Zobrazeno 1 - 10
of 275
pro vyhledávání: '"Patricia Ashton-Prolla"'
Autor:
YiQing Lü, Tiffany Cho, Saptaparna Mukherjee, Carmen Florencia Suarez, Nicolas S Gonzalez-Foutel, Ahmad Malik, Sebastien Martinez, Dzana Dervovic, Robin Hyunseo Oh, Ellen Langille, Khalid N Al-Zahrani, Lisa Hoeg, Zhen Yuan Lin, Ricky Tsai, Geraldine Mbamalu, Varda Rotter, Patricia Ashton-Prolla, Jason Moffat, Lucia Beatriz Chemes, Anne-Claude Gingras, Moshe Oren, Daniel Durocher, Daniel Schramek
Publikováno v:
Molecular Systems Biology, Vol 20, Iss 6, Pp 719-740 (2024)
Abstract Tumor suppressor p53 (TP53) is frequently mutated in cancer, often resulting not only in loss of its tumor-suppressive function but also acquisition of dominant-negative and even oncogenic gain-of-function traits. While wild-type p53 levels
Externí odkaz:
https://doaj.org/article/4644b709c6d143dfb92c748768749b96
Autor:
Natalia Campacci, Rebeca Silveira Grasel, Henrique de Campos Reis Galvão, Lucas França Garcia, Paula Carvalho Ribeiro, Kercy Fram de Jesus de Sena Pereira, José Roberto Goldim, Patricia Ashton-Prolla, Edenir Inêz Palmero
Publikováno v:
Frontiers in Psychology, Vol 15 (2024)
IntroductionCancer Genetic Counseling (CGC) and genetic testing (GT) assume a paramount role for hereditary cancer predisposition syndrome families. We assessed the effects of CGC and GT on women affected by cancer who are at risk for hereditary brea
Externí odkaz:
https://doaj.org/article/ac6b1c0b14a14b17b4e1c102022c97c2
Autor:
Arthur Bandeira de Mello Garcia, Guilherme Danielski Viola, Bruno da Silveira Corrêa, Taís da Silveira Fischer, Maria Clara de Freitas Pinho, Grazielle Motta Rodrigues, Patricia Ashton-Prolla, Clévia Rosset
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2024)
Abstract Tuberous Sclerosis Complex (TSC) is caused by loss of function germline variants in the TSC1 or TSC2 tumor suppressor genes. Genetic testing for the detection of pathogenic variants in either TSC1 or TSC2 was implemented as a diagnostic crit
Externí odkaz:
https://doaj.org/article/f61dd32b65814e0d97cdb2432e140347
Autor:
Igor Araujo Vieira, Guilherme Danielski Viola, Eduarda Heidrich Pezzi, Thayne Woycinck Kowalski, Bruna Vieira Fernandes, Tiago Finger Andreis, Natascha Bom, Giulianna Sonnenstrahl, Yasminne Marinho de Araújo Rocha, Bruno da Silveira Corrêa, Luiza Mezzomo Donatti, Gabriela dos Santos Sant’Anna, Helena von Eye Corleta, Ilma Simoni Brum, Clévia Rosset, Fernanda Sales Luiz Vianna, Gabriel S. Macedo, Edenir Inez Palmero, Patricia Ashton-Prolla
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2024)
Abstract The TP53 3’UTR variant rs78378222 A>C has been detected in different tumor types as a somatic alteration that reduces p53 expression through modification of polyadenylation and miRNA regulation. Its prevalence is not yet known in all tumor
Externí odkaz:
https://doaj.org/article/1842083036564d94b5d4456d0ea54ce3
Autor:
Maria Cecilia Mathias-Machado, Renata D. Peixoto, Patricia Ashton-Prolla, Leonard Medeiros da Silva, Rodrigo Dienstmann
Publikováno v:
Case Reports in Oncology, Vol 16, Iss 1, Pp 504-510 (2023)
MUTYH-associated polyposis syndrome is an uncommon, autosomal recessive colorectal polyposis syndrome caused by biallelic inactivation of MUTYH. Most patients present with multiple colorectal polyps. However, other primary tumor sites have been descr
