliations":[{"raw_affiliation_string":"Rare Diseases Centre, Medical University of Gda\u0144sk, Gda\u0144sk, Poland; Clinical Genetics Unit, Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland. Electronic address: b.lipska@gumed.edu.pl","institution_ids":["https://openalex.org/I75124487"]},{"raw_affiliation_string":"Clinical Genetics Unit, Department of Biology and Medical Genetics, Faculty of Medicine, Medical University of Gda\u0144sk, Gda\u0144sk, Poland","institution_ids":["https://openalex.org/I75124487"]},{"raw_affiliation_string":"Rare Diseases Centre, Medical University of Gda\u0144sk, Gda\u0144sk, Poland","institution_ids":["https://openalex.org/I75124487"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":16,"corresponding_author_ids":["https://openalex.org/A5010566169","https://openalex.org/A5018972759"],"corresponding_institution_ids":["https://openalex.org/I75124487"],"apc_list":{"value":3200,"currency":"USD","value_usd":3200},"apc_paid":{"value":3200,"currency":"USD","value_usd":3200},"fwci":3.9241,"has_fulltext":true,"cited_by_count":50,"citation_normalized_percentile":{"value":0.95148768,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":99},"biblio":{"volume":"99","issue":"6","first_page":"1451","last_page":"1458"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9984999895095825,"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.0003000000142492354,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/x-linked-alport-syndrome","display_name":"X-linked Alport syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/col4a5","display_name":"COL4A5","score":0.9700000286102295},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.9259999990463257},{"id":"https://openalex.org/keywords/rare-haplotypes","display_name":"rare haplotypes","score":0.8029999732971191},{"id":"https://openalex.org/keywords/kidney-failure","display_name":"renal failure","score":0.5730000138282776},{"id":"https://openalex.org/keywords/hematuria","display_name":"hematuria","score":0.6439999938011169},{"id":"https://openalex.org/keywords/deafness","display_name":"deafness","score":0.48500001430511475},{"id":"https://openalex.org/keywords/clinical-course","display_name":"clinical course","score":0.5090000033378601},{"id":"https://openalex.org/keywords/dialysis","display_name":"dialysis","score":0.5929999947547913},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7110000252723694},{"id":"https://openalex.org/keywords/central-and-eastern-europe","display_name":"Central and Eastern Europe","score":0.5130000114440918},{"id":"https://openalex.org/keywords/polish-families","display_name":"Polish families","score":0.4129999876022339}],"concepts":[{"id":"https://openalex.org/C2776908417","wikidata":"https://www.wikidata.org/wiki/Q1331116","display_name":"Alport syndrome","level":4,"score":0.7021502256393433},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.47942227125167847},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.4296114146709442},{"id":"https://openalex.org/C2780368995","wikidata":"https://www.wikidata.org/wiki/Q605006","display_name":"Glomerulonephritis","level":3,"score":0.35663682222366333},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3288905620574951}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005060","descriptor_name":"Europe","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":"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":"D009394","descriptor_name":"Nephritis, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024141","descriptor_name":"Collagen Type IV","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051437","descriptor_name":"Renal Insufficiency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.kint.2020.10.040","doi":"https://doi.org/10.1016/j.kint.2020.10.040","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.kint.2020.10.040","pdf_url":"http://www.kidney-international.org/article/S0085253820314101/pdf","source":{"id":"https://openalex.org/S97303050","display_name":"Kidney International","issn_l":"0085-2538","issn":["0085-2538","1523-1755"],"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-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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney International","raw_type":"journal-article"},{"id":"pmid:33309955","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33309955","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":"Kidney international","raw_type":"Journal Article"},{"id":"pmh:oai:ruj.uj.edu.pl:item/278825","doi":null,"is_oa":true,"landing_page_url":"https://www.sciencedirect.com/science/article/pii/S0085253820314101","pdf_url":"http://ruj.uj.edu.pl/bitstreams/fd52b8bc-2935-433f-8986-218195af32f1/download","source":{"id":"https://openalex.org/S4306400316","display_name":"Homo Politicus (Academy of Humanities and Economics in Lodz)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"artyku\u0142 w czasopi\u015bmie"}],"best_oa_location":{"id":"doi:10.1016/j.kint.2020.10.040","doi":"https://doi.org/10.1016/j.kint.2020.10.040","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.kint.2020.10.040","pdf_url":"http://www.kidney-international.org/article/S0085253820314101/pdf","source":{"id":"https://openalex.org/S97303050","display_name":"Kidney