SFB 1453 NephGen
@sfb1453.bsky.social
NephGen brings together scientists who use genetic evidence and innovative transdisciplinary approaches to prevent and treat kidney diseases.
Revealing lysine-specific histone demethylase 1a as a new target for kidney diseases Tobias B. Huber & team show LSD1 regulates kidney development, and its dysfunction disrupts key kidney cells, leading to cyst formation in mouse and organoid models: doi.org/10.1172/jci....
Together with four other Freiburg CRCs, @sfb1453.bsky.social joined the @friasunifreiburg.bsky.social workshop to discuss "What it takes to build and lead successful interdisciplinary research initiatives" If you want to know more check out the great summary by our CRC 1597 colleagues t1p.de/wlkqd
Happy to share our paper in the frame of the @sfb1453.bsky.social project that got published in @jmolbiol.bsky.social Tremendous work from @emymrikov.bsky.social and others, on how the scaffold protein PDZK1 interacts with the urate transporter URAT1. ⬇️ www.sciencedirect.com/science/arti...
Molecular Determinants of Selective and High-affinity Binding of the Scaffold Protein PDZK1 to the Urate Transporter URAT1
The renal solute carrier URAT1 (SLC22A12) is essential for urate homeostasis, with loss-of-function linked to renal hypouricemia, nephrolithiasis and …
sciencedirect.com
Good start for 2026: Our work on mucociliary progenitors and how FOXI1 regulates them as well as ionocyte specification is now out and open access. tinyurl.com/Bowden-Engel... Congrats to all authors and thanks to @dfg.de @cibss.bsky.social @sfb1453.bsky.social @for5547.bsky.social for support!
Foxi1 regulates multipotent mucociliary progenitors and ionocyte specification through transcriptional and epigenetic mechanisms
The transcription factor Foxi1 regulates ionocytes across species and organs and it is associated with several human diseases, but its function in epidermis remains unclear. This study shows that low ...
tinyurl.com
Congratulations to NephGen PIs Melanie Börries and Sven Diederichs and their groups on their practise changing publication in @natgenet.nature.com 👏👏 #MedSky #OncoSky rdcu.be/eUbf3
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations
Nature Genetics - Saturation mutagenesis screening examines 11,520 point mutations in the kinase domains of FGFR1, FGFR2, FGFR3 and FGFR4, identifying their activating and resistance properties to...
rdcu.be
NephGen speaker Anna Köttgen attendend the first ERA Science Meeting in November to further improve precision medicine in genetic kidney diseases #NephSky #MedSky See link for more details 👇 www.linkedin.com/posts/europe...
✨ On November 27–28, the first ERA Science Meeting took place in Barcelona, Spain 🧬 This exclusive, invitation-only event brought together leading experts to shape a roadmap for implementing… | Euro...
✨ On November 27–28, the first ERA Science Meeting took place in Barcelona, Spain 🧬 This exclusive, invitation-only event brought together leading experts to shape a roadmap for implementing precisi...
linkedin.com
A new exciting and highly collaborative @sfb1453.bsky.social paper by NephGen groups Börries, Schell, and Kühn in @pnas.org Inhibition of the inflammasome ameliorates orthologous polycystic kidney disease | PNAS www.pnas.org/doi/10.1073/...
Inhibition of the inflammasome ameliorates orthologous polycystic kidney disease | PNAS
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease. Limited treatment options lead to renal failure in ...
pnas.org
Pascal Schlosser and Matthias Wuttke, our @sfb1453.bsky.social representation and speakers at this year's #kidneywk
Congratulations to @sfb1453.bsky.social PI Tobias Hermle and his team for their groundbreaking work on slit diaphragm architecture. Go check it out 👇 rdcu.be/eOzXF
The slit diaphragm in Drosophila exhibits a bilayered, fishnet architecture
Nature Communications - The slit diaphragm is a key component of the glomerular filter. This study reveals that the slit diaphragm of Drosophila nephrocytes exhibits a fishnet architecture,...
