#nr2f1

[leedsomics]

Multi-omics analysis identifies LBX1 and NHLH1 as central regulators of human midbrain dopaminergic neuron differentiation

Midbrain dopaminergic neurons (mDANs) control voluntary movement, cognition, and reward behavior under physiological conditions and are implicated in human diseases such as Parkinson's disease (PD). Many transcription factors (TFs) controlling human mDAN differentiation during development have been described, but much of the regulatory landscape remains undefined. Using a tyrosine hydroxylase (TH) iPSC reporter line, we have generated time series transcriptomic and epigenomic profiles of purified mDANs during differentiation. Integrative analysis predicted novel central regulators of mDAN differentiation and super-enhancers were used to prioritize key TFs. We find LBX1, NHLH1 and NR2F1/2 to be necessary for mDAN differentiation and show that overexpression of either LBX1 or NHLH1 can also improve mDAN specification. NHLH1 is necessary for the induction of neuronal miR-124, while LBX1 regulates cholesterol biosynthesis, possibly through mTOR signaling. Consistently, rapamycin treatment led to an inhibition of mDAN differentiation. Thus, our work reveals novel regulators of human mDAN differentiation. http://dlvr.it/ShZYyJ

[emmahastwomoms]

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A post shared by Ashlee - Emma's Mommy (@emmahastwomoms)

It’s a grainy video with unflattering views but I do not care because Emma took steps on her own today and our therapist was able to capture them on our telehealth session!!!! This has been something we’ve been working on for over 2 years and today Emma decided it was time to 1) Stand Unassisted for 3+ minutes (multiple times) and 2) Take Unassisted Steps (multiple times)!! I am unbelievably proud of this girl and her resilience. Even though we’ve had major regressions over the past few months, there are still times when she surprises all of us and does something new!! ⁣ ⁣ #emmaleimomi #mygirl #firstunassistedsteps #unassistedwalking #unassistedstanding #physicaltherapy #PT #shedidit #specialneeds #specialneedslife #bbsoas #nr2f1 #cvi #onh #ona #hypotonia #gtube #autism #asd #spd #AFOs #billyshoes #teletherapy https://www.instagram.com/p/CCJtIZgH--H/?igshid=13qfakm0yyrj0

[bpod-bpod]

Lying Dormant

Relapse is a constant threat for cancer survivors. Long after successful treatments, cancer can return, or spread into other tissues, a process known as metastasis. These secondary tumours, often more resistant to treatment, are born from disseminated tumour cells (DTCs) that can remain inactive for years, in a dormant state controlled by the protein NR2F1. Found at much higher levels in dormant DTCs than in actively multiplying cells, NR2F1 controls the expression of multiple genes to suppress cell proliferation. Recent research found that, by activating production of NR2F1, a small molecule called C26 could promote dormancy in mice with lung cancer: as seen in their lung tissues, mice treated with C26 (right-hand panels) developed far fewer secondary tumours, visible as small dark purple stains, compared to untreated mice (left). Targeting a general mechanism acting across several cancers, activating NR2F1 could be a promising strategy to reduce the risk of metastasis.

Written by Emmanuelle Briolat

Image from work by Bassem D. Khalil and colleagues

Icahn School of Medicine at Mount Sinai, New York, NY, USA

Image originally published with a NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) Attribution

Research published in Journal of Experimental Medicine, November 2021

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[nr2f1foundation]

NR2F1 Foundation

The NR2F1 Foundation empowers families and individuals living with a rare NR2F1 mutation through education, awareness and research. Mutations of the NR2F1 gene, also known as Coup-TF1, have been associated with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS). Our vision is that every single family and individual living with rare NR2F1 gene mutations will live an empowered and limitless life.

https://nr2f1.org/ Facebook Twitter Linkedin Youtube Instagram Linktree

[kevinmcklein]

Hallan un modo de determinar si células metastásicas en el cáncer de mama están inactivas o son pronto mortales

Hallan un modo de determinar si células metastásicas en el cáncer de mama están inactivas o son pronto mortales

EUROPA PRESS

Las metástasis en la médula con ninguna, o una pequeña cantidad, de la proteína NR2F1, resultan mortales.

Usando esta investigación, los médicos podrían monitorizar a sus pacientes con aspirados de médula ósea.

Investigadores de Mount Sinai, en Estados Unidos, han identificado una proteína como un marcador que puede indicar si un paciente con cáncerdesarrollará una recurrencia de…

[que-noticias]

Hallan un modo de determinar si células metastásicas en el cáncer de mama están inactivas o son pronto mortales

Hallan un modo de determinar si células metastásicas en el cáncer de mama están inactivas o son pronto mortales

EUROPA PRESS

Las metástasis en la médula con ninguna, o una pequeña cantidad, de la proteína NR2F1, resultan mortales.

