Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Emilia M. Pinto"'
Autor:
Andrew J. Murphy, Changde Cheng, Justin Williams, Timothy I. Shaw, Emilia M. Pinto, Karissa Dieseldorff-Jones, Jack Brzezinski, Lindsay A. Renfro, Brett Tornwall, Vicki Huff, Andrew L. Hong, Elizabeth A. Mullen, Brian Crompton, Jeffrey S. Dome, Conrad V. Fernandez, James I. Geller, Peter F. Ehrlich, Heather Mulder, Ninad Oak, Jamie Maciezsek, Carolyn M. Jablonowski, Andrew M. Fleming, Prahalathan Pichavaram, Christopher L. Morton, John Easton, Kim E. Nichols, Michael R. Clay, Teresa Santiago, Jinghui Zhang, Jun Yang, Gerard P. Zambetti, Zhaoming Wang, Andrew M. Davidoff, Xiang Chen
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Abstract Developing synchronous bilateral Wilms tumor suggests an underlying (epi)genetic predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or genome sequencing (n = 85 tumors from 61 patients with matched germlin
Externí odkaz:
https://doaj.org/article/946f460fad5e41959f9465bb4f236137
Autor:
Emilia M. Pinto, Cintia Fridman, Bonald C. Figueiredo, Hector Salvador, Manuel R. Teixeira, Carla Pinto, Manuela Pinheiro, Christian P. Kratz, Cinzia Lavarino, Edith A.M. F. Legal, Anh Le, Gregory Kelly, Erika Koeppe, Elena M. Stoffel, Kelsey Breen, Stefanie Hahner, Britta Heinze, Piti Techavichit, Amanda Krause, Tsutomu Ogata, Yasuko Fujisawa, Michael F. Walsh, Huma Q. Rana, Kara N. Maxwell, Judy E. Garber, Carlos Rodriguez-Galindo, Raul C. Ribeiro, Gerard P. Zambetti
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100244- (2024)
Summary: The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation in two distinct haplotypes with the most frequent co-
Externí odkaz:
https://doaj.org/article/02c8af13bfa145bdbadf55670897ec29
Autor:
Andrew J. Murphy, Xiang Chen, Emilia M. Pinto, Justin S. Williams, Michael R. Clay, Stanley B. Pounds, Xueyuan Cao, Lei Shi, Tong Lin, Geoffrey Neale, Christopher L. Morton, Mary A. Woolard, Heather L. Mulder, Hyea Jin Gil, Jerold E. Rehg, Catherine A. Billups, Matthew L. Harlow, Jeffrey S. Dome, Peter J. Houghton, John Easton, Jinghui Zhang, Rani E. George, Gerard P. Zambetti, Andrew M. Davidoff
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
The progress in pre-clinical drug discovery for Wilms tumor (WT) is limited by a lack of disease models. Here, the authors develop 45 heterotopic WT patient-derived xenografts including several anaplastic models that recapitulate the biological heter
Externí odkaz:
https://doaj.org/article/db96314ad7db4fb39fc7295bd2b1e60c
Autor:
Viviane K. Q. Gerber, Mariana M. Paraizo, Humberto C. Ibañez, José C. Casali-da-Rocha, Emilia M. Pinto, Diancarlos P. Andrade, Marilea V. C. Ibañez, Heloisa Komechen, Mirna M. O. Figueiredo, Gislaine Custódio, Carmem M. C. M. Fiori, José H. G. Balbinotti, Jeanine M. Nardin, Thais A. Almeida, Olair O. Beltrame, Paula A. Yamada, Gabriel S. de Fraga, Lucas L. de Brito, Jamylle Martins, Viviane S. Melanda, Otavio A. B. Licht, Victoria Z. Teixeira, Sandy K. S. Pinho, Silvia Bottini, Enzo Lalli, Gerard P. Zambetti, Bonald C. Figueiredo
Publikováno v:
Cancers, Vol 14, Iss 12, p 3014 (2022)
Two major concerns associated with cancer development in Paraná state, South Brazil, are environmental pollution and the germline TP53 p.R337H variant found in 0.27–0.30% of the population. We assessed breast cancer (BC) risk in rural (C1 and C2)
Externí odkaz:
https://doaj.org/article/01e8a6e4ec934eb3a767a6e2a21e647e
TERT Expression in Wilms Tumor Is Regulated by Promoter Mutation or Hypermethylation, WT1, and N-MYC
Autor:
Carolyn M. Jablonowski, Hyea Jin Gil, Emilia M. Pinto, Prahalathan Pichavaram, Andrew M. Fleming, Michael R. Clay, Dongli Hu, Christopher L. Morton, Shondra M. Pruett-Miller, Baranda S. Hansen, Xiang Chen, Karissa M. Dieseldorff Jones, Yanling Liu, Xiaotu Ma, Jun Yang, Andrew M. Davidoff, Gerard P. Zambetti, Andrew J. Murphy
