{"id":"https://openalex.org/W2153545492","doi":"https://doi.org/10.2215/cjn.02760311","title":"Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis","display_name":"Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis","publication_year":2011,"publication_date":"2011-09-01","ids":{"openalex":"https://openalex.org/W2153545492","doi":"https://doi.org/10.2215/cjn.02760311","mag":"2153545492","pmid":"https://pubmed.ncbi.nlm.nih.gov/21896830","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3358997"},"language":"en","primary_location":{"id":"doi:10.2215/cjn.02760311","doi":"https://doi.org/10.2215/cjn.02760311","is_oa":false,"landing_page_url":"https://doi.org/10.2215/cjn.02760311","pdf_url":null,"source":{"id":"https://openalex.org/S184267533","display_name":"Clinical Journal of the American Society of Nephrology","issn_l":"1555-9041","issn":["1555-9041","1555-905X"],"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-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical 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":"https://www.ncbi.nlm.nih.gov/pmc/articles/3358997","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111485284","display_name":"Carla G. Monico","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":"Carla G. Monico","raw_affiliation_strings":["Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statisticsand Informatics, MayoClinic, Rochester, Minnesota, USA. monico.carla@mayo.edu","Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statisticsand Informatics, MayoClinic, Rochester, Minnesota, USA. monico.carla@mayo.edu","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","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":["Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065848662","display_name":"Ruth Belostotsky","orcid":"https://orcid.org/0000-0001-6962-0089","observed_orcids":["https://orcid.org/0000-0001-6962-0089"]},"institutions":[{"id":"https://openalex.org/I197251160","display_name":"Hebrew University of Jerusalem","ror":"https://ror.org/03qxff017","country_code":"IL","type":"education","lineage":["https://openalex.org/I197251160"]},{"id":"https://openalex.org/I2801962034","display_name":"Shaare Zedek Medical Center","ror":"https://ror.org/04d0szq68","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801962034"]},{"id":"https://openalex.org/I2802879425","display_name":"Bikur Cholim Hospital","ror":"https://ror.org/03zpnb459","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2802879425"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Ruth Belostotsky","raw_affiliation_strings":["Division of Pediatric Nephrology, Shaare Zedek Medical Center, and the Hadassah-Hebrew University School of Medicine, Jerusalem, Israel; and","Division of Pediatric Nephrology, Shaare Zedek Medical Center, and the Hadassah-Hebrew University School of Medicine, Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Nephrology, Shaare Zedek Medical Center, and the Hadassah-Hebrew University School of Medicine, Jerusalem, Israel; and","institution_ids":["https://openalex.org/I197251160","https://openalex.org/I2801962034","https://openalex.org/I2802879425"]},{"raw_affiliation_string":"Division of Pediatric Nephrology, Shaare Zedek Medical Center, and the Hadassah-Hebrew University School of Medicine, Jerusalem, Israel","institution_ids":["https://openalex.org/I197251160","https://openalex.org/I2801962034","https://openalex.org/I2802879425"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037840162","display_name":"Andrea G. Cogal","orcid":"https://orcid.org/0009-0002-6212-567X","observed_orcids":["https://orcid.org/0009-0002-6212-567X"]},"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":"Andrea G. Cogal","raw_affiliation_strings":["Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025775633","display_name":"Regina M. Herges","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":"Regina M. Herges","raw_affiliation_strings":["Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110287920","display_name":"Barbara M. Seide","orcid":"https://orcid.org/0009-0008-1536-0582","observed_orcids":["https://orcid.org/0009-0008-1536-0582"]},"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":"Barbara M. Seide","raw_affiliation_strings":["Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Julie B. Olson","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":"Julie B. Olson","raw_affiliation_strings":["Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078121180","display_name":"Eric