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Title:

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

Document type:
Journal Article
Author(s):
Riedhammer, Korbinian M; Nguyen, Thanh-Minh T; Koşukcu, Can; Calzada-Wack, Julia; Li, Yong; Assia Batzir, Nurit; Saygılı, Seha; Wimmers, Vera; Kim, Gwang-Jin; Chrysanthou, Marialena; Bakey, Zeineb; Sofrin-Drucker, Efrat; Kraiger, Markus; Sanz-Moreno, Adrián; Amarie, Oana V; Rathkolb, Birgit; Klein-Rodewald, Tanja; Garrett, Lillian; Hölter, Sabine M; Seisenberger, Claudia; Haug, Stefan; Schlosser, Pascal; Marschall, Susan; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Wuttke, Matthias;...     »
Abstract:
Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below age 30 years. Many monogenic forms have been discovered due to comprehensive genetic testing like exome sequencing. However, disease-causing variants in known disease-associated genes only explain a proportion of cases. Here, we aim to unravel underlying molecular mechanisms of syndromic CAKUT in three unrelated multiplex families with presumed autosomal recessive inheritance....     »
Journal title abbreviation:
Kidney Int
Year:
2024
Journal volume:
105
Journal issue:
4
Pages contribution:
844-864
Fulltext / DOI:
doi:10.1016/j.kint.2023.11.032
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/38154558
Print-ISSN:
0085-2538
TUM Institution:
Professur für Nephrologie (Prof. Heemann)
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