Investigation of #masseter #muscle in #microphthalmia mice (with Mitf mutation and masticatory dysfunction) shows increased myocyte #apoptosis and #fibrosis, reduced masseter muscle mass and low expression of #microRNAs needed for #skeletal muscle development
doi.org/10.14814/phy...
Great start of the week with a day full of talks at the UK EGG meeting 2025!
Our PhD student Karthikah Jaganathan also presented a case with a mosaic RASopathy and #microphthalmia 🧩👁️
Well done Dr Pippa Harding, my PhD student @ucleye.bsky.social who grew eye cups from a patient with a missense variant in the #PAX6 paired domain causing #microphthalmia & a typical #aniridia patient. SOX2 and Notch pathways were dysregulated. Disease insights: www.sciencedirect.com/science/arti...
Want to read/learn more about ocular #coloboma, #microphthalmia and #anophthalmia, then please visit Gene Vision, an amazing knowledge-sharing resource for patients & professionals: An A-Z of #GeneticEyeDisease #GeneVision gene.vision?s=Ocular+col...