J. Bergstrahl","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":"Eric J. Bergstrahl","raw_affiliation_strings":["Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110951202","display_name":"Hugh J. Williams","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hugh J. Williams","raw_affiliation_strings":["Mayo Clinic, Divisions of Nephrology & Hypertension and Diagnostic Radiology, Jacksonville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic, Divisions of Nephrology & Hypertension and Diagnostic Radiology, Jacksonville, Florida","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103166719","display_name":"William E. Haley","orcid":"https://orcid.org/0000-0002-5312-8660","observed_orcids":["https://orcid.org/0000-0002-5312-8660"]},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William E. Haley","raw_affiliation_strings":["Mayo Clinic, Divisions of Nephrology & Hypertension and Diagnostic Radiology, Jacksonville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic, Divisions of Nephrology & Hypertension and Diagnostic Radiology, Jacksonville, Florida","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070639365","display_name":"Yaacov Frishberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I197251160","display_name":"Hebrew University of Jerusalem","ror":"https://ror.org/03qxff017","country_code":"IL","type":"education","lineage":["https://openalex.org/I197251160"]},{"id":"https://openalex.org/I2801962034","display_name":"Shaare Zedek Medical Center","ror":"https://ror.org/04d0szq68","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801962034"]},{"id":"https://openalex.org/I2802879425","display_name":"Bikur Cholim Hospital","ror":"https://ror.org/03zpnb459","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2802879425"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Yaacov Frishberg","raw_affiliation_strings":["Division of Pediatric Nephrology, Shaare Zedek Medical Center, and the Hadassah-Hebrew University School of Medicine, Jerusalem, Israel; and","Division of Pediatric Nephrology, Shaare Zedek Medical Center, and the Hadassah-Hebrew University School of Medicine, Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pediatric Nephrology, Shaare Zedek Medical Center, and the Hadassah-Hebrew University School of Medicine, Jerusalem, Israel; and","institution_ids":["https://openalex.org/I197251160","https://openalex.org/I2801962034","https://openalex.org/I2802879425"]},{"raw_affiliation_string":"Division of Pediatric Nephrology, Shaare Zedek Medical Center, and the Hadassah-Hebrew University School of Medicine, Jerusalem, Israel","institution_ids":["https://openalex.org/I197251160","https://openalex.org/I2801962034","https://openalex.org/I2802879425"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5081154709","display_name":"Dawn S. Milliner","orcid":"https://orcid.org/0000-0003-4799-1668","observed_orcids":["https://orcid.org/0000-0003-4799-1668"]},"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":"Dawn S. Milliner","raw_affiliation_strings":["Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Hyperoxaluria Center, Divisions of Nephrology and Hypertension, and Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5000198802","https://openalex.org/A5025775633","https://openalex.org/A5037840162","https://openalex.org/A5078121180","https://openalex.org/A5081154709","https://openalex.org/A5110287920","https://openalex.org/A5111485284"],"corresponding_institution_ids":["https://openalex.org/I1330342723"],"apc_list":null,"apc_paid":null,"fwci":8.7016,"has_fulltext":false,"cited_by_count":128,"citation_normalized_percentile":{"value":0.9808528,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":100},"biblio":{"volume":"6","issue":"9","first_page":"2289","last_page":"2295"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10606","display_name":"Kidney Stones and Urolithiasis Treatments","score":0.9771000146865845,"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"}},"topics":[{"id":"https://openalex.org/T10606","display_name":"Kidney Stones and Urolithiasis Treatments","score":0.9771000146865845,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.004399999976158142,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/calcium-oxalate-urolithiasis","display_name":"calcium oxalate urolithiasis","score":0.8980000019073486},{"id":"https://openalex.org/keywords/hyperoxaluria","display_name":"hyperoxaluria","score":0.9599999785423279},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.7379999756813049},{"id":"https://openalex.org/keywords/dominant-negative","display_name":"dominant