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Anti-microRNA: la nuova speranza di cura per la sindrome di Rett?
La sindrome di Rett è una condizione genetica che colpisce principalmente le ragazze. È causata da un gene MECP2 difettoso, situato sul cromosoma X. Questo gene contiene le istruzioni per la sintesi della proteina MeCP2. Le ragazze con sindrome di Rett potrebbero avere una quantità insufficiente di questa proteina o la loro proteina potrebbe non funzionare correttamente. Questa carenza proteica…
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Antisense oligonucleotides as a feasible therapy to treat MECP2 duplication syndrome
Antisense oligonucleotides as a feasible therapy to treat MECP2 duplication syndrome
Credit: CC0 Public Domain Many cognitive neurodevelopmental disorders are a result of too many or too few copies of certain genes or chromosomes. To date, no treatment options exist for this class of disorders. MECP2 duplication syndrome (MDS) is one such disorder that primarily affects boys and results from a duplication spanning the methyl-CpG binding protein 2 (MECP2) locus located on the X…
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Un nuovo progetto di ricerca sulle malattie legate a Mecp2
Un nuovo progetto di ricerca sulle malattie legate a Mecp2
Il nostro laboratorio, racconta Angelisa Frasca, si occupa di studiare la sindrome di Rett e le patologie legate a mutazione nel gene MECP2. Si tratta di una serie di patologie del neurosviluppo prevalentemente femminili, che affliggono un individuo ogni 4.000 in tutto il mondo.
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MECP2 Duplication Syndrome is a rare genetic disorder that causes devastating impacts on those affected by it. For boys it means they are medically fragile for life. Any abilities to walk or talk are usually lost by the teenage years as a result of frequent seizures. They eventually succumb to infections in the lungs or pneumonia. For girls, the research is lacking but they can be affected anywhere from mildly to severely. As a result, Hailey's future is unknown but there is a chance that this research will cure her, and soon. So please support this initiative if you can and help raise awareness for this terrible disorder. As it is so rare, funds are sparse but it is such a worthy cause. ❤️ #donate #pleasedonate #mecp2 #donatenow #donatetoday #savelives #gelmomentbykate #specialneedsmom #momsofinstagram #specialneedslife #momof2 #help #helpus #findacure #rarediseaseawareness #raredisease #rarediseases #youcanhelp #weneedyourhelp #momanddaughter #fightingforacure #goodcause #goodcauses #awareness #love #amazing #peopleofottawa #mydaughter #aware (at Ottawa, Ontario)
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El autismo podría no ser sólo un trastorno del cerebro
El autismo podría no ser sólo un trastorno del cerebro
Los trastornos del espectro autista (TEA) son un grupo de complejos fallos del desarrollo cerebral. Estos se caracterizan por dificultades en la comunicación y la interacción social y por un repertorio de intereses y actividades restringido y repetitivo.
Los trastornos del espectro autista (TEA) son un grupo de complejos trastornos del desarrollo cerebral. Estos trastornos se caracterizan por…
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ya weon, estudiaré. adios
