Analysis of the expression of direct targets of the canonical pathway, such as Cyclins, by quantitative PCR (q-PCR) showed a trend toward the reduction of Cyclin D1 ( CCND1) in NIPBL -mutated patients compared with healthy controls ( Figure 5a ).
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Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts.
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