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Titel:

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

Dokumenttyp:
Journal Article
Autor(en):
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....     »
Zeitschriftentitel:
Kidney Int
Jahr:
2024
Band / Volume:
105
Heft / Issue:
4
Seitenangaben Beitrag:
844-864
Volltext / DOI:
doi:10.1016/j.kint.2023.11.032
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/38154558
Print-ISSN:
0085-2538
TUM Einrichtung:
Professur für Nephrologie (Prof. Heemann)
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