#7Dup - Twitter Hashtag

5 days ago

Trend friend: $ONLYMARMS ✨ momentum feels real. send $ONLYMARMS up. https://t.co/kZkb2dn3vy #7dup https://t.co/DgcUw1h0hR

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Giuseppe Testa @gtesta72

over 2 years ago

actionable insight into #7q11.23 #CNV with preclinical efficacy of #LSD1 inhibition in #7Dup syndrome https://t.co/vp7zS47jSV /7

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Giuseppe Testa @gtesta72

over 2 years ago

Excited to share in print our disease modelling of #neurodevelopmental conditions caused by #7q11.23 #CNV, #Williams #WBS and #7Dup syndromes https://t.co/vp7zS46M3n /1

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Giuseppe Testa @gtesta72

almost 4 years ago

Both genotypes showed #downregulation of the #mGLUR5-ERK-mTOR-protein synthesis axis at steady-state, which could be rescued through #BDNF stimulation in #7Dup only, indicating a complex interplay between #7q11.23 dosage and #translation #regulation. (15/20)

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Giuseppe Testa @gtesta72

almost 4 years ago

Converging evidence indicates #GTF2I, from the #7q11.23 locus, is a key mediator of the cognitive-behavioral phenotypes associated with #WBS and #7Dup. However, its mechanistic role in cortical development and 7q11.23-dependent behavioral alterations remained elusive (5/20)

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Michele Gabriele 🔬🧬📸 @labronic_mike

over 5 years ago

Happy to share this work: here we identified three deacetylase inhibitors that decreased the abnormal expression level of #GTF2I in #7Dup #neurons! Check it out if you study #autism #WilliamsBeurensyndrome #7q1123duplicationsyndrome #neurodevelopmentaldisorders #iPSCs

Giuseppe Testa @gtesta72

over 5 years ago

excited to share our latest work in @MolecularAutism https://t.co/4oNcFGdMH1 crowning a long journey in our @ERC_Research #DISEASEAVATARS all the way from mechanistic insight on #Williamssyndrome and #7q11.23duplicationsyndrome to #drug #repurposing in patient-specific neurons /1

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Giuseppe Testa @gtesta72

over 6 years ago

kudos to @ReinaldShyti @IEOufficiale for pursuing the challenge of new therapeutic needs for #autism studying #WilliamsBeuren and #7Dup syndromes and @Fondaz_Veronesi for fostering frontier research by our most talented researchers

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The Conversation ES @Conversation_E

over 6 years ago

Dos condiciones clínicas, el #SíndromeDeWilliams y de #7dup, albergan mucha información sobre nuestra historia evolutiva. Por @AGMAndirko, @cedricboeckx, @ptsgmartins (@UniBarcelona); @polvere7, @gtesta72 (@LaStatale) y @MatteoZanella88 (@IEOufficiale). https://t.co/FyOxKGMFUU

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Giuseppe Testa @gtesta72

over 6 years ago

10/ We differentiated our cohort of #WBS and #7Dup induced Pluripotent Stem Cells #iPSC into cranial neural crest stem cells

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Giuseppe Testa @gtesta72

over 6 years ago

3/This work builds on our previous findings @NatureGenet https://t.co/FOu1AyAEmV that established a cohort of #WBS and #7Dup induced pluripotent stem cell (iPSC) lines which revealed major transcriptional dysregulation already in pluripotency

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Giuseppe Testa @gtesta72

over 6 years ago

2/ #WBS and #7Dup feature symmetrically opposite physical and intellectual phenotypes, such as more (#WBS) or less (#7Dup) gracile facial features, along with increased sociability (#WBS) or Autism Spectrum Disorder (#7Dup)

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Giuseppe Testa @gtesta72

over 6 years ago

1/Williams Beuren Syndrome #WBS and 7q11.23 Duplication Syndrome #7Dup are two syndromes respectively caused by hemizygous deletion or duplication of 7q11.23, a region spanning ~27 genes that includes chromatin regulator #BAZ1B

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