Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Allan Acab"'
Autor:
Cleber A Trujillo, Jason W Adams, Priscilla D Negraes, Cassiano Carromeu, Leon Tejwani, Allan Acab, Ben Tsuda, Charles A Thomas, Neha Sodhi, Katherine M Fichter, Sarah Romero, Fabian Zanella, Terrence J Sejnowski, Henning Ulrich, Alysson R Muotri
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 1, Pp n/a-n/a (2021)
Abstract Duplication or deficiency of the X‐linked MECP2 gene reliably produces profound neurodevelopmental impairment. MECP2 mutations are almost universally responsible for Rett syndrome (RTT), and particular mutations and cellular mosaicism of M
Externí odkaz:
https://doaj.org/article/62a5f92686b74314967f1f52b82ce189
Autor:
Sun Hee Rosenthal, Anna Gerasimova, Charles Ma, Hai-Rong Li, Andrew Grupe, Hansook Chong, Allan Acab, Alla Smolgovsky, Renius Owen, Christopher Elzinga, Rebecca Chen, Daniel Sugganth, Tracey Freitas, Jennifer Graham, Kristen Champion, Anindya Bhattacharya, Frederick Racke, Felicitas Lacbawan
Publikováno v:
PLoS ONE, Vol 16, Iss 4, p e0243683 (2021)
Identification of genomic mutations by molecular testing plays an important role in diagnosis, prognosis, and treatment of myeloid neoplasms. Next-generation sequencing (NGS) is an efficient method for simultaneous detection of clinically significant
Externí odkaz:
https://doaj.org/article/633ed3c69d0d4696a077ebd6a2ff758a
Autor:
Renius Owen, Daniel Sugganth, Frederick Racke, Jennifer Graham, Kristen Champion, Charles Ma, Anna Gerasimova, Allan Acab, Christopher Elzinga, Andrew Grupe, Hai-Rong Li, Rebecca Chen, Alla Smolgovsky, Anindya Bhattacharya, Sun Hee Rosenthal, Tracey Freitas, Felicitas Lacbawan, Hansook Chong
Publikováno v:
PLoS ONE
PLoS ONE, Vol 16, Iss 4, p e0243683 (2021)
PLoS ONE, Vol 16, Iss 4, p e0243683 (2021)
Identification of genomic mutations by molecular testing plays an important role in diagnosis, prognosis, and treatment of myeloid neoplasms. Next-generation sequencing (NGS) is an efficient method for simultaneous detection of clinically significant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72fc498645a3d304abd25c75df872f29
https://doi.org/10.1101/2020.11.30.403634
https://doi.org/10.1101/2020.11.30.403634
Autor:
Michael F. Walker, Xiang Q. Gu, Stephen Sanders, Allan Acab, Nicholas C. Spitzer, Dhiraj K. Pradhan, Daniele Yumi Sunaga, Guo Li Ming, Richard P. Lifton, Alysson R. Muotri, Gabriel G. Haddad, Matthew W. State, Weizhen Ji, Karina Griesi-Oliveira, Estevão Vadasz, Hongjun Song, Yanelli Nunez, Maria C. Marchetto, Abha R. Gupta, Maria Rita Passos-Bueno, Xavier Nicol, Thanathom Chailangkarn, Thomas V. Fernandez, John D. Murdoch, Alexander Dietrich
Publikováno v:
Molecular psychiatry
An increasing number of genetic variants have been implicated in autism spectrum disorders (ASDs), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocat
Autor:
Hong Z. Yin, Stephen Yu, John H. Weiss, Richard Wu, Benjamin J. Chiang, Anna Tao, Allan Acab, Joe Liu, Cheng-I Hsu
Publikováno v:
Experimental Neurology. 261:1-9
The neurotoxin beta-N-methylamino-L-alanine (BMAA) was first identified as a “toxin of interest” in regard to the amyotrophic lateral sclerosis–Parkinsonism Dementia Complex of Guam (ALS/PDC); studies in recent years highlighting widespread env
Autor:
Alla Smolgovsky, Anna Gerasimova, Felicitas Lacbawan, Allan Acab, Quoclinh Nguyen, Hai-Rong Li, Christopher Elzinga, Hansook Chong, Andrew Grupe, Frederick Racke, Xi Zhang, Rebecca Chen, Kevin Qu, Renius Owen, Joseph J. Catanese, David Wolfson, Sun Hee Rosenthal
Publikováno v:
Journal of Clinical Oncology. 37:e18526-e18526
e18526 Background: Molecular profiling can help diagnose, classify, and guide treatment of myeloid neoplasms. Next generation sequencing (NGS) is a powerful platform that can facilitate identification of actionable genetic alterations in multiple gen
Autor:
Shivanjali Joshi-Barr, Adam J. Engler, Beatriz C.G. Freitas, Hao Qian, Cleber A. Trujillo, Zhen Ning Zhang, Jessica H. Wen, Allan Acab, Jacques Lux, Roberto H. Herai, Alysson R. Muotri, Viet Anh Nguyen Huu, Adah Almutairi, Jerome V. Karpiak, Xiang-Dong Fu
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 113(12)
Probing a wide range of cellular phenotypes in neurodevelopmental disorders using patient-derived neural progenitor cells (NPCs) can be facilitated by 3D assays, as 2D systems cannot entirely recapitulate the arrangement of cells in the brain. Here,
Publikováno v:
Current Opinion in Neurobiology. 22:785-790
The cellular and molecular mechanisms of neurodevelopmental conditions such as autism spectrum disorders have been studied intensively for decades. The unavailability of live patient neurons for research, however, has represented a major obstacle in
Autor:
Alysson R. Muotri, Allan Acab
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 12(3)
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders sharing a core set of symptoms, including impaired social interaction, language deficits, and repetitive behaviors. While ASDs are highly heritable and demonst
Autor:
June-Anne Gold, Vincent Procaccio, Virginia Kimonis, Jouni Vesa, John H. Weiss, Prasanth Potluri, Weiwei Fan, Allan Acab, Yong-hui Jiang, Hailing Su, Douglas C. Wallace, Pinar Coskun
Publikováno v:
Neuroscience Letters
Neuroscience Letters, 2011, 487 (2), pp.129-33. ⟨10.1016/j.neulet.2009.06.079⟩
Neuroscience Letters, 2011, 487 (2), pp.129-33. ⟨10.1016/j.neulet.2009.06.079⟩
International audience; Angelman syndrome (AS) is a severe neurological disorder caused by a deficiency of ubiquitin protein ligase E3A (UBE3A), but the pathophysiology of the disease remains unknown. We now report that in the brains of AS mice in wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1b64ad5c96d25342d497f813cff5719
https://europepmc.org/articles/PMC2888840/
https://europepmc.org/articles/PMC2888840/