Helen Willsey

I can confirm the NIH is still working well enough to score my R01 terribly 😂🤪

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

Many autism-linked proteins influence hair-like cilia on human brain cells The finding may help explain autism’s association with multiple co-occurring conditions that involve cilia defects.

Appreciate this generous write up on our recent preprint!

www.thetransmitter.org/spectrum/hai...

My New Year’s resolution is to be kind… of a bitch.

Check out our new preprint led by @elinakosty.bsky.social identifying convergence of autism proteins at the cilium (including chromatin regulators and synaptic proteins)! Makes us realize the deep similarity between neuronal synapses and cilia. Power of 🐸 for discovery

It's #FluorescenceFriday again!

Some more #Xenopus... This time a #gastruloid formed by treating an explant of blastula presumptive ectoderm cells with Activin.

Nuclei labelled with H2B-mCherry with colour indicating size.

Yep! Green are neurons, red is actin, blue DAPI

A homozygous human WNT11 loss-of-function variant associated with laterality, heart and renal defects Wnt signaling plays important roles during vertebrate development, including left-right axis specification as well as heart and kidney organogenesis. We identified a homozygous human WNT11 variant in ...

Another preprint from the lab and a collaboration with Miriam Schmidts and her lab from Uniklinik_Fr pediatrics. This work was carried out mostly by fantastic MD MOTIVATE student Henrike Berns. Funded by @dfgpublic.bsky.social @cibss.bsky.social and SFB1453_NephGen.
www.biorxiv.org/content/10.1...

Hello science peeps
A quick introduction to Miller lab shenanigans 🐸😄 @umichlawlib.bsky.social
We are very demure, very mindful labmates 🧪 🥼
#Scienceisfun

We are excited to continue working on KANSL1 for the foreseeable future and to think more broadly about the role of cilia in sociability. Thanks to our co-authors and funders including the KdVS Foundation and CZ Biohub.

This work establishes that KANSL1 functions at cilia and that this function contributes to the clinical symptomatology of KdVS. Yet again, we find that a gene associated with social behavior functions at cilia.

Perhaps this non-invasive 30 second test (used to diagnose the ciliopathy Primary Ciliary Dyskinesia) could be more broadly used for identifying additional unrecognized genetic ciliopathies.

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.

Since microtubule dynamics are so essential for cilia form and function, and because folks with KdVS have many clinical symptoms associated with ciliopathies (structural heart defects etc), we hypothesized that KANSL1 functions at the cilium.

KANSL1 is best known as a chromatin regulator, but ALSO directly stabilizes microtubules at the mitotic spindle (yet another one of these “dual function” chromatin regulators).

Koolen-de Vries Syndrome - Our very favorite syndrome! YouTube video by Koolen-de Vries Syndrome Foundation

While my lab to this point has been studying genes associated with atypical sociability (namely autism), we got interested in this gene because folks with variants in KANSL1 are atypically hypersociable. Watch them here: www.youtube.com/watch?v=6mqY...

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...

Can you add me? Thanks!

okay has anybody made one of these for #cilia peeps yet?? go.bsky.app/ELfYqxw please find & add more names below...

XenBase frog on a green and purple swirled background resembling watered silk. Text in white reads "Please take our survey! Your feedback is important. Help us to better help you". The image includes a QR code to the Xenbase user survey.

Xenopus researchers (and only Xenopus researchers!)
Open now! Xenbase.org wants to hear from you about how you use Xenbase and what they can do to make Xenbase even better. Just click forms.gle/5WFANQTKA6TuSyg67 to take the survey! #science #biology #devbio #xenopus #frogs
@xenbase.bsky.social

Let's kick things off with live imaging of Xenopus deep layer blastocoel roof cells imaged using Airyscan 2.

Hello world! We’re here to spread the love of our favorite model organism Xenopus. Give us a follow for your daily moment of Xen(opus)!

Foxi1 regulates multiple steps of mucociliary development and ionocyte specification through transcriptional and epigenetic mechanisms Foxi1 is a master regulator of ionocytes (ISCs / INCs) across species and organs. Two subtypes of ISCs exist, and both α- and β-ISCs regulate pH- and ion-homeostasis in epithelia. Gain and loss of FOX...

New preprint from the lab 🙌 @biorxiv. We found new foxi1 functions in multipotent mucociliary progenitors in #xenopus. 🐸

www.biorxiv.org/content/10.1...

Congrats to 3 first authors Sarah Bowden, Magdalena Brislinger-Engelhardt, Mona Hansen & team!

Fu dwd by
CIBSS
SFB1453_NephGen
dfg

Add me please!