Zobrazeno 1 - 10
of 2 700
pro vyhledávání: '"A S, Hughes"'
Autor:
Yuka Takemon, Erin D. Pleasance, Alessia Gagliardi, Christopher S. Hughes, Veronika Csizmok, Kathleen Wee, Diane L. Trinh, Ryan D. Huff, Andrew J. Mungall, Richard A. Moore, Eric Chuah, Karen L. Mungall, Eleanor Lewis, Jessica Nelson, Howard J. Lim, Daniel J. Renouf, Steven JM. Jones, Janessa Laskin, Marco A. Marra
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-31 (2024)
Abstract Background Loss-of-function (LOF) alterations in tumour suppressor genes cannot be directly targeted. Approaches characterising gene function and vulnerabilities conferred by such mutations are required. Methods Here, we computationally map
Externí odkaz:
https://doaj.org/article/2954f6a10f424393a3fd559481966131
Autor:
Alexander Fröhlich, Abigail L. Pfaff, Ben Middlehurst, Lauren S. Hughes, Vivien J. Bubb, John P. Quinn, Sulev Koks
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract SINE-VNTR-Alu (SVA) retrotransposons are transposable elements which represent a source of genetic variation. We previously demonstrated that the presence/absence of a human-specific SVA, termed SVA_67, correlated with the progression of Par
Externí odkaz:
https://doaj.org/article/d2f476689c424207a54da2ebbb79a360
Autor:
Ehren Dancy, Pamela Stratton, Dominique C. Pichard, Beatriz E. Marciano, Edward W. Cowen, Alison A. McBride, Koenraad Van Doorslaer, Melissa A. Merideth, Noemi Salmeri, Marybeth S. Hughes, Theo Heller, Mark Parta, Dennis D. Hickstein, Heidi H. Kong, Steven M. Holland, Christa S. Zerbe
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
ObjectivePatients with pathogenic variants in the GATA Binding Protein 2 (GATA2), a hematopoietic transcription factor, are at risk for human papillomavirus-related (HPV) anogenital cancer at younger than expected ages. A female cohort with GATA2 hap
Externí odkaz:
https://doaj.org/article/d6962edf636b4e08a6feb288037c400d
Autor:
Amir Pozner, Li Li, Shiv Prakash Verma, Shuxin Wang, Jared J. Barrott, Mary L. Nelson, Jamie S. E. Yu, Gian Luca Negri, Shane Colborne, Christopher S. Hughes, Ju-Fen Zhu, Sydney L. Lambert, Lara S. Carroll, Kyllie Smith-Fry, Michael G. Stewart, Sarmishta Kannan, Bodrie Jensen, Cini M. John, Saif Sikdar, Hongrui Liu, Ngoc Ha Dang, Jennifer Bourdage, Jinxiu Li, Jeffery M. Vahrenkamp, Katelyn L. Mortenson, John S. Groundland, Rosanna Wustrack, Donna L. Senger, Franz J. Zemp, Douglas J. Mahoney, Jason Gertz, Xiaoyang Zhang, Alexander J. Lazar, Martin Hirst, Gregg B. Morin, Torsten O. Nielsen, Peter S. Shen, Kevin B. Jones
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract The t(X,17) chromosomal translocation, generating the ASPSCR1::TFE3 fusion oncoprotein, is the singular genetic driver of alveolar soft part sarcoma (ASPS) and some Xp11-rearranged renal cell carcinomas (RCCs), frustrating efforts to identif
Externí odkaz:
https://doaj.org/article/22b004d19a254382bdb0a79d65c8bcf2
Publikováno v:
JMIR Diabetes, Vol 9, p e55424 (2024)
BackgroundIndividuals with chronic diseases often search for health information online. The Diabetes Online Community (DOC) is an active community with members who exchange health information; however, few studies have examined health information bro
Externí odkaz:
https://doaj.org/article/d49758fbef9b41419bc965f884c71336
Autor:
Samantha Hammack, Devon Wallis Hague, Miranda D. Vieson, Elizabeth Esdaile, Shayne S. Hughes, Rebecca R. Bellone, Annette M. McCoy
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 37, Iss 5, Pp 1710-1715 (2023)
Abstract Background Globoid cell leukodystrophy (GCL) is a fatal autosomal recessive disease caused by variants in the galactosylceramidase (GALC) gene. Two dog breed‐specific variants are reported. Objectives Characterize the putatively causative
Externí odkaz:
https://doaj.org/article/5e750c089bc3462eb10b5c2bebeedfc9
Autor:
Mitchell S. von Itzstein, Yuqiu Yang, Yiqing Wang, David Hsiehchen, Thomas Y. Sheffield, Farjana Fattah, Vinita Popat, Murtaza Ahmed, Jade Homsi, Jonathan E. Dowell, Sawsan Rashdan, Jay Lohrey, Hans J. Hammers, Randall S. Hughes, Tao Wang, Yang Xie, David E. Gerber
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundA useful clinical biomarker requires not only association but also a consistent temporal relationship. For instance, chemotherapy-induced neutropenia and epidermal growth-factor inhibitor-related acneiform rash both occur within weeks of tr
Externí odkaz:
https://doaj.org/article/e1b2ad32701a42d2b479f1f97e15f912
Autor:
Matthew I. Ehrlich, MD, Michael S. Hughes, MD, Brian W. Labadie, MD, Markus D. Siegelin, MD, Frank D’Ovidio, MD, PhD, Rachel Bijou, MD, Suzanne Lentzsch, MD, PhD, Selim M. Arcasoy, MD, MPH
Publikováno v:
Transplantation Direct, Vol 10, Iss 3, p e1577 (2024)
Externí odkaz:
https://doaj.org/article/a164988784654a088a72f7294693038a
Autor:
A. Geraghty, T. Becque, L. Roberts, J. Hill, N. Foster, L. Yardley, B. Stuart, D. Turner, E. Hay, G. Griffiths, F. Webley, L. Durcan, A. Morgan, S. Hughes, S. Bathers, S. Butler-Walley, S. Wathall, G. Mansell, P. Little
Publikováno v:
Brain and Spine, Vol 4, Iss , Pp 103264- (2024)
Externí odkaz:
https://doaj.org/article/061778ea99e24994a7b16ef64a8c279c
Autor:
Alexander Fröhlich, Lauren S. Hughes, Ben Middlehurst, Abigail L. Pfaff, Vivien J. Bubb, Sulev Koks, John P. Quinn
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundSINE-VNTR-Alu (SVA) retrotransposons are hominid-specific elements which have been shown to play important roles in processes such as chromatin structure remodelling and regulation of gene expression demonstrating that these repetitive elem
Externí odkaz:
https://doaj.org/article/38c1abd247cb4339b4a62507e653761a