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Defects of CRB2 cause steroid-resistant nephrotic syndrome

DC FieldValueLanguage
dc.contributor.author지헌영-
dc.date.accessioned2016-02-04T12:03:36Z-
dc.date.available2016-02-04T12:03:36Z-
dc.date.issued2015-
dc.identifier.issn0002-9297-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/141800-
dc.description.abstractNephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping and whole exome sequencing, we here identify recessive mutations in Crumbs homolog 2 (CRB2) in four different families affected by SRNS. Previously, we established a requirement for zebrafish crb2b, a conserved regulator of epithelial polarity, in podocyte morphogenesis. By characterization of a loss-of-function mutation in zebrafish crb2b, we now show that zebrafish crb2b is required for podocyte foot process arborization, slit diaphragm formation, and proper nephrin trafficking. Furthermore, by complementation experiments in zebrafish, we demonstrate that CRB2 mutations result in loss of function and therefore constitute causative mutations leading to NS in humans. These results implicate defects in podocyte apico-basal polarity in the pathogenesis of NS.-
dc.description.statementOfResponsibilityopen-
dc.format.extent153~161-
dc.relation.isPartOfAmerican Journal of Human Genetics-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleDefects of CRB2 cause steroid-resistant nephrotic syndrome-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pharmacology (약리학)-
dc.contributor.googleauthorLwaki Ebarasi-
dc.contributor.googleauthorShazia Ashraf-
dc.contributor.googleauthorArindam Majumdar-
dc.contributor.googleauthorFriedhelm Hildebrandt-
dc.contributor.googleauthorMoin A. Saleem-
dc.contributor.googleauthorShawn Levy-
dc.contributor.googleauthorErkin Serdaroglu-
dc.contributor.googleauthorIsmail Dursun-
dc.contributor.googleauthorMichael A. Simpson-
dc.contributor.googleauthorAnia Koziell-
dc.contributor.googleauthorHumphrey Fang-
dc.contributor.googleauthorVirginia Vega-Warner-
dc.contributor.googleauthorWerner Pabst-
dc.contributor.googleauthorCarolin E. Sadowski-
dc.contributor.googleauthorSvjetlana Lovric-
dc.contributor.googleauthorHugh J. McCarthy-
dc.contributor.googleauthorHeon Yung Gee-
dc.contributor.googleauthorAgnieszka Bierzynska-
dc.identifier.doi10.1016/j.ajhg.2014.11.014-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA03971-
dc.relation.journalcodeJ00086-
dc.contributor.alternativeNameGee, Heon Yung-
dc.contributor.affiliatedAuthorGee, Heon Yung-
dc.rights.accessRightsfree-
dc.citation.volume96-
dc.citation.number1-
dc.citation.startPage153-
dc.citation.endPage161-
dc.identifier.bibliographicCitationAmerican Journal of Human Genetics, Vol.96(1) : 153-161, 2015-
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실)

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