Article
Alteration in DNA-binding affinity of Wilms tumor 1 protein due to WT1 genetic variants associated with steroid - resistant nephrotic syndrome in children.
Scientific reports - 24 May 2022
Bezdicka Martin, Kaufman Filip, Krizova Ivana, Dostalkova Alzbeta, Rumlova Michaela, Seeman Tomas, Vondrak Karel, Fencl Filip, Zieg Jakub, Soucek Ondrej
Abstract excerpt
Approximately one third of children with steroid-resistant nephrotic syndrome (SRNS) carry pathogenic variants in one of the many associated genes. The WT1 gene coding for the WT1 transcription factor is among the most frequently affected genes. Cases from the Czech national SRNS database were sequenced for exons 8 and 9 of the WT1 gene. Eight distinct exonic WT1 variants in nine children were found. Three...
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