Reversade Lab

We study #HumanDevelopment #Embryology #Genetics and #RareDisease at @KAUST. Led by Bruno @reversade.

[AJHG @AJHGNews]

📢New today!
📰CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
🧑‍🤝‍🧑@reversadelab & colleagues
https://t.co/mchTzHIurn

[Reversade Lab @ReversadeLab]

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

[EMBO Mol. Medicine @EmboMolMed]

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: https://t.co/Om14dnosE5

[Reversade Lab @ReversadeLab]

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

[Reversade Lab @ReversadeLab]

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. https://t.co/meV5lngkUN

[Zebrafish Rock! @ZebrafishRock]

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

[Reversade Lab @ReversadeLab]

A great lab Christmas lunch! 🎄

[Reversade Lab @ReversadeLab]

Congratulations Franklin Zhong!! @NTUsg

[EMBO YIP @EMBO_YIP]

🎉 Welcome our 24 new Young Investigators joining the @EMBO_YIP network! The new YIPs will receive financial and practical support for a period of four years, starting in January 2023 – congratulations!

➡️ Read more in the press release here: https://t.co/9ot0mynvsE

[Review Commons @ReviewCommons]

"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

[medRxiv @medrxivpreprint]

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing https://t.co/yAxJUCWwPI #medRxiv

[URochester SMD @URochester_SMD]

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 https://t.co/t7oQgQ9gX8 #URochesterResearch

[Laura Mascibroda, PhD 🧬 @Mascibroda]

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
https://t.co/6natKDACKy

[Jason Spence @TheSpenceLab]

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

https://t.co/jASmqJC1ao

#organoids

[Development @Dev_journal]

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

https://t.co/bIracKorz5

[Reversade Lab @ReversadeLab]

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

[Reversade Lab @ReversadeLab]

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)
https://t.co/9HZRVcekoc

[Reversade Lab @ReversadeLab]

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.

[Jacob (Yaqub) Hanna - يعقوب حنا @jacob_hanna]

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. https://t.co/Zgictk0U8E

[Qatar Genome Program | برنامج قطر جينوم @QatarGenome]

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