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Henrike E Berns on Muck Rack

Henrike E Berns

As seen in: BioRxiv
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Articles

A homozygous human WNT11 loss-of-function variant associated with laterality, heart and renal defects

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By Henrike E Berns, Maximilian Haas, Zeineb Bakey, Magdalena M Brislinger-Engelhardt
| BioRxiv
Abstract Wnt signaling plays important roles during vertebrate development, including left-right axis specification as well as heart and kidney organogenesis. We identified a homozygous human WNT11 variant in an infant with Situs inversus totalis, complex heart defects and renal hypodysplasia, and we used Xenopus embryos to functionally characterize this variant. WNT11c.814delG encodes a loss-of-function protein with reduced stability that lost signaling activity in vivo.
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