Common variant approaches to study Mendelian disease gene function identify novel phenome and pathways associated with PLOD3
Alexandra Scalici, James T. Baker, Freida Blostein…·Nancy Jean Cox
Author
Vanderbilt UniversityORCID 0000-0002-2977-3619Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Alexandra Scalici, James T. Baker, Freida Blostein…·Nancy Jean Cox
James B. Hayes, Dharmendra Choudhary, Dylan Ritter…·Dylan Tyler Burnette
This study identifies ACTN4 as a non-muscle α-actinin in cardiac sarcomeres, showing it regulates contractility, hypertrophy, and heart remodeling without disease hallmarks.
Tetsuya Hirata, Dharmendra Choudhary, Brittany J. Bisnett…·Michael Boyce
The paper shows that O-GlcNAcylation of Sec24D regulates collagen trafficking by modulating its interactome and interaction with myoferlin in human cells and zebrafish.
Jenaid M. Rees, Katie Kirk, Giacomo Gattoni…·J. Andrew Gillis
The paper traces the embryonic origin of calcitonin-producing cells across vertebrates and finds they derive from pharyngeal endoderm, not neural crest, and identifies homologues in invertebrate chordates.
Daniel S. Levic, Gökhan Ünlü, David B. Melville, Ela W. Knapik
This study identifies Erc1b as a genetic factor for craniofacial syndromes by showing its role in regulating ECM trafficking and chondrocyte growth in zebrafish.