lisapavinato.bsky.social
Postdoctoral researcher working at IOR - Bellinzona 🇨ðŸ‡
Passionate for neurodevelopment and neurogenetics, studying genetic human diseases. 🧬
#Stem cells and brain #organoids enthusiast 👀🧫
12 posts
63 followers
210 following
Getting Started
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Maybe not...but I would be happy to have a chat with you regarding this! Reach me out if possible (your profile doesn't allow private messages) 🙃
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P.S.: yes, I know it's not a full book...but my mom will be happy in any case 😄 🥰
#science #CAPRIN1 #RareDisease #NeurodevelopmentalDisorder
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chapter about the role of CAPRIN1 gene in neurological conditions:
Handbook of the Biology and Pathology of Mental Disorders
Chapter: Neurogenetic Disorders and CAPRIN1
Curious to read it? Let's have a look here: lnkd.in/dcztYgNX
(continue👇)
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Additionally, once more, the study of the methylation profile ("episignature") was fundamental for the classification of the variant. Overall, here we suggested that variants impacting exon 20 may be associated to a distinct form of Rubinstein–Taybi syndrome (RSTS).
Have a look: lnkd.in/dimVaVXi
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Here, we show how a EP300 variant previously defined as of uncertain significance was actually pathogenic for our patient, causing three-dimensional alteration and skipping of exon 20.
continue 👇