International","issn_l":"0085-2538","issn":["0085-2538","1523-1755"],"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-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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney International","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1797062419","display_name":null,"funder_award_id":"2017/25/B/NZ2/00519","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G2975900969","display_name":null,"funder_award_id":"2020 \u2018","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"}],"funders":[{"id":"https://openalex.org/F4320317296","display_name":"Institut des maladies g\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55"},{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320331189","display_name":"European Rare Kidney Disease Reference Network","ror":"https://ror.org/04x2ddb07"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3112866005.pdf","grobid_xml":"https://content.openalex.org/works/W3112866005.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W170942874","https://openalex.org/W1976654761","https://openalex.org/W2001627823","https://openalex.org/W2035552488","https://openalex.org/W2058691614","https://openalex.org/W2078123453","https://openalex.org/W2082454196","https://openalex.org/W2101590985","https://openalex.org/W2104743461","https://openalex.org/W2125903388","https://openalex.org/W2141871922","https://openalex.org/W2147730695","https://openalex.org/W2519419350","https://openalex.org/W2576366868","https://openalex.org/W2585781009","https://openalex.org/W2620699965","https://openalex.org/W2747721206","https://openalex.org/W2791757160","https://openalex.org/W2792733174","https://openalex.org/W2803949728","https://openalex.org/W2827559089","https://openalex.org/W2884408308","https://openalex.org/W2888605992","https://openalex.org/W2895982428","https://openalex.org/W2918962975","https://openalex.org/W2949930294","https://openalex.org/W2989680796","https://openalex.org/W2999032424","https://openalex.org/W6681661254"],"related_works":["https://openalex.org/W4404960513","https://openalex.org/W4310039523","https://openalex.org/W3167657947","https://openalex.org/W1976654761","https://openalex.org/W2774209506","https://openalex.org/W2989680796","https://openalex.org/W2519419350","https://openalex.org/W4401317122","https://openalex.org/W4408089191","https://openalex.org/W2921795983"],"abstract_inverted_index":{"A":[0,25],"study":[1],"of":[2,39,48,95,132,151,192],"269":[3],"children":[4,11,97],"enrolled":[5],"into":[6],"a":[7,58,83,116],"National":[8],"Registry":[9],"for":[10,37,167,215,220],"with":[12,19,98,115,144,184,211],"persistent":[13],"glomerular":[14],"hematuria":[15],"identified":[16],"131":[17,96],"individuals":[18,143,183],"genetically":[20,134],"confirmed":[21],"X-linked":[22,40,99],"Alport":[23,41,100,221],"Syndrome.":[24,222],"single":[26],"variant":[27,112,163],"c.1871G>A":[28],"p.Gly624Asp":[29],"(G624D)":[30],"in":[31,43,57,121,142,173,182],"COL4A5":[32,64,126,146,186],"was":[33,69,113,137],"predominant":[34],"and":[35,102,158,171,217],"accounted":[36],"39%":[38],"Syndrome":[42,101],"unrelated":[44],"Polish":[45],"families":[46],"(44":[47],"113).":[49],"To":[50],"evaluate":[51],"its":[52],"origins,":[53],"the":[54,63,77,89,110,129,152,161],"genetic":[55],"variation":[56],"2.79":[59],"Mb":[60],"segment":[61],"encompassing":[62],"locus":[65],"on":[66,76],"chromosome":[67],"X":[68],"assessed.":[70],"All":[71],"G624D":[72,111,162,212],"alleles":[73],"were":[74],"found":[75],"same":[78],"rare":[79],"haplotype":[80],"background,":[81],"indicating":[82],"founder":[84],"effect":[85],"dating":[86],"back":[87],"to":[88,123],"12-13th":[90],"century.":[91],"The":[92],"phenotypic":[93],"data":[94],"their":[103],"195":[104],"affected":[105],"adult":[106],"relatives":[107],"revealed":[108],"that":[109,140,180],"associated":[114],"significantly":[117],"milder":[118,138],"clinical":[119,130,154],"course":[120,131],"comparison":[122],"other":[124,145,185],"pathogenic":[125,187],"variants.":[127],"Furthermore":[128],"this":[133],"uniform":[135],"cohort":[136],"than":[139,179],"observed":[141,181],"missense":[147],"mutations.":[148],"In":[149],"spite":[150],"benign":[153],"manifestation":[155],"throughout":[156],"childhood":[157],"early":[159],"adulthood,":[160],"confers":[164],"significant":[165],"risk":[166,191],"both":[168],"kidney":[169],"failure":[170],"deafness":[172],"males,":[174],"albeit":[175],"20-30":[176],"years":[177,197,204],"later":[178],"variants":[188],"(50%":[189],"cumulative":[190],"starting":[193],"dialysis":[194],"at":[195],"54":[196],"(95%":[198,205],"confidence":[199,206],"interval:":[200,207],"50-62)":[201],"v.":[202],"26":[203],"22-30)).":[208],"Thus,":[209],"males":[210],"are":[213],"candidates":[214],"existing":[216],"emerging":[218],"therapies":[219]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":10},{"year":2024,"cited_by_count":8},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":12},{"year":2021,"cited_by_count":5}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2020-12-21T00:00:00"}
