Zobrazeno 1 - 10
of 317
pro vyhledávání: '"Catherine A. Cottrell"'
Autor:
Michelle A. Wedemeyer, Tianli Ding, Elizabeth A. R. Garfinkle, Jesse J. Westfall, Jaye B. Navarro, Maria Elena Hernandez Gonzalez, Elizabeth A. Varga, Patricia Witman, Elaine R. Mardis, Catherine E. Cottrell, Anthony R. Miller, Katherine E. Miller
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have
Externí odkaz:
https://doaj.org/article/183a69823ecc4b859a5266f42d70c7e1
Autor:
Ann M. Kebede, Elizabeth A. R. Garfinkle, Mariam T. Mathew, Elizabeth Varga, Susan I. Colace, Gregory Wheeler, Benjamin J. Kelly, Kathleen M. Schieffer, Katherine E. Miller, Elaine R. Mardis, Catherine E. Cottrell, Samara L. Potter
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
Despite the increasing availability of comprehensive next generation sequencing (NGS), its role in characterizing pediatric hematologic malignancies remains undefined. We describe findings from comprehensive genomic profiling of hematologic malignanc
Externí odkaz:
https://doaj.org/article/41eb05d2f3644a81ac231433853ed0ac
Autor:
Margaret Shatara, Kathleen M. Schieffer, Marilena Melas, Elizabeth A. Varga, Diana Thomas, Brianna A. Bucknor, Heather M. Costello, Gregory Wheeler, Benjamin J. Kelly, Katherine E. Miller, Diana P. Rodriguez, Mariam T. Mathew, Kristy Lee, Erin Crotty, Sarah Leary, Vera A. Paulson, Bonnie Cole, Mohamed S. Abdelbaki, Jonathan L. Finlay, Margot A. Lazow, Ralph Salloum, Maryam Fouladi, Daniel R. Boué, Elaine R. Mardis, Catherine E. Cottrell
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
IntroductionIn the setting of pediatric and adolescent young adult cancer, increased access to genomic profiling has enhanced the detection of genetic variation associated with cancer predisposition, including germline syndromic conditions. Noonan sy
Externí odkaz:
https://doaj.org/article/3f7187b0ada1421ea4a77df0475dfdd6
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:
Chelsea Mayoh, Andrew J. Gifford, Rachael Terry, Loretta M. S. Lau, Marie Wong, Padmashree Rao, Tyler Shai-Hee, Federica Saletta, Dong-Anh Khuong-Quang, Vicky Qin, Marion K. Mateos, Deborah Meyran, Katherine E. Miller, Aysen Yuksel, Emily V. A. Mould, Rachel Bowen-James, Dinisha Govender, Akanksha Senapati, Nataliya Zhukova, Natacha Omer, Hetal Dholaria, Frank Alvaro, Heather Tapp, Yonatan Diamond, Luciano Dalla Pozza, Andrew S. Moore, Wayne Nicholls, Nicholas G. Gottardo, Geoffrey McCowage, Jordan R. Hansford, Seong-Lin Khaw, Paul J. Wood, Daniel Catchpoole, Catherine E. Cottrell, Elaine R. Mardis, Glenn M. Marshall, Vanessa Tyrrell, Michelle Haber, David S. Ziegler, Orazio Vittorio, Joseph A. Trapani, Mark J. Cowley, Paul J. Neeson, Paul G. Ekert
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)
Abstract Background Molecular profiling of the tumour immune microenvironment (TIME) has enabled the rational choice of immunotherapies in some adult cancers. In contrast, the TIME of paediatric cancers is relatively unexplored. We speculated that a
Externí odkaz:
https://doaj.org/article/fbd7979e6f4b4aebb70a711623639d1f
Autor:
Nikita R. Dsouza, Catherine E. Cottrell, Olivia M. T. Davies, Megha M. Tollefson, Ilona J. Frieden, Donald Basel, Raul Urrutia, Beth A. Drolet, Michael T. Zimmermann
Publikováno v:
Life, Vol 14, Iss 3, p 297 (2024)
The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of PIK3R1 and PIK3CA are associated with vascular anomalies and
Externí odkaz:
https://doaj.org/article/fdc5d83d31bc4155be73a148f242b1e8
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