Depuis un an, des centaines de familles ont enfin pu mettre un nom sur l’origine des troubles du neurodéveloppement de leur enfant : une mutation #génétique jusque-là jamais décrite, qui touche un petit ARN non codant
Je vous dis tout sur le syndrome #ReNU
www.lemonde.fr/realites-bio...
Today, we presented at the meeting of the Dutch League against Epilepsy and EpilepsieNL, on some of our work on #ReNU syndrome, #SETD1B and #UGP2. Myrrhe Venema and Michela Maresca for their talks both won a Young Investigator Award for clinical and preclinical research, respectively. #proudPI !
循環型社会を目指す！RENU素材のサステナブルTシャツ登場 #サステナブル #浦安D-Rocks #RENU
浦安D-Rocksが、サステナブルなRENU素材を使用したTシャツを発表。ファッションロス削減を目指す取り組みに注目！
環型社会を目指した浦安D-Rocksの新しい取り組みとRENU素材のTシャツ #千葉県 #浦安市 #サステナブル #浦安D-Rocks #RENU
浦安D-Rocksが、RENU素材を使用したサステナブルTシャツを導入。衣類再生プログラムの一環で、環境保護を推進します。
Importantly, most of the mutations potentially responsible for this condition fall outside of the #ReNU syndrome critical region – they cluster in other parts of the U4 structure which make contacts with other RNAs and proteins, or within U4 itself.
The headlines?
1) Variants on both copies of #RNU4-2 cause a recessive neurodevelopmental disorder with prominent speech delay
2) One of the hallmarks is distinct white matter changes on MRI
3) It is clinically and genetically distinct from #ReNU syndrome
www.medrxiv.org/content/10.1...
Besides clarifying the critical regions of #RNU4-2 linked to #ReNU syndrome, this study found other regions of the gene which are sensitive to mutations, and raised the possibility of a distinct recessive condition related to the same gene.
Last year @yuyangchen.bsky.social, @nickywhiffin.bsky.social and co. made headlines with the extraordinary discovery of #ReNU syndrome – a dominant condition caused by *de novo* changes in a *non-coding* snRNA gene, #RNU4-2.
www.nature.com/articles/s41....
निर्गुण भजन – जिनगी के सचाई | #Renu Raj Sah | Jingi Ke Sachchai | #Bhojpuri Nirgun Bhajna 2025
नया गाना सबसे पहिले सुने खातिर लिंक पर क्लिक करके चैनल के सब्सक्राइब करी :- फेसबुक पर देखने के लिए इस पेज को फॉलो कीजिए - Album :- Jingi Ke Sachchai Song :- Jingi Ke Sachchai Singer :- Renu Raj Sah…
🚔 OTFCA Update
Contact info for Hamilton County’s Regional Enforcement Narcotics Unit (RENU) has been updated on the site.
#webchickupdate #OTFCA #RENU #HamiltonCounty #LawEnforcementUpdate #NarcoticsTaskForce
#Video | सुना रे सुना महलिया | #Renu Raj Sah | Suna Re Suna Mahaliya | Bhojpuri Nirgun Bhajan
नया गाना सबसे पहिले सुने खातिर लिंक पर क्लिक करके चैनल के सब्सक्राइब करी :- फेसबुक पर देखने के लिए इस पेज को फॉलो कीजिए - Album :- Suna Re Suna Mahaliya Song :- Suna Re Suna Mahaliya Singer :- Renu Raj…
浦安D-Rocks、ウェア循環プログラム開始でサステナビリティを推進 #浦安D-Rocks #PASSTO #RENU
浦安D-Rocksが新たに始めた「ウェア循環プログラム」。循環型社会の実現を目指し、衣類の回収とリサイクルを行います。
This is such a lovely article from James Coney about his wee boy Charlie, who has #ReNU syndrome. As clinicians and researchers we want to shorten the Diagnostic Odyssey for our Rare Disease patients, but we especially want to find better ways to help our patients and families. #Genomics
A powerful story about disabilities with no names, and the difference breakthroughs in understanding can have.
'Parent after parent describes their child’s love for water [...] laughing hysterically at slapstick. They love bubble tubes and game shows.
Here was our child over and over again.'
#ReNu
ファミマが衣料品回収でサステナブル社会へ貢献！再生ポリエステルへの取り組み #ファミリーマート #コンビニエンスウェア #RENU
ファミリーマートが不要になった衣料品の回収事業を開始。回収された衣料品は、同社のオリジナルブランド「コンビニエンスウェア」にも使用される再生ポリエステル「RENU」の原料として活用されます。持続可能な社会の実現に向けた取り組みが注目されます。
#knyfanfiction written in Indonesia
— Obrolan minum Teh.
Ship:🔥💎 #renu slight 🍃🌊 #sanegiyu medium.com/@liddolmoonf...
