{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T07:47:42Z","timestamp":1790063262367,"version":"4.0.1"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2019,5]]},"abstract":"\n Significance Statement<\/jats:title>\n \n Mutations in >50 genes can lead to monogenic steroid-resistant nephrotic syndrome (SRNS). The authors found that a young patient with familial SRNS and FSGS carried novel compound-heterozygous mutations in\n NUP160<\/jats:italic>\n ; this gene encodes nucleoporin 160 kD, one of the protein components of the nuclear pore complex. Using an\n in vivo<\/jats:italic>\n renal cell assay on the basis of\n Drosophila<\/jats:italic>\n nephrocytes (an experimental podocyte model previously used to validate candidate renal disease genes and specific patient-derived mutant alleles), they validated the\n NUP160<\/jats:italic>\n gene variants as factors implicated in kidney pathology. The findings indicate that\n NUP160<\/jats:italic>\n should be included in the SRNS diagnostic gene panel to identify additional patients with SRNS carrying homozygous or compound-heterozygous\n NUP160<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Background<\/jats:title>\n \n Studies have identified mutations in >50 genes that can lead to monogenic steroid-resistant nephrotic syndrome (SRNS). The\n NUP160<\/jats:italic>\n gene, which encodes one of the protein components of the nuclear pore complex nucleoporin 160 kD (Nup160), is expressed in both human and mouse kidney cells. Knockdown of\n NUP160<\/jats:italic>\n impairs mouse podocytes in cell culture. Recently, siblings with SRNS and proteinuria in a nonconsanguineous family were found to carry compound-heterozygous mutations in\n NUP160<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We identified\n NUP160<\/jats:italic>\n mutations by whole-exome and Sanger sequencing of genomic DNA from a young girl with familial SRNS and FSGS who did not carry mutations in other genes known to be associated with SRNS. We performed\n in vivo<\/jats:italic>\n functional validation studies on the\n NUP160<\/jats:italic>\n mutations using a\n Drosophila<\/jats:italic>\n model.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We identified two compound-heterozygous\n NUP160<\/jats:italic>\n mutations,\n NUP160R1173\u00d7<\/jats:italic>\n and\n NUP160E803K<\/jats:italic>\n . We showed that silencing of\n Drosophila NUP160<\/jats:italic>\n specifically in nephrocytes (fly renal cells) led to functional abnormalities, reduced cell size and nuclear volume, and disorganized nuclear membrane structure. These defects were completely rescued by expression of the wild-type human\n NUP160<\/jats:italic>\n gene in nephrocytes. By contrast, expression of the\n NUP160<\/jats:italic>\n mutant allele\n NUP160R1173\u00d7<\/jats:italic>\n completely failed to rescue nephrocyte phenotypes, and mutant allele\n NUP160E803K<\/jats:italic>\n rescued only nuclear pore complex and nuclear lamin localization defects.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Mutations in\n NUP160<\/jats:italic>\n are implicated in SRNS. Our findings indicate that\n NUP160<\/jats:italic>\n should be included in the SRNS diagnostic gene panel to identify additional patients with SRNS and homozygous or compound-heterozygous\n NUP160<\/jats:italic>\n mutations and further strengthen the evidence that\n NUP160<\/jats:italic>\n mutations can cause SRNS.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1681\/asn.2018080786","type":"journal-article","created":{"date-parts":[[2019,3,25]],"date-time":"2019-03-25T12:46:05Z","timestamp":1553517965000},"page":"840-853","source":"Crossref","is-referenced-by-count":43,"title":["Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome"],"prefix":"10.1681","volume":"30","author":[{"given":"Feng","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People\u2019s Republic of China;"},{"name":"Center for Genetic Medicine Research, Children\u2019s National Health System, Washington, DC;"},{"name":"Department of Pediatrics, Affiliated Dongfang Hospital, Xiamen University, Fujian, People\u2019s Republic of China;"},{"name":"Department of Pediatrics, Fuzhou Clinical Medical College, Fujian Medical University, Fujian, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4517-101X","authenticated-orcid":false,"given":"Jun-yi","family":"Zhu","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children\u2019s National Health System, Washington, DC;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Richman","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children\u2019s National Health System, Washington, DC;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yulong","family":"Fu","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children\u2019s National Health System, Washington, DC;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Huang","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children\u2019s National Health System, Washington, DC;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, People\u2019s Republic of China; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxia","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, People\u2019s Republic of China; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuili","family":"Yi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohua","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Si","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Nie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People\u2019s Republic of China;"},{"name":"Department of Pediatrics, Affiliated Dongfang Hospital, Xiamen University, Fujian, People\u2019s Republic of China;"},{"name":"Department of Pediatrics, Fuzhou Clinical Medical College, Fujian Medical University, Fujian, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People\u2019s Republic of China;"},{"name":"Department of Pediatrics, Affiliated Dongfang Hospital, Xiamen University, Fujian, People\u2019s Republic of China;"},{"name":"Department of Pediatrics, Fuzhou Clinical Medical College, Fujian Medical University, Fujian, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonghui","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People\u2019s Republic of China;"},{"name":"Department of Pediatrics, Affiliated Dongfang Hospital, Xiamen University, Fujian, People\u2019s Republic of China;"},{"name":"Department of Pediatrics, Fuzhou Clinical Medical College, Fujian Medical University, Fujian, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5137-7842","authenticated-orcid":false,"given":"Zihua","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuzhou Dongfang Hospital, Fujian, People\u2019s Republic of China;"},{"name":"Department of Pediatrics, Affiliated Dongfang Hospital, Xiamen University, Fujian, People\u2019s Republic of China;"},{"name":"Department of Pediatrics, Fuzhou Clinical Medical College, Fujian Medical University, Fujian, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Han","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research, Children\u2019s National Health System, Washington, DC;"},{"name":"Department of Genomics and Precision Medicine, The George Washington University School of Medicine and Health Sciences, Washington, DC"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2019,3,25]]},"reference":[{"key":"B1-20230819","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1038\/sj.ki.5002222","article-title":"The spectrum of podocytopathies: A unifying view of glomerular diseases.","volume":"71","author":"Wiggins","year":"2007","journal-title":"Kidney Int"},{"key":"B2-20230819","doi-asserted-by":"crossref","first-page":"592","DOI":"10.2215\/CJN.06260614","article-title":"Spectrum of steroid-resistant and congenital nephrotic syndrome in children: The PodoNet registry cohort.","volume":"10","author":"Trautmann","year":"2015","journal-title":"Clin J Am Soc 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