{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T19:24:54Z","timestamp":1792092294122,"version":"4.4.0"},"reference-count":28,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T00:00:00Z","timestamp":1540166400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T00:00:00Z","timestamp":1540166400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005881","name":"Emberi Eroforr\u00e1sok Miniszt\u00e9riuma","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005881","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011102","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["2012-305608"],"award-info":[{"award-number":["2012-305608"]}],"id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003825","name":"Magyar Tudom\u00e1nyos Akad\u00e9mia","doi-asserted-by":"publisher","award":["MTA-SE Lendulet Research Grant (LP2015-11\/2015)"],"award-info":[{"award-number":["MTA-SE Lendulet Research Grant (LP2015-11\/2015)"]}],"id":[{"id":"10.13039\/501100003825","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003825","name":"Magyar Tudom\u00e1nyos Akad\u00e9mia","doi-asserted-by":"publisher","award":["MedinProt Synergy Grant (DKM,\u00a0KT)"],"award-info":[{"award-number":["MedinProt Synergy Grant (DKM,\u00a0KT)"]}],"id":[{"id":"10.13039\/501100003825","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003827","name":"Nemzeti Kutat\u00e1si \u00e9s Technol\u00f3giai Hivatal","doi-asserted-by":"publisher","award":["K109718"],"award-info":[{"award-number":["K109718"]}],"id":[{"id":"10.13039\/501100003827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003827","name":"Nemzeti Kutat\u00e1si \u00e9s Technol\u00f3giai Hivatal","doi-asserted-by":"publisher","award":["K116305"],"award-info":[{"award-number":["K116305"]}],"id":[{"id":"10.13039\/501100003827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003827","name":"Nemzeti Kutat\u00e1si \u00e9s Technol\u00f3giai Hivatal","doi-asserted-by":"publisher","award":["KH125566"],"award-info":[{"award-number":["KH125566"]}],"id":[{"id":"10.13039\/501100003827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003827","name":"Nemzeti Kutat\u00e1si \u00e9s Technol\u00f3giai Hivatal","doi-asserted-by":"publisher","award":["EFOP-3.6.3-EKOP-16-2017-00009"],"award-info":[{"award-number":["EFOP-3.6.3-EKOP-16-2017-00009"]}],"id":[{"id":"10.13039\/501100003827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-12-BSV1-0033.01"],"award-info":[{"award-number":["ANR-12-BSV1-0033.01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1002\/humu.23660","type":"journal-article","created":{"date-parts":[[2018,9,27]],"date-time":"2018-09-27T14:13:47Z","timestamp":1538057627000},"page":"1854-1860","source":"Crossref","is-referenced-by-count":32,"title":["The mutation-dependent pathogenicity of<i>NPHS2<\/i>p.R229Q: A guide for clinical assessment"],"prefix":"10.1155","volume":"39","author":[{"given":"\u00c1gnes","family":"Mik\u00f3","sequence":"first","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory; Budapest Hungary"},{"name":"Semmelweis University; Ist Department of Pediatrics; Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00f3ra","family":"K. Menyh\u00e1rd","sequence":"additional","affiliation":[{"name":"MTA-ELTE Protein Modeling Research Group and Laboratory of Structural Chemistry and Biology; E\u00f6tv\u00f6s Lor\u00e1nd University; Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ambrus","family":"Kaposi","sequence":"additional","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory; Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[{"name":"Laboratory of Hereditary Kidney Diseases, INSERM, UMR 1163, Imagine Institute; Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9; Paris France"},{"name":"Assistance Publique - H\u00f4pitaux de Paris, H\u00f4pital Necker-Enfants Malades; D\u00e9partement de G\u00e9n\u00e9tique; Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0316-6212","authenticated-orcid":false,"given":"K\u00e1lm\u00e1n","family":"Tory","sequence":"additional","affiliation":[{"name":"MTA-SE Lend\u00fclet Nephrogenetic Laboratory; Budapest Hungary"},{"name":"Semmelweis University; Ist Department of Pediatrics; Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,22]]},"reference":[{"issue":"7","key":"10.1002\/humu.23660-BIB0001|humu23660-cit-0001","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1038\/jhg.2013.27","article-title":"A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families","volume":"58","author":"Al-Hamed","year":"2013","journal-title":"Journal