Zobrazeno 1 - 10
of 621
pro vyhledávání: '"Richard K. Wilson"'
Autor:
Saranga Wijeratne, Maria E. Hernandez Gonzalez, Kelli Roach, Katherine E. Miller, Kathleen M. Schieffer, James R. Fitch, Jeffrey Leonard, Peter White, Benjamin J. Kelly, Catherine E. Cottrell, Elaine R. Mardis, Richard K. Wilson, Anthony R. Miller
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-19 (2024)
Abstract Background Cancers exhibit complex transcriptomes with aberrant splicing that induces isoform-level differential expression compared to non-diseased tissues. Transcriptomic profiling using short-read sequencing has utility in providing a cos
Externí odkaz:
https://doaj.org/article/64402f5c949841d693df43c099c66531
Autor:
Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M. Colwell, Jesse M. Hunter, Marco L. Leung, Elaine R. Mardis, Peter White, Murugu Manickam, Richard K. Wilson, Daniel C. Koboldt
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Background: Leigh syndrome is a rare, genetic, and severe mitochondrial disorder characterized by neuromuscular issues (ataxia, seizure, hypotonia, developmental delay, dystonia) and ocular abnormalities (nystagmus, atrophy, strabismus, ptosis). It i
Externí odkaz:
https://doaj.org/article/65f0bb324b7e4367bb43e76e7eb8f160
Autor:
Jesse J. Westfall, Wesley N. Schwind, Sahibjot Sran, Jason B. Navarro, Jeffrey Leonard, Jonathan A. Pindrik, Christopher R. Pierson, Daniel R. Boué, Daniel C. Koboldt, Adam P. Ostendorf, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Tracy A. Bedrosian
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-16 (2022)
Abstract Rasmussen encephalitis (RE) is a rare childhood neurological disease characterized by progressive unilateral loss of function, hemispheric atrophy and drug-resistant epilepsy. Affected brain tissue shows signs of infiltrating cytotoxic T-cel
Externí odkaz:
https://doaj.org/article/7172266047244c74a00d43d4b08784a7
Autor:
Stephanie LaHaye, James R. Fitch, Kyle J. Voytovich, Adam C. Herman, Benjamin J. Kelly, Grant E. Lammi, Jeremy A. Arbesfeld, Saranga Wijeratne, Samuel J. Franklin, Kathleen M. Schieffer, Natalie Bir, Sean D. McGrath, Anthony R. Miller, Amy Wetzel, Katherine E. Miller, Tracy A. Bedrosian, Kristen Leraas, Elizabeth A. Varga, Kristy Lee, Ajay Gupta, Bhuvana Setty, Daniel R. Boué, Jeffrey R. Leonard, Jonathan L. Finlay, Mohamed S. Abdelbaki, Diana S. Osorio, Selene C. Koo, Daniel C. Koboldt, Alex H. Wagner, Ann-Kathrin Eisfeld, Krzysztof Mrózek, Vincent Magrini, Catherine E. Cottrell, Elaine R. Mardis, Richard K. Wilson, Peter White
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-16 (2021)
Abstract Background Pediatric cancers typically have a distinct genomic landscape when compared to adult cancers and frequently carry somatic gene fusion events that alter gene expression and drive tumorigenesis. Sensitive and specific detection of g
Externí odkaz:
https://doaj.org/article/1bf38c799d7f4ba18515aabb9dbe24f1
Autor:
Margaret Shatara, Kathleen M. Schieffer, Darren Klawinski, Diana L. Thomas, Christopher R. Pierson, Eric A. Sribnick, Jeremy Jones, Diana P. Rodriguez, Carol Deeg, Elizabeth Hamelberg, Stephanie LaHaye, Katherine E. Miller, James Fitch, Benjamin Kelly, Kristen Leraas, Ruthann Pfau, Peter White, Vincent Magrini, Richard K. Wilson, Elaine R. Mardis, Mohamed S. Abdelbaki, Jonathan L. Finlay, Daniel R. Boué, Catherine E. Cottrell, David R. Ghasemi, Kristian W. Pajtler, Diana S. Osorio
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-10 (2021)
Abstract Primary spinal cord tumors contribute to ≤ 10% of central nervous system tumors in individuals of pediatric or adolescent age. Among intramedullary tumors, spinal ependymomas make up ~ 30% of this rare tumor population. A twelve-year-old m
Externí odkaz:
https://doaj.org/article/caf4e2efb62e4d51aaa27696a5bedd05
Autor:
Katherine E. Miller, Gregory Wheeler, Stephanie LaHaye, Kathleen M. Schieffer, Sydney Cearlock, Lakshmi Prakruthi Rao Venkata, Alejandro Otero Bravo, Olivia E. Grischow, Benjamin J. Kelly, Peter White, Christopher R. Pierson, Daniel R. Boué, Selene C. Koo, Darren Klawinski, Mark A. Ranalli, Ammar Shaikhouni, Ralph Salloum, Margaret Shatara, Jeffrey R. Leonard, Richard K. Wilson, Catherine E. Cottrell, Elaine R. Mardis, Daniel C. Koboldt
