{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T14:14:40Z","timestamp":1777644880983,"version":"3.51.4"},"reference-count":52,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["EY016379"],"award-info":[{"award-number":["EY016379"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["1R01DK132299-01"],"award-info":[{"award-number":["1R01DK132299-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01DK034818"],"award-info":[{"award-number":["R01DK034818"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100022690","name":"Juvenile Diabetes Research Foundation","doi-asserted-by":"publisher","award":["17-2013-7"],"award-info":[{"award-number":["17-2013-7"]}],"id":[{"id":"10.13039\/100022690","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UKRI MRC","doi-asserted-by":"publisher","award":["MC_PC_22005"],"award-info":[{"award-number":["MC_PC_22005"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UKRI MRC","doi-asserted-by":"publisher","award":["MC_PC_20026"],"award-info":[{"award-number":["MC_PC_20026"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009881","name":"Juvenile Diabetes Research Foundation Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009881","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016337","name":"Department for the Economy","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016337","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015736","name":"Folkh\u00e4lsanin Tutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015736","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"NIDDK","doi-asserted-by":"publisher","award":["U54DK137314"],"award-info":[{"award-number":["U54DK137314"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001602","name":"Science Foundation Ireland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001602","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100022018","name":"Genesis HealthCare System","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100022018","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004616","name":"Consiliul National al Cercetarii Stiintifice","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004616","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007921","name":"University of Pittsburgh","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","award":["NNF23OC0082732"],"award-info":[{"award-number":["NNF23OC0082732"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008376","name":"Helsingin ja Uudenmaan Sairaanhoitopiiri","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008376","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016526","name":"George M. O'Brien Michigan Kidney Translational Core Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016526","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["316664"],"award-info":[{"award-number":["316664"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014013","name":"UK Research and Innovation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008457","name":"University of Virginia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008457","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["kireports.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International Reports\u00ae"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1016\/j.ekir.2025.09.053","type":"journal-article","created":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T02:49:40Z","timestamp":1761187780000},"page":"219-232","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Exome-Wide Analysis Identifies a Rare EXD3 Missense Variant Associated With Diabetic Kidney Disease"],"prefix":"10.1016","volume":"11","author":[{"given":"Niina","family":"Sandholm","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne B.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viji","family":"Nair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eoin","family":"Brennan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Giardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jani K.","family":"Haukka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eunji","family":"Ha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Syreeni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma H.","family":"Dahlstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rany M.","family":"Salem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damian","family":"Fermin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josep","family":"Mercader","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Smyth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Hill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josyf","family":"Mychaleckyj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart","family":"McGurnaghan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel G.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina","family":"Costacou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara E.K.","family":"Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet","family":"Snell-Bergeon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew D.","family":"Paterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rasa","family":"Verkauskiene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jelizaveta","family":"Sokolovska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolae Mircea","family":"Panduru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianpaolo","family":"Zerbini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin","family":"Brismar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrzej S.","family":"Krolewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valma","family":"Harjutsalo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Rossing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samy","family":"Hadjadj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gareth","family":"McKay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy Jayne","family":"McKnight","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander P.","family":"Maxwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Susztak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Godson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Kretzler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel N.","family":"Hirschhorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose C.","family":"Florez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per-Henrik","family":"Groop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel N.","family":"Hirschhorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose C.","family":"Florez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqi","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma H.","family":"Dahlstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Syreeni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erkka","family":"Valo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valma","family":"Harjutsalo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per-Henrik","family":"Groop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niina","family":"Sandholm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura J.","family":"Smyth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katie","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Kilner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yogesh","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Hill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Wooster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerry","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy Jayne","family":"McKnight","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander P.","family":"Maxwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ciar\u00e1n","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Giardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ross","family":"Doyle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eoin","family":"Brennan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darrell","family":"Andrews","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Sadlier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Finian","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Godson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viji","family":"Nair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damian","family":"Fermin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lalita","family":"Subramanian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Kretzler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbo","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Susztak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rany M.","family":"Salem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne B.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ekir.2025.09.053_bib1","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/S2213-8587(22)00099-7","article-title":"Incidence rate patterns, cumulative incidence, and time trends for moderate and severe albuminuria in individuals diagnosed with type 1 diabetes aged 0\u201314 years: a population-based retrospective cohort study","volume":"10","author":"Jansson Sigfrids","year":"2022","journal-title":"Lancet Diabetes Endocrinol"},{"key":"10.1016\/j.ekir.2025.09.053_bib2","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1681\/ASN.2016020231","article-title":"The genetic landscape of renal complications in type 1 diabetes","volume":"28","author":"Sandholm","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2025.09.053_bib3","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002921","article-title":"New susceptibility Loci associated with kidney disease in type 1 diabetes","volume":"8","author":"Sandholm","year":"2012","journal-title":"PLoS Genet"},{"key":"10.1016\/j.ekir.2025.09.053_bib4","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.2337\/db17-0914","article-title":"A genome-wide association study of diabetic kidney disease in subjects with type 2 diabetes","volume":"67","author":"van Zuydam","year":"2018","journal-title":"Diabetes"},{"key":"10.1016\/j.ekir.2025.09.053_bib5","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/s40246-019-0205-7","article-title":"Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans","volume":"13","author":"Guan","year":"2019","journal-title":"Hum Genomics"},{"key":"10.1016\/j.ekir.2025.09.053_bib6","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005352","article-title":"Genome-wide association and trans-ethnic meta-analysis for advanced diabetic kidney disease: family investigation of nephropathy and diabetes (FIND)","volume":"11","author":"Iyengar","year":"2015","journal-title":"PLoS Genet"},{"key":"10.1016\/j.ekir.2025.09.053_bib7","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1681\/ASN.2019030218","article-title":"Genome-wide association study of diabetic kidney disease highlights biology involved in glomerular basement membrane collagen","volume":"30","author":"Salem","year":"2019","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2025.09.053_bib8","doi-asserted-by":"crossref","first-page":"4130","DOI":"10.1038\/s41467-019-11576-0","article-title":"Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria","volume":"10","author":"Teumer","year":"2019","journal-title":"Nat Commun"},{"key":"10.1016\/j.ekir.2025.09.053_bib9","first-page":"1495","article-title":"Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease","volume":"69","author":"Sandholm","year":"2021","journal-title":"Diabetologia"},{"key":"10.1016\/j.ekir.2025.09.053_bib10","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/s42003-022-03448-z","article-title":"Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals","volume":"5","author":"Winkler","year":"2022","journal-title":"Commun Biol"},{"key":"10.1016\/j.ekir.2025.09.053_bib11","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/s40246-022-00422-y","article-title":"Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis","volume":"16","author":"Khattab","year":"2022","journal-title":"Hum