Zobrazeno 1 - 10
of 627
pro vyhledávání: '"Douglas A, Stewart"'
Autor:
Anna Pujadas Botey, Tara R. Bond, Eliya Farah, Chantelle Carbonell, Stacey Dyck, Angela Estey, Douglas A. Stewart, Darren R. Brenner, Paula J. Robson
Publikováno v:
Current Oncology, Vol 31, Iss 3, Pp 1470-1476 (2024)
This commentary provides a detailed overview of the extensive stakeholder engagement efforts critical to the development of the Future of Cancer Impact (FOCI) in Alberta report. The overarching aim of the FOCI report was to support informed and strat
Externí odkaz:
https://doaj.org/article/e91e60966a664a25b8b858bfdad194da
Autor:
Hormuzd A. Katki, Sonja I. Berndt, Mitchell J. Machiela, Douglas R. Stewart, Montserrat Garcia-Closas, Jung Kim, Jianxin Shi, Kai Yu, Nathaniel Rothman
Publikováno v:
BMC Medical Research Methodology, Vol 23, Iss 1, Pp 1-11 (2023)
Abstract Background The rule of thumb that there is little gain in statistical power by obtaining more than 4 controls per case, is based on type-1 error α = 0.05. However, association studies that evaluate thousands or millions of associations use
Externí odkaz:
https://doaj.org/article/bd7386a1b9c44bb5b7f00af13cfc3223
Autor:
Jung Kim, Jeremy Haley, Jessica N. Hatton, Uyenlinh L. Mirshahi, H. Shanker Rao, Mark F. Ramos, Diane Smelser, Gretchen M. Urban, Kris Ann P. Schultz, David J. Carey, Douglas R. Stewart
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101846- (2024)
Purpose: Population-scale, exome-sequenced cohorts with linked electronic health records (EHR) permit genome-first exploration of phenotype. Phenotype and cancer risk are well characterized in children with a pathogenic DICER1 (HGNC ID:17098) variant
Externí odkaz:
https://doaj.org/article/d0ec4b14921545f3b4f169c60f7ae7da
Autor:
Kelvin C. de Andrade, Natasha T. Strande, Jung Kim, Jeremy S. Haley, Jessica N. Hatton, Megan N. Frone, Payal P. Khincha, Gretchen M. Thone, Uyenlinh L. Mirshahi, Cynthia Schneider, Heena Desai, James T. Dove, Diane T. Smelser, Arnold J. Levine, Kara N. Maxwell, Douglas R. Stewart, David J. Carey, Sharon A. Savage
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100242- (2024)
Summary: Pathogenic or likely pathogenic (P/LP) germline TP53 variants are the primary cause of Li-Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder characterized by early-onset cancers. The population prevalence of P/LP germline T
Externí odkaz:
https://doaj.org/article/addc5e489bb345e3861d80415655e2ce
Autor:
Spyros Lytras, Arthur Wickenhagen, Elena Sugrue, Douglas G Stewart, Simon Swingler, Anna Sims, Hollie Jackson Ireland, Emma L Davies, Eliza M Ludlam, Zhuonan Li, Joseph Hughes, Sam J Wilson
Publikováno v:
PLoS Biology, Vol 21, Iss 11, p e3002398 (2023)
The prenylated form of the human 2'-5'-oligoadenylate synthetase 1 (OAS1) protein has been shown to potently inhibit the replication of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), the virus responsible for the Coronavirus Disease 20
Externí odkaz:
https://doaj.org/article/044c4448a3ee4d4ab82590b54230a869
Autor:
Julio C. Ricarte-Filho, Victoria Casado-Medrano, Erin Reichenberger, Zachary Spangler, Michele Scheerer, Amber Isaza, Julia Baran, Tasleema Patel, Suzanne P. MacFarland, Garrett M. Brodeur, Douglas R. Stewart, Zubair Baloch, Andrew J. Bauer, Jonathan D. Wasserman, Aime T. Franco
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
