📣2024年4月1日より、指定難病に追加された疾病があります❗️

・MECP2重複症候群
・線毛機能不全症候群(カルタゲナー症候群を含む)
・TRPV4異常症

難病指定されていなかった病気が指定難病に変わると、医療費助成など様々な面で適切な医療や支援を受けられるようになります。

#難病
#指定難病

'We established the first integrated epigenome map of MECP2 in a health and disease state, and this map can guide future research,' Yi Liu says. wi.mit.edu/news/new-findi… MIT Biology MIT Science

#MECP2 -NeuroAtlas portal,

1/3 Excited to share our paper in Neuron. We profiled the MECP2 epigenome map in normal and Rett syndrome neurons, revealing its role as a cofactor in RNA polymerase II-mediated gene regulation.
cell.com/neuron/fulltex…

3/3 Happy to also share our multi-omics datasets through my website, the MECP2 NeuroAtlas portal at mecp2-neuroatlas.wi.mit.edu. It includes our detailed CUT&Tag profiling, RNA-Seq, ATAC-Seq, AP-MS, and WGBS database in human neurons.

Ver como los Grupos Teaming 💚cumplen 10 años nos emociona mucho por lo que supone para las familias.
Han recaudado 69.293€ para la investigación del Síndrome #DuplicaciónMECP2 , pero puede ser mucho más.
👉¡Únete para que la investigación continue!
🔗bit.ly/t-MECP2

Managing two scientific careers means twice the stress but twice the adventure. Check out my husband Yi Liu 's latest work with his colleagues in the Jaenisch and Young labs at the Whitehead Institute on epigenomic profiling of MECP2 in normal and RTT neurons🧠.

MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons: cell.com/neuron/abstrac…

'Multiplex epigenome editing of MECP2 to rescue Rett syndrome neurons.'
Sci Transl Med 2023-01-18. doi.org/10.1126/scitra…

MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons
#science #publication #research #publication s
abstream.me/entries/118482…

'Knowing which genes MECP2 target, and which genes are directly dysregulated in disease, provides a strong foundation for understanding Rett syndrome,' Yi Liu says. wi.mit.edu/news/new-findi…

This suggests that Rett syndrome may be caused by a decrease in transcription of the genes targeted by MECP2, due to MECP2 mutations that prevent it from binding RNA Pol II or binding DNA.

hayamos podido donar a la investigación del síndrome duplicación mecp2 de Hospital Sant Joan de Déu Barcelona ES la cantidad de 69.293€!!!

💚¡GRACIAS, GRACIAS Y GRACIAS!💚

#SeguimosSumandoSeguimosInvestigando
#Teaming
#DuplicaciónMecp2
#MiradasQueHablan
#Cura
#Tratamiento
#Investigación

They found that for the genes that MECP2 activates, it typically binds a region of DNA upstream of the gene called the transcription start site. It binds to at this site, DNA, and found that MECP2 interacts directly with RNA polymerase II as a cofactor.

The researchers concluded that MECP2 appears to increase and decrease the expression of its target genes. But one new experiment indicated that MECP2 activates at least 80% of its targets, and another indicated that it activates as many as 88% of its targets.

Findings:
First, the researchers created a comprehensive map of where in the sequence of human neuronal genes MECP2 binds, either within genes or in the regulatory regions of DNA near them.

Rett syndrome is caused by mutations to the gene MECP2, which is highly expressed in the brain and appears to play important roles in maintaining healthy neurons. The gene is located on the X chromosome and the syndrome mainly affects girls.

【MECP2重複症候群のお子さんを持つご家族へ】しんどかったらご連絡下さい。疾患特有の症状なのかどうか分かるだけでも不安が和らぐかもしれません。時に一人では抱えきれない程の症状が一気にやってくることもあります。その症状に対して私たち家族は無力です。でも話すことで気持ちは変わります。

They also compared their list of MECP2 targets to the Simons Foundation Autism Research Initiative (SFARI) database of autism-linked genes, and found that 381 genes in that database are targeted by MECP2.

jamás pudimos imaginar cuando creamos el grupo teaming.net/miradasquehabl…
que llegaríamos a tanta gente!😍
Sois más de 880 teamers los que mes a mes colaboráis con nuestro grupo y los que habéis hecho posible que