Genomics"},{"key":"10.1016\/j.ekir.2025.09.053_bib12","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1681\/ASN.0000000718","article-title":"Genome-wide association study of quantitative kidney function in 52,531 individuals with diabetes identifies five diabetes-specific loci","volume":"36","author":"Cole","year":"2025","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2025.09.053_bib13","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ekir.2025.09.053_bib14","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1038\/s41591-022-01957-2","article-title":"Genetic risk factors have a substantial impact on healthy life years","volume":"28","author":"Jukarainen","year":"2022","journal-title":"Nat Med"},{"key":"10.1016\/j.ekir.2025.09.053_bib15","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1038\/s41588-021-01011-w","article-title":"Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank","volume":"54","author":"Jurgens","year":"2022","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2025.09.053_bib16","doi-asserted-by":"crossref","first-page":"2634","DOI":"10.1681\/ASN.2020101457","article-title":"Association of coding variants in hydroxysteroid 17-beta dehydrogenase 14 (HSD17B14) with reduced progression to end stage kidney disease in type 1 diabetes","volume":"32","author":"Mychaleckyj","year":"2021","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2025.09.053_bib17","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1681\/ASN.2019030289","article-title":"Whole-genome sequencing of finnish type 1 diabetic siblings discordant for kidney disease reveals DNA variants associated with diabetic nephropathy","volume":"31","author":"Guo","year":"2020","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2025.09.053_bib18","doi-asserted-by":"crossref","first-page":"2494","DOI":"10.1007\/s00125-024-06241-1","article-title":"Whole-exome and whole-genome sequencing of 1064 individuals with type 1 diabetes reveals novel genes for diabetic kidney disease","volume":"67","author":"Haukka","year":"2024","journal-title":"Diabetologia"},{"key":"10.1016\/j.ekir.2025.09.053_bib19","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1016\/j.cell.2018.09.049","article-title":"Low frequency and rare-coding variation contributes to multiple sclerosis risk","volume":"175","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.ekir.2025.09.053_bib20","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddac290","article-title":"Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease","volume":"32","author":"Pan","year":"2023","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ekir.2025.09.053_bib21","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1186\/s13073-022-01135-6","article-title":"Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations","volume":"14","author":"Sandholm","year":"2022","journal-title":"Genome Med"},{"key":"10.1016\/j.ekir.2025.09.053_bib22","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2025.09.053_bib23","doi-asserted-by":"crossref","DOI":"10.1126\/science.adj1182","article-title":"Diversity and scale: genetic architecture of 2068 traits in the VA Million Veteran Program","volume":"385","author":"Verma","year":"2024","journal-title":"Science"},{"key":"10.1016\/j.ekir.2025.09.053_bib24","series-title":"Bioinformatics and Computational Biology Solutions Using R and Bioconductor","first-page":"397","article-title":"limma: linear Models for microarray Data","author":"Smyth","year":"2005"},{"key":"10.1016\/j.ekir.2025.09.053_bib25","doi-asserted-by":"crossref","first-page":"1862","DOI":"10.1101\/gr.155697.113","article-title":"Defining cell-type specificity at the transcriptional level in human disease","volume":"23","author":"Ju","year":"2013","journal-title":"Genome Res"},{"key":"10.1016\/j.ekir.2025.09.053_bib26","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0136994","article-title":"Molecular markers of tubulointerstitial fibrosis and tubular cell damage in patients with chronic kidney disease","volume":"10","author":"Nakagawa","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.ekir.2025.09.053_bib27","doi-asserted-by":"crossref","first-page":"2354","DOI":"10.2337\/db10-1181","article-title":"Transcriptome analysis of human diabetic kidney disease","volume":"60","author":"Woroniecka","year":"2011","journal-title":"Diabetes"},{"key":"10.1016\/j.ekir.2025.09.053_bib28","doi-asserted-by":"crossref","first-page":"2993","DOI":"10.2337\/db06-0477","article-title":"Modular activation of nuclear factor-kappaB transcriptional programs in human diabetic nephropathy","volume":"55","author":"Schmid","year":"2006","journal-title":"Diabetes"},{"key":"10.1016\/j.ekir.2025.09.053_bib29","doi-asserted-by":"crossref","first-page":"2301","DOI":"10.2337\/db19-0204","article-title":"Comparison of kidney transcriptomic profiles of early and advanced diabetic nephropathy reveals potential new mechanisms for disease progression","volume":"68","author":"Fan","year":"2019","journal-title":"Diabetes"},{"key":"10.1016\/j.ekir.2025.09.053_bib30","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1093\/ndt\/gfaa121","article-title":"Novel insights into the disease transcriptome of human diabetic glomeruli and tubulointerstitium","volume":"35","author":"Levin","year":"2020","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.ekir.2025.09.053_bib31","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.3390\/genes14051029","article-title":"Differential methylation of telomere-related genes is associated with kidney disease in individuals with type 1 diabetes","volume":"14","author":"Hill","year":"2023","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.ekir.2025.09.053_bib32","doi-asserted-by":"crossref","first-page":"W537","DOI":"10.1093\/nar\/gky379","article-title":"The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update","volume":"46","author":"Afgan","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ekir.2025.09.053_bib33","doi-asserted-by":"crossref","first-page":"R29","DOI":"10.1186\/gb-2014-15-2-r29","article-title":"voom: