The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa
November 2022
in “
Journal of Investigative Dermatology
”
Studysummary This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
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The document discusses a study on neutrophil recruitment after cutaneous injury in zebrafish. The researchers used a Tg(lyz:DsRed2)nz50 transgenic casper mutant zebrafish with skin stained in BODIPY and neutrophils in orange (lyz:dsRed) to observe the response 0.5 – 17.25 hours post injury. The study found a mass influx of neutrophils during this time, indicating that neutrophils respond quickly to cutaneous injury. The research was conducted by Leah Greenspan PhD, Keith Ameyaw, Daniel Castranova, Caleb Mertus, and Brant Weinstein PhD from the Division of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health.