rdcu.be
Our study on the genetic determinants of kidney structure is available online in Kidney International as a pre-proof! We used a CNN to derive kidney sub-volumes from MRIs and performed a GWAS to uncover their genetic determinants. Thanks to all involved! #CKD #Imaging #DeepLearning #GWAS
Kidney International@kidneyint.bsky.social · 11mo agoGenetic screens of imaging-derived kidney volumes identify genes linked to kidney function doi.org/10.1016/j.kint.2025.08.0 #OpenAccess #MedSky #NephSky #kidneydisease #GWAS @uniklinik-fr.bsky.social @columbiakidney.bsky.social @columbiauniversity.bsky.social @kirylukk.bsky.social
A massive shoutout to our @sfb1453.bsky.social colleague Nora Scherer from Anna Köttgen's group for receiving the @dgfn.bsky.social Rainer-Greger-Award for her outstanding dissertation! Congratulations and so well deserved!!! 🎉👏
We are delighted that our external advisory board member @ksusztak.bsky.social will be receiving this year’s Homer Smith Award at Kidney Week 2025. www.kidneynews.org/view/journal... Congratulations Katalin, so well deserved! 👏👏💐
kidneynews.org
Brilliant presentations by our NephGen PIs Anna Köttgen, Ulla Schultheiss, Michael Köttgen and Sven Diederichs in the @sfb1453.bsky.social session at this year's Annual Meeting of the @dgfn.bsky.social #Nephrologie #dgfn
Association of Serum Afamin Concentrations With Kidney Failure in Patients With CKD: Findings From the German CKD Cohort Study bit.ly/4fWGYES #OpenAccess #VisualAbstract
Super cool project! Maybe it's time for a NephGen comic? 🤔
Caroline Hu@hudrewthis.bsky.social · last yr.Seeking scientist volunteers for this fall! Want to practice science communication and help author a 🌟comic🌟 about your research? I need collaborators for the next cohort of SciComm & Comics art and design students. All countries and scientific fields eligible.
Huge congratulations to Dr. Magdalena Brislinger-Engelhardt for defending her PhD thesis today 👏👏👏🥳🥳🥳
Registration for this year’s EUKISS summer school in Freiburg, Germany, is now open! Join us in July for two days of discussions around the basis of kidney functions and their relevance for kidney disease! Registration & program ➡️ www.eukiss.org
🧬 Looking forward to presenting at the #ESHG2025! Our GWAS & EWAS studies of 10,000+ individuals reveal how genetics & epigenetics regulate trace element metabolism. Visit our poster P18.057.D today at 4pm! Huge thanks to @sfb1453.bsky.social, @zkutalik.bsky.social, and all collaborators involved!
Congratulations to the CIBSS team for this outstanding achievement! So well deserved!!! 🎉👏👏
CIBSS – Centre for Integrative Biological Signalling Studies@cibss.bsky.social · last yr.We are thrilled to have just found out: CIBSS has secured continued funding under the #ExcellenceStrategy! This major boost will enable us to accelerate our research into biological signalling and lay the groundwork for next-generation insights from 2026 to 2032!
Wondering whether you should read the great kidney disease genetic scorecard paper by @hongbo919.bsky.social @ksusztak.bsky.social on 2.2Mio people? Here 👇 rdcu.be/eejuB Matthias Wuttke at @sfb1453.bsky.social and I report some highlights for you (and recommend reading the original work) #nephgen
GWAS scorecard prioritizes kidney genes using coding and regulatory variants
Nature Reviews Nephrology - Based on genome-wide association study data from 2.2 million individuals, a functional prioritization scorecard integrates classical omics with allele-specific gene...
rdcu.be
Katalin Susztak@ksusztak.bsky.social · 2y ago🎇Our new paper in @ScienceMagazine : Kidney Multiome-Based Genetic Scorecard Reveals Convergent Coding and Regulatory Variants. @Hongbo919Liu science.org/doi/10.1126/...
🚨2 fully funded postdoc positions for 6 years 🚨 Are you interested in gene regulation, cardiovascular diseases or aging? Join our team in beautiful Graz, Austria! Postdoc in Bioinformatics 🖥️ tinyurl.com/3ufv767b Postdoc in functional genomics and models (e.g. organoids) 🧪 tinyurl.com/4ucahvzn
Freiburger Forschende zeigen, wie seltene „Nonstop-Mutationen“ die Proteinbildung stören und die Entstehung von #Nierenkrebs fördern können. Erkenntnisse bieten Potenzial für bessere Diagnosen und Therapien. Link zur Studie: t1p.de/ytfs3 #Medizin #Forschung
This study challenges the idea that KDM5D in male cells functions equivalently to the second KDM5C allele in female cells, implicating an interplay between KDM5C mutation and Y chromosome loss in ccRCC development in men. @sfb1453.bsky.social www.nature.com/articles/s42...
KDM5C and KDM5D mutations have different consequences in clear cell renal cell carcinoma cells - Communications Biology
This study challenges the idea that KDM5D in male cells functions equivalently to the second KDM5C allele in female cells and implicates an interplay between KDM5C mutation and Y chromosome loss in cc...
nature.com
Congratulations to @sfb1453.bsky.social PIs Athina Ganner, Elke Neumann-Haefelin, Ian Frew, and Sven Diedierichs and their teams! 👏👏👏 Nonstop mutations cause loss of renal tumor suppressor proteins VHL and BAP1 and affect multiple stages of protein translation www.science.org/doi/10.1126/...
Nonstop mutations cause loss of renal tumor suppressor proteins VHL and BAP1 and affect multiple stages of protein translation
Extending a protein at its end affects its stability, but also its translation efficiency and even selection of its start.
science.org
