{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T06:32:23Z","timestamp":1762929143800,"version":"3.45.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T00:00:00Z","timestamp":1739404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Steroid\u2010resistant nephrotic syndrome (SRNS) is a severe kidney disorder linked to over 60 genes, including\n                    <jats:italic>NUP85<\/jats:italic>\n                    , which plays a key role in nuclear pore function and glomerulogenesis. We identified a novel homozygous\n                    <jats:italic>NUP85<\/jats:italic>\n                    variant (NM_024844.5: c.1379G\u2009&gt;\u2009A, p.Arg460Gln) in a pediatric SRNS patient who also presented with cleft lip\u2010palate and mild intellectual disability, marking the first reported association of these phenotypes with a\n                    <jats:italic>NUP85<\/jats:italic>\n                    variant. Molecular dynamics simulations revealed that the variant destabilizes the protein's helix bundle, providing mechanistic insights into its potential pathogenic effects. This study broadens the known phenotypic spectrum of NUP85\u2010related conditions and highlights the value of computational tools, such as molecular dynamics, in unraveling the impact of novel variants.\n                  <\/jats:p>","DOI":"10.1111\/cge.14703","type":"journal-article","created":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T02:58:31Z","timestamp":1739501911000},"page":"75-79","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85\u2010Associated Steroid\u2010Resistant Nephrotic Syndrome"],"prefix":"10.1111","volume":"108","author":[{"given":"Eda Didem","family":"Kurt\u2010\u015e\u00fck\u00fcr","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology Hacettepe University Faculty of Medicine  Ankara T\u00fcrkiye"},{"name":"Center for Genomics and Rare Diseases Hacettepe University  Ankara T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emel","family":"Timucin","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Medical Informatics, School of Medicine Acibadem University  Istanbul T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Turgut","family":"Ba\u015ftu\u011f","sequence":"additional","affiliation":[{"name":"Department of Biophysics, Faculty of Medicine Hacettepe University  Ankara T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1194-0164","authenticated-orcid":false,"given":"Fatih","family":"Ozaltin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Hacettepe University Faculty of Medicine  Ankara T\u00fcrkiye"},{"name":"Center for Genomics and Rare Diseases Hacettepe University  Ankara T\u00fcrkiye"},{"name":"Department of Bioinformatics Hacettepe University Institute of Health Sciences  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