Reversade Lab

📢New today! 📰CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans 🧑‍🤝‍🧑@reversadelab & colleagues cell.com/ajhg/abstract/…

Excellent conference today at #SingaporeFishMeeting2023! And congratulations to Amirah for her poster prize!

Online! A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. #progeroid_syndrome By A. Mayer, B. Reversade & colleagues @ReversadeLab @mayer_lab 🗞️#openaccess: doi.org/10.15252/emmm.…

A great joint work with @mayer_lab, Reversade lab members, clinicians and collaborators!

Our latest work! We identify an intronic variant in TAPT1 that causes exon skipping followed by NMD in a recessive Osteogenesis Imperfecta & progeroid syndrome -by examining nascent transcription versus normal RNA-seq- leading to ECM pathway disruption. embopress.org/doi/full/10.15…

Handmade time-lapse of zebrafish development. Credit to @andro_pantru. #ZebrafishZunday

A great lab Christmas lunch! 🎄

Congratulations Franklin Zhong!! @NTUsg

"In the present manuscript, Wong et al describe for the first time the human phenotype resulting from the bi-allelic germline T543M mutation in the RAF1 proto-oncogene. " Rev #1

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing medrxiv.org/cgi/content/sh… #medRxiv

New work from @Wagnerlab_RNA and @ReversadeLab just out in @NatureComms 👇 Mutations in INTS13 cause a ciliopathy and disrupt Integrator module interactions; the findings underscore the importance of Integrator to human development urmc.info/y2 #URochesterResearch

My thesis work is out now in Nature Communications! The #IntegratorComplex is destabilized by rare mutations in INTS13. This change in Integrator function leads to upregulation of a set of ciliary genes, causing a #ciliopathy in 4 individuals nature.com/articles/s4146…

Huge congrats to @UMCDB PhD student @ReneeConway and team (@joshhwu @tristanfrum @_Alyssa_J_ and collaborators)! R-SPONDIN2+ mesenchymal cells form the bud tip progenitor niche during human lung development, in @Dev_Cell cell.com/developmental-… #organoids

Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism An #OpenAccess Research Article from Hyuk Nam Kwon, Kristen Kurtzeborn, Satu Kuure @shkuure and colleagues journals.biologists.com/dev/article/14…

This was a great international collaboration with many groups including @sethmasters, @KimSamirah, Franklin Zhong, as well as institutes, hospitals and clinicians in Australia, Israel, Turkey, US, France and Germany. @astar_gis IMCB @ASTARsg @NTUsg @reversade

Deficiency in NLRP1-related inflammasome genes rescued DPP9 lethality in mice and zebrafish models. This included IL-1R, but not IL-18, suggesting the role of IL-1 instead of IL-18 signalling.

Excited to share our latest collaborative work @SciImmunology: we show that rare loss-of-function mutations in DPP9 – a known inhibitor of the NLRP1 inflammosome – fails to repress NLRP1 (1/4) science.org/doi/10.1126/sc…

Early Embryogenesis and Epiegenetics (EEE) conference @WeizmannScience February 2023- Registration and abstract submission are now open. Will be great fun and many short talks to be selected from submitted abstracts. weizmann.ac.il/conferences/em…

Great exchange between two large-scale national projects @QatarGenome & Precision Health Research Program #PRECISE #Singapore during #PMFG2022 , to advance health &clinical breakthroughs in both countries