Search Results - "Mok, Rebecca S. F."

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations by Mok, Rebecca S. F., Zhang, Wenbo, Sheikh, Taimoor I., Pradeepan, Kartik, Fernandes, Isabella R., DeJong, Leah C., Benigno, Gabriel, Hildebrandt, Matthew R., Mufteev, Marat, Rodrigues, Deivid C., Wei, Wei, Piekna, Alina, Liu, Jiajie, Muotri, Alysson R., Vincent, John B., Muller, Lyle, Martinez-Trujillo, Julio, Salter, Michael W., Ellis, James

“…Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by heterozygous loss-of-function mutations in the X-linked gene MECP2 that is a…”
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Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells by Ross, P Joel, Mok, Rebecca S F, Smith, Brandon S, Rodrigues, Deivid C, Mufteev, Marat, Scherer, Stephen W, Ellis, James

“…Genetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly…”
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Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS by Ross, P. Joel, Zhang, Wen-Bo, Mok, Rebecca S.F., Zaslavsky, Kirill, Deneault, Eric, D’Abate, Lia, Rodrigues, Deivid C., Yuen, Ryan K.C., Faheem, Muhammad, Mufteev, Marat, Piekna, Alina, Wei, Wei, Pasceri, Peter, Landa, Rebecca J., Nagy, Andras, Varga, Balazs, Salter, Michael W., Scherer, Stephen W., Ellis, James

“…The Xp22.11 locus that encompasses PTCHD1, DDX53, and the long noncoding RNA PTCHD1-AS is frequently disrupted in male subjects with autism spectrum disorder…”
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Shifts in Ribosome Engagement Impact Key Gene Sets in Neurodevelopment and Ubiquitination in Rett Syndrome by Rodrigues, Deivid C., Mufteev, Marat, Weatheritt, Robert J., Djuric, Ugljesa, Ha, Kevin C.H., Ross, P. Joel, Wei, Wei, Piekna, Alina, Sartori, Maria A., Byres, Loryn, Mok, Rebecca S.F., Zaslavsky, Kirill, Pasceri, Peter, Diamandis, Phedias, Morris, Quaid, Blencowe, Benjamin J., Ellis, James

“…Regulation of translation during human development is poorly understood, and its dysregulation is associated with Rett syndrome (RTT). To discover shifts in…”
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MECP2 Is Post-transcriptionally Regulated during Human Neurodevelopment by Combinatorial Action of RNA-Binding Proteins and miRNAs by Rodrigues, Deivid C., Kim, Dae-Sung, Yang, Guang, Zaslavsky, Kirill, Ha, Kevin C.H., Mok, Rebecca S.F., Ross, P. Joel, Zhao, Melody, Piekna, Alina, Wei, Wei, Blencowe, Benjamin J., Morris, Quaid, Ellis, James

“…A progressive increase in MECP2 protein levels is a crucial and precisely regulated event during neurodevelopment, but the underlying mechanism is unclear. We…”
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Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation by Hildebrandt, Matthew R., Reuter, Miriam S., Wei, Wei, Tayebi, Naeimeh, Liu, Jiajie, Sharmin, Sazia, Mulder, Jaap, Lesperance, L. Stephen, Brauer, Patrick M., Mok, Rebecca S.F., Kinnear, Caroline, Piekna, Alina, Romm, Asli, Howe, Jennifer, Pasceri, Peter, Meng, Guoliang, Rozycki, Matthew, Rodrigues, Deivid C., Martinez, Elisa C., Szego, Michael J., Zúñiga-Pflücker, Juan C., Anderson, Michele K., Prescott, Steven A., Rosenblum, Norman D., Kamath, Binita M., Mital, Seema, Scherer, Stephen W., Ellis, James

“…Induced pluripotent stem cells (iPSC) derived from healthy individuals are important controls for disease-modeling studies. Here we apply precision health to…”
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