Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Prachi Kothiyal"'
Autor:
Irina Arnaoutova, Yvonne Aratyn-Schaus, Lisa Zhang, Michael S. Packer, Hung-Dar Chen, Cheol Lee, Sudeep Gautam, Francine M. Gregoire, Dominique Leboeuf, Steven Boule, Thomas P. Fernandez, Victoria Huang, Lo-I Cheng, Genesis Lung, Brianna Bannister, Jeremy Decker, Thomas Leete, Lan S. Shuang, Caroline Bock, Prachi Kothiyal, Phil Grayson, Ka W. Mok, Jeffrey J. Quinn, Lauren Young, Luis Barrera, Giuseppe Ciaramella, Brian C. Mansfield, Janice Y. Chou
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Glycogen storage disease type-Ia patients, deficient in the G6PC1 gene encoding glucose-6-phosphatase-α, lack blood glucose control, resulting in life-threatening hypoglycemia. Here we show our humanized mouse model, huR83C, carrying the pa
Externí odkaz:
https://doaj.org/article/1c38d0d8440d47f7a99b6df3ac6049c0
Autor:
Hari Ilangovan, Prachi Kothiyal, Katherine A. Hoadley, Robin Elgart, Greg Eley, Parastou Eslami
Publikováno v:
npj Microgravity, Vol 10, Iss 1, Pp 1-11 (2024)
Abstract NASA has employed high-throughput molecular assays to identify sub-cellular changes impacting human physiology during spaceflight. Machine learning (ML) methods hold the promise to improve our ability to identify important signals within hig
Externí odkaz:
https://doaj.org/article/39da41b7f01e4edd933e42973a4e7fff
Autor:
Prachi Kothiyal, Greg Eley, Hari Ilangovan, Katherine A. Hoadley, S. Robin Elgart, Xiao W. Mao, Parastou Eslami
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract The space environment includes unique hazards like radiation and microgravity which can adversely affect biological systems. We assessed a multi-omics NASA GeneLab dataset where mice were hindlimb unloaded and/or gamma irradiated for 21 days
Externí odkaz:
https://doaj.org/article/8ed98ba55da94445a67f693e1a852a10
Autor:
Alper Uzun, Jessica S. Schuster, Joan Stabila, Valeria Zarate, George A. Tollefson, Anthony Agudelo, Prachi Kothiyal, Wendy S. W. Wong, James Padbury
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract The likely genetic architecture of complex diseases is that subgroups of patients share variants in genes in specific networks sufficient to express a shared phenotype. We combined high throughput sequencing with advanced bioinformatic appro
Externí odkaz:
https://doaj.org/article/5d6630bb949d40938d091f25df301a7d
Autor:
Wendy S. W. Wong, Benjamin D. Solomon, Dale L. Bodian, Prachi Kothiyal, Greg Eley, Kathi C. Huddleston, Robin Baker, Dzung C. Thach, Ramaswamy K. Iyer, Joseph G. Vockley, John E. Niederhuber
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
The study of germline mutations has been greatly enhanced by massive parallel sequencing technologies. Here the authors use deep sequencing data from nearly 700 parent-child trios to show maternal age has a small but significant correlation with the
Externí odkaz:
https://doaj.org/article/1d2fddf6abe04f2888ec30cf8d40ace3
Autor:
Prachi Kothiyal, Grace Lawrence, Irma Godinez, Kathi Chesnutt Huddleston, Alma Fuller, Sahel Hazrati, Wendy Wong, John Deeken, John Niederhuber
Publikováno v:
Journal of Clinical and Translational Science, Vol 3, Pp 27-27 (2019)
OBJECTIVES/SPECIFIC AIMS: This study aims to identify genetic biomarkers of GDM and facilitate the understanding of its molecular underpinnings. METHODS/STUDY POPULATION: We identified a cohort of mothers diagnosed with GDM in our longitudinal birth
Externí odkaz:
https://doaj.org/article/f6831fe69ead4d62ae462a033e23390b
Autor:
