Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Thiago T, Gomes"'
Autor:
Thales C. Nepomuceno, Ana P. P. dos Santos, Vanessa C. Fernandes, Anna B. R. Elias, Thiago T. Gomes, Guilherme Suarez-Kurtz, Edwin S. Iversen, Fergus J. Couch, Alvaro N. A. Monteiro, Marcelo A. Carvalho
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract BRCA1 (Breast Cancer 1, early onset) is linked to breast and ovarian cancer predisposition. Still, the risks conferred by a significant portion of BRCA1 variants identified in the population remains unknown. Most of these variants of uncerta
Externí odkaz:
https://doaj.org/article/decf3abb40d44c9c8d643204604e436b
Autor:
Renata B. V. Abreu, Thiago T. Gomes, Thales C. Nepomuceno, Xueli Li, Mateus Fuchshuber-Moraes, Giuliana De Gregoriis, Guilherme Suarez-Kurtz, Alvaro N. A. Monteiro, Marcelo A. Carvalho
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
BRCA1 is a major tumor suppressor that functions in the accurate repair of DNA double-strand breaks via homologous recombination (HR). Nonsense mutations in BRCA1 lead to inactive truncated protein products and are associated with high risk of breast
Externí odkaz:
https://doaj.org/article/7d50829b184947b5905f3922f653d4a3
Autor:
Bing Xia, Kajal Biswas, Tzeh K. Foo, Thiago T. Gomes, Maximilian Riedel‐Topper, Eileen Southon, Zhihua Kang, Yanying Huo, Susan Reid, Stacey Stauffer, Weiyin Zhou, Bin Zhu, Hela Koka, Sally Yepes, Seth A. Brodie, Kristine Jones, Aurelie Vogt, Brian Carter, Neal D. Freedman, Belynda Hicks, Meredith Yeager, Stephen J. Chanock, Fergus Couch, Dilys M. Parry, Alvaro N. Monteiro, Alisa M. Goldstein, Marcelo A. Carvalho, Shyam K. Sharan, Xiaohong R. Yang
Publikováno v:
Human mutation. 43(10)
Chordoma is a rare bone tumor with genetic risk factors largely unknown. We conducted a whole-exome sequencing (WES) analysis of germline DNA from 19 familial chordoma cases in five pedigrees and 137 sporadic chordoma patients and identified 17 rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7730008552244638cbdbd8849bcee092
https://pubmed.ncbi.nlm.nih.gov/35762214
https://pubmed.ncbi.nlm.nih.gov/35762214
Autor:
Renata B V, Abreu, Thiago T, Gomes, Thales C, Nepomuceno, Xueli, Li, Mateus, Fuchshuber-Moraes, Giuliana, De Gregoriis, Guilherme, Suarez-Kurtz, Alvaro N A, Monteiro, Marcelo A, Carvalho
Publikováno v:
Frontiers in pharmacology. 13
BRCA1 is a major tumor suppressor that functions in the accurate repair of DNA double-strand breaks via homologous recombination (HR). Nonsense mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7aa173603fc7b652896f56ceaad7e524
https://pubmed.ncbi.nlm.nih.gov/35837282
https://pubmed.ncbi.nlm.nih.gov/35837282
Autor:
Mandy Ducy, Jacques Simard, Bing Xia, Fergus J. Couch, Amélie Rodrigue, Chunling Hu, Thiago T. Gomes, Tzeh Keong Foo, Alvaro N.A. Monteiro, Timothy D. Wiltshire, Marcelo A. Carvalho, Jean-Yves Masson, Anil Belur Nagaraj, Kun Y. Lee
Publikováno v:
Genetics in Medicine
Purpose Inherited pathogenic variants in PALB2 are associated with increased risk of breast and pancreatic cancer. However, the functional and clinical relevance of many missense variants of uncertain significance (VUS) identified through clinical ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b0e1811d3d56de39359285af91a3ef
https://doi.org/10.1038/s41436-019-0682-z
https://doi.org/10.1038/s41436-019-0682-z
Autor:
Fergus J. Couch, Guilherme Suarez-Kurtz, Alvaro N.A. Monteiro, Carly M. Harro, Ricceli F. Silva, Cara Shields, Volha A. Golubeva, Kwabena Amankwah, Marcelo A. Carvalho, Vanessa C. Fernandes, Thales C. Nepomuceno, Edwin S. Iversen, Giuliana de Gregoriis, Thiago T. Gomes, Renata B. V. Abreu, Giuliano Di Pietro
