Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Sara Bizzotto"'
Autor:
Sara Bizzotto
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Every cell in the human brain possesses a unique genome that is the product of the accumulation of somatic mutations starting from the first postzygotic cell division and continuing throughout life. Somatic mosaicism in the human brain has been the f
Externí odkaz:
https://doaj.org/article/c15fe62bf405495d9e5fff53201b03ab
Autor:
Yifan Wang, Taejeong Bae, Jeremy Thorpe, Maxwell A. Sherman, Attila G. Jones, Sean Cho, Kenneth Daily, Yanmei Dou, Javier Ganz, Alon Galor, Irene Lobon, Reenal Pattni, Chaggai Rosenbluh, Simone Tomasi, Livia Tomasini, Xiaoxu Yang, Bo Zhou, Schahram Akbarian, Laurel L. Ball, Sara Bizzotto, Sarah B. Emery, Ryan Doan, Liana Fasching, Yeongjun Jang, David Juan, Esther Lizano, Lovelace J. Luquette, John B. Moldovan, Rujuta Narurkar, Matthew T. Oetjens, Rachel E. Rodin, Shobana Sekar, Joo Heon Shin, Eduardo Soriano, Richard E. Straub, Weichen Zhou, Andrew Chess, Joseph G. Gleeson, Tomas Marquès-Bonet, Peter J. Park, Mette A. Peters, Jonathan Pevsner, Christopher A. Walsh, Daniel R. Weinberger, Brain Somatic Mosaicism Network, Flora M. Vaccarino, John V. Moran, Alexander E. Urban, Jeffrey M. Kidd, Ryan E. Mills, Alexej Abyzov
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-32 (2021)
Abstract Background Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. However, detecting mosai
Externí odkaz:
https://doaj.org/article/ed8ec2a7cb594e94ba5848bb9fd9be5a
Autor:
Ryan N. Doan, Michael B. Miller, Sonia N. Kim, Rachel E. Rodin, Javier Ganz, Sara Bizzotto, Katherine S. Morillo, August Yue Huang, Reethika Digumarthy, Zachary Zemmel, Christopher A. Walsh
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-13 (2021)
Abstract Background Mosaic mutations contribute to numerous human disorders. As such, the identification and precise quantification of mosaic mutations is essential for a wide range of research applications, clinical diagnoses, and early detection of
Externí odkaz:
https://doaj.org/article/de03a89522464b34b6f79cef29533b42
Autor:
H. Westley Phillips, Xiaoxu Yang, Camila Araújo Bernardino Garcia, Sara Bizzotto, Keng Ioi Vong, Zhen Li, Catharina Donkels, Stéphanie Baulac, Wilson Araujo Silva Jr, Sara Baldassari
Publikováno v:
Nature Genetics. 55:209-220
Autor:
Alissa M. D’Gama, Mollie B. Woodworth, Amer A. Hossain, Sara Bizzotto, Nicole E. Hatem, Christopher M. LaCoursiere, Imad Najm, Zhong Ying, Edward Yang, A. James Barkovich, David J. Kwiatkowski, Harry V. Vinters, Joseph R. Madsen, Gary W. Mathern, Ingmar Blümcke, Annapurna Poduri, Christopher A. Walsh
Publikováno v:
Cell Reports, Vol 21, Iss 13, Pp 3754-3766 (2017)
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes in FCD/HME brain tissue identified an etiology in 27 of 66 cases
Externí odkaz:
https://doaj.org/article/6b8cdd42f6cb4f5e9535741ef54a0e4e
Autor:
Christopher A. Walsh, Eunjung Alice Lee, Keith L. Ligon, Zinan Zhou, Junho Kim, Taehwan Shin, Connor J. Kenny, Ryan N. Doan, Sara Bizzotto, Basheer Becerra, Eduardo A. Maury, Javier Ganz
Although oncogenic mutations have been found in nondiseased, proliferative nonneural tissues, their prevalence in the human brain is unknown. Targeted sequencing of genes implicated in brain tumors in 418 samples derived from 110 individuals of varyi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b4a3b60c4603eef9fa601b3dd2d9ac5
https://doi.org/10.1158/2159-8290.c.6549419
https://doi.org/10.1158/2159-8290.c.6549419
Autor:
Christopher A. Walsh, Eunjung Alice Lee, Keith L. Ligon, Zinan Zhou, Junho Kim, Taehwan Shin, Connor J. Kenny, Ryan N. Doan, Sara Bizzotto, Basheer Becerra, Eduardo A. Maury, Javier Ganz
Supplementary methods and figures.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ab71f7c8214f073ec415f6b72e593a
https://doi.org/10.1158/2159-8290.22540592
https://doi.org/10.1158/2159-8290.22540592
Autor:
Christopher A. Walsh, Eunjung Alice Lee, Keith L. Ligon, Zinan Zhou, Junho Kim, Taehwan Shin, Connor J. Kenny, Ryan N. Doan, Sara Bizzotto, Basheer Becerra, Eduardo A. Maury, Javier Ganz
Supplementary information related to panel sequencing.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d865f897bd3f76bbc29ff28a1e13fd9
https://doi.org/10.1158/2159-8290.22540589
https://doi.org/10.1158/2159-8290.22540589
Autor:
Javier Ganz, Lovelace J. Luquette, Sara Bizzotto, Craig L. Bohrson, Hu Jin, Michael B. Miller, Zinan Zhou, Alon Galor, Peter J. Park, Christopher A. Walsh
Publikováno v:
bioRxiv
SUMMARYCharacterizing the mechanisms of somatic mutations in the brain is important for understanding aging and disease, but little is known about the mutational patterns of different cell types. We performed whole-genome sequencing of 71 oligodendro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16532316eb4bf25771b34b73f12639bd
https://doi.org/10.1101/2023.01.14.523958
https://doi.org/10.1101/2023.01.14.523958
Publikováno v:
Nature Biotechnology.