I just have to share my feelings and thought. You really manage the discription, in a wonderful visuals and explaintion. I was so fascinated and glued into frozen , to learn more.
Glad this is explained a bit more about boys we just lost a boy within 10 months at Sheffield teaching hospital any help or research would be gladly shared
Very interesting Lecture from an interesting and beautiful Lady. Thanks for the explanation! I would like to see at 27:53 the WT in comparison to null and duplication.
Perhaps the MeCP2 protein frequently inhibits transcription of transcription-inhibiting proteins, then when you take it away certain genes end up increasing in their transcription.
Dr. Zoghbi, the formation of stop codons due to the inadvertent methylation and deamination of cytosines in CAG triplets could be a cause or part of the mechanism that causes a number of neurologic diseases, when truncated proteins hinder cells functions. Perhaps the effects of decitabine, for one, should be investigated. Thanks for your work.
Perhaps the gene leads to expression of a receptor protein that is necessary for normal phenotype but when expressed in large quantities leads to too much signaling, leading to downregulation of the signaling pathway. And perhaps gene dose is important here because maybe you can’t make the “Goldilocks” amount that doesn’t lead to excessive downregulation if a signal to make some always leads to 1.5x expression. After a while, perhaps key cells with the appropriate enhancers activated by other tissue-specific tfs apoptose in response to the aberrant signaling and you end up with a deficiency in gene expression in the appropriate tissues even in duplication cases.
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Very interesting lecture.
Great work Dr. Huda Zoghbi. 👏
I just have to share my feelings and thought. You really manage the discription, in a wonderful visuals and explaintion. I was so fascinated and glued into frozen , to learn more.
Thanks for this excellent presentation. I learned a lot.
Glad this is explained a bit more about boys we just lost a boy within 10 months at Sheffield teaching hospital any help or research would be gladly shared
excellent presentation
Very interesting and clear presentation
Great lecture
Huda Zgohbi looks pretty happy in the thumbnail
اهلا بعلماء العرب وبلاد الشام
Very interesting Lecture from an interesting and beautiful Lady. Thanks for the explanation! I would like to see at 27:53 the WT in comparison to null and duplication.
My rett child often becomes hyper irritable, hyper ventilating and doesn’t sleep. If anybody experienced and managed such scenario, kindly help
Perhaps the MeCP2 protein frequently inhibits transcription of transcription-inhibiting proteins, then when you take it away certain genes end up increasing in their transcription.
Noice theory
Dr. Zoghbi, the formation of stop codons due to the inadvertent methylation and deamination of cytosines in CAG triplets could be a cause or part of the mechanism that causes a number of neurologic diseases, when truncated proteins hinder cells functions. Perhaps the effects of decitabine, for one, should be investigated. Thanks for your work.
Perhaps the gene leads to expression of a receptor protein that is necessary for normal phenotype but when expressed in large quantities leads to too much signaling, leading to downregulation of the signaling pathway. And perhaps gene dose is important here because maybe you can’t make the “Goldilocks” amount that doesn’t lead to excessive downregulation if a signal to make some always leads to 1.5x expression. After a while, perhaps key cells with the appropriate enhancers activated by other tissue-specific tfs apoptose in response to the aberrant signaling and you end up with a deficiency in gene expression in the appropriate tissues even in duplication cases.
Or perhaps excessive quantities of MECP2 act as their own competitive inhibitor for a key activating event.
Doctor, can I treat my child, who has Rhett Sandrumphy, an American?
And how we can't help she
👏
I try to imagine the relentless determination required to walk up and down a chromosome looking for a specific gene, before WGS existed.