Publikováno v:
Journal of Biological Chemistry. 294:5980-5992
Genetic testing for BRCA1, a DNA repair protein, can identify carriers of pathogenic variants associated with a substantially increased risk for breast and ovarian cancers. However, an association with increased risk is unclear for a large fraction o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e068be9b66df7095124de81b30b9adc
https://doi.org/10.1074/jbc.ra118.005274
https://doi.org/10.1074/jbc.ra118.005274
Autor:
Simone da Costa e Silva Carvalho, Mandy Ducy, Jean-Yves Masson, Giuliana De-Gregoriis, Amélie Rodrigue, Thiago T. Gomes, Gemma Montalban, Marcelo A. Carvalho, Guillaume Margaillan, Larissa Milano, Wilson A. Silva, Yan Coulombe, Graham Dellaire, Alvaro N.A. Monteiro, Jacques Simard
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Nucleic Acids Research
Universidade de São Paulo (USP)
instacron:USP
Nucleic Acids Research
While biallelic mutations in the PALB2 tumor suppressor cause Fanconi anemia subtype FA-N, monoallelic mutations predispose to breast and familial pancreatic cancer. Although hundreds of missense variants in PALB2 have been identified in patients to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f3dedc1277771097d81e17851ac957
Autor:
Giuliana De Gregoris, Vanessa C. Fernandes, Alvaro N.A. Monteiro, Thiago T. Gomes, Marcelo A. Carvalho, Guilherme Kurtz, Thales C. Nepomuceno, Renato S. Carvalho
Publikováno v:
Cancer Research. 75:3025-3025
BRCA1 gene encodes an 1863 amino-acid protein comprising a RING finger domain in the N-terminus and two tandem BRCT domains (tBRCT) in C-terminal region. When fused to a heterologous DNA-binding domain, BRCA1 C-terminal region is capable of activatin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0669debf844cf8525252c87a7d7ae4f8
https://doi.org/10.1158/1538-7445.am2015-3025
https://doi.org/10.1158/1538-7445.am2015-3025
Autor:
Vieira CAM; Private Practice of Orthodontics, Uberlândia, Brazil. carlosamvieira@hotmail.com., Damis Rodrigues R; Sete Lagoas College, Uberlândia, Brazil., Gomes Cardoso T; Centro Federal de Educação Tecnológica de Minas Gerais, Araxá, Brazil., Garcia-Júnior MA; Federal University of Uberlândia, Uberlândia, Brazil., Zanetta-Barbosa D; Federal University of Uberlândia, Uberlândia, Brazil.
Publikováno v:
Journal of clinical orthodontics : JCO [J Clin Orthod] 2022 Oct; Vol. 56 (10), pp. 597-603.
Autor:
Rowles JE; School of Pharmacy and Biomedical Sciences, Curtin Health Innovation Research Institute, Biosciences, Curtin University, Perth 6102, Australia., Keane KN; School of Pharmacy and Biomedical Sciences, Curtin Health Innovation Research Institute, Biosciences, Curtin University, Perth 6102, Australia., Gomes Heck T; Physiology Research Group, Graduate Program in Integral Attention to Health (PPGAIS-UNIJUÍ/UNICRUZ) and Graduate Program in Mathematical and Computational Modeling, Regional University of Northwestern Rio Grande do Sul State (UNIJUÍ), Ijuí, RS 98700-000, Brazil., Cruzat V; Faculty of Health, Torrens University Australia, Melbourne 3000, Australia., Verdile G; School of Pharmacy and Biomedical Sciences, Curtin Health Innovation Research Institute, Biosciences, Curtin University, Perth 6102, Australia.; School of Medical and Health Sciences, Edith Cowan University, Joondalup 6027, Australia., Newsholme P; School of Pharmacy and Biomedical Sciences, Curtin Health Innovation Research Institute, Biosciences, Curtin University, Perth 6102, Australia.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2020 Nov 02; Vol. 21 (21). Date of Electronic Publication: 2020 Nov 02.