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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

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HKD-lab@hkd-l.bsky.social · 2mo ago

We are very happy to share with you one of the two last preprints from the lab. Congratulations to Joran, Alice and Amandine as well as to all our collaborators! #kidney #cilia #ciliopathies www.biorxiv.org/content/10.6...

Developmental switch dichotomizes kidney response to Nphp3 inactivation and treatment outcome

Nephronophthisis (NPH) is n rare recessive kidney disease caused by biallelic variants in more than 25 NPHP genes encoding proteins that localize to primary cilia. It is characterized by three differe...

biorxiv.org

HKD-lab@hkd-l.bsky.social · 2mo ago

We are very happy to share with you one of the two last preprints from the lab. Congratulations to Joran and Amandine as well as to all their collaborators! #kidney #cilia #bacteria www.biorxiv.org/content/10.6...

A cilia-dependent inflammatory programme links bacterial detection to kidney disease

The primary cilium is a microtubule-based sensory organelle projecting from the plasma membrane of most mammalian cells. Genetic defects in ciliary components cause chronic kidney disease (CKD) charac...

biorxiv.org

club CFC@club-cfc.bsky.social · 5mo ago

Congratulations to Lucile Boutaud, Sophie Thomas and colleagues @institutimagine.bsky.social ! #cilia #ciliopathies onlinelibrary.wiley.com/doi/10.1111/...

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome.

onlinelibrary.wiley.com

HKD-lab@hkd-l.bsky.social · 8mo ago

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...

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...

cell.com

HKD-lab@hkd-l.bsky.social · last yr.

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...

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 ...

kireports.org

Hassan Saei@hassansaei.bsky.social · last yr.

🚨 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

bioRxiv Genetics@biorxiv-genetic.bsky.social · last yr.

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

Alexandre Benmerah@alexbnmrh.bsky.social · last yr.

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...

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

nature.com

Alessandra Boletta@bolettalab.bsky.social · last yr.

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

Hassan Saei@hassansaei.bsky.social · last yr.

🚨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

American Journal of Kidney Diseases@ajkd.bsky.social · last yr.

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique https://bit.ly/4glVIxd #ADTKD #CKD

HKD-lab@hkd-l.bsky.social · 2y ago

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

Alexandre Benmerah@alexbnmrh.bsky.social · 2y ago

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

HKD-lab@hkd-l.bsky.social · 2y ago

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...

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...

biorxiv.org

Alexandre Benmerah@alexbnmrh.bsky.social · 2y ago

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...

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...

biorxiv.org