Dale L Bodian, Justine N McCutcheon, Prachi Kothiyal, Kathi C Huddleston, Ramaswamy K Iyer, Joseph G Vockley, John E Niederhuber
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e94554 (2014)
Technological advances coupled with decreasing costs are bringing whole genome and whole exome sequencing closer to routine clinical use. One of the hurdles to clinical implementation is the high number of variants of unknown significance. For cancer
Externí odkaz:
https://doaj.org/article/594714307f43453eaef562c32a469c8e
Autor:
Lauren M. Sanders, Ryan T. Scott, Jason H. Yang, Amina Ann Qutub, Hector Garcia Martin, Daniel C. Berrios, Jaden J. A. Hastings, Jon Rask, Graham Mackintosh, Adrienne L. Hoarfrost, Stuart Chalk, John Kalantari, Kia Khezeli, Erik L. Antonsen, Joel Babdor, Richard Barker, Sergio E. Baranzini, Afshin Beheshti, Guillermo M. Delgado-Aparicio, Benjamin S. Glicksberg, Casey S. Greene, Melissa Haendel, Arif A. Hamid, Philip Heller, Daniel Jamieson, Katelyn J. Jarvis, Svetlana V. Komarova, Matthieu Komorowski, Prachi Kothiyal, Ashish Mahabal, Uri Manor, Christopher E. Mason, Mona Matar, George I. Mias, Jack Miller, Jerry G. Myers, Charlotte Nelson, Jonathan Oribello, Seung-min Park, Patricia Parsons-Wingerter, R. K. Prabhu, Robert J. Reynolds, Amanda Saravia-Butler, Suchi Saria, Aenor Sawyer, Nitin Kumar Singh, Michael Snyder, Frank Soboczenski, Karthik Soman, Corey A. Theriot, David Van Valen, Kasthuri Venkateswaran, Liz Warren, Liz Worthey, Marinka Zitnik, Sylvain V. Costes
Publikováno v:
Nature Machine Intelligence. 5:208-219
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99f45b1caa50fbcc304fc41dc1519067
https://doi.org/10.1038/s42256-023-00618-4
https://doi.org/10.1038/s42256-023-00618-4
Autor:
Ryan T. Scott, Lauren M. Sanders, Erik L. Antonsen, Jaden J. A. Hastings, Seung-min Park, Graham Mackintosh, Robert J. Reynolds, Adrienne L. Hoarfrost, Aenor Sawyer, Casey S. Greene, Benjamin S. Glicksberg, Corey A. Theriot, Daniel C. Berrios, Jack Miller, Joel Babdor, Richard Barker, Sergio E. Baranzini, Afshin Beheshti, Stuart Chalk, Guillermo M. Delgado-Aparicio, Melissa Haendel, Arif A. Hamid, Philip Heller, Daniel Jamieson, Katelyn J. Jarvis, John Kalantari, Kia Khezeli, Svetlana V. Komarova, Matthieu Komorowski, Prachi Kothiyal, Ashish Mahabal, Uri Manor, Hector Garcia Martin, Christopher E. Mason, Mona Matar, George I. Mias, Jerry G. Myers, Charlotte Nelson, Jonathan Oribello, Patricia Parsons-Wingerter, R. K. Prabhu, Amina Ann Qutub, Jon Rask, Amanda Saravia-Butler, Suchi Saria, Nitin Kumar Singh, Michael Snyder, Frank Soboczenski, Karthik Soman, David Van Valen, Kasthuri Venkateswaran, Liz Warren, Liz Worthey, Jason H. Yang, Marinka Zitnik, Sylvain V. Costes
Publikováno v:
Nature Machine Intelligence. 5:196-207
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2f2c2831decdf4ca499077bf26aee51
https://doi.org/10.1038/s42256-023-00617-5
https://doi.org/10.1038/s42256-023-00617-5
Autor:
Wendy S.W. Wong, Joan P. Stabila, Jessica Schuster, Valeria Zarate, Prachi Kothiyal, James F. Padbury, Alper Uzun, George Tollefson, Anthony Agudelo
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Scientific Reports
Scientific Reports
Rather than pathogenic variants in single genes, the likely genetic architecture of complex diseases is that subgroups of patients share variants in genes in specific networks and pathways sufficient to give rise to a shared phenotype. We combined hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0454f3cbf432b5b946d99045e134c7bb
https://doaj.org/article/5d6630bb949d40938d091f25df301a7d
https://doaj.org/article/5d6630bb949d40938d091f25df301a7d