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Reversade Lab (@ReversadeLab) profile picture

Reversade Lab

@ReversadeLab

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

 Saudi Arabia
reversade.com
Joined September 2016
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Photo by Reversade Lab (@ReversadeLab)Photo by Reversade Lab (@ReversadeLab)Photo by Reversade Lab (@ReversadeLab)Photo by Reversade Lab (@ReversadeLab)Photo by Reversade Lab (@ReversadeLab)Photo by Reversade Lab (@ReversadeLab)Photo by Reversade Lab (@ReversadeLab)Photo by Reversade Lab (@ReversadeLab)Photo by Reversade Lab (@ReversadeLab)Photo by Reversade Lab (@ReversadeLab)
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Reversade Lab retweeted
AJHG (@AJHGNews) profile picture
AJHG@AJHGNews2 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…
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Excellent conference today at #SingaporeFishMeeting2023! And congratulations to Amirah for her poster prize!
Image from Reversade Lab (@ReversadeLab)
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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…
Image from EMBO Mol. Medicine (@EmboMolMed)
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A great joint work with @mayer_lab, Reversade lab members, clinicians and collaborators!
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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

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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Handmade time-lapse of zebrafish development. Credit to @andro_pantru. #ZebrafishZunday
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A great lab Christmas lunch! 🎄
Image from Reversade Lab (@ReversadeLab)
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Congratulations Franklin Zhong!! @NTUsg
EMBO YIP (@EMBO_YIP) profile pictureEMBO YIP@EMBO_YIP22 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…
EMBO welcomes 24 Young Investigators – Press releases – EMBO

EMBO welcomes 24 Young Investigators – Press releases – EMBO

The group leaders will join the existing network of 135 current and 390 former members of the programme

embo.org
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"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) profile pictureReview Commons@ReviewCommons15 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/…
Image from Review Commons (@ReviewCommons)
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Reversade Lab retweeted
medRxiv (@medrxivpreprint) profile picture
medRxiv@medrxivpreprint21 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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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
Image from URochester SMD (@URochester_SMD)
Image from URochester SMD (@URochester_SMD)
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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) profile picture
Jason Spence@TheSpenceLab8 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
Image from Jason Spence (@TheSpenceLab)
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Reversade Lab retweeted
Development (@Dev_journal) profile picture
Development@Dev_journal4 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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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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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.
Image from Reversade Lab (@ReversadeLab)
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We identified 3 families segregating recessive loss-of-function DPP9 germline variants, presenting with immunity defects which we termed Hatipoğlu syndrome. Patient cells confirmed that the mutants were strong enzymatic hypomorphs, causing NLRP1 overactivation.
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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

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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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…
Image from Jacob (Yaqub) Hanna - يعقوب حنا (@jacob_hanna)
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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
Image from Qatar Genome Program | برنامج قطر جينوم (@QatarGenome)
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