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Reversade Lab @ReversadeLab

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

Joined September 2016
  • Tweets 290
  • Following 202
  • Followers 467
50 Photos and videos
Reversade Lab retweeted
AJHG@AJHGNews
2 Jan 2025
📢New today! 📰CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans 🧑‍🤝‍🧑@reversadelab & colleagues cell.com/ajhg/abstract/S0002…

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

During evolution, genes can become obsolete and disappear. Here, we characterize CIROZ, an ancestral gene repeatedly lost in some species of fish, birds, reptiles, and mammals. Despite that, we find...

cell.com
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Excellent conference today at #SingaporeFishMeeting2023! And congratulations to Amirah for her poster prize!
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Reversade Lab retweeted
EMBO Mol. Medicine@EmboMolMed
20 Jan 2023
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.202216…
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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…

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

EMBO Molecular Medicine - Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non‐coding regions, which...

link.springer.com
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A great joint work with @mayer_lab, Reversade lab members, clinicians and collaborators!
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Reversade Lab retweeted
Zebrafish Rock!@ZebrafishRock
15 Jan 2023
Handmade time-lapse of zebrafish development. Credit to @andro_pantru. #ZebrafishZunday

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A great lab Christmas lunch! 🎄
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Congratulations Franklin Zhong!! @NTUsg
EMBO YIP@EMBO_YIP
22 Nov 2022
🎉 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: embo.org/press-releases/embo…
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Reversade Lab retweeted
Review Commons@ReviewCommons
15 Nov 2022
"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
Review Commons@ReviewCommons
15 Nov 2022
"<i>A</i> Progeroid Syndrome Caused <i>by RAF1</i> deficiency Underscores the importance of RTK signaling for Human Development" #RefereedPreprint Samantha Wong, @ReversadeLab et al medrxiv.org/content/10.1101/…
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Reversade Lab retweeted
medRxiv@medrxivpreprint
21 Jul 2022
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/shor… #medRxiv
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Reversade Lab retweeted
URochester SMD@URochester_SMD
14 Oct 2022
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
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Reversade Lab retweeted
Laura Mascibroda, PhD 🧬@Mascibroda
14 Oct 2022
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/s41467-0…

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Reversade Lab retweeted
Jason Spence@TheSpenceLab
8 Jun 2022
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-cell/… #organoids
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Reversade Lab retweeted
Development@Dev_journal
4 Oct 2022
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/…
Control and Pycr1/2 double-knockout kidneys immunostained with cadherin 6 (CDH6, white), and calbindin (CALB, green).

ALT Control and Pycr1/2 double-knockout kidneys immunostained with cadherin 6 (CDH6, white), and calbindin (CALB, green).

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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/scii…

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

Loss of DPP9 activity in humans, mice and zebrafish results in pathogenic NLRP1 overactivation.

science.org
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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.
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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
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Reversade Lab retweeted
Jacob (Yaqub) Hanna - يعقوب حنا
@jacob_hanna
29 Sep 2022
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/e…
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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
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