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Rhabdoid tumors (RTs) of the brain (atypical teratoid/rhabdoid tumor; AT/RT) and extracranial sites (most often the kidney; RTK) are malignant tumors predominantly occurring in children, frequently those with SMARCB1 germline alterations. Here we pre
Externí odkaz:
https://doaj.org/article/6f21c87851ce462a9ed11e94397b6312
Autor:
Kathleen M. Schieffer, Alexander Z. Feldman, Esko A. Kautto, Sean McGrath, Anthony R. Miller, Maria Elena Hernandez-Gonzalez, Stephanie LaHaye, Katherine E. Miller, Daniel C. Koboldt, Patrick Brennan, Benjamin Kelly, Amy Wetzel, Vibhuti Agarwal, Margaret Shatara, Suzanne Conley, Diana P. Rodriguez, Rolla Abu-Arja, Ala Shaikhkhalil, Matija Snuderl, Brent A. Orr, Jonathan L. Finlay, Diana S. Osorio, Annie I. Drapeau, Jeffrey R. Leonard, Christopher R. Pierson, Peter White, Vincent Magrini, Elaine R. Mardis, Richard K. Wilson, Catherine E. Cottrell, Daniel R. Boué
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-11 (2021)
Abstract Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumor
Externí odkaz:
https://doaj.org/article/85b8e7d1df914feb8bd8c86c7a9bff75
Autor:
Pia U. Olafson, Serap Aksoy, Geoffrey M. Attardo, Greta Buckmeier, Xiaoting Chen, Craig J. Coates, Megan Davis, Justin Dykema, Scott J. Emrich, Markus Friedrich, Christopher J. Holmes, Panagiotis Ioannidis, Evan N. Jansen, Emily C. Jennings, Daniel Lawson, Ellen O. Martinson, Gareth L. Maslen, Richard P. Meisel, Terence D. Murphy, Dana Nayduch, David R. Nelson, Kennan J. Oyen, Tyler J. Raszick, José M. C. Ribeiro, Hugh M. Robertson, Andrew J. Rosendale, Timothy B. Sackton, Perot Saelao, Sonja L. Swiger, Sing-Hoi Sze, Aaron M. Tarone, David B. Taylor, Wesley C. Warren, Robert M. Waterhouse, Matthew T. Weirauch, John H. Werren, Richard K. Wilson, Evgeny M. Zdobnov, Joshua B. Benoit
Publikováno v:
BMC Biology, Vol 19, Iss 1, Pp 1-31 (2021)
Abstract Background The stable fly, Stomoxys calcitrans, is a major blood-feeding pest of livestock that has near worldwide distribution, causing an annual cost of over $2 billion for control and product loss in the USA alone. Control of these flies
Externí odkaz:
https://doaj.org/article/4a1847c75a1b47d6b38f58fe8b200d36
Autor:
Jessica M. Silva-Fisher, Ha X. Dang, Nicole M. White, Matthew S. Strand, Bradley A. Krasnick, Emily B. Rozycki, Gejae G. L. Jeffers, Julie G. Grossman, Maureen K. Highkin, Cynthia Tang, Christopher R. Cabanski, Abdallah Eteleeb, Jacqueline Mudd, S. Peter Goedegebuure, Jingqin Luo, Elaine R. Mardis, Richard K. Wilson, Timothy J. Ley, Albert C. Lockhart, Ryan C. Fields, Christopher A. Maher
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
The role of long non-coding RNAs (lncRNAs) in metastatic colorectal cancer (mCRC) and treatment resistance is unclear. Here, the authors use transcriptome sequencing of matched normal, primary, and metastatic CRC tissues to discover and validate that
Externí odkaz:
https://doaj.org/article/419e0097c4524d55a96202eb846d0823
Autor:
Maged Zeineldin, Sara Federico, Xiang Chen, Yiping Fan, Beisi Xu, Elizabeth Stewart, Xin Zhou, Jongrye Jeon, Lyra Griffiths, Rosa Nguyen, Jackie Norrie, John Easton, Heather Mulder, Donald Yergeau, Yanling Liu, Jianrong Wu, Collin Van Ryn, Arlene Naranjo, Michael D. Hogarty, Marcin M. Kamiński, Marc Valentine, Shondra M. Pruett-Miller, Alberto Pappo, Jinghui Zhang, Michael R. Clay, Armita Bahrami, Peter Vogel, Seungjae Lee, Anang Shelat, Jay F. Sarthy, Michael P. Meers, Rani E. George, Elaine R. Mardis, Richard K. Wilson, Steven Henikoff, James R. Downing, Michael A. Dyer
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
In most cancers, mutations that lead to oncogene activation and tumor suppressor inactivation synergize to promote tumorigenesis. However, in neuroblastomas, MYCN amplification and ATRX mutations are mutually exclusive and incompatible.
Externí odkaz:
https://doaj.org/article/08a87c1bf95d4f798e9e0d5a7daabd61