Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Dario Boffelli"'
Autor:
Efren A. Reyes, David Castillo-Azofeifa, Jérémie Rispal, Tomas Wald, Rachel K. Zwick, Brisa Palikuqi, Angela Mujukian, Shervin Rabizadeh, Alexander R. Gupta, James M. Gardner, Dario Boffelli, Zev J. Gartner, Ophir D. Klein
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 20 (2023)
The gastrointestinal tract relies on the production, maturation, and transit of mucin to protect against pathogens and to lubricate the epithelial lining. Although the molecular and cellular mechanisms that regulate mucin production and movement are
Externí odkaz:
https://doaj.org/article/6e8bbf33ec144be58c7912b2853fe1d7
Autor:
Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to d
Externí odkaz:
https://doaj.org/article/9a465491e52f48439eba018a2a0c7a7a
Autor:
Karen H. Y. Wong, Walfred Ma, Chun-Yu Wei, Erh-Chan Yeh, Wan-Jia Lin, Elin H. F. Wang, Jen-Ping Su, Feng-Jen Hsieh, Hsiao-Jung Kao, Hsiao-Huei Chen, Stephen K. Chow, Eleanor Young, Catherine Chu, Annie Poon, Chi-Fan Yang, Dar-Shong Lin, Yu-Feng Hu, Jer-Yuarn Wu, Ni-Chung Lee, Wuh-Liang Hwu, Dario Boffelli, David Martin, Ming Xiao, Pui-Yan Kwok
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
The human reference genome does not fully reflect human genetic diversity. Here, the authors analyse 338 human genome assemblies from diverse populations to identify missing sequences, define non-reference unique insertions and construct a Human Dive
Externí odkaz:
https://doaj.org/article/c8c00ea643e14a5fb06226803d1d0cb0
Autor:
Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/5e3c11cfdf3f4c82bfe28483d4bc97d0
Autor:
Melissa Galinato, Kristen Shimoda, Alexis Aguiar, Fiona Hennig, Dario Boffelli, Michael A. McVoy, Laura Hertel
Publikováno v:
Frontiers in Microbiology, Vol 10 (2019)
Myeloid cells are important sites of lytic and latent infection by human cytomegalovirus (CMV). We previously showed that only a small subset of myeloid cells differentiated from CD34+ hematopoietic stem cells is permissive to CMV replication, unders
Externí odkaz:
https://doaj.org/article/bc5153a894ae4ca19e0fc84b21e08644
Autor:
Jennifer E Chung, Wendy Magis, Jonathan Vu, Seok-Jin Heo, Kirmo Wartiovaara, Mark C Walters, Ryo Kurita, Yukio Nakamura, Dario Boffelli, David I K Martin, Jacob E Corn, Mark A DeWitt
Publikováno v:
PLoS ONE, Vol 14, Iss 1, p e0208237 (2019)
Sickle Cell Disease and ß-thalassemia, which are caused by defective or deficient adult ß-globin (HBB) respectively, are the most common serious genetic blood diseases in the world. Persistent expression of the fetal ß-like globin, also known as
Externí odkaz:
https://doaj.org/article/94cd1619cf894c0da958464cf1a067e6
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e82573 (2013)
Piwi proteins and their small non-coding RNA partners are involved in the maintenance of stem cell character and genome integrity in the male germ cells of mammals. MIWI2, one of the mouse Piwi-like proteins, is expressed in the prepachytene phase of
Externí odkaz:
https://doaj.org/article/45ab350d10a6414189d0dee5f2c323ed
Autor:
Joseph M Dhahbi, Hani Atamna, Dario Boffelli, Wendy Magis, Stephen R Spindler, David I K Martin
Publikováno v:
PLoS ONE, Vol 6, Iss 5, p e20509 (2011)
In cell senescence, cultured cells cease proliferating and acquire aberrant gene expression patterns. MicroRNAs (miRNAs) modulate gene expression through translational repression or mRNA degradation and have been implicated in senescence. We used dee
Externí odkaz:
https://doaj.org/article/b8f8b8f3e29540e89619990bf2e94abc
Autor:
Meromit Singer, Dario Boffelli, Joseph Dhahbi, Alexander Schönhuth, Gary P Schroth, David I K Martin, Lior Pachter
Publikováno v:
PLoS Computational Biology, Vol 6, Iss 8, p e1000888 (2010)
The ability to assay genome-scale methylation patterns using high-throughput sequencing makes it possible to carry out association studies to determine the relationship between epigenetic variation and phenotype. While bisulfite sequencing can determ
Externí odkaz:
https://doaj.org/article/430fa0f4a1654ca18dc77688f172dfb5
Autor:
Judith Kraiczy, Neil McCarthy, Ermanno Malagola, Guodong Tie, Shariq Madha, Dario Boffelli, Daniel E. Wagner, Timothy C. Wang, Ramesh A. Shivdasani
Publikováno v:
Cell Stem Cell. 30:433-449.e8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f686035005056af2df2db37c5b806d95
https://doi.org/10.1016/j.stem.2023.03.004
https://doi.org/10.1016/j.stem.2023.03.004