Zobrazeno 1 - 10
of 13
pro vyhledávání: '"M. Bram Kuijer"'
Autor:
Hyeong-Min Lee, M. Bram Kuijer, Nerea Ruiz Blanes, Ellen P. Clark, Megumi Aita, Lorena Galiano Arjona, Agnieszka Kokot, Noah Sciaky, Jeremy M. Simon, Sanchita Bhatnagar, Benjamin D. Philpot, Andrea Cerase
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-11 (2020)
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological
Externí odkaz:
https://doaj.org/article/f1d6c74a535f4002b4d27d4a54f485ae
Autor:
Hyeong-Min Lee, Ellen P. Clark, M. Bram Kuijer, Mark Cushman, Yves Pommier, Benjamin D. Philpot
Publikováno v:
Molecular Autism, Vol 9, Iss 1, Pp 1-10 (2018)
Abstract Background Angelman syndrome (AS) is a severe neurodevelopmental disorder lacking effective therapies. AS is caused by mutations in ubiquitin protein ligase E3A (UBE3A), which is genomically imprinted such that only the maternally inherited
Externí odkaz:
https://doaj.org/article/c541caeabe464ea5a476b5d7d069d82a
Publikováno v:
Forming the Future ISBN: 9783030753801
Controlling the microstructure of components is of interest to achieve optimal final part properties, i.e., materials by design. The manufacturing process itself can affect a material’s characteristics by changing the microstructure. For example, p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::792cd0e768689241b26c9b68b08284bd
https://doi.org/10.1007/978-3-030-75381-8_155
https://doi.org/10.1007/978-3-030-75381-8_155
Autor:
Agnieszka Kokot, Noah Sciaky, Jeremy M. Simon, Hyeong-Min Lee, Lorena Galiano Arjona, Nerea Ruiz Blanes, M. Bram Kuijer, Andrea Cerase, Benjamin D. Philpot, Ellen P. Clark, Sanchita Bhatnagar, Megumi Aita
Publikováno v:
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-11 (2020)
Journal of neurodevelopmental disorders, vol 12, iss 1
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-11 (2020)
Journal of neurodevelopmental disorders, vol 12, iss 1
Background Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological defects.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1756507511338468812543b6ec88c8da
http://hdl.handle.net/11568/1121003
http://hdl.handle.net/11568/1121003
Autor:
Hyeong-Min Lee, M. Bram Kuijer, Blanes, Nerea Ruiz, Clark, Ellen P., Aita, Megumi, Arjona, Lorena Galiano, Kokot, Agnieszka, Sciaky, Noah, Simon, Jeremy M., Sanchita Bhatnagar, Philpot, Benjamin D., Cerase, Andrea
Additional file 1: Supplementary figure 1. Compound validation under different treatment regimens. A) AG490 validation in 6-well plate format. Relative Luminescence Units (RLU) is shown in function of the drug treatment for the clone Xi8. B) qRT-PCR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15a84c8c80bd061be84b65e28e2999d9
Autor:
Hyeong-Min Lee, M. Bram Kuijer, Blanes, Nerea Ruiz, Clark, Ellen P., Aita, Megumi, Arjona, Lorena Galiano, Kokot, Agnieszka, Sciaky, Noah, Simon, Jeremy M., Sanchita Bhatnagar, Philpot, Benjamin D., Cerase, Andrea
Additional file 3: Supplementary Table 1. This table shows the libraries used in this screen.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4d9b3ee9b69be6e59a83ad47ab0630e
Autor:
Mark Cushman, Ellen P. Clark, M. Bram Kuijer, Yves Pommier, Benjamin D. Philpot, Hyeong Min Lee
Publikováno v:
Molecular Autism, Vol 9, Iss 1, Pp 1-10 (2018)
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder lacking effective therapies. AS is caused by mutations in ubiquitin protein ligase E3A (UBE3A), which is genomically imprinted such that only the maternally inherited copy is e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::602ffe97ec13969dc2c4b34d1fe9199b
https://doi.org/10.1186/s13229-018-0228-2
https://doi.org/10.1186/s13229-018-0228-2
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Autor:
Lee, Hyeong-Min1, Clark, Ellen P.1, Kuijer, M. Bram1, Cushman, Mark2, Pommier, Yves3, Philpot, Benjamin D.1,4 bphilpot@med.unc.edu
Publikováno v:
Molecular Autism. 8/17/2018, Vol. 9 Issue 1, pN.PAG-N.PAG. 1p.
A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance.
Autor:
Lee, Hyeong-Min, Kuijer, M. Bram, Ruiz Blanes, Nerea, Clark, Ellen P., Aita, Megumi, Galiano Arjona, Lorena, Kokot, Agnieszka, Sciaky, Noah, Simon, Jeremy M., Bhatnagar, Sanchita, Philpot, Benjamin D., Cerase, Andrea
Publikováno v:
Journal of Neurodevelopmental Disorders; 11/10/2020, Vol. 12 Issue 1, pN.PAG-N.PAG, 1p