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Defects of CRB2 Cau...
Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome
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- Ebarasi, Lwaki (author)
- Karolinska Institutet,Uppsala universitet,Vaskulärbiologi
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Ashraf, Shazia (author)
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Bierzynska, Agnieszka (author)
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Gee, Heon Yung (author)
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McCarthy, Hugh J. (author)
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Lovric, Svjetlana (author)
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Sadowski, Carolin E. (author)
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Pabst, Werner (author)
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Vega-Warner, Virginia (author)
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Fang, Humphrey (author)
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Koziell, Ania (author)
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Simpson, Michael A. (author)
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Dursun, Ismail (author)
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Serdaroglu, Erkin (author)
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Levy, Shawn (author)
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Saleem, Moin A. (author)
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Hildebrandt, Friedhelm (author)
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- Majumdar, Arindam (author)
- Uppsala universitet,Vaskulärbiologi
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(creator_code:org_t)
- Elsevier BV, 2015
- 2015
- English.
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 96:1, s. 153-161
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http://www.cell.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- Nephrotic 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Ebarasi, Lwaki
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Ashraf, Shazia
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Bierzynska, Agni ...
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Gee, Heon Yung
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McCarthy, Hugh J ...
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Lovric, Svjetlan ...
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show more...
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Sadowski, Caroli ...
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Pabst, Werner
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Vega-Warner, Vir ...
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Fang, Humphrey
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Koziell, Ania
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Simpson, Michael ...
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Dursun, Ismail
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Serdaroglu, Erki ...
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Levy, Shawn
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Saleem, Moin A.
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Hildebrandt, Fri ...
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Majumdar, Arinda ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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American Journal ...
- By the university
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Uppsala University
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Karolinska Institutet