Publikováno v:
Cancers, Vol 14, Iss 7, p 1655 (2022)
Increased TERT mRNA is associated with disease relapse in favorable histology Wilms tumor (WT). This study sought to understand the mechanism of increased TERT expression by determining the association between TERT and WT1 and N-MYC, two proteins imp
Externí odkaz:
https://doaj.org/article/f0387f372d774406b80108392bfeaa83
Autor:
Gerard P. Zambetti, Raul C. Ribeiro, Carlos Rodriguez-Galindo, Michael R. Clay, Jinling Wang, Roya Mostafavi, Kim E. Nichols, Richard Kriwacki, Maria N. Formiga, Kelsey Breen, Michael F. Walsh, Suzanne MacFarland, Jacquelyn Powers, Aaron Phillips, Hadeel Halalsheh, Kara N. Maxwell, Emilia M. Pinto
Pintotable1.xlsxTable S1a. Cohort characteristicsTable S1b. Frequencies and features of TP53 variants at codon 125 in public databasesTable S1c. Annotation and interpretation of TP53 variants at codon 125 and surrounding basesTable S1d. Splice site p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226ae274c89df5f05417c264983b788b
https://doi.org/10.1158/1541-7786.22527977
https://doi.org/10.1158/1541-7786.22527977
Autor:
Gerard P. Zambetti, Raul C. Ribeiro, Carlos Rodriguez-Galindo, Michael R. Clay, Jinling Wang, Roya Mostafavi, Kim E. Nichols, Richard Kriwacki, Maria N. Formiga, Kelsey Breen, Michael F. Walsh, Suzanne MacFarland, Jacquelyn Powers, Aaron Phillips, Hadeel Halalsheh, Kara N. Maxwell, Emilia M. Pinto
S1. Proband pedigrees. S2. TP53 status as determined by Multiplex Ligation Probe Amplification for Saos-2 and H1299 cell lines. S3. TP53 altering splice variants in the (a) IARC database (b) PCGP database. (c) Total germline TP53 variants observed in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb0c6d04a038dda02387697e1a88e73
https://doi.org/10.1158/1541-7786.22527974
https://doi.org/10.1158/1541-7786.22527974
Autor:
Gerard P. Zambetti, Raul C. Ribeiro, Stanley Pounds, Wenan Chen, Carlos Rodriguez-Galindo, Alberto S. Pappo, Bonald C. Figueiredo, Enzo Lalli, Guillermina Lozano, Richard J. Heath, Geoffrey Neale, Jinling Wang, Michael R. Clay, Jerold E. Rehg, Emilia M. Pinto, John R. Jeffers
Strong nuclear staining of mutant TP53-R337H protein in normal tissue of carriers who developed ACC.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92ad77f823b3f7febdb203507dd8cca0
https://doi.org/10.1158/0008-5472.22430475
https://doi.org/10.1158/0008-5472.22430475
Autor:
Gerard P. Zambetti, Raul C. Ribeiro, Stanley Pounds, Wenan Chen, Carlos Rodriguez-Galindo, Alberto S. Pappo, Bonald C. Figueiredo, Enzo Lalli, Guillermina Lozano, Richard J. Heath, Geoffrey Neale, Jinling Wang, Michael R. Clay, Jerold E. Rehg, Emilia M. Pinto, John R. Jeffers
Mouse Cohorts and Associated Pathology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15824bbc63ea56bc3cbee75db5a98b67
https://doi.org/10.1158/0008-5472.22430451
https://doi.org/10.1158/0008-5472.22430451
Autor:
Gerard P. Zambetti, Raul C. Ribeiro, Stanley Pounds, Wenan Chen, Carlos Rodriguez-Galindo, Alberto S. Pappo, Bonald C. Figueiredo, Enzo Lalli, Guillermina Lozano, Richard J. Heath, Geoffrey Neale, Jinling Wang, Michael R. Clay, Jerold E. Rehg, Emilia M. Pinto, John R. Jeffers
The TP53-R337H founder mutation exists at a high frequency throughout southern Brazil and represents one of the most common germline TP53 mutations reported to date. It was identified in pediatric adrenocortical tumors in families with a low incidenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57457eee8b893667a15d30dc48dfd22f
https://doi.org/10.1158/0008-5472.c.6513618.v1
https://doi.org/10.1158/0008-5472.c.6513618.v1