Bruno REVERSADE
@reversade
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@Carinejoubran @reversade @jacob_hanna @vlad_bndk @Shadi_Tarazi @mycomar @AlejandroAgCa @SShiokhi 😂 Here is my version of it. Good times.
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‼️ 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>
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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
medrxiv.org
Somatic and germline gain-of-function point mutations in RAF, the first oncogene to be discovered in humans, delineate a group of tumor-prone syndromes known as RASopathies. In this study, we...
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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
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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
nature.com
Nature Communications - Mandibuloacral dysplasias (MADs) are rare progeroid syndromes characterized by nuclear morphological and functional abnormalities. Here the authors report that loss of...
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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
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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
Bonnard, Reversade @ReversadeLab @Astarhq et al. report that NUAK2, operating on the Hippo signaling axis, is an essential kinase that regulates cytoskeletal processes that govern cell shape during neural tube closure. https://t.co/D6WPr4S9VB
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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
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Sience (fiction): frogs with extra limbs
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
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ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice
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#TheNoseGene: the Team @ReversadeLab discovers mutations in #SMCHD1 causing absent nose at birth #Arhinia.
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This polo star won a prestigious match with help from six cloned horses. @sciencecohen of @ScienceMagazine explains. https://t.co/jgTz3P0egk
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ELABELA Is an Endogenous Growth Factor that Sustains hESC Self-Renewal via the PI3K/AKT Pathway: Cell Stem Cell http://t.co/6dTx2Vd5xj
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