Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Carrie A Mohila"'
Autor:
Wenyi Zhu, Saritha Krishna, Cristina Garcia, Chia-Ching John Lin, Bartley D Mitchell, Kenneth L Scott, Carrie A Mohila, Chad J Creighton, Seung-Hee Yoo, Hyun Kyoung Lee, Benjamin Deneen
Publikováno v:
eLife, Vol 6 (2017)
Von Hippel-Landau (VHL) protein is a potent tumor suppressor regulating numerous pathways that drive cancer, but mutations in VHL are restricted to limited subsets of malignancies. Here we identified a novel mechanism for VHL suppression in tumors th
Externí odkaz:
https://doaj.org/article/c896bbde90e74bc3b56a52f6fdc76b39
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 8, Iss 2, Pp 97-101 (2023)
The most common pathologic group of childhood brain tumors are low grade gliomas (LGG). LGG comprise a variety of histologies among which pilocytic astrocytoma (WHO grade I) is the most common. Complete resection of LGG portends an excellent prognosi
Externí odkaz:
https://doaj.org/article/235583dd0e8b4cbc8acb20127607848d
Autor:
Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)
Abstract Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data. Here, we describe how deep clinicopathological ph
Externí odkaz:
https://doaj.org/article/cb34fe521e7d4c82ae7f6de309954374
Autor:
Najla Kfoury, Tao Sun, Kwanha Yu, Nathan Rockwell, Kelsey L. Tinkum, Zongtai Qi, Nicole M. Warrington, Peter McDonald, Anuradha Roy, Scott J. Weir, Carrie A. Mohila, Benjamin Deneen, Joshua B. Rubin
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-13 (2018)
Abstract Mechanisms underlying sex differences in cancer incidence are not defined but likely involve dimorphism (s) in tumor suppressor function at the cellular and organismal levels. As an example, sexual dimorphism in retinoblastoma protein (Rb) a
Externí odkaz:
https://doaj.org/article/be8f708cece04a41bfd595a9a82149a8
Autor:
Kwanha, Yu, Kathleen, Kong, Brittney, Lozzi, Estefania, Luna-Figueroa, Alexis, Cervantes, Rachel, Curry, Carrie A, Mohila, Ganesh, Rao, Ali, Jalali, Gordon B, Mills, Kenneth L, Scott, Benjamin, Deneen
Publikováno v:
Neuro-Oncology. 25:471-481
Background Glioblastoma is the most common and aggressive primary brain tumor. Large-scale sequencing initiatives have cataloged its mutational landscape in hopes of elucidating mechanisms driving this deadly disease. However, a major bottleneck in h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acb6d24a9375493e2df857f2b2504eff
https://doi.org/10.1093/neuonc/noac215
https://doi.org/10.1093/neuonc/noac215
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Autor:
Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee
Publikováno v:
The American Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c499b888e214073eb018b6346f98d839
https://doi.org/10.1016/j.ajhg.2023.04.006
https://doi.org/10.1016/j.ajhg.2023.04.006
Autor:
Carlos J. Ballester‐Rosado, John T. Le, Trang T. Lam, Carrie A. Mohila, Sandi Lam, Anne E. Anderson, James D. Frost, John W. Swann
Publikováno v:
Annals of Neurology. 92:45-60
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0367b6a79fd50462cb2bdb0cb3c5b524
https://doi.org/10.1002/ana.26383
https://doi.org/10.1002/ana.26383
Autor:
Bettina L Serrallach, Brandon H Tran, David F Bauer, Carrie A Mohila, Adekunle M Adesina, Susan L McGovern, Holly B Lindsay, Thierry AGM Huisman
Publikováno v:
The Neuroradiology Journal. 35:634-639
Primary spinal cord high-grade gliomas, including those histologically identified as glioblastoma (GBM), are a rare entity in the pediatric population but should be considered in the differential diagnosis of intramedullary lesions. Pediatric spinal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d25c5156d13717f945b84b8fdef02d
https://doi.org/10.1177/19714009211067402
https://doi.org/10.1177/19714009211067402
Autor:
Richard A. Gibbs, Vidya Mehta, Tadahiro Mitani, Shalini N. Jhangiani, James R. Lupski, Isabella Herman, Timothy Lotze, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Daniel G. Calame, Dana Marafi, Farida Abid, Jawid M Fatih, Jennifer E. Posey, Adekunle M. Adesina, Carrie A. Mohila
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)
Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data. Here, we describe how deep clinicopathological phenotyping
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::961ca042c9e9ed7146146386d20f58d4
http://europepmc.org/articles/PMC8528454
http://europepmc.org/articles/PMC8528454
Autor:
Carrie A. Mohila, Veeral Shah, Aishwarya V Pareek, Timothy E Lotze, Brandon Tran, Gail J. Demmler
Publikováno v:
Journal of Neuro-Ophthalmology. 41:399-403
A 9-year-old girl presented with morning headaches associated with vomiting, gait ataxia, and facial and ocular motor nerve palsies. Her initial imaging was concerning for demyelinating disease. After extensive infectious and rheumatologic workup ret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a94198a9a8a318fb764fd38f7bcd8f5
https://doi.org/10.1097/wno.0000000000001204
https://doi.org/10.1097/wno.0000000000001204