DICER1 is a highly conserved RNase III endoribonuclease essential for the biogenesis of single-stranded mature microRNAs (miRNAs) from stem-loop precursor miRNAs. Somatic mutations in the RNase IIIb domain of DICER1 impair its ability to generate mat
Externí odkaz:
https://doaj.org/article/3431019e8d2449dcababb11b49f65c34
Autor:
Jung Kim, Danielle M Karyadi, Stephen W Hartley, Bin Zhu, Mingyi Wang, Dongjing Wu, Lei Song, Gregory T Armstrong, Smita Bhatia, Leslie L Robison, Yutaka Yasui, Brian Carter, Joshua N Sampson, Neal D Freedman, Alisa M Goldstein, Lisa Mirabello, Stephen J Chanock, Lindsay M Morton, Sharon A Savage, Douglas R Stewart
Publikováno v:
PLoS ONE, Vol 18, Iss 1, p e0280951 (2023)
The use of publicly available sequencing datasets as controls (hereafter, "public controls") in studies of rare variant disease associations has great promise but can increase the risk of false-positive discovery. The specific factors that could cont
Externí odkaz:
https://doaj.org/article/642131f437b34ce39db4400b1058a400
Autor:
Lauren M. Vasta, Alison Nichols, Laura A. Harney, Ana F. Best, Ann G. Carr, Anne K. Harris, Markku Miettinen, Kris Ann P. Schultz, Hung Jeffrey Kim, Douglas R. Stewart
Publikováno v:
Rhinology Online, Vol 3, Pp 15-24 (2020)
Background: Nasal chondromesenchymal hamartomas are benign, rare nasal tumors associated with DICER1 pathogenic germ-line variation. They can be locally destructive and recurrent if not completely resected. Methodology: In this single-center, case-co
Externí odkaz:
https://doaj.org/article/b172e575cdc8420aa3eaf0ef7dc0e837
Autor:
Andrew E Shaw, Suzannah J Rihn, Nardus Mollentze, Arthur Wickenhagen, Douglas G Stewart, Richard J Orton, Srikeerthana Kuchi, Siddharth Bakshi, Mila Rodriguez Collados, Matthew L Turnbull, Joseph Busby, Quan Gu, Katherine Smollett, Connor G G Bamford, Elena Sugrue, Paul C D Johnson, Ana Filipe Da Silva, Alfredo Castello, Daniel G Streicker, David L Robertson, Massimo Palmarini, Sam J Wilson
Publikováno v:
PLoS Biology, Vol 19, Iss 9, p e3001352 (2021)
Antiviral defenses can sense viral RNAs and mediate their destruction. This presents a challenge for host cells since they must destroy viral RNAs while sparing the host mRNAs that encode antiviral effectors. Here, we show that highly upregulated int
Externí odkaz:
https://doaj.org/article/93c6a324bb0649b4bf2748908f349e90
Autor:
Jung Kim, Wen Luo, Mingyi Wang, Talia Wegman-Ostrosky, Megan N. Frone, Jennifer J. Johnston, Michael L. Nickerson, Melissa Rotunno, Shengchao A. Li, Maria I. Achatz, Seth A. Brodie, Michael Dean, Kelvin C. de Andrade, Fernanda P. Fortes, Matthew Gianferante, Payal Khincha, Mary L. McMaster, Lisa J. McReynolds, Alexander Pemov, Maisa Pinheiro, Karina M. Santiago, Blanche P. Alter, Neil E. Caporaso, Shahinaz M. Gadalla, Lynn R. Goldin, Mark H. Greene, Jennifer Loud, Xiaohong R. Yang, Neal D. Freedman, Susan M. Gapstur, Mia M. Gaudet, Donato Calista, Paola Ghiorzo, Maria Concetta Fargnoli, Eduardo Nagore, Ketty Peris, Susana Puig, Maria Teresa Landi, Belynda Hicks, Bin Zhu, Jia Liu, Joshua N. Sampson, Stephen J. Chanock, Lisa J. Mirabello, Lindsay M. Morton, Leslie G. Biesecker, Margaret A. Tucker, Sharon A. Savage, Alisa M. Goldstein, Douglas R. Stewart
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-9 (2018)
Abstract Background Prior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0.8–5%. We investiga
Externí odkaz:
https://doaj.org/article/f8d664b0a6b34bb18931cda5ffb1397c