Kontrabanda[13/03/2025] SMArt Home - webinar Michała Stankiewicza
PeerTube
jobRxivResearch Assistant
Keele University
We are recruiting a Research Assistant to work on an exciting project aimed at defining the role of brown adipose tissue in spinal muscular atrophy.
See the full job description on jobRxiv: https://jobrxiv.org/job/keele-university-27778-research-assistant/
#brownadiposetissue #molecularbiology #mousemodels #Neuromusculardiseases #primarycellculture #spinalmuscularatrophy #Sc...
https://jobrxiv.org/job/keele-university-27778-research-assistant/?fsp_sid=3917
Albert CardonaThat's a massive big deal! Pins motor neuron degeneration on the lack of excitation supplied by its presynaptic interneurons rather than a problem intrinsic to the motor neurons themselves.
This is very much in agreement with findings in the fruit fly over a decade ago, where a key issue in a fly model for SMA (spinal muscular atrophy) is not in the motor neurons themselves but in the interneurons that synapse onto them and in the proprioceptive neurons that supply excitatory feedbacks.
"SMN Is Required for Sensory-Motor Circuit Function in Drosophila", Imlach et al. (McCabe lab) 2012.
http://dx.doi.org/10.1016/j.cell.2012.09.011
Research Assistant
Keele University
We are recruiting a Research Assistant to work on an exciting project aimed at defining the role of brown adipose tissue in spinal muscular atrophy.
See the full job description on jobRxiv: https://jobrxiv.org/job/keele-university-27778-research-assistant/
#brownadiposetissue #molecularbiology #mousemodels #Neuromusculardiseases #primarycellculture #spinalmuscularatrophy #Sc...
https://jobrxiv.org/job/keele-university-27778-research-assistant/?fsp_sid=3469
All Scientifical
SCAB Pharmacy Limited𝗔𝘂𝗴𝘂𝘀𝘁 𝗶𝘀 𝗦𝗽𝗶𝗻𝗮𝗹 𝗠𝘂𝘀𝗰𝘂𝗹𝗮𝗿 𝗔𝘁𝗿𝗼𝗽𝗵𝘆 (𝗦𝗠𝗔) 𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀 𝗠𝗼𝗻𝘁𝗵, dedicated to raising support and knowledge about this rare hereditary neurological disorder. SMA causes the gradual loss of motor neurons in the spinal cord, leading to muscle weakness, difficulty with voluntary movements, swallowing, breathing, and scoliosis. It is a leading genetic cause of infant mortality but can also affect older children and adults in milder forms. Early diagnosis and a combination of treatments—including medication, physical therapy, and supportive care—can help improve quality of life. This month, let’s unite to educate, fund research, support families, and bring hope for a future cure.
#SMAAwarenessMonth #SpinalMuscularAtrophy #RareDiseaseAwareness #MotorNeuronDisease #MuscleWeakness #EarlyDiagnosis #SupportSMAFamilies #GeneticDisorders #ResearchForACure #PhysicalTherapy #HealthcareSupport #SCABPharmacy
Cytology and GeneticsElucidation of the Gene Regulatory Network Related to Spinal Muscular Atrophy - #spinalmuscularatrophy #transcriptionfactors #machinelearning #p53signaling #transcription - https://link.springer.com/article/10.3103/S0095452724060033
Elucidation of the Gene Regulatory Network Related to Spinal Muscular Atrophy - Cytology and Genetics
Abstract Spinal muscular atrophy (SMA) is an autosomal recessive heritable disorder leading to abnormalities and dysfunction of alpha motor neurons, paralysis, and eventual death due to respiratory failure. However, the gene regulatory mechanism related to SMA is still not completely clear. Here, we constructed the gene regulatory network of SMA, in which several SMA-related genes and transcription factors played important roles. In the process, 6544 differentially expressed genes (DEGs) associated with SMA were used and the enrichment analysis and gene regulatory network construction using machine learning was performed. The result showed that, firstly, p53 signaling and DNA replication are closely related to SMA. Then, there is a huge and complicated regulatory network guided by SMA, in which transcription factor SNAPC2, MZF1, and ZNF711 interacted closely with SMA-related genes (SMN1, SMN2) and played key roles in regulating genes of p53 signaling, DNA replication and other SMA-related GO (gene ontology) terms. The transcriptome data was well verified through real-time fluorescence quantitative PCR (RT-qPCR) using the peripheral blood of spinal muscular atrophy patients. Our study revealed the complicated gene regulation network of SMA, and uncover several important SMA-related genes, which it deepens our understanding of SMA-related regulatory mechanisms.
MrMed : Online PharmacyIndia's Risdiplam launch dramatically cuts Spinal Muscular Atrophy (SMA) medicine cost to ₹15K. Learn how this affordable treatment offers new hope for patients.
https://www.mrmed.in/health-library/neurology/risdiplam-india-launch
#Risdiplam #SMA #IndiaHealth #AffordableMedicine #RareDisease #SpinalMuscularAtrophy #HealthNews #NatcoPharma #IndianPharma
wyvernsroseMackenzie’s Mission: With special guest:
*
Jonny Casella
… in conversation with Bill Kable
Before we hear from Jonny about the ground breaking medical mission inspired by little Mackenzie Casella we need to find out about Jonny and Rachael’s journey.
Fortunately not many of us face the tragedy and trauma that Jonny did after deciding to become a father. And having been… http://www.dadsontheair.com.au/shows/mackenzies-mission-2.html?utm_source=dlvr.it&utm_medium=mastodon #MackenziesMission #SMA #SpinalMuscularAtrophy #GeneticResearch #ParentingJourney
Global News HalifaxN.S. teen with spinal muscular atrophy applauds newborn screening at IWK
Van Bernard, 17, says when he was born, little was known or could be done about his diagnosis. His mother says screening could help other families avoid the anxiety they felt.
#globalnews #Health #IWKHealthCentre #SpinalMuscularAtrophy #VanBernard
https://globalnews.ca/news/10709328/spinal-muscular-atrophy-screening-iwk-van-bernard/
Van Bernard, 17, says when he was born, little was known or could be done about his diagnosis. His mother says screening could help other families avoid the anxiety they felt.
#globalnews #Health #IWKHealthCentre #SpinalMuscularAtrophy #VanBernard
https://globalnews.ca/news/10709328/spinal-muscular-atrophy-screening-iwk-van-bernard/
