{"id":"https://openalex.org/W2012997980","doi":"https://doi.org/10.1038/ki.2011.297","title":"Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis","display_name":"Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis","publication_year":2011,"publication_date":"2011-08-24","ids":{"openalex":"https://openalex.org/W2012997980","doi":"https://doi.org/10.1038/ki.2011.297","mag":"2012997980","pmid":"https://pubmed.ncbi.nlm.nih.gov/21866090","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3694501"},"language":"en","primary_location":{"id":"doi:10.1038/ki.2011.297","doi":"https://doi.org/10.1038/ki.2011.297","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ki.2011.297","pdf_url":null,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney International","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1038/ki.2011.297","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5029478274","display_name":"Rasheed Gbadegesin","orcid":"https://orcid.org/0000-0001-5641-6644","observed_orcids":["https://orcid.org/0000-0001-5641-6644"]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Rasheed A. Gbadegesin","raw_affiliation_strings":["Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA. michelle.winn@duke.edu","Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA. michelle.winn@duke.edu","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108510337","display_name":"Peter Lavin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter J. Lavin","raw_affiliation_strings":["Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018819198","display_name":"Gentzon Hall","orcid":"https://orcid.org/0000-0002-6866-9945","observed_orcids":["https://orcid.org/0000-0002-6866-9945"]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gentzon Hall","raw_affiliation_strings":["Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041815556","display_name":"Bartlomiej Bartkowiak","orcid":"https://orcid.org/0000-0002-9887-2098","observed_orcids":["https://orcid.org/0000-0002-9887-2098"]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bartlomiej Bartkowiak","raw_affiliation_strings":["Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088268500","display_name":"Alison Homstad","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alison Homstad","raw_affiliation_strings":["Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062800737","display_name":"Ruiji Jiang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ruiji Jiang","raw_affiliation_strings":["Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070873955","display_name":"Guanghong Wu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Guanghong Wu","raw_affiliation_strings":["Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054894862","display_name":"Alison Byrd","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alison Byrd","raw_affiliation_strings":["Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103474118","display_name":"Kelvin L. Lynn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802773633","display_name":"Christchurch Hospital","ror":"https://ror.org/003nvpm64","country_code":"NZ","type":"healthcare","lineage":["https://openalex.org/I2802773633","https://openalex.org/I4405259026"]}],"countries":["NZ"],"is_corresponding":false,"raw_author_name":"Kelvin Lynn","raw_affiliation_strings":["Department of Medicine, Division of Nephrology, Christchurch Hospital, Christchurch, New Zealand"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Nephrology, Christchurch Hospital, Christchurch, New Zealand","institution_ids":["https://openalex.org/I2802773633"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111577514","display_name":"Norman M. Wolfish","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799330578","display_name":"Children's Hospital of Eastern Ontario","ror":"https://ror.org/05nsbhw27","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2799330578"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Norman Wolfish","raw_affiliation_strings":["Department of Pediatrics, Division of Nephrology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Nephrology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada","institution_ids":["https://openalex.org/I2799330578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004695754","display_name":"Carolina Ottati","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carolina Ottati","raw_affiliation_strings":["Centrode Nefrologia Hospital de Clinicus Dr Manuel Quintela, Montevideo, Uruguay"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centrode Nefrologia Hospital de Clinicus Dr Manuel Quintela, Montevideo, Uruguay","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016977555","display_name":"Paul E. Stevens","orcid":"https://orcid.org/0000-0001-7606-0649","observed_orcids":["https://orcid.org/0000-0001-7606-0649"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Paul Stevens","raw_affiliation_strings":["Department of Nephrology, East Kent Hospital University NHS, Canterbury, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology, East Kent Hospital University NHS, Canterbury, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021750333","display_name":"David N. Howell","orcid":"https://orcid.org/0000-0001-7257-1767","observed_orcids":["https://orcid.org/0000-0001-7257-1767"]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David Howell","raw_affiliation_strings":["Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077564795","display_name":"Peter J. Conlon","orcid":"https://orcid.org/0000-0001-6772-9531","observed_orcids":["https://orcid.org/0000-0001-6772-9531"]},"institutions":[{"id":"https://openalex.org/I2801846703","display_name":"Beaumont Hospital","ror":"https://ror.org/043mzjj67","country_code":"IE","type":"healthcare","lineage":["https://openalex.org/I2801846703"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Peter Conlon","raw_affiliation_strings":["Department of Nephrology, Beaumont Hospital, Dublin, Ireland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nephrology, Beaumont Hospital, Dublin, Ireland","institution_ids":["https://openalex.org/I2801846703"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111946817","display_name":"Michelle P. Winn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Michelle