応援してます📣

入院中の子どもと家族を笑顔に！みんなで小児病棟を支えよう！は、あと29日で、約234人からの協力がないと支援が届きません。ひとりでも多くの方に広めてください! readyfor.jp/projects/smile… #クラウドファンディング READYFOR（レディーフォー）より

BBC interview on the radio and TV discussing challenges in rare disease trials funding Sheffield Uni - Clinical Medicine 🦠 💉 🫀💙🔬🩺 Sheffield Children's Research & Impact at Sheffield #RareDisease #research #therapies BetterFuture4U HNRNP Family Foundation BBC News (UK) BBC Yorkshire Genomics England North East & Yorkshire Genomics

Facepaint eyes enabled for infants:

Degradome: thesimsresource.com/downloads/1596…
Liposome: thesimsresource.com/downloads/1622…
Seq:
thesimsresource.com/downloads/1539…
Primer: thesimsresource.com/downloads/1580…
hnRNP: thesimsresource.com/downloads/1528…
U170K: thesimsresource.com/downloads/1559…

#Sims4 #TheSims4 #ts4cc #s4cc #TS4 #Sims4 Infants

It’s #GIVINGTUESDAY ! All donations go to research and supporting our HNRNP-RNDD community -including family meetings!

YBRP &HNRNP family foundation 合同アメリカミーティング　(シアトル)7/28-30

当会が令和6年度キリン福祉財団　福祉のちから開拓事業の助成に採択されました‼︎応援してくださる方々がいて、本当にありがたく、勇気を頂けます。
当会のビジョン、
HNRNP疾患患者の生活の質の向上と治療の実現に貢献するために使わせていただきます。

今週末です。
2/3(土) 12:30-14:30頃
オンラインお話し会します。
HNRNP疾患の家族、介護者で
出入り自由、カメラオフ可能で、テーマなし、ゆるくお話しします。
患者ご家族のご連絡お待ちしております

希少疾患検索サイトにHNRNP関連神経発達症が掲載されました。当会のHPもリンク頂いてます

angelsmile.scuel.me/link_list/?ang…

It's Lab Meeting Day! Todd tried out some FISH (not food!), Jenna taught us about the integrated stress response, and Joe showed us how drugs change hnRNP A1 stability. Congrats to Todd for winning experiment of the week!

Lab Meeting Day! Kaitland starts a new project on synaptic genes altered by hnRNP A1 dysfunction, Hannah makes a new mouse, and Joe tests some drugs! Experiment of the week goes to: Hannah! Congrats! 🥳

LJSplice (OpenAccess) is released! Our new ML models provide a roadmap for designing optimal splicing screens for antisense therapeutics.

Click here: (hts.bio/app/screen/vie…) to see it capture the A1/A2 binding sites of hnRNP on SMN2!

#lajollalabs #htsbio #softwarerelease

お母さんは製薬会社勤務。患者会を立ち上げたとのこと。拡散で応援します📣

超希少疾患と診断されたわが子　孤独と不安を乗り越えるため自ら患者会を作った母親の思い（47NEWS）

「ＨＮＲＮＰ関連遺伝子」に変異が生じて起きる病気の一つ、バイン症候群 news.yahoo.co.jp/articles/7ff80…

I am very happy to share that our work was published in JCI insight. We showed that IncRNA Malat1 and its interaction with hnRNP U are required for cardiomyocyte proliferation.

insight.jci.org/articles/view/…

📣 Happy to share our most recent publications

🎯 NAR
Multivalency of Glucocorticoid Receptor

🎯 PNAS
TLX binds oleic acid

🎯 Protein Sci
Topological dynamics of AR-NTD

🎯 Protein Sci
Sam68 & hnRNP A1 synergy in Spinal Muscular Atrophy

🎯 FASEB J
MR modulates GR

This photo from our recent #HNRNP family and scientific symposium captures my science energy a little too well. Hair is flying through the air and I’m gesticulating wildly while giving a talk 😂

The RNA-binding selectivity of the RGG/RG motifs of hnRNP U is abolished by elements within the intrinsically disordered region biorxiv.org/cgi/content/sh… #biorxiv_biochem

1HD1: HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D0 (HNRNP D0 RBD1), NMR – rcsb.org/structure/1HD1

2MQP: Structural Investigation of hnRNP L bound to RNA – rcsb.org/structure/2MQP

6DG1: NMR structure of the second qRRM2 domain of human hnRNP H – rcsb.org/structure/6DG1

We now have a quality of life survey! We’d appreciate if parents and caregivers of individuals with HNRNP-Related Neurodevelopmental Disorders would participate! hnrnp.org/general-5