DYRK1A Syndrome retweetledi
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DYRK1A Syndrome
119 posts
DYRK1A Syndrome
@DYRK1Aorg
DYRK1A Syndrome International Association #DYRK1A #DSIA https://t.co/XG64JEtokj
Katılım Mart 2018
84 Takip Edilen160 Takipçiler
DYRK1A Syndrome retweetledi
1. Dyrk1a recruits PV IN mediated feed-forward inhibition in DG-CA2 and DG-CA3 to mediate social recognition 2. Using genetic epistasis, we identify molecular & circuit-based enhancers of Dyrk1a function to reverse developmental synaptic, circuit & social recognition impairments.
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DYRK1A Syndrome retweetledi
Amy's child Myles has a #DYRK1A genetic variant. She shares this advice to newly diagnosed families: "Take a DEEP breath. It will be ok, I know this is earth-shattering news. Your child will make leaps and goals in their own time." #SimonsSearchlight
➡️ bit.ly/Family_Story_M…
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DYRK1A Syndrome retweetledi
C08 #ESHG2022 Amelie Piton
DYRK1A syndrome
- frequent cause of NDD
- mostly missense variants in Kinase domain
- noted effect on autophosphorilation
- typically microcephaly, but a mirror seen
- expressive communication features prominent
Much data from
pubmed.ncbi.nlm.nih.gov/34345024/
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DYRK1A Syndrome retweetledi
Congrats @LittleLevyy in the @damonpagelab on a successful defense! Levy's focus was on investigating cellular and molecular mechanisms underlying brain undergrowth & #autism-relevant behavioral deficits caused by #DYRK1A mutations, & identifying potential targeted therapeutics.
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DYRK1A Syndrome retweetledi
Check this out. A demo of what our new banner will look like for next season. Proud to display our amazing sponsors and an honour to have @DYRK1Aorg and @Bradleysfight on there too. @IAmJermainDefoe
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DYRK1A Syndrome retweetledi
A new pub by Fenster, Ziegler, and members of the #SimonsSearchlight team analyzed the medical history data of patients w/likely pathogenic or pathogenic variants in the #DYRK1A gene to further establish their connection to neurodevelopmental disorders: pubmed.ncbi.nlm.nih.gov/35285131/
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DYRK1A Syndrome retweetledi
Hot off the press from our team: the first systematic characterisation of speech and language skills in #DYRK1A syndrome
@speechneuro @ruthbraden2 @a_brignell @BregjevanBon @drdavidamor @Lottiedmorison @MCRI_for_kids nature.com/articles/s4143…
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DYRK1A Syndrome retweetledi
The manuscript, in which we identified that mutations in ASD/ID risk gene DYRK1A cause microcephaly and decreased neuronal growth through decreased growth factor signaling, can be found here. @LittleLevyy
pubmed.ncbi.nlm.nih.gov/33840455/
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DYRK1A Syndrome retweetledi
George is taking part in our Space Race in memory of his friend James. George has Autism, Visual Impairment, Epilepsy, a Severe Learning Disability, and was recently diagnosed with DYRK1A Syndrome.
Sadly James passed away last year while being supported by us 💙
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We thank you for all the support and attention.
Mystery Tackle Box@MysteryTackleBx
We helped @RandyMoss organize the first Straight Bass Classic in memory of #SidHartman and to raise awareness about @DYRK1Aorg. Support a great cause by picking up a #StraightBassHomie shirt! Proceeds will go to advancing DYRK1A research: youtu.be/1rMbk4Dh83Q
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DYRK1A Syndrome retweetledi
Happy to share insights from our lab about "Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome … pubmed.ncbi.nlm.nih.gov/34587162/
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DYRK1A Syndrome retweetledi
Thanks for an Amazing night at the K supporting #RareDisease. 💙🙏#DYRK1A @Taylor_Michael3 @UpliftingAth @Royals @Gretti_53
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DYRK1A Syndrome retweetledi
Kansas City Royals Foundation@KCRoyalsFdn
We had the amazing opportunity to partner with @Royals outfielder Michael Taylor and @UpliftingAth to host several families at The K for a wonderful night of baseball and fun 💙⚾️ Special thank you to Michael for the generous donation of $50,000 in support of Royals Charities!
Blue Springs, MO 🇺🇸 English
DYRK1A Syndrome retweetledi
Great job by group 2 raise $ for @DYRK1Aorg. Appreciate stories by #vikings on Sid. Still thinking about @ChadHartmanShow quote about son’s courage: “There are people in this room who are heroes to so many people. I have one hero in my life and that’s [Quintin].”
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DYRK1A Syndrome retweetledi
HOF football player and HOF angler?
@RandyMoss helped host the Straight Bass Classic to raise money for @DYRK1Aorg and honor Sid Hartman on Lake Minnetonka today. @kare11 #kare11sports
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DYRK1A Syndrome retweetledi
Carrera Virtual D ’GENES DYRK1A
#hazdeporteporeldiainternacionalDyrk1A
Inscripciones famu.es @la_famu
torrepacheco.es/news/carrera-v…
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DYRK1A Syndrome retweetledi
He's back! Our old friend @RandyMoss is back in the Twin Cities to host a fishing tournament benefitting DYRK1A, a rare syndrome that affects @ChadHartmanShow's son Quintin. Chad and Randy talk about that and more including his relationship with Sid!
bit.ly/3f48l2X
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@ChadHartmanShow @RandyMoss Thank You from all the DYRK1A Kids & their families.
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DYRK1A Syndrome retweetledi
Memorable day for our family. @RandyMoss came to Lake Minnetonka to honor my father, he raised money for kids who have @DYRK1Aorg like my son and only hero, Quintin. No money goes to our family. If you can contribute in any way, thanks for your consideration. ❤️🙏🏼
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