Usando esta investigación, los médicos podrían monitorizar a sus pacientes con aspirados de médula ósea.

Investigadores de Mount Sinai, en Estados Unidos,han identificado una proteína como un marcador que puede indicar si un paciente con cáncer desarrollará una recurrencia de…

[sayholalola]

Don't worry, sweet Lola. One more night and you'll be free. If your seizure monster doesn't show its face tonight then mom is busting you out of here. #epilepsy #seizures #eeg #nr2f1 #bbsoas #🖕🏻day5 #kid #rileyhospitalforchildren

[emmahastwomoms]

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A post shared by Ashlee - Emma's Mommy (@emmahastwomoms)

This video is giving me life right now!! It has taken years for Emma to take a bite of anything on her own. We’ve been working tirelessly with her and her feeding therapist to get her to simply take a bite on her own and lately she has been showing an interest in doing it on her own. Granted we are still on mango purée, I’ll take it. Luckily this Mommy made some bomb guava cupcakes that went wonderfully with some mango whipped cream. We got that “cake smash” we’ve always wanted and I can’t wait to see how much more she will do now that school has started!! ⁣ ⁣ #emmaleimomi #mygirl #thirdbirthday #shesthree #cakesmash #mango #dysphagia #eatingdisorder #oromotortherapy #feedingtherapy #gtube #gtubelife #tubie #cutiewithatubie #nr2f1 #bbsoas #autism #spd #ONH #ONA #CVI https://www.instagram.com/p/CDklAdOAh8E/?igshid=12qcptm650y7

[loverazila]

Breakfast untuk budak comel itu. #aisy #JourneyOfAisy #bbsoas #bbsoasstrong #boschboonstraschaafopticatrophysyndrome #bbsoasawareness #bbsoasworrier #bbsoasfighter #bbsoasfamily #bbsoas_malaysia #nr2f1 #facesofbbsoas #rarediseases #malaysiararedisease #specialneedsmoms #specialneeds #specialneedsfamily #specialneedskids https://www.instagram.com/p/CfvDCOWpqXV/?igshid=NGJjMDIxMWI=

[emmahastwomoms]

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A post shared by Ashlee - Emma's Mommy (@emmahastwomoms)

Last night Emma decided she needed to stand up for 4 seconds unassisted while watching her iPad. Recently she has been attempting to stand up unassisted but due to her lack of depth perception she thinks furniture is much closer than it is and she drops down. It is working through to get her to stand up without holding so we’ll call it her double-edge sword. #emmaleimomi #babysteps #keepmovingforward #standingunassisted #hypotonia #depthperception #visuallyimpaired #nr2f1 #bbsoas #autism #sensoryprocessingdisorder #cvi #onh #ona #developmentaldelay https://www.instagram.com/p/CE43gG6nkns/?igshid=1iuwlqr6hl

[loverazila]

Bila Mak yang feeling owner hospital sendiri ✌🏼. Appointment jam 10 kau sampai dekat jam 11 astagarafirullahhalazim. Tinggal tunggu nak kena halau balik ni 🤣🤣🤣🤣 ampon teacher ini hari semua jalan jem. Sawan betul. Weih raya minggu lagi satu weih. #speechtherapy #HRC #21042022 #aisy #JourneyOfAisy #bbsoas #bbsoasstrong #boschboonstraschaafopticatrophysyndrome #bbsoasawareness #bbsoasworrier #bbsoasfighter #bbsoasfamily #bbsoas_malaysia #nr2f1 #facesofbbsoas #rarediseases #malaysiararedisease #specialneedsmoms #specialneeds #specialneedsfamily #specialneedskids https://www.instagram.com/p/CcmOWyLpZBN/?igshid=NGJjMDIxMWI=

[loverazila]

#RareDiseaseDay #rarediseaseday2022 #28020222 Korang nampak tak??? Suddenly Muka dia pop-up ❤️❤️💃🏻💃🏻💃🏻💃🏻 love it. Terima kasih Allah untuk kurniaan rezeki ni. Alhamdulillah, happy for this journey 😍. #aisy #JourneyOfAisy #bbsoas #bbsoasstrong #boschboonstraschaafopticatrophysyndrome #bbsoasawareness #bbsoasworrier #bbsoasfighter #bbsoasfamily #bbsoas_malaysia #nr2f1 #facesofbbsoas #rarediseases #malaysiararedisease #specialneedsmoms #specialneeds #specialneedsfamily #specialneedskids (at Kuala Lumpur, Malaysia) https://www.instagram.com/p/CaitEYUPchD/?utm_medium=tumblr

[emmahastwomoms]

