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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Fig. 4

Genetic interaction of Marcal1 loss and gain with Notch pathway mutant alleles and model. a Representative wings of the mutant allele of interest (left column), the mutant allele in the Marcal1 loss-of-function background (middle column), and the mutant allele in the Marcal1 overexpression background (right column). Hairless (H), Delta (Dl), and Serrate (Ser) are dominant alleles on chromosome 3. Although both heterozygous males and females were assessed, representative wings from females are shown. The N nd-1 allele is a homozygous viable allele of Notch on chromosome 1. Although both homozygous females and hemizygous males were assessed, representative wings from hemizygous males are shown. b Representative eyes of the mutant allele N spl-1 (left), the mutant allele in the Marcal1 loss-of-function background (middle), and the mutant allele in the Marcal1 overexpression background (right). The N spl-1 allele is a homozygous viable allele of Notch on chromosome 1. Although both homozygous females and hemizygous males were assessed, representative eyes from hemizygous males are shown. c Model of renal disease pathogenesis in SIOD. Normal SMARCAL1 activity leads to regulated signaling of pathways and normal kidney development and function, whereas loss of SMARCAL1 activity leads to dysregulated Wnt and/or Notch signaling and in turn causes FSGS

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