negative effect","score":0.703000009059906},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7829999923706055},{"id":"https://openalex.org/keywords/urinary-oxalate","display_name":"urinary oxalate","score":0.8679999709129333},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.5770000219345093},{"id":"https://openalex.org/keywords/genetic-risk-factors","display_name":"genetic risk factors","score":0.41999998688697815}],"concepts":[{"id":"https://openalex.org/C2781092957","wikidata":"https://www.wikidata.org/wiki/Q7243137","display_name":"Primary hyperoxaluria","level":3,"score":0.743095338344574},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6822250485420227},{"id":"https://openalex.org/C2776179656","wikidata":"https://www.wikidata.org/wiki/Q412399","display_name":"Calcium oxalate","level":3,"score":0.6430336236953735},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5931879281997681},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.567914605140686},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5268223285675049},{"id":"https://openalex.org/C2780026642","wikidata":"https://www.wikidata.org/wiki/Q40924","display_name":"Urine","level":2,"score":0.4678438603878021},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.4616161286830902},{"id":"https://openalex.org/C2776351790","wikidata":"https://www.wikidata.org/wiki/Q417351","display_name":"Oxalate","level":2,"score":0.4440394639968872},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.42983880639076233},{"id":"https://openalex.org/C2779881121","wikidata":"https://www.wikidata.org/wiki/Q105522","display_name":"Uric acid","level":2,"score":0.42676809430122375},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.17659682035446167},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.16536343097686768},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.15434274077415466},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002129","descriptor_name":"Calcium Oxalate","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006960","descriptor_name":"Hyperoxaluria, Primary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007652","descriptor_name":"Oxo-Acid-Lyases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007652","descriptor_name":"Oxo-Acid-Lyases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D052878","descriptor_name":"Urolithiasis","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D052878","descriptor_name":"Urolithiasis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.2215/cjn.02760311","doi":"https://doi.org/10.2215/cjn.02760311","is_oa":false,"landing_page_url":"https://doi.org/10.2215/cjn.02760311","pdf_url":null,"source":{"id":"https://openalex.org/S184267533","display_name":"Clinical Journal of the American Society of Nephrology","issn_l":"1555-9041","issn":["1555-9041","1555-905X"],"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-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Journal of the American Society of Nephrology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3358997","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3358997","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clin J Am Soc Nephrol","raw_type":"Text"},{"id":"pmid:21896830","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21896830","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical journal of the American Society of Nephrology : CJASN","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:3358997","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3358997","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clin J Am Soc Nephrol","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G2490518000","display_name":"Mayo Clinic Urology O'Brien Research Center","funder_award_id":"P50DK083007","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G3601006085","display_name":"Prevention of Renal Damage in Primary Hyperoxaluria","funder_award_id":"R01DK073354","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G5022799068","display_name":null,"funder_award_id":"U54-KD083908","funder_id":"https://openalex.org/F4320332505","funder_display_name":"U.S. Public Health Service"},{"id":"https://openalex.org/G6044293349","display_name":null,"funder_award_id":"DK73354","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G7211161323","display_name":"Nephrolithiasis and Kidney Failure: the Rare Kidney Stone