Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Patricia L.M. Dahia"'
Autor:
Qianjin Guo, Zi-Ming Cheng, Hector Gonzalez-Cantú, Matthew Rotondi, Gabriela Huelgas-Morales, Purushoth Ethiraj, Zhijun Qiu, Jonathan Lefkowitz, Wan Song, Bethany N. Landry, Hector Lopez, Cynthia M. Estrada-Zuniga, Shivi Goyal, Mohammad Aasif Khan, Timothy J. Walker, Exing Wang, Faqian Li, Yanli Ding, Lois M. Mulligan, Ricardo C.T. Aguiar, Patricia L.M. Dahia
Publikováno v:
Cell Reports, Vol 42, Iss 9, Pp 113070- (2023)
Summary: The TMEM127 gene encodes a transmembrane protein of poorly known function that is mutated in pheochromocytomas, neural crest-derived tumors of adrenomedullary cells. Here, we report that, at single-nucleus resolution, TMEM127-mutant tumors s
Externí odkaz:
https://doaj.org/article/74efd737d1554c5e84e35c4daa5fe892
Autor:
James Brugarolas, W. Marston Linehan, Charis Eng, Patricia L.M. Dahia, Xian-Jin Xie, Chao Xing, Adam R. Metwalli, Maria J. Merino, Nick Grishin, Lisa Kinch, Lindsay Middelton, James Peterson, Christopher J. Ricketts, Cathy D. Vocke, Alana Christie, Andrea Pavia-Jimenez, Samuel Peña-Llopis, Jessica L. Mester, Laura S. Schmidt, Megan N. Farley
PDF file - 233K, VHL mutation status in some but not all tumors from Family NCI-1326.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c1a107592d76de15555689e3e2f1575
https://doi.org/10.1158/1541-7786.22509765
https://doi.org/10.1158/1541-7786.22509765
Autor:
James Brugarolas, W. Marston Linehan, Charis Eng, Patricia L.M. Dahia, Xian-Jin Xie, Chao Xing, Adam R. Metwalli, Maria J. Merino, Nick Grishin, Lisa Kinch, Lindsay Middelton, James Peterson, Christopher J. Ricketts, Cathy D. Vocke, Alana Christie, Andrea Pavia-Jimenez, Samuel Peña-Llopis, Jessica L. Mester, Laura S. Schmidt, Megan N. Farley
PDF file - 104K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813587ebb55f45d8b3e66d7e687a35f3
https://doi.org/10.1158/1541-7786.22509762
https://doi.org/10.1158/1541-7786.22509762
Autor:
Patricia L.M. Dahia, Ricardo C.T. Aguiar, Yidong Chen, Robert L. Reddick, Jan Bruder, Marta Barontini, Neil Aronin, Sarika Rao, I. Tolgay Ocal, Manju L. Prasad, Gustavo M. Silva, Shintaro Iwata, Qing Gao, Zi-Ming Cheng, Yuejuan Qin, Rodrigo A. Toledo
Supplementary Appendix: List of all supplementary data files; Supplemental Methods: Additional clinical details of Samples, and details of whole exome sequencing, targeted sequencing and in silico structure modeling not included in main article
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62fadc0665be6fa207fdff19736c5c9c
https://doi.org/10.1158/1078-0432.22457802.v1
https://doi.org/10.1158/1078-0432.22457802.v1
Autor:
Patricia L.M. Dahia, Ricardo C.T. Aguiar, Yidong Chen, Robert L. Reddick, Jan Bruder, Marta Barontini, Neil Aronin, Sarika Rao, I. Tolgay Ocal, Manju L. Prasad, Gustavo M. Silva, Shintaro Iwata, Qing Gao, Zi-Ming Cheng, Yuejuan Qin, Rodrigo A. Toledo
Purpose: Pheochromocytomas and paragangliomas (PPGL) are genetically heterogeneous tumors of neural crest origin, but the molecular basis of most PPGLs is unknown.Experimental Design: We performed exome or transcriptome sequencing of 43 samples from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c258e7c083018896e91674880a4ec87
https://doi.org/10.1158/1078-0432.c.6523701.v1