Virtual School is hard, have less than a month left and she’s very used to her schedule but it’s still hard. Keeping Emma sitting in a chair (without Dora on the iPad) and staying engaged with her class work has been a struggle. Add on barking dogs, both moms still actively working during class sometimes, and throw on the very loud construction happening next door for the past month it’s even harder. There have definitely been days where she only lasts for one or two centers at most, but through it all we have seen so much growth!! Last summer Emma wouldn’t dare touch something as sensory filled as Braille paper, touch paint, or hold a maker for 5 seconds, those were not even emerging skills she had. But she has made progress and now loves Braille paper so much that it lead to her very first time finger painting because she loves the feel of the paper. I know her past therapists have to be proud because before school started she would barely look at a piece of paper, let alone hold one!! ⁣ ⁣ As I sit and make notes for her upcoming IEP meeting these things have been in the forefront of my mind. And I am beyond proud of my girl for the amazing things she has been able to accomplish! ⁣ ⁣ #emmaleimomi #mygirl #specialneeds #developmentalpreschool #nr2f1 #bbsoas #boschboonstraschaafopticatrophysyndrome #CVI #ONA #ONH #sensoryprocessingdisorder #spd #autism #autismspectrum #asd #hypotonia #developmentaldelay #gtube #keepmovingforward #IEP #iepprep #braille #virtualpreschool #foundationforblindchildren #OT #occupationaltherapy #speechtherapy #physicaltherapy #musictherapy #pettherapy https://www.instagram.com/p/COJ-602swIg/?igshid=qb6ltdfw24ja

[emmahastwomoms]

“There is no limit to what we, as women, can accomplish.” - Michelle Obama⁣ ⁣ 𝗛𝗮𝗽𝗽𝘆 𝗜𝗻𝘁𝗲𝗿𝗻𝗮𝘁𝗶𝗼𝗻𝗮𝗹 𝗪𝗼𝗺𝗲𝗻’𝘀 𝗗𝗮𝘆 𝟮𝟬𝟮𝟭⁣ ⁣ Every day I try to be the best woman I can be to help raise this girl to become the best she can be. Emma is the most resilient girl I know and with each challenge that she faces, she squares up and gets over the hill slowly but surely. We know that are limits to what she will be able to do, but we will raise her to see those limits and push as far as she can go. After all ceilings are made of glass, not cement! #emmaleimomi #mygirl #nr2f1 @nr2f1foundation #bbsoas #bbsoasstrong #bbsoaswarrior #bbsoasawareness #cvi #onh #ona #lowvision #gtube #spd #autism #girlswithautism #girlswithfeedingtubes #internationalwomensday #womensday #womenareincredible #girlsrule #girlsareawesome #girlwarrior #specialneeds #glassceilingsaremeanttobebroken https://www.instagram.com/p/CMKw3WJMvN3/?igshid=qqhhq9mueb2t

[emmahastwomoms]

Rare Disease Day is this Sunday, February 28th!! Emma is one of less than 175 people with her genetic mutation and because of that there are so many unknowns and questions for her future. Spreading the word about her rare disease and all other rare diseases is so important for the future!! She will always by My Why. ⁣ ⁣ @nr2f1foundation @rarediseasedayofficial ⁣ ⁣ #emmaleimomi #mywhy #whyicareaboutrare #rarediseaseday #shareyourrare #careaboutrare #nr2f1 #nr2f1foundation #bbsoas #boschboonstraschaafopticatrophysyndrome #ona #opticnerveatrophy #onh #opticnervehypoplasia #cvi #corticalvisualimpairment #strabismus #hypotonia #developmentaldelay #spd #sensoryprocessingdisorder #asd #autism #oromotordysfunction #whitecane #visuallyimpaired #gtube #specialneeds https://www.instagram.com/p/CLsh-y0sY_b/?igshid=1fx07wqbcjgtl

[emmahastwomoms]

It’s #FeedingTubeAwarenessWeek so here are some reasons Emma got her g-tube. At 2 years old, after a year of feeding and speech therapy her feeding was still not progressing and she was falling into the “failure to thrive” category with her weight. We found that she has an abnormal swallow pattern and her severe sensory processing disorder causes her to not want anything beyond liquid in her mouth. The g-tube has allowed us to give her the nutrients she needs and keep her weight steady ❤️⁣ ⁣ #emmaleimomi #gtube #gtubebaby #gtubeawareness #feedingdisorder #dysphagia #oromotordysfunction #hypotonia #nr2f1 #bbsoas #cvi #ona #onh #sensoryprocessingdisorder #autism #autismspectrumdisorder #raredisease #geneticmutation #shareyourrare #countdowntorarediseaseday #careaboutrare https://www.instagram.com/p/CLDD1F4sAE2/?igshid=1rnua2557g8ua