Precision weights unlock linear model analysis tools for RNA-seq read counts","volume":"15","author":"Law","year":"2014","journal-title":"Genome Biol"},{"key":"10.1016\/j.ekir.2025.09.053_bib34","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"J R Stat Soc B"},{"key":"10.1016\/j.ekir.2025.09.053_bib35","doi-asserted-by":"crossref","first-page":"2069","DOI":"10.1681\/ASN.2018020125","article-title":"Single-cell transcriptomics of a human kidney allograft biopsy specimen defines a diverse inflammatory response","volume":"29","author":"Wu","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2025.09.053_bib36","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1038\/s41588-024-01802-x","article-title":"Single-cell multi-omic and spatial profiling of human kidneys implicates the fibrotic microenvironment in kidney disease progression","volume":"56","author":"Abedini","year":"2024","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2025.09.053_bib37","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1681\/ASN.V133630","article-title":"A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression","volume":"13","author":"Saleem","year":"2002","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2025.09.053_bib38","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"10.1016\/j.ekir.2025.09.053_bib39","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1038\/s41597-024-03327-8","article-title":"Analysis of AlphaMissense data in different protein groups and structural context","volume":"11","author":"Tordai","year":"2024","journal-title":"Sci Data"},{"key":"10.1016\/j.ekir.2025.09.053_bib40","doi-asserted-by":"crossref","first-page":"eadp4753","DOI":"10.1126\/science.adp4753","article-title":"Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants","volume":"387","author":"Liu","year":"2025","journal-title":"Science"},{"key":"10.1016\/j.ekir.2025.09.053_bib41","doi-asserted-by":"crossref","first-page":"3659","DOI":"10.1016\/j.cell.2023.07.002","article-title":"Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer","volume":"186","author":"Mukamel","year":"2023","journal-title":"Cell"},{"key":"10.1016\/j.ekir.2025.09.053_bib42","doi-asserted-by":"crossref","first-page":"2440","DOI":"10.1016\/S0021-9258(17)41965-X","article-title":"Molecular cloning of human intestinal mucin (MUC2) cDNA. Identification of the amino terminus and overall sequence similarity to prepro-von Willebrand factor","volume":"269","author":"Gum","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ekir.2025.09.053_bib43","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/ng.2609","article-title":"Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis","volume":"45","author":"Fingerlin","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2025.09.053_bib44","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0025452","article-title":"Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: significant association with MUC5AC","volume":"6","author":"Guo","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ekir.2025.09.053_bib45","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng.2543","article-title":"Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing","volume":"45","author":"Kirby","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2025.09.053_bib46","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.ekir.2025.09.053_bib47","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.101036","article-title":"Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance\/Risk Allele Working Group","volume":"26","author":"Schmidt","year":"2024","journal-title":"Genet Med"},{"key":"10.1016\/j.ekir.2025.09.053_bib48","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1038\/nrneph.2010.96","article-title":"Diabetic nephropathy: diabetic nephropathy-challenges in pathologic classification","volume":"6","author":"Fioretto","year":"2010","journal-title":"Nat Rev Nephrol"},{"key":"10.1016\/j.ekir.2025.09.053_bib49","doi-asserted-by":"crossref","DOI":"10.1093\/genetics\/iyab011","article-title":"Why are rare variants hard to impute? Coalescent models reveal theoretical limits in existing algorithms","volume":"217","author":"Si","year":"2021","journal-title":"Genetics"},{"key":"10.1016\/j.ekir.2025.09.053_bib50","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1038\/s41588-018-0084-1","article-title":"Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes","volume":"50","author":"Mahajan","year":"2018","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2025.09.053_bib51","doi-asserted-by":"crossref","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.ekir.2025.09.053_bib52","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.ajhg.2011.05.029","article-title":"Rare-variant association testing for sequencing data with the sequence kernel association test","volume":"89","author":"Wu","year":"2011","journal-title":"Am J Hum Genet"}],"container-title":["Kidney International Reports\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2468024925006497?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2468024925006497?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T10:31:14Z","timestamp":1773829874000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2468024925006497"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":52,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["S2468024925006497"],"URL":"https:\/\/doi.org\/10.1016\/j.ekir.2025.09.053","relation":{},"ISSN":["2468-0249"],"issn-type":[{"value":"2468-0249","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Exome-Wide Analysis Identifies a Rare EXD3 Missense Variant Associated With Diabetic Kidney Disease","name":"articletitle","label":"Article Title"},{"value":"Kidney International Reports\u00ae","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ekir.2025.09.053","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 International Society of Nephrology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}