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Document type:
Article; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Author(s):
Schneider, Ronen; Deutsch, Konstantin; Hoeprich, Gregory J; Marquez, Jonathan; Hermle, Tobias; Braun, Daniela A; Seltzsam, Steve; Kitzler, Thomas M; Mao, Youying; Buerger, Florian; Majmundar, Amar J; Onuchic-Whitford, Ana C; Kolvenbach, Caroline M; Schierbaum, Luca; Schneider, Sophia; Halawi, Abdul A; Nakayama, Makiko; Mann, Nina; Connaughton, Dervla M; Klämbt, Verena; Wagner, Matias; Riedhammer, Korbinian M; Renders, Lutz; Katsura, Yoshichika; Thumkeo, Dean; Soliman, Neveen A; Mane, Shrikant; L...     »
Title:
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Abstract:
The discovery of >60 monogenic causes of nephrotic syndrome (NS) has revealed a central role for the actin regulators RhoA/Rac1/Cdc42 and their effectors, including the formin INF2. By whole-exome sequencing (WES), we here discovered bi-allelic variants in the formin DAAM2 in four unrelated families with steroid-resistant NS. We show that DAAM2 localizes to the cytoplasm in podocytes and in kidney sections. Further, the variants impair DAAM2-dependent actin remodeling processes: wild-type DAAM2...     »
Journal title abbreviation:
Am J Hum Genet
Year:
2020
Journal volume:
107
Journal issue:
6
Pages contribution:
1113-1128
Fulltext / DOI:
doi:10.1016/j.ajhg.2020.11.008
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/33232676
Print-ISSN:
0002-9297
TUM Institution:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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