Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Alina Piekna"'
Autor:
Deivid C. Rodrigues, Marat Mufteev, Kyoko E. Yuki, Ashrut Narula, Wei Wei, Alina Piekna, Jiajie Liu, Peter Pasceri, Olivia S. Rissland, Michael D. Wilson, James Ellis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the transcriptional modulator MECP2. Here, the authors measured transcription rate and mRNA half-life changes in RTT patient-derived neurons to show transcription rate buffer
Externí odkaz:
https://doaj.org/article/097209b23fed40c18a9738ecdd5640cd
Autor:
Muhammad Faheem, Eric Deneault, Roumiana Alexandrova, Deivid C. Rodrigues, Giovanna Pellecchia, Carole Shum, Mehdi Zarrei, Alina Piekna, Wei Wei, Jennifer L. Howe, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, P. Joel Ross, Clarrisa A. Bradley, James Ellis, Stephen W. Scherer
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-12 (2023)
Abstract Background The X-linked PTCHD1 locus is strongly associated with autism spectrum disorder (ASD). Males who carry chromosome microdeletions of PTCHD1 antisense long non-coding RNA (PTCHD1-AS)/DEAD-box helicase 53 (DDX53) have ASD, or a sub-cl
Externí odkaz:
https://doaj.org/article/ad5d028dd05343348ea7357073f240f8
Autor:
Rebecca S. F. Mok, Wenbo Zhang, Taimoor I. Sheikh, Kartik Pradeepan, Isabella R. Fernandes, Leah C. DeJong, Gabriel Benigno, Matthew R. Hildebrandt, Marat Mufteev, Deivid C. Rodrigues, Wei Wei, Alina Piekna, Jiajie Liu, Alysson R. Muotri, John B. Vincent, Lyle Muller, Julio Martinez-Trujillo, Michael W. Salter, James Ellis
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-16 (2022)
Abstract 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 global transcriptional regulator. Mutations in the methyl-CpG binding domain (MBD) o
Externí odkaz:
https://doaj.org/article/d539f76d9ee84f05a36dd38c22599078
Autor:
Matthew R. Hildebrandt, Miriam S. Reuter, Wei Wei, Naeimeh Tayebi, Jiajie Liu, Sazia Sharmin, Jaap Mulder, L. Stephen Lesperance, Patrick M. Brauer, Rebecca S.F. Mok, Caroline Kinnear, Alina Piekna, Asli Romm, Jennifer Howe, Peter Pasceri, Guoliang Meng, Matthew Rozycki, Deivid C. Rodrigues, Elisa C. Martinez, Michael J. Szego, Juan C. Zúñiga-Pflücker, Michele K. Anderson, Steven A. Prescott, Norman D. Rosenblum, Binita M. Kamath, Seema Mital, Stephen W. Scherer, James Ellis
Publikováno v:
Stem Cell Reports, Vol 13, Iss 6, Pp 1126-1141 (2019)
Summary: Induced pluripotent stem cells (iPSC) derived from healthy individuals are important controls for disease-modeling studies. Here we apply precision health to create a high-quality resource of control iPSCs. Footprint-free lines were reprogra
Externí odkaz:
https://doaj.org/article/7ac621f9b435435cbc07d7300e6d6051
Autor:
Deivid C. Rodrigues, Marat Mufteev, Robert J. Weatheritt, Ugljesa Djuric, Kevin C.H. Ha, P. Joel Ross, Wei Wei, Alina Piekna, Maria A. Sartori, Loryn Byres, Rebecca S.F. Mok, Kirill Zaslavsky, Peter Pasceri, Phedias Diamandis, Quaid Morris, Benjamin J. Blencowe, James Ellis
Publikováno v:
Cell Reports, Vol 30, Iss 12, Pp 4179-4196.e11 (2020)
Summary: Regulation of translation during human development is poorly understood, and its dysregulation is associated with Rett syndrome (RTT). To discover shifts in mRNA ribosomal engagement (RE) during human neurodevelopment, we use parallel transl
