Jonathan Marquez

CASE REPORT article Volume 13 - 2025 | https://doi.org/10.3389/fped.2025.1677417 Introduction Autosomal recessive polycystic kidney disease (ARPKD) is a rare condition that arises due to biallelic pathogenic variants in a small subset of genes, the most common of which is PKHD1. PKHD1 encodes the fibrocystin protein that participates in the development of kidney and liver tubular structures.

ArticleOnline now100418Open access 1Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA 2Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA 3Pediatric Genomics Discovery Program, Yale School of Medicine, New Haven, CT, USA 4Division of Cardiology, Department of Pediatrics, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA Publication History: Received December 6, 2024;...

Background The Wnt signaling pathway is highly conserved in metazoans and regulates a large array of cellular processes including motility, polarity and fate determination, and stem cell homeostasis. Modulation of the actin cytoskeleton via the non-canonical Wnt pathway regulate cell polarity and cell migration that are required for proper vertebrate gastrulation and subsequent neurulation.