https://doi.org/10.1158/1078-0432.c.6523701.v1
Autor:
Patricia L.M. Dahia, Ricardo C.T. Aguiar, Yidong Chen, Robert L. Reddick, Jan Bruder, Marta Barontini, Neil Aronin, Sarika Rao, I. Tolgay Ocal, Manju L. Prasad, Gustavo M. Silva, Shintaro Iwata, Qing Gao, Zi-Ming Cheng, Yuejuan Qin, Rodrigo A. Toledo
Supplemental Figure 1: Alternative views of Figure 1 displaying mutations in our cohort; Supplemental Figure 2: Histone 3.3 G34W mutation in patient samples; Supplemental Figure 3: In silico analysis of histone 3.3 and G34W mutant; Supplemental Figur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c9318cf4ace5911fb2633c48d842a6d
https://doi.org/10.1158/1078-0432.22457808
https://doi.org/10.1158/1078-0432.22457808
Autor:
Patricia L.M. Dahia, Ricardo C.T. Aguiar, Yidong Chen, Robert L. Reddick, Jan Bruder, Marta Barontini, Neil Aronin, Sarika Rao, I. Tolgay Ocal, Manju L. Prasad, Gustavo M. Silva, Shintaro Iwata, Qing Gao, Zi-Ming Cheng, Yuejuan Qin, Rodrigo A. Toledo
Table S1: Features of the 41 samples of the next-generation sequencing (NGS) cohort; Table S2: Mutations identified in known pheochromocytoma/paraganglioma-related genes in the NGS cohort; Table S3: Features of the validation cohort of 136 pheochromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dab9b55fb4482a505f320c3c03a2880
https://doi.org/10.1158/1078-0432.22457805.v1
https://doi.org/10.1158/1078-0432.22457805.v1
Autor:
Charles D. Stiles, Sérgio P.A. Toledo, Cheng Li, César Y. Hayashida, Alberto Cascon, Neil Aronin, Danielle Magoffin, Ken Ross, Miguel A.G. Pujana, Christian Colin, John Rogus, Ke Hao, Patricia L.M. Dahia
Pheochromocytomas are catecholamine-secreting tumors that result from mutations of at least six different genes as components of distinct autosomal dominant disorders. However, there remain familial occurrences of pheochromocytoma without a known gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a007f5a4a595daafed5db93b4095d3d1
https://doi.org/10.1158/0008-5472.c.6496007
https://doi.org/10.1158/0008-5472.c.6496007
Autor:
Charles D. Stiles, Sérgio P.A. Toledo, Cheng Li, César Y. Hayashida, Alberto Cascon, Neil Aronin, Danielle Magoffin, Ken Ross, Miguel A.G. Pujana, Christian Colin, John Rogus, Ke Hao, Patricia L.M. Dahia
Supplementary Data and Table 1 from Novel Pheochromocytoma Susceptibility Loci Identified by Integrative Genomics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2009a0b27adbf51f882618e2d14c6fd5
https://doi.org/10.1158/0008-5472.22368569.v1
https://doi.org/10.1158/0008-5472.22368569.v1
Autor:
Cynthia M. Estrada-Zuniga, Zi-Ming Cheng, Purushoth Ethiraj, Qianjin Guo, Hector Gonzalez-Cantú, Elaina Adderley, Hector Lopez, Bethany N. Landry, Abir Zainal, Neil Aronin, Yanli Ding, Xiaojing Wang, Ricardo C.T. Aguiar, Patricia L.M. Dahia
Publikováno v:
Cell Reports Medicine. 3:100686
The RET kinase receptor is a target of mutations in neural crest tumors, including pheochromocytomas, and of oncogenic fusions in epithelial cancers. We report a RET::GRB2 fusion in a pheochromocytoma in which RET, functioning as the upstream partner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7e108c089e68954361cacee02b903a4
https://doi.org/10.1016/j.xcrm.2022.100686
https://doi.org/10.1016/j.xcrm.2022.100686