Externí odkaz:
https://doaj.org/article/2c9e30222fb54871afee36d560e1a68c
Autor:
Eric Deneault, Sean H. White, Deivid C. Rodrigues, P. Joel Ross, Muhammad Faheem, Kirill Zaslavsky, Zhuozhi Wang, Roumiana Alexandrova, Giovanna Pellecchia, Wei Wei, Alina Piekna, Gaganjot Kaur, Jennifer L. Howe, Vickie Kwan, Bhooma Thiruvahindrapuram, Susan Walker, Anath C. Lionel, Peter Pasceri, Daniele Merico, Ryan K.C. Yuen, Karun K. Singh, James Ellis, Stephen W. Scherer
Publikováno v:
Stem Cell Reports, Vol 11, Iss 5, Pp 1211-1225 (2018)
Summary: Autism spectrum disorder (ASD) is phenotypically and genetically heterogeneous. We present a CRISPR gene editing strategy to insert a protein tag and premature termination sites creating an induced pluripotent stem cell (iPSC) knockout resou
Externí odkaz:
https://doaj.org/article/ed565f4bc9134ec99bc3339f9bae9c35
Autor:
Eric Deneault, Muhammad Faheem, Sean H White, Deivid C Rodrigues, Song Sun, Wei Wei, Alina Piekna, Tadeo Thompson, Jennifer L Howe, Leon Chalil, Vickie Kwan, Susan Walker, Peter Pasceri, Frederick P Roth, Ryan KC Yuen, Karun K Singh, James Ellis, Stephen W Scherer
Publikováno v:
eLife, Vol 8 (2019)
Induced pluripotent stem cell (iPSC)-derived neurons are increasingly used to model Autism Spectrum Disorder (ASD), which is clinically and genetically heterogeneous. To study the complex relationship of penetrant and weaker polygenic risk variants t
Externí odkaz:
https://doaj.org/article/985021e3ed064ed49d8ce14418bde9a2
Autor:
Deivid C. Rodrigues, Dae-Sung Kim, Guang Yang, Kirill Zaslavsky, Kevin C.H. Ha, Rebecca S.F. Mok, P. Joel Ross, Melody Zhao, Alina Piekna, Wei Wei, Benjamin J. Blencowe, Quaid Morris, James Ellis
Publikováno v:
Cell Reports, Vol 17, Iss 3, Pp 720-734 (2016)
A progressive increase in MECP2 protein levels is a crucial and precisely regulated event during neurodevelopment, but the underlying mechanism is unclear. We report that MECP2 is regulated post-transcriptionally during in vitro differentiation of hu
Externí odkaz:
https://doaj.org/article/55dd7c868803470c80fd0349885b27c3
Autor:
Ugljesa Djuric, Aaron Y.L. Cheung, Wenbo Zhang, Rebecca S. Mok, Wesley Lai, Alina Piekna, Jason A. Hendry, P. Joel Ross, Peter Pasceri, Dae-Sung Kim, Michael W. Salter, James Ellis
Publikováno v:
Neurobiology of Disease, Vol 76, Iss , Pp 37-45 (2015)
MECP2 mutations cause the X-linked neurodevelopmental disorder Rett Syndrome (RTT) by consistently altering the protein encoded by the MECP2e1 alternative transcript. While mutations that simultaneously affect both MECP2e1 and MECP2e2 isoforms have b
Externí odkaz:
https://doaj.org/article/e0838b9791d644dcbf603d7327d5b907
Autor:
Marat Mufteev, Deivid C. Rodrigues, Kyoko E. Yuki, Ashrut Narula, Wei Wei, Alina Piekna, Jiajie Liu, Peter Pasceri, Olivia S. Rissland, Michael D. Wilson, James Ellis
The contribution of mRNA half-life is commonly overlooked when examining changes in mRNA abundance during development. mRNA levels of some genes are regulated by transcription rate only, but others may be regulated by mRNA half-life only shifts. Furt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d2ca43de6cbb75fa4382705cfa178b7
https://doi.org/10.1101/2023.03.01.530249
https://doi.org/10.1101/2023.03.01.530249