P. Winn","raw_affiliation_strings":["Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA","institution_ids":["https://openalex.org/I4210126298"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5029478274","https://openalex.org/A5111946817"],"corresponding_institution_ids":["https://openalex.org/I4210126298"],"apc_list":{"value":3500,"currency":"USD","value_usd":3500},"apc_paid":null,"fwci":5.3649,"has_fulltext":false,"cited_by_count":76,"citation_normalized_percentile":{"value":0.95628939,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"81","issue":"1","first_page":"94","last_page":"99"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9994999766349792,"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":0.9994999766349792,"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":0.0,"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/T10408","display_name":"Chronic Kidney Disease and Diabetes","score":0.0,"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/inverted-formin-2","display_name":"INF2","score":0.9739999771118164},{"id":"https://openalex.org/keywords/focal-segmental-glomerulosclerosis","display_name":"focal segmental glomerulosclerosis","score":0.9319999814033508},{"id":"https://openalex.org/keywords/podocytes","display_name":"podocytes","score":0.8019999861717224},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8669999837875366},{"id":"https://openalex.org/keywords/exon-4","display_name":"exon 4","score":0.9010000228881836},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.902999997138977},{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.7459999918937683},{"id":"https://openalex.org/keywords/end-stage-renal-disease","display_name":"end-stage renal disease","score":0.7369999885559082}],"concepts":[{"id":"https://openalex.org/C2778415529","wikidata":"https://www.wikidata.org/wiki/Q1435223","display_name":"Focal segmental glomerulosclerosis","level":4,"score":0.9057660698890686},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5083629488945007},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4743463099002838},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4250485897064209},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41150274872779846},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.40688085556030273},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.36671286821365356},{"id":"https://openalex.org/C2780368995","wikidata":"https://www.wikidata.org/wiki/Q605006","display_name":"Glomerulonephritis","level":3,"score":0.349785178899765},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.27245327830314636},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11547219753265381}],"mesh":[{"descriptor_ui":"D000080865","descriptor_name":"Formins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","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":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005923","descriptor_name":"Glomerulosclerosis, Focal Segmental","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005923","descriptor_name":"Glomerulosclerosis, Focal Segmental","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","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":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008840","descriptor_name":"Microfilament Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008958","descriptor_name":"Models, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017386","descriptor_name":"Sequence Homology, Amino Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017434","descriptor_name":"Protein Structure, Tertiary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050505","descriptor_name":"Mutant Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1038/ki.2011.297","doi":"https://doi.org/10.1038/ki.2011.297","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ki.2011.297","pdf_url":null,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney International","raw_type":"journal-article"},{"id":"pmid:21866090","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21866090","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:europepmc.org:2688101","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3694501","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3694501","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3694501","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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Kidney Int","raw_type":"Text"},{"id":"pmh:oai:www.lenus.ie:10147/230473","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10147/230473","pdf_url":null,"source":{"id":"https://openalex.org/S4306401756","display_name":"Lenus, The Irish Health Repository (Dr Steevens Hospital Library)","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1038/ki.2011.297","doi":"https://doi.org/10.1038/ki.2011.297","is_oa":true,"landing_page_url":"https://doi.org/10.1038/ki.2011.297","pdf_url":null,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Kidney International","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.979200005531311,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G6684319066","display_name":"A New Locus for Hereditary FSGS on Chromosome 2p","funder_award_id":"K08DK082495","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G689101380","display_name":"Center for Molecular & Cellular Studies of Ped Disease","funder_award_id":"K12HD043494","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320308917","display_name":"Nephcure Foundation","ror":"https://ror.org/043bb8m89"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1966232244","https://openalex.org/W1969774286","https://openalex.org/W1988051514","https://openalex.org/W2017821848","https://openalex.org/W2030222262","https://openalex.org/W2031098987","https://openalex.org/W2039583266","https://openalex.org/W2043394285","https://openalex.org/W2048677414","https://openalex.org/W2054225562","https://openalex.org/W2060259273","https://openalex.org/W2060531484","https://openalex.org/W2079744030","https://openalex.org/W2110230080","https://openalex.org/W2113179909","https://openalex.org/W2129416468","https://openalex.org/W2132739680","https://openalex.org/W2132940916","https://openalex.org/W2134810339","https://openalex.org/W2140277420","https://openalex.org/W2160938004"],"related_works":["https://openalex.org/W2054986021","https://openalex.org/W2081673717","https://openalex.org/W2888525578","https://openalex.org/W2350367096","https://openalex.org/W4295066857","https://openalex.org/W2132739680","https://openalex.org/W1519168396","https://openalex.org/W51495442","https://openalex.org/W2462290766","https://openalex.org/W4415205777"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":7}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
