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Jonathan Marquez

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Articles

Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease

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By Jonathan Marquez, Jonathan Segura Márquez, Lauren Hawkins, Anita E. Beck, Katrina M. Dipple, Ian Glass, Alexandra C. Keefe, Elizabeth Nguyen
| Frontiers
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.
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Polyamine Metabolism is Dysregulated in COXFA4 Related Mitochondrial Disease

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By Jonathan Marquez, Jonathan Segura Márquez, Stephen L. Viviano, Erika Beckman, Joshua Friedland-Little, Jenny Thies, Christina T. Lam, Engin Deniz, Emily Shelkowitz
| Cell Press Verified
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;...
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The dishevelled associated activator of morphogenesis protein 2 (Daam2) regulates neural tube closure

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By Baihao Su, Jonathan Marquez, Mustafa K. Khokha, Kaushik Nama
| Wiley Online Library Verified
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.
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