Bruno REVERSADE

@shifengxue @ZebrafishRock It's the #TriangleOfSadness

#zebrafish experts, we mixed up a probe recently and got this pattern at 24hpf. What is this diamond-shaped structure in the head and what could this probe be (might be 2 probes)? Or is it just super intense probe trapping? #GuessThatISH @ZebrafishRock

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

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

Regular meeting at #TheHannaLab #EEE2023 @reversade @NRivron @jacob_hanna

@NEJM A sweet tooth?

A 42-year-old woman presented with subacute swelling and pain on the right side of her chin. On examination, there was an area of skin dimpling with overlying scab on the chin and a discolored right lateral incisor. nej.md/40vZE7E #dermatology

‼️ PUBLISHED ONLINE @NatureGenet 📰 Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis 🧑🏿‍🤝‍🧑🏻 @reversade and team 👇🏿 <go.nature.com/3z23c4G>

@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.

A thought: The problem isn't that mind-blowing dev biol isn’t being done; it's that Cell/Science/Nature won't publish it without some ridicul-omics. Why? The field's weak storytelling in recent years? Our failure to nurture and promote a new generation of stars? Both? Or?

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) medrxiv.org/content/10.110…

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

Congratulations to @NavinBrian for a successful viva! @ericmiskalab @GeneticsCam @GurdonInstitute @ClareCollege

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 authors.elsevier.com/c/1d7lbgeW~iUL

@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.....

An autoinflammatory syndrome caused by DPP9 deficiency, leading to NLRP1 inflammasome activation! Wonderful collaboration with Zhong lab and @ReversadeLab, led by @CassHarapas @KimSamirah and Kenneth Lay, with Jon Bernstein and Nevin Hatipoglu. 1/5 medrxiv.org/content/10.110…

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. #Sec38" target="_blank" rel="nofollow noopener">nature.com/articles/s4146…

@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 ?

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 nature.com/articles/s4146…

@ReversadeLab Bravo a Carine pour ce superbe travail

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

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

Sience (fiction): frogs with extra limbs twitter.com/ReversadeLab/s…

ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice science.sciencemag.org/content/early/…

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

This polo star won a prestigious match with help from six cloned horses. @sciencecohen of @ScienceMagazine explains. bit.ly/2gLptgi