Congratulations to newly PhD'ed
@pieceofkate.bsky.social Dr. McCluskey!! She gave a fantastic thesis seminar to cap it off 👏🎓🐸✨

Finally, James measured the ciliary functional biomarker nasal nitric oxide in 11 individuals with KdVS and observed they had significantly lower values compared to a direct family member.

Next we translated this work to individuals with KdVS, documenting the prevalence of cilia-associated conditions like structural heart defects, structural respiratory defects, and hypogonadism via caregiver surveys in collaboration with Anna Pfalzer and COMBINEDBrain.

Loss of Kansl1 causes ciliogenesis phenotypes that can be partially rescued by human KANSL1.

Here we show that in Xenopus, Kansl1 is highly expressed in embryonic ciliated tissues and localizes to motile ciliary axonemes and basal bodies of the epidermis. This localization was seen both with an antibody we validated and by expressing GFP-tagged human KANSL1.

Check out our new ✨preprint✨ led by James Schmidt! Here we identified a new role for the gene KANSL1 in ciliary biology using Xenopus, with validations in patients with associated Koolen-de Vries Syndrome, which is characterized by hypersociability. www.biorxiv.org/content/10.1...