of Human Genetics"},{"issue":"12","key":"10.1002\/humu.23660-BIB0002|humu23660-cit-0002","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1007\/s00467-007-0595-y","article-title":"NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome","volume":"22","author":"Berdeli","year":"2007","journal-title":"Pediatric Nephrology"},{"issue":"6","key":"10.1002\/humu.23660-BIB0003|humu23660-cit-0003","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1016\/S0272-6386(03)00364-0","article-title":"Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin","volume":"41","author":"Bertelli","year":"2003","journal-title":"American Journal of Kidney Diseases"},{"issue":"4","key":"10.1002\/humu.23660-BIB0004|humu23660-cit-0004","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/74166","article-title":"NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome","volume":"24","author":"Boute","year":"2000","journal-title":"Nature Genetics"},{"issue":"11","key":"10.1002\/humu.23660-BIB0005|humu23660-cit-0005","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.2215\/CJN.01190210","article-title":"Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome","volume":"5","author":"Buscher","year":"2010","journal-title":"Clinical Journal of the American Society of Nephrology"},{"issue":"12","key":"10.1002\/humu.23660-BIB0006|humu23660-cit-0006","doi-asserted-by":"crossref","first-page":"2742","DOI":"10.1681\/ASN.V12122742","article-title":"Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis","volume":"12","author":"Caridi","year":"2001","journal-title":"Journal of the American Society of Nephrology"},{"issue":"2","key":"10.1002\/humu.23660-BIB0007|humu23660-cit-0007","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s00467-009-1315-6","article-title":"Adequate use of allele frequencies in Hispanics-a problem elucidated in nephrotic syndrome","volume":"25","author":"Chernin","year":"2010","journal-title":"Pediatric Nephrology"},{"issue":"1","key":"10.1002\/humu.23660-BIB0008|humu23660-cit-0008","doi-asserted-by":"crossref","first-page":"31","DOI":"10.2215\/CJN.02690806","article-title":"Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis","volume":"2","author":"He","year":"2007","journal-title":"Clinical Journal of the American Society of Nephrology"},{"issue":"2","key":"10.1002\/humu.23660-BIB0009|humu23660-cit-0009","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1681\/ASN.2007040452","article-title":"Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome","volume":"19","author":"Hinkes","year":"2008","journal-title":"Journal of the American Society of Nephrology"},{"issue":"4","key":"10.1002\/humu.23660-BIB0010|humu23660-cit-0010","doi-asserted-by":"crossref","first-page":"e907","DOI":"10.1542\/peds.2006-2164","article-title":"Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)","volume":"119","author":"Hinkes","year":"2007","journal-title":"Pediatrics"},{"issue":"2","key":"10.1002\/humu.23660-BIB0011|humu23660-cit-0011","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1007\/s00467-008-0953-4","article-title":"Genetic forms of nephrotic syndrome: A single-center experience in Brussels","volume":"24","author":"Ismaili","year":"2009","journal-title":"Pediatric Nephrology"},{"issue":"3","key":"10.1002\/humu.23660-BIB0012|humu23660-cit-0012","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1681\/ASN.2010010029","article-title":"Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation","volume":"22","author":"Jungraithmayr","year":"2011","journal-title":"Journal of the American Society of Nephrology"},{"issue":"2","key":"10.1002\/humu.23660-BIB0013|humu23660-cit-0013","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1681\/ASN.V132388","article-title":"Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome","volume":"13","author":"Karle","year":"2002","journal-title":"Journal of the American Society of Nephrology"},{"issue":"10","key":"10.1002\/humu.23660-BIB0014|humu23660-cit-0014","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1007\/s00467-013-2542-4","article-title":"NPHS2 homozygous p.R229Q variant: Potential modifier instead of causal effect in focal segmental glomerulosclerosis","volume":"28","author":"Kerti","year":"2013","journal-title":"Pediatric Nephrology"},{"issue":"7616","key":"10.1002\/humu.23660-BIB0015|humu23660-cit-0015","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"issue":"1","key":"10.1002\/humu.23660-BIB0016|humu23660-cit-0016","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1038\/ki.2013.93","article-title":"Genetic