Reza Maroofian
reza-maroofian.bsky.social
Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Medical Genetics, Neurogenetics & Genomic Medicine.
👤 Joined on 17 November 2024
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- 17 Kas 2024, 23:09
🎉 Bluesky'e katıldı - İlk kullanıcı adı:
@reza-maroofian.bsky.social
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❤️ Beğendiği Gönderiler
Crowther, Jouen-Tachoire, @reza-maroofian.bsky.social, @profkalium.bsky.social et al. report new disease-causing variants in the TASK-1 and TASK-3 potassium channels responsible for two different neurodevelopmental disorders. rupress.org/jgp/article/... #Biophysics #IonChannels #Pathophysiology
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Biallelic DIAPH1 loss of function isn't just neurodevelopmental. 13% of patients develop lymphoma, and fibroblasts have DNA repair defects. Standard chemo may be too toxic (cm). bit.ly/3RJDfUv
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Many thanks, @depaceraffa.bsky.social! I am deeply honored by this recognition and grateful to all who made it possible. 🙏
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🧬 New from Lambton et al! 📄 Bi-allelic ATG12 variants impair #autophagy and cause a neurodevelopmental disorder
Show Post🧬New from De Pace et al! 📄BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
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