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Titel:

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Dokumenttyp:
Preprint
Autor(en):
Riedhammer, Korbinian M; Nguyen, Thanh-Minh T; Koşukcu, Can; Calzada-Wack, Julia; Li, Yong; Saygılı, Seha; Wimmers, Vera; Kim, Gwang-Jin; Chrysanthou, Marialena; Bakey, Zeineb; Kraiger, Markus; Sanz-Moreno, Adrián; Amarie, Oana V; Rathkolb, Birgit; Klein-Rodewald, Tanja; Garrett, Lillian; Hölter, Sabine M; Seisenberger, Claudia; Haug, Stefan; Marschall, Susan; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Wuttke, Matthias; de Angelis, Martin Hrabe; Ćomić, Jasmina; Doğan, Özlem Akgün; Ö...     »
Abstract:
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below 30 years of age. Many monogenic forms have been discovered mainly due to comprehensive genetic testing like exome sequencing (ES). However, disease-causing variants in known disease-associated genes still only explain a proportion of cases. Aim of this study was to unravel the underlying molecular mechanism of syndromic CAKUT in two multiplex families with presumed...     »
Zeitschriftentitel:
medRxiv
Jahr:
2023
Volltext / DOI:
doi:10.1101/2023.03.21.23287206
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36993625
TUM Einrichtung:
Professur für Nephrologie (Prof. Heemann)
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