HKD-lab

Open call for applications for the International PhD PPU-IMAGINE program!

Don’t miss out on 16 different PhD research projects at Institut Imagine!

Deadline: October 20, 2025

For more information: www.institutimagine.org/en/internati...

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease Nephronophthisis (NPH) is a renal ciliopathy characterized by chronic tubulointerstitial fibrosis. Despite discovery of multiple disease genes, mechanisms of NPH-associated kidney degeneration remain ...

New interesting paper on MAPKBP1, which sheds new light on its localization and function at #cilia! Many thanks to Ria and Jan for inviting us to participate in this exciting work! Congratulations to all collaborators!
#ciliopathies #kidney #nephronophthisis

www.kireports.org/article/S246...

🚨 Our new preprint is out!
We developed kidney organoid models of X-linked Alport syndrome carrying deep-intronic variants. Through in-depth characterization, we demonstrate their potential as a robust platform for individualized splice-switching therapy development. #Alport #ASO
@hkd-l.bsky.social

IL1β is induced in nephronophthisis but does not mediate kidney damage

Congratulations to Giulia and Amandine, to other members of the lab and collaborators! Their last paper on IL1-beta in Nephronophthisis is now out in Genes & diseases. #ciliopathies #kidney #inflammation

www.sciencedirect.com/science/arti...

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis Primary cilia are sensory antennas that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development …

Our last paper is now available on the Kidney International website! Thanks to all collaborators and special congrats to Alice and Guillaume... #cilia #ciliopathies #kidney

www.sciencedirect.com/science/arti...

Cilia-AI

9 PhD positions to work on #cilia and #ciliopathies including 2 in our lab @hkd-l.bsky.social @institutimagine.bsky.social

www.cilia-ai.eu

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis - European Journal of Human Genetics European Journal of Human Genetics - Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis

Here is a recent paper by colleagues from @hopitalnecker.bsky.social and @institutimagine.bsky.social showing that loss of IFT27 lead to fetal #ciliopathies with #cilia defects in #kidney

www.nature.com/articles/s41...

Last from the archives, scanning #electronmicroscopy pictures of #cilia in #kidney IMCD3 cells (no triton) by Rania and Thierry from @bastinlab.bsky.social.
The longest straight cilium ever and two interacting ones!

Explicit content… demembraned n.k.d #cilia !!!
Other examples of scanning #electronmicroscopy of triton-treated IMCD3 #kidney cells with @bastinlab.bsky.social - see also previous post.

Two PhD positions in our lab for two different projects on #ciliopathies and #cilia

Welcome to the PKD Foundation’s Bluesky! We’re proud to be the only organization in the U.S. solely dedicated to finding treatments and a cure for polycystic kidney disease (PKD). Learn more about our organization at pkdcure.org.

Not just you Bernhard ;) ... Cheers, Alex

A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months - PubMed Autosomal recessive polycystic kidney disease (ARPKD) is a severe hepatorenal fibrocystic disorder. Its rareness and the variability of disease courses have been major obstacles for the establishment ...

Congratulations to Max Liebau 👏 and colleagues for a breakthrough study defining a risk score to predict kidney survival in ARPKD patients 👏 pubmed.ncbi.nlm.nih.gov/39922379/

🚨Check out our latest paper in AJKD! We highlighted the importance of unbiased and large-scale genetic testing in ADTKD-MUC1.

Using VNtyper, we identified de novo cases and ADTKD was not initially suspected in ~40% of positive cases in our cohort.

#ADTKD #MUC1 #VNtyper

Next meeting of the French #cilia and #ciliopathies network!

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since v…

Last publication from the HKD-lab...
Special congratulations to Jessica and @hassansaei.bsky.social as well as to all collaborators!
#kidney #ADTKD #MUC1

www.sciencedirect.com/science/arti...

It was a very stimulating scientific afternoon yesterday @institutimagine.bsky.social !
Congratulations to Joran from our lab for his great presentation!

Evaluation of Prostaglandin Receptor Agonists and Eupatilin in the Context of Nephronophthisis Background Primary cilia are sensory antennas that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development and in response to environmental stimul...

The new preprint from the lab is now available on #biorxiv! It was a team effort led by @alexbnmrh.bsky.social and Alice Tata and funded by #ANR (RHU C'IL-LICO) and European commission (SCILS, TheRaCil) @institutimagine.bsky.social
#kidney #cilia #ciliopathies

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

We are hiring!
As part of the EU-funded Marie Skłodowska-Curie Action training network "Cilia-AI" we have two fully funded PhD positions available in our group in Paris @institutimagine.bsky.social

For more information:
www.cilia-ai.eu
www.institutimagine.org/en/sophie-sa...

Cilia-AI

14 PhD Positions in the Cilia-AI Consortium!

Cilia-AI is a European training rogramme for deconvolution of multi-scale cilia function in health and disease by integrating machine learning-AI approaches.

www.cilia-ai.eu

Evaluation of Prostaglandin Receptor Agonists and Eupatilin in the Context of Nephronophthisis Background: Primary cilia are sensory antennas that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development and in response to environmental stimu...

Hello everyone, our last work is now available on #biorxiv !
Thanks to all collaborators, platforms of the Necker/Imagine campus and patient families.

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