HKD-lab
@hkd-l.bsky.social
The Hereditary Kidney Diseases Lab from @institutimagine.bsky.social focuses on kidney disorders affecting either the glomerulus (FSGS) or the tubule (ciliopathies).
#kidney #cilia #ciliopathies #glomerulus #podocyte
#kidney #cilia #ciliopathies #glomerulus #podocyte
Two good news today... This work was led by Friederike Petzold in the lab, congrats to all the coauthors!
#kidney #ciliopathies #nephronophthisis
journals.lww.com/cjasn/abstra...
#kidney #ciliopathies #nephronophthisis
journals.lww.com/cjasn/abstra...
journals.lww.com
December 4, 2025 at 5:22 PM
Two good news today... This work was led by Friederike Petzold in the lab, congrats to all the coauthors!
#kidney #ciliopathies #nephronophthisis
journals.lww.com/cjasn/abstra...
#kidney #ciliopathies #nephronophthisis
journals.lww.com/cjasn/abstra...
Our last review is out today!
It was a fantastic team effort with my friends in Copenhagen, especially Søren Christensen @sorentc.bsky.social and Lars Allan Larsen. A very special thank you to Oskar for his excellent work on the final version! #cilia #microcephaly
www.cell.com/developmenta...
It was a fantastic team effort with my friends in Copenhagen, especially Søren Christensen @sorentc.bsky.social and Lars Allan Larsen. A very special thank you to Oskar for his excellent work on the final version! #cilia #microcephaly
www.cell.com/developmenta...
Primary cilia as architects of the neocortex: Roles in brain development, function, and microcephaly
In this perspective article, Thomsen et al. discuss how primary cilia coordinate neocortical
development, function, and regeneration. They highlight emerging links between ciliary
control of neural pr...
www.cell.com
December 4, 2025 at 4:07 PM
Our last review is out today!
It was a fantastic team effort with my friends in Copenhagen, especially Søren Christensen @sorentc.bsky.social and Lars Allan Larsen. A very special thank you to Oskar for his excellent work on the final version! #cilia #microcephaly
www.cell.com/developmenta...
It was a fantastic team effort with my friends in Copenhagen, especially Søren Christensen @sorentc.bsky.social and Lars Allan Larsen. A very special thank you to Oskar for his excellent work on the final version! #cilia #microcephaly
www.cell.com/developmenta...
Reposted by 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...
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...
September 4, 2025 at 8:27 AM
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...
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...
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...
#ciliopathies #kidney #nephronophthisis
www.kireports.org/article/S246...
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 ...
www.kireports.org
June 27, 2025 at 9:50 AM
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...
#ciliopathies #kidney #nephronophthisis
www.kireports.org/article/S246...
Reposted by HKD-lab
🚨 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
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
Therapeutic splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of X-linked Alport syndrome https://www.biorxiv.org/content/10.1101/2025.06.10.658776v1
June 16, 2025 at 8:22 PM
🚨 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
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
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...
www.sciencedirect.com/science/arti...
IL1β is induced in nephronophthisis but does not mediate kidney damage
www.sciencedirect.com
May 15, 2025 at 7:18 AM
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...
www.sciencedirect.com/science/arti...
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...
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 …
www.sciencedirect.com
May 7, 2025 at 12:52 PM
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...
www.sciencedirect.com/science/arti...
Reposted by HKD-lab
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
www.cilia-ai.eu
Cilia-AI
www.cilia-ai.eu
April 17, 2025 at 4:40 PM
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
www.cilia-ai.eu
Reposted by HKD-lab
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...
www.nature.com/articles/s41...
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
www.nature.com
March 15, 2025 at 8:12 AM
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...
www.nature.com/articles/s41...
Reposted by HKD-lab
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!
The longest straight cilium ever and two interacting ones!
March 5, 2025 at 7:17 AM
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!
The longest straight cilium ever and two interacting ones!
Reposted by HKD-lab
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.
Other examples of scanning #electronmicroscopy of triton-treated IMCD3 #kidney cells with @bastinlab.bsky.social - see also previous post.
March 1, 2025 at 10:32 AM
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.
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
Two positions available in our lab!
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...
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...
February 25, 2025 at 2:40 PM
Two PhD positions in our lab for two different projects on #ciliopathies and #cilia
Reposted by HKD-lab
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.
February 18, 2025 at 3:35 PM
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.
Reposted by HKD-lab
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/
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 ...
pubmed.ncbi.nlm.nih.gov
February 11, 2025 at 1:56 PM
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/
Reposted by HKD-lab
🚨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
Using VNtyper, we identified de novo cases and ADTKD was not initially suspected in ~40% of positive cases in our cohort.
#ADTKD #MUC1 #VNtyper
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique
https://bit.ly/4glVIxd
#ADTKD #CKD
https://bit.ly/4glVIxd
#ADTKD #CKD
February 6, 2025 at 9:49 PM
Next meeting of the French #cilia and #ciliopathies network!
First announcement for the next CFC meeting which will be organized by Séverine Bär, Sylvie Friant and Hélène Dollfus with colleagues from the #cilia and #centrosome workgroup of the German Society for Cell Biology. It will take place from October 13th to 15th 2025 in Oberbronn near Strasbourg.
January 28, 2025 at 11:25 AM
Next meeting of the French #cilia and #ciliopathies network!
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...
Special congratulations to Jessica and @hassansaei.bsky.social as well as to all collaborators!
#kidney #ADTKD #MUC1
www.sciencedirect.com/science/arti...
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…
www.sciencedirect.com
January 24, 2025 at 9:23 AM
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...
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!
Congratulations to Joran from our lab for his great presentation!
I was very happy to welcome the first 2025 meeting of the French #cilia network @institutimagine.bsky.social!
It was a great afternoon, thanks again to all the speakers and Amandine @hkd-l.bsky.social for her help! See you in Strasbourg in October for the next one!
#ciliopathies #flagella
It was a great afternoon, thanks again to all the speakers and Amandine @hkd-l.bsky.social for her help! See you in Strasbourg in October for the next one!
#ciliopathies #flagella
January 23, 2025 at 8:38 AM
It was a very stimulating scientific afternoon yesterday @institutimagine.bsky.social !
Congratulations to Joran from our lab for his great presentation!
Congratulations to Joran from our lab for his great presentation!
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...
#kidney #cilia #ciliopathies
www.biorxiv.org/content/10.1...
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...
www.biorxiv.org
January 20, 2025 at 10:45 AM
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...
#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...
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...
January 17, 2025 at 9:18 AM
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...
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...
Reposted by HKD-lab
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
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
Cilia-AI
www.cilia-ai.eu
January 13, 2025 at 1:35 PM
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
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
Reposted by HKD-lab
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...
Thanks to all collaborators, platforms of the Necker/Imagine campus and patient families.
www.biorxiv.org/content/10.1...
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...
www.biorxiv.org
January 16, 2025 at 8:03 AM
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...
Thanks to all collaborators, platforms of the Necker/Imagine campus and patient families.
www.biorxiv.org/content/10.1...