{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T09:47:03Z","timestamp":1789984023553,"version":"4.0.1"},"reference-count":17,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Case Rep"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>Mutations in CD2-associated protein (CD2AP) have been identified in patients with focal segmental glomerulosclerosis (FSGS); however, reports of CD2AP mutations remain scarce. We performed Sanger sequencing in a patient with steroid-resistant FSGS and identified a heterozygous CD2AP mutation (p.T374A, c.1120 A &gt; G). Our patient displayed mild cognitive decline, a phenotypic characteristic not previously associated with CD2AP-associated FSGS. His proteinuria was remarkably reduced by treatment with cyclosporine A. Our findings expand the genetic spectrum of CD2AP-associated disorders and broaden the associated phenotype with the co-occurrence of cognitive decline. Our case shows that cyclosporin A is a treatment option for CD2AP-associated nephropathy.<\/jats:p>","DOI":"10.4137\/ccrep.s30867","type":"journal-article","created":{"date-parts":[[2016,3,14]],"date-time":"2016-03-14T16:28:03Z","timestamp":1457972883000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":18,"title":["A\n                    <i>CD2AP<\/i>\n                    Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood"],"prefix":"10.4137","volume":"9","author":[{"given":"Dmitry","family":"Tsvetkov","sequence":"first","affiliation":[{"name":"Nephrology\/Intensive Care, Experimental and Clinical Research Center (ECRC), Charit\u00e9 University Medicine Berlin, Berlin, Germany."},{"name":"Max Delbr\u00dcck Center for Molecular Medicine, Berlin, Germany."},{"name":"DT and MH contributed equally; BR and MG are equal senior authors."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hohmann","sequence":"additional","affiliation":[{"name":"Dialyse Neuruppin, Neuruppin, Germany."},{"name":"DT and MH contributed equally; BR and MG are equal senior authors."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoland Marie","family":"Anistan","sequence":"additional","affiliation":[{"name":"Nephrology\/Intensive Care, Experimental and Clinical Research Center (ECRC), Charit\u00e9 University Medicine Berlin, Berlin, Germany."},{"name":"Max Delbr\u00dcck Center for Molecular Medicine, Berlin, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan","family":"Mannaa","sequence":"additional","affiliation":[{"name":"Nephrology\/Intensive Care, Charit\u00e9 Campus Virchow-Klinikum, Charit\u00e9 University Medicine Berlin, Berlin, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Harteneck","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Experimental Therapy, Institute of Experimental and Clinical Pharmacology and Toxicology, Eberhard Karls University Hospitals and Clinics, University of T\u00dcbingen, T\u00dcbingen, Germany."},{"name":"Interfaculty Center of Pharmacogenomics and Drug Research, T\u00dcbingen, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Rudolph","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Charit\u00e9 University Medicine Berlin, Berlin, Germany."},{"name":"DT and MH contributed equally; BR and MG are equal senior authors."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maik","family":"Gollasch","sequence":"additional","affiliation":[{"name":"Nephrology\/Intensive Care, Experimental and Clinical Research Center (ECRC), Charit\u00e9 University Medicine Berlin, Berlin, Germany."},{"name":"Max Delbr\u00dcck Center for Molecular Medicine, Berlin, Germany."},{"name":"Nephrology\/Intensive Care, Charit\u00e9 Campus Virchow-Klinikum, Charit\u00e9 University Medicine Berlin, Berlin, Germany."},{"name":"DT and MH contributed equally; BR and MG are equal senior authors."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2016,3,14]]},"reference":[{"key":"bibr1-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2012.286"},{"key":"bibr2-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfr771"},{"key":"bibr3-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1126\/science.1081068"},{"key":"bibr4-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M504004200"},{"key":"bibr5-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5002469"},{"key":"bibr6-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfn712"},{"key":"bibr7-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.4238\/2014.November.11.16"},{"key":"bibr8-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"bibr9-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"bibr10-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfn208"},{"key":"bibr11-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31816b5cae"},{"key":"bibr12-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.05260610"},{"key":"bibr13-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1101273"},{"key":"bibr14-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1038\/ng1918"},{"key":"bibr15-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1857"},{"key":"bibr16-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-012-0960-6"},{"key":"bibr17-CCRep.S30867","doi-asserted-by":"publisher","DOI":"10.1038\/ng.803"}],"container-title":["Clinical Medicine Insights: Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.4137\/CCRep.S30867","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.4137\/CCRep.S30867","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.4137\/CCRep.S30867","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T09:15:04Z","timestamp":1777454104000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.4137\/CCRep.S30867"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1]]},"references-count":17,"alternative-id":["10.4137\/CCRep.S30867"],"URL":"https:\/\/doi.org\/10.4137\/ccrep.s30867","relation":{},"ISSN":["1179-5476","1179-5476"],"issn-type":[{"value":"1179-5476","type":"print"},{"value":"1179-5476","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1]]},"article-number":"CCRep.S30867"}}