screening in adolescents with steroid-resistant nephrotic syndrome","volume":"84","author":"Lipska","year":"2013","journal-title":"Kidney International"},{"issue":"7","key":"10.1002\/humu.23660-BIB0017|humu23660-cit-0017","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ki.2008.650","article-title":"Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant","volume":"75","author":"Machuca","year":"2009","journal-title":"Kidney International"},{"issue":"2","key":"10.1002\/humu.23660-BIB0018|humu23660-cit-0018","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1089\/gtmb.2008.0083","article-title":"Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome","volume":"13","author":"Megremis","year":"2009","journal-title":"Genetic Testing and Molecular Biomarkers"},{"issue":"3","key":"10.1002\/humu.23660-BIB0019|humu23660-cit-0019","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1097\/01.ASN.0000113552.59155.72","article-title":"Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome","volume":"15","author":"Ruf","year":"2004","journal-title":"Journal of the American Society of Nephrology"},{"issue":"6","key":"10.1002\/humu.23660-BIB0020|humu23660-cit-0020","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1681\/ASN.2014050489","article-title":"A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome","volume":"26","author":"Sadowski","year":"2015","journal-title":"Journal of the American Society of Nephrology"},{"issue":"12","key":"10.1002\/humu.23660-BIB0021|humu23660-cit-0021","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1038\/ki.2009.381","article-title":"Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis","volume":"76","author":"Santin","year":"2009","journal-title":"Kidney International"},{"issue":"2","key":"10.1002\/humu.23660-BIB0022|humu23660-cit-0022","doi-asserted-by":"crossref","first-page":"344","DOI":"10.2215\/CJN.03770410","article-title":"Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome","volume":"6","author":"Santin","year":"2011","journal-title":"Journal of the American Society of Nephrology"},{"issue":"7","key":"10.1002\/humu.23660-BIB0023|humu23660-cit-0023","doi-asserted-by":"crossref","first-page":"2448","DOI":"10.1016\/j.bbadis.2018.04.008","article-title":"C-terminal oligomerization of podocin mediates interallelic interactions","volume":"864","author":"Straner","year":"2018","journal-title":"Biochimica et Biophysica Acta"},{"key":"10.1002\/humu.23660-BIB0024|humu23660-cit-0024","article-title":"Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern","author":"Suvanto","year":"2016","journal-title":"Clinical and Experimental Nephrology"},{"key":"10.1002\/humu.23660-BIB0025|humu23660-cit-0025","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1471-2369-9-13","article-title":"NPHS2 variation in focal and segmental glomerulosclerosis","volume":"9","author":"Tonna","year":"2008","journal-title":"Bmc Nephrology [Electronic Resource]"},{"issue":"3","key":"10.1002\/humu.23660-BIB0026|humu23660-cit-0026","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng.2898","article-title":"Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome","volume":"46","author":"Tory","year":"2014","journal-title":"Nature Genetics"},{"issue":"11","key":"10.1002\/humu.23660-BIB0027|humu23660-cit-0027","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1172\/JCI0216242","article-title":"NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele","volume":"110","author":"Tsukaguchi","year":"2002","journal-title":"Journal of Clinical Investigation"},{"issue":"8","key":"10.1002\/humu.23660-BIB0028|humu23660-cit-0028","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1007\/s00467-008-0804-3","article-title":"NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome","volume":"23","author":"Voskarides","year":"2008","journal-title":"Pediatric Nephrology"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23660","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.23660\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:59Z","timestamp":1672332959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23660"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,22]]},"references-count":28,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23660","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2018,10,22]]}}}