Consortium","funder_award_id":"U54DK083908","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320306143","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03"},{"id":"https://openalex.org/F4320332505","display_name":"U.S. Public Health Service","ror":"https://ror.org/05xf94514"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1963812065","https://openalex.org/W1968473211","https://openalex.org/W1975939854","https://openalex.org/W1991812607","https://openalex.org/W1999073835","https://openalex.org/W2002046271","https://openalex.org/W2003196283","https://openalex.org/W2017985432","https://openalex.org/W2036744553","https://openalex.org/W2056690897","https://openalex.org/W2065305317","https://openalex.org/W2080376961","https://openalex.org/W2088763378","https://openalex.org/W2318680290","https://openalex.org/W2412741010","https://openalex.org/W4237747494"],"related_works":["https://openalex.org/W1979139312","https://openalex.org/W2946588145","https://openalex.org/W2118533891","https://openalex.org/W4407354014","https://openalex.org/W4306831887","https://openalex.org/W2518244410","https://openalex.org/W2072183426","https://openalex.org/W7160995136","https://openalex.org/W2735263394","https://openalex.org/W2159735053"],"abstract_inverted_index":{"BACKGROUND":[0],"AND":[1],"OBJECTIVES:":[2],"Primary":[3],"hyperoxaluria":[4,17,95,189],"types":[5],"I":[6],"and":[7,10,18,65,127,137,153,156,165,190],"II":[8],"(PHI":[9],"PHII)":[11],"are":[12],"rare":[13],"monogenic":[14],"causes":[15],"of":[16,39,58,123,193,214,233],"calcium":[19,83,155,196,238],"oxalate":[20,84,150,197,239],"urolithiasis.":[21],"Recently,":[22],"we":[23,60,78,106],"described":[24,140],"type":[25],"III,":[26],"due":[27,97],"to":[28,35,98],"mutations":[29,113,130],"in":[30,45,184,191,205,211,236],"HOGA1":[31,73,112,180,201,234,243],"(formerly":[32],"DHDPSL),":[33],"hypothesized":[34],"cause":[36],"a":[37,117,221,229,246],"gain":[38],"mitochondrial":[40],"4-hydroxy-2-oxoglutarate":[41],"aldolase":[42],"activity,":[43],"resulting":[44],"excess":[46],"oxalate.":[47],"DESIGN,":[48],"SETTING,":[49],"PARTICIPANTS,":[50],"&":[51],"MEASUREMENTS:":[52],"To":[53],"further":[54],"explore":[55],"the":[56,124,135,212],"pathophysiology":[57],"HOGA1,":[59,225],"screened":[61,80],"additional":[62],"non-PHI-PHII":[63],"patients":[64,92,144,186],"performed":[66],"reverse":[67],"transcription":[68,121],"PCR":[69,122],"analysis.":[70],"Postulating":[71],"that":[72],"may":[74,244],"influence":[75],"urine":[76,154],"oxalate,":[77],"also":[79,241],"100":[81,194],"idiopathic":[82,195,237],"stone":[85,198],"formers.":[86,199],"RESULTS:":[87],"Of":[88],"28":[89],"unrelated":[90],"hyperoxaluric":[91],"with":[93,110,163,187,226],"marked":[94],"not":[96],"PHI,":[99],"PHII,":[100],"or":[101],"any":[102],"identifiable":[103],"secondary":[104],"cause,":[105],"identified":[107,146],"10":[108],"(36%)":[109],"two":[111,128,185],"(four":[114],"novel,":[115],"including":[116],"nonsense":[118],"variant).":[119],"Reverse":[120],"stop":[125],"codon":[126],"common":[129],"showed":[131],"stable":[132],"expression.":[133],"From":[134],"new":[136],"our":[138],"previously":[139],"PHIII":[141],"cohort,":[142],"25":[143],"were":[145,159,203],"for":[147,218,224,228,249],"study.":[148],"Urine":[149],"was":[151,174,182],"lower":[152],"uric":[157],"acid":[158],"higher":[160],"when":[161],"compared":[162],"PHI":[164],"PHII.":[166],"After":[167],"7.2":[168],"years":[169],"median":[170],"follow-up,":[171],"mean":[172],"eGFR":[173],"116":[175],"ml/min":[176],"per":[177],"1.73":[178],"m(2).":[179],"heterozygosity":[181],"found":[183],"mild":[188],"three":[192],"No":[200],"variants":[202,235],"detected":[204],"166":[206],"controls.":[207],"CONCLUSIONS:":[208],"These":[209],"findings,":[210],"context":[213],"autosomal":[215],"recessive":[216],"inheritance":[217],"PHIII,":[219],"support":[220],"loss-of-function":[222],"mechanism":[223],"potential":[227],"dominant-negative":[230],"effect.":[231],"Detection":[232],"urolithiasis":[240],"suggests":[242],"be":[245],"predisposing":[247],"factor":[248],"this":[250],"condition.":[251]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":8},{"year":2024,"cited_by_count":8},{"year":2023,"cited_by_count":10},{"year":2022,"cited_by_count":10},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":11},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":11},{"year":2014,"cited_by_count":14},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":9}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
