{"id":"https://openalex.org/W4407624310","doi":"https://doi.org/10.1101/2025.02.11.637765","title":"A Novel TRPC6 Mutation Causes Autosomal Dominant FSGS","display_name":"A Novel TRPC6 Mutation Causes Autosomal Dominant FSGS","publication_year":2025,"publication_date":"2025-02-15","ids":{"openalex":"https://openalex.org/W4407624310","doi":"https://doi.org/10.1101/2025.02.11.637765"},"language":"en","primary_location":{"id":"doi:10.1101/2025.02.11.637765","doi":"https://doi.org/10.1101/2025.02.11.637765","is_oa":false,"landing_page_url":"https://doi.org/10.1101/2025.02.11.637765","pdf_url":null,"source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010425673","display_name":"Rohan Bhattacharya","orcid":"https://orcid.org/0000-0002-3663-9311","observed_orcids":["https://orcid.org/0000-0002-3663-9311"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rohan Bhattacharya","raw_affiliation_strings":["Center for Biomolecular and Tissue Engineering, Duke University, Durham, North Carolina 27705, USA","Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA","Stem Cell Program and Division of Hematology/Oncology, Boston Children\u2019s Hospital, Harvard Medical School; Boston MA 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biomolecular and Tissue Engineering, Duke University, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317"]},{"raw_affiliation_string":"Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317"]},{"raw_affiliation_string":"Stem Cell Program and Division of Hematology/Oncology, Boston Children\u2019s Hospital, Harvard Medical School; Boston MA 02115, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047633461","display_name":"Xingrui Mou","orcid":"https://orcid.org/0000-0002-4258-672X","observed_orcids":["https://orcid.org/0000-0002-4258-672X"]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xingrui Mou","raw_affiliation_strings":["Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113349962","display_name":"Sophia M. Leeman","orcid":"https://orcid.org/0009-0008-0118-280X","observed_orcids":["https://orcid.org/0009-0008-0118-280X"]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sophia M. Leeman","raw_affiliation_strings":["Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA","Department of Computer Science, Duke University, Durham, North Carolina 27705, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317"]},{"raw_affiliation_string":"Department of Computer Science, Duke University, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111744813","display_name":"Alekshyander Mishra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alekshyander Mishra","raw_affiliation_strings":["Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105763009","display_name":"Titilola D. Kalejaiye","orcid":"https://orcid.org/0000-0003-3934-4575","observed_orcids":["https://orcid.org/0000-0003-3934-4575"]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Titilola D. Kalejaiye","raw_affiliation_strings":["Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Megan Stangl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"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":"Megan Stangl","raw_affiliation_strings":["Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006490466","display_name":"Daniel Silas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"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":"Daniel Silas","raw_affiliation_strings":["Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005343837","display_name":"Karen L. Soldano","orcid":"https://orcid.org/0000-0003-0326-8443","observed_orcids":["https://orcid.org/0000-0003-0326-8443"]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"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":"Karen Soldano","raw_affiliation_strings":["Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019866566","display_name":"Christopher John Sperati","orcid":"https://orcid.org/0000-0002-8409-0714","observed_orcids":["https://orcid.org/0000-0002-8409-0714"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C. John Sperati","raw_affiliation_strings":["Duke Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Duke Division of Nephrology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011061122","display_name":"Opeyemi A. Olabisi","orcid":"https://orcid.org/0000-0003-0886-7605","observed_orcids":["https://orcid.org/0000-0003-0886-7605"]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"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":"Opeyemi Olabisi","raw_affiliation_strings":["Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA","institution_ids":["https://openalex.org/I170897317","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/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"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":["Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina 27701, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5062904860","display_name":"Samira Musah","orcid":"https://orcid.org/0000-0001-9432-6789","observed_orcids":["https://orcid.org/0000-0001-9432-6789"]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"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":"Samira Musah","raw_affiliation_strings":["Center for Biomolecular and Tissue Engineering, Duke University, Durham, North Carolina 27705, USA","Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA","Department of Cell Biology, Duke University, Durham, North Carolina 27710, USA","Developmental and Stem Cell Biology Program, Duke University, Durham, North Carolina 27710, USA","Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA"],"raw_orcid":"https://orcid.org/0000-0001-9432-6789","affiliations":[{"raw_affiliation_string":"Center for Biomolecular and Tissue Engineering, Duke University, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317"]},{"raw_affiliation_string":"Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317"]},{"raw_affiliation_string":"Department of Cell Biology, Duke University, Durham, North Carolina 27710, USA","institution_ids":["https://openalex.org/I170897317"]},{"raw_affiliation_string":"Developmental and Stem Cell Biology Program, Duke University, Durham, North Carolina 27710, USA","institution_ids":["https://openalex.org/I170897317"]},{"raw_affiliation_string":"Division of Nephrology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina 27705, USA","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5062904860"],"corresponding_institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.9990000128746033,"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":0.9990000128746033,"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":9.999999747378752e-05,"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/T10993","display_name":"Complement system in diseases","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/trpc6","display_name":"TRPC6","score":0.9150000214576721},{"id":"https://openalex.org/keywords/familial-focal-segmental-glomerulosclerosis","display_name":"familial focal segmental glomerulosclerosis","score":0.8799999952316284},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.902999997138977},{"id":"https://openalex.org/keywords/podocytes","display_name":"podocytes","score":0.9070000052452087},{"id":"https://openalex.org/keywords/sildenafil","display_name":"sildenafil","score":0.9129999876022339},{"id":"https://openalex.org/keywords/losartan","display_name":"losartan","score":0.9919999837875366},{"id":"https://openalex.org/keywords/intermolecular-interactions","display_name":"intermolecular interactions","score":0.6179999709129333}],"concepts":[{"id":"https://openalex.org/C128448793","wikidata":"https://www.wikidata.org/wiki/Q14914578","display_name":"TRPC6","level":4,"score":0.9008896946907043},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5510580539703369},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5361214876174927},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36019229888916016},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3550748825073242},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3284285068511963},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09032362699508667},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.055004268884658813},{"id":"https://openalex.org/C155164980","wikidata":"https://www.wikidata.org/wiki/Q304043","display_name":"Transient receptor potential channel","level":3,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1101/2025.02.11.637765","doi":"https://doi.org/10.1101/2025.02.11.637765","is_oa":false,"landing_page_url":"https://doi.org/10.1101/2025.02.11.637765","pdf_url":null,"source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W1972575833","https://openalex.org/W1993536160","https://openalex.org/W2015714994","https://openalex.org/W2055741407","https://openalex.org/W2063842030","https://openalex.org/W2108652316","https://openalex.org/W2110826103","https://openalex.org/W2140277420","https://openalex.org/W2141304029","https://openalex.org/W2146266459","https://openalex.org/W2322820007","https://openalex.org/W2329422424","https://openalex.org/W2559153737","https://openalex.org/W2605611454","https://openalex.org/W2612015400","https://openalex.org/W2911574805","https://openalex.org/W2941335149","https://openalex.org/W2994635267","https://openalex.org/W2997281400","https://openalex.org/W3009348385","https://openalex.org/W3083406432","https://openalex.org/W3111934502","https://openalex.org/W3156000398","https://openalex.org/W3193801167","https://openalex.org/W4207040471","https://openalex.org/W4281790889","https://openalex.org/W4293094820","https://openalex.org/W4307847498","https://openalex.org/W4388302906","https://openalex.org/W4389914260","https://openalex.org/W4392365010","https://openalex.org/W4396769848","https://openalex.org/W4399132178","https://openalex.org/W4399376634","https://openalex.org/W4401561592"],"related_works":["https://openalex.org/W6906439487","https://openalex.org/W2110379268","https://openalex.org/W4391533060","https://openalex.org/W7154724184","https://openalex.org/W2151601074","https://openalex.org/W2042277371","https://openalex.org/W2034579667","https://openalex.org/W3193079783","https://openalex.org/W2115106870","https://openalex.org/W4389025440"],"abstract_inverted_index":{"SUMMARY":[0],"FSGS":[1,16,35,53],"is":[2],"the":[3,14,74],"most":[4],"common":[5],"primary":[6],"glomerular":[7,23,68],"lesion":[8],"that":[9,73],"causes":[10],"kidney":[11],"failure":[12],"in":[13,31,43],"US.":[15],"results":[17],"from":[18],"injury":[19],"or":[20],"loss":[21],"of":[22,63],"visceral":[24],"epithelial":[25],"cells":[26],"(i.e.":[27],"podocytes).":[28],"Pathogenic":[29],"variants":[30,76],"TRPC6":[32,60,78],"can":[33],"cause":[34],"through":[36],"dysregulated":[37],"calcium":[38],"conductance":[39],"and":[40,67,83,90],"associated":[41],"disturbances":[42,94],"podocyte":[44],"physiology.":[45],"Here,":[46],"we":[47],"describe":[48],"a":[49,56],"5-generation":[50],"kindred":[51],"with":[52,88],"caused":[54],"by":[55],"novel":[57],"compound":[58,75],"C-terminal":[59],"mutation.":[61],"Analysis":[62],"patient-specific":[64],"iPSC-derived":[65],"podocytes":[66],"capillary":[69],"wall-on-a-chip":[70],"systems":[71],"revealed":[72],"disrupt":[77],"protein":[79],"structure,":[80],"intermolecular":[81],"interactions,":[82],"membrane":[84],"localization.":[85],"Combined":[86],"therapy":[87],"Sildenafil":[89],"Losartan":[91],"ameliorated":[92],"these":[93],"compared":[95],"to":[96],"conventional":[97],"immunosuppressive":[98],"treatment.":[99]},"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2025-02-17T00:00:00"}