Externí odkaz:
https://doaj.org/article/3569a16ebcf14740aa9dd17bb8deb0b0
Autor:
JULIANO ANDRÉ BOQUETT, FERNANDA S.L. VIANNA, NELSON J.R. FAGUNDES, LUCAS SCHROEDER, MARCIA BARBIAN, MARCELO ZAGONEL-OLIVEIRA, TIAGO F. ANDREIS, LUIS CRISTÓVÃO M.S. PÔRTO, JOSÉ ARTUR B. CHIES, LAVINIA SCHULER-FACCINI, PATRICIA ASHTON-PROLLA, CLÉVIA ROSSET
Publikováno v:
Anais da Academia Brasileira de Ciências, Vol 95, Iss 3 (2023)
Abstract The coronavirus disease 2019 (COVID-19) mortality rates varied among the states of Brazil during the course of the pandemics. The human leukocyte antigen (HLA) is a critical component of the antigen presentation pathway. Individuals with dif
Externí odkaz:
https://doaj.org/article/10490b44b3cb4b5687fb8982d2071151
Autor:
Juliana Giacomazzi, Patricia Klarmann Ziegelmann, Samanta da Costa, Camila Matzenbacher Bittar, Fernando Mariano Obst, Clévia Rosset, Gabriel S. Macedo, Hugo Bock, Thais Canal, Mari Ines Paese, Jean Lucas Benvenuti, Maria Carolina Buj, Patricia Ashton-Prolla, José Roberto Goldim, Roberta Pozza
Publikováno v:
JCO Global Oncology, Vol , Iss 9 (2023)
PURPOSETo evaluate cancer risk factors among cancer cases and controls from Southern Brazil, to analyze a multigene hereditary panel testing (MGPT, 26 genes) for breast cancer (BC) and colorectal cancer (CCR) cases diagnosed age younger than 50 years
Externí odkaz:
https://doaj.org/article/6ecf9af14bc44aa09e5bcac27e848684
Publikováno v:
PLoS ONE, Vol 18, Iss 5, p e0284866 (2023)
One of the main factors that attracts authors to choose a journal is the time interval between submission and publication, which varies between journals and subject matter. Here, we evaluated the time intervals between submission and publication acco
Externí odkaz:
https://doaj.org/article/f093f5db16a142899a852943cbb052b3
Autor:
Josef S. Herzog, Yanin Chavarri-Guerra, Danielle Castillo, Julio Abugattas, Cynthia Villarreal-Garza, Sharon Sand, Jessica Clague-Dehart, Rosa M. Alvarez-Gómez, Talia Wegman-Ostrosky, Alejandro Mohar, Pamela Mora, Azucena Del Toro-Valero, Adrian Daneri-Navarro, Yenni Rodriguez, Marcia Cruz-Correa, Patricia Ashton-Prolla, Bárbara Alemar, Rosa Mejia, Lenny Gallardo, Robin Shaw, Kai Yang, Aleck Cervantes, Kevin Tsang, Bita Nehoray, Hugo Barrera Saldana, Susan Neuhausen, Jeffrey N. Weitzel
Publikováno v:
npj Breast Cancer, Vol 7, Iss 1, Pp 1-8 (2021)
Abstract The prevalence and contribution of BRCA1/2 (BRCA) pathogenic variants (PVs) to the cancer burden in Latin America are not well understood. This study aims to address this disparity. BRCA analyses were performed on prospectively enrolled Lati
Externí odkaz:
https://doaj.org/article/cf08a7f700d74cf8b958e3c34a9237a2
Autor:
Carlos Andrés Ossa Gomez, Maria Isabel Achatz, Mabel Hurtado, María Carolina Sanabria-Salas, Yasser Sullcahuaman, Yanin Chávarri-Guerra, Julie Dutil, Sarah M. Nielsen, Edward D. Esplin, Scott T. Michalski, Sara L. Bristow, Kathryn E. Hatchell, Robert L. Nussbaum, Daniel E. Pineda-Alvarez, Patricia Ashton-Prolla
Publikováno v:
JCO Global Oncology, Vol , Iss 8 (2022)
PURPOSETo report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic individuals from the United Stat
Externí odkaz:
https://doaj.org/article/43db6d9fc94e42e6a1310cb54ca51222