Bruno REVERSADE

[Bruno REVERSADE @reversade]

@shifengxue @ZebrafishRock It's the #TriangleOfSadness

[Bruno REVERSADE @reversade]

@NRivron @Carinejoubran @jacob_hanna @vlad_bndk @Shadi_Tarazi @mycomar @AlejandroAgCa @SShiokhi And my version...

[Nicolas Rivron @NRivron]

@Carinejoubran @reversade @jacob_hanna @vlad_bndk @Shadi_Tarazi @mycomar @AlejandroAgCa @SShiokhi 😂 Here is my version of it. Good times.

[Bruno REVERSADE @reversade]

@NEJM A sweet tooth?

[Nature Genetics @NatureGenet]

‼️ PUBLISHED ONLINE @NatureGenet
📰 Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
🧑🏿‍🤝‍🧑🏻 @reversade and team
👇🏿
<https://t.co/FZGHEpGnde>

[Bruno REVERSADE @reversade]

@jbwallingford A thought: maybe homo sapiens has supplanted traditional animal models (frog, chicken, mouse) inevitably squeezing out superb Dev Bio to peripheral journals. The advent of deep sequencing has introduced a paradigm shift, placing humans at the center of attention.

[Reversade Lab @ReversadeLab]

Check out our latest preprint! We describe the first human condition from the loss-of-function of the proto-oncogene RAF, that results in a neonatal lethal progeroid syndrome (1/3)
https://t.co/DBcY7eGcjg

[Bruno REVERSADE @reversade]

@ericmiska @NavinBrian @ericmiskalab @GeneticsCam @GurdonInstitute @ClareCollege Bravo

[Reversade Lab @ReversadeLab]

Loss of C2orf69 defines a fatal #autoinflammatory syndrome in humans and #zebrafish that evokes a glycogen storage-associated mitochondriopathy @AJHGNews Incredible collaboration between @fred_bard @MathuruLab @Holab_DukeNUS @MaurerStroh #mitochondria https://t.co/imDugeiP2i

[Bruno REVERSADE @reversade]

@sethmasters @ReversadeLab @CassHarapas @KimSamirah It will be known as Hatipoglu Syndrome.

Thank you all for this fruitful collaboration and compelling disease modeling in mice.

Next DPP8 Deficiency syndrome.....

[De Sandre-Giovannoli Annachiara @DeGiovannoli]

Heureuse d’annoncer la parution de notre dernier article décrivant l’identification du gène responsable d’une nouvelle maladie rare, le syndrome “MADaM” (Dysplasie Acromandibulaire associée à MTX2”) dans Nature Communications.

https://t.co/GKDKmHoiRH

[Bruno REVERSADE @reversade]

@ReversadeLab @NatureComms A unifying model: what if progeroid mitochondrapathies such as mutant PYCR1, P5CS , Leigh syndrome was in part explained by impaired mitochondrial import of nuclear-encoded proteins by MTX1/MTX2 ?

[Reversade Lab @ReversadeLab]

Loss of MTX2, a #mitochondria protein, causes mandibuloacral dysplasia, a #laminopathy - like #progeroid disorder. Our work links mitochondrial dysfunction to altered #nuclear morphology. #RareDisease #aging @NatureComms https://t.co/vILZD4TF26

[Bruno REVERSADE @reversade]

@ReversadeLab Bravo a Carine pour ce superbe travail

[Reversade Lab @ReversadeLab]

We studied fetuses with neural tube closure defects and identified a role of NUAK2, an essential #kinase, in #Hippo signaling. Modeled in patient derived cells and #organoid. Congrats Carine! #RareDisease #anacephaly #neuroscience #cytoskeleton

[Samantha Morris @morris_lab]

I invest a lot of energy trying to recruit postdocs to my lab. I haven't received a SINGLE non-immigrant postdoc application in the past five years

[Bruno REVERSADE @reversade]

Sience (fiction): frogs with extra limbs https://t.co/0i3B45c2YN

[Reversade Lab @ReversadeLab]

Paper in print version of @nature today. Controlling #limb numbers. This #Xenopus has rnf43/znrf3 mutation on the right (#polymelia) and rspo2 mutation on the left (#amelia). #wnt #devbio @the_Node https://t.co/xFe0mMp4lP

[Bruno REVERSADE @reversade]

ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice https://t.co/9LB14kG1iR

[Bruno REVERSADE @reversade]

#TheNoseGene: the Team @ReversadeLab discovers mutations in #SMCHD1 causing absent nose at birth #Arhinia.

[AAAS @aaas]

This polo star won a prestigious match with help from six cloned horses. @sciencecohen of @ScienceMagazine explains. https://t.co/jgTz3P0egk