Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1) Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a common monogenic kidney disease leading to kidney failure usually during mid adultho…

Congratulations to Lucie, Sophie, Laurence and collaborators @institutimagine.bsky.social, at Necker campus and elsewhere!
#kidney #ADTKD

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Commentary
JAG1 of all trades, master of CKD? The role of JAG1 in autosomal dominant tubulointerstitial kidney disease

doi.org/10.1016/j.kint.2025.11.006

Original article: doi.org/10.1016/j.kint.2025.08.033

#NephSky #MedSky #ADTKD #chronickidneydisease #CKD

Support by grants from Fondazione Telethon, the Italian Ministry of Health, and the Italian Ministry of University and Research (Investment PE8 –Project Age-It: “Ageing Well in an Ageing Society”, National Recovery and Resilience Plan).

#ADTKD #UMOD #calorierestriction #RareKidneyDisease

Review Gives Insight Into ADTKD | Docwire News A review described the clinical characteristics and subtypes of autosomal dominant tubulointerstitial kidney disease (ADTKD), a common monogenic cause of kidney failure.

What should clinicians know about ADTKD? A recent review details disease subtypes, genetic testing, and practical management considerations. #nephrology #ADTKD #nephsky #kidneydisease www.docwirenews.com/post/review-...

Title slide of the interADTKD Summit 2025 “the tume is now: uniting to halt ADTKD”

Here you will find a report on the scientific program of the 4th International #ADTKD Summit 2025. Top-scientists from different countries gave an comprehensive overview of the current state of research on this rare kidney disease. #MUC1 #UMOD #Biomarker
www.adtkd.de/en-gb/adtkd-...

Was gibt’s Neues bei der Autosomal Dominanten Tubulointerstitiellen Nierenerkrankung? Das steht in unserem ausführlichen Bericht zum hochkarätig besetzten Internationalen #ADTKD Summit. #MUC1 #UMOD #BRD4780 #VNtyper #GenetischeDiagnostik
www.adtkd.de/adtkd-summit...

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique

bit.ly/4glVIxd

#ADTKD #CKD

🚨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

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique

https://bit.ly/4glVIxd

#ADTKD #CKD

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique

https://bit.ly/4glVIxd

#ADTKD #CKD

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

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TED Talk 2023: Anna Greka über die seltene Nierenerkrankung ADTKD (Video)

Anna Greka über #ADTKD als Modellerkrankung - eine Therapie für viele Erkrankungen des gleichen Typs? #ALS #Alzheimer #Proteinopathie #RareDisease #CKD #Nierenerkrankung #Video
www.adtkd.de/ted-talks-an...