• Comparative genomics identifies putative interspecies mechanisms underlying crbn-sall4-linked thalidomide embryopathy 

      Kowalski, Thayne Woycinck; Garcia, Gabriela Barreto Caldas; Gomes, Julia do Amaral; Fraga, Lucas Rosa; Faccini, Lavinia Schuler; Recamonde-Mendoza, Mariana; Paixão Côrtes, Vanessa Rodrigues; Vianna, Fernanda Sales Luiz (2021) [Artigo de periódico]
      The identification of thalidomide–Cereblon-induced SALL4 degradation has brought new understanding for thalidomide embryopathy (TE) differences across species. Some questions, however, regarding species variability, still ...
    • CRL4-Cereblon complex in Thalidomide Embryopathy : a translational investigation 

      Kowalski, Thayne Woycinck; Gomes, Julia do Amaral; Garcia, Gabriela Barreto Caldas; Fraga, Lucas Rosa; Paixão Côrtes, Vanessa Rodrigues; Recamonde-Mendoza, Mariana; Sanseverino, Maria Teresa Vieira; Faccini, Lavinia Schuler; Vianna, Fernanda Sales Luiz (2020) [Artigo de periódico]
      The Cereblon-CRL4 complex has been studied predominantly with regards to thalidomide treatment of multiple myeloma. Nevertheless, the role of Cereblon-CRL4 in Thalidomide Embryopathy (TE) is still not understood. Not all ...
    • Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care 

      Prolla, Patrícia Ashton; Giacomazzi, Juliana; Schmidt, Aishameriane Venes; Roth, Fernanda Lenara; Palmero, Edenir Inêz; Kalakun, Luciane; Aguiar, Ernestina Silva de; Moreira, Susana Mayer; Batassini, Érica; Belo-Reyes, Vanessa; Faccini, Lavinia Schuler; Giugliani, Roberto; Caleffi, Maira; Camey, Suzi Alves (2009) [Artigo de periódico]
      Background: Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed ...
    • Evaluation of polymorphisms in toll-like receptor genes as biomarkers of the response to treatment of Erythema nodosum leprosum 

      Fiuza, Miriãn Ferrão Maciel; Costa, Perpétua do Socorro Silva; Kowalski, Thayne Woycinck; Faccini, Lavinia Schuler; Bonamigo, Renan Rangel; Vetoratto, Rodrigo; Eidt, Leticia Maria; Moraes, Paulo Cezar de; Silveira, Maria Irismar da Silva; Camargo, Luís Marcelo Aranha; Callegari-Jacques, Sidia Maria; Castro, Stela Maris de Jezus; Vianna, Fernanda Sales Luiz (2022) [Artigo de periódico]
      Erythema nodosum leprosum (ENL) is an inflammatory complication caused by a dysregulated immune response to Mycobacterium leprae. Some Toll-like receptors (TLRs) have been identified as capable of recognizing antigens from ...
    • GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submetted to breast cancer screening 

      Aguiar, Ernestina Silva de; Giacomazzi, Juliana; Schmidt, Aishameriane Venes; Bock, Hugo; Pereira, Maria Luiza Saraiva; Faccini, Lavinia Schuler; Duarte Filho, Dakir Lourenço; Santos, Pollyanna Almeida Costa dos; Giugliani, Roberto; Caleffi, Maira; Camey, Suzi Alves; Prolla, Patrícia Ashton (2012) [Artigo de periódico]
      Polimorfismos genéticos em genes relacionados com o metabolismo de xenobióticos, como os genes da superfamília das glutationa S-transferases (GSTM1, GSTT1 e GSTP1) têm sido associados com o aumento do risco para câncer de ...
    • HLA haplotypes and differential regional mortality caused by COVID-19 in Brazil: an ecological study based on a large bone marrow donor bank dataset 

      Boquett, Juliano André; Vianna, Fernanda Sales Luiz; Fagundes, Nelson Jurandi Rosa; Schroeder, Lucas; Barbian, Márcia Helena; Oliveira, Marcelo Zagonel de; Andreis, Tiago Finger; Pôrto, Luis Cristóvão de Moraes Sobrino; Chies, Jose Artur Bogo; Faccini, Lavinia Schuler; Prolla, Patrícia Ashton; Rosset, Clévia (2023) [Artigo de periódico]
      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. ...
    • Implications of the admixture process in skin color molecular assessment 

      Cerqueira, Caio Cesar Silva de; Hunemeier, Tábita; Gómez Valdés, Jorge A.; Ramallo, Virgínia; Krause, Carla Daiana Demkio Volasco; Barbosa, Ana Angélica Leal; Vargas Pinilla, Pedro; Dornelles, Rodrigo Ciconet; Longo, Dânae; Rothhammer, Francisco; Bedoya, Gabriel; Canizales-Quinteros, Samuel; Acunã Alonzo, Víctor; Gallo, Carla; Poletti, Giovanni; González-José, Rolando; Salzano, Francisco Mauro; Callegari-Jacques, Sidia Maria; Faccini, Lavinia Schuler; Ruiz-Linares, Andres; Bortolini, Maria Cátira; CANDELA - Consortium for the Analysis of the Diversity and Evolution of Latin America (2014) [Artigo de periódico]
      The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes ...
    • A new strategy for the old challenge of thalidomide : systems biology prioritization of potential immunomodulatory drug (IMiD)-targeted transcription factors 

      Kowalski, Thayne Woycinck; Feira, Mariléa Furtado; Lord, Vinicius Oliveira; Gomes, Julia do Amaral; Giudicelli, Giovanna Câmara; Fraga, Lucas Rosa; Sanseverino, Maria Teresa Vieira; Recamonde-Mendoza, Mariana; Faccini, Lavinia Schuler; Vianna, Fernanda Sales Luiz (2023) [Artigo de periódico]
      Several molecular mechanisms of thalidomide embryopathy (TE) have been investigated, from anti-angiogenesis to oxidative stress to cereblon binding. Recently, it was discovered that thalidomide and its analogs, named ...
    • Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil 

      Palmero, Edenir Inêz; Caleffi, Maira; Faccini, Lavinia Schuler; Roth, Fernanda Lenara; Kalakun, Luciane; Netto, Cristina Brinckmann Oliveira; Skonieski, Giovana; Giacomazzi, Juliana; Weber, Bernadete; Giugliani, Roberto; Camey, Suzi Alves; Prolla, Patrícia Ashton (2009) [Artigo de periódico]
      In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the ...
    • Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women 

      Giacomazzi, Juliana; Aguiar, E.; Palmero, Edenir Inêz; Schmidt, Adriana Vidal; Skonieski, Giovana; Filho, D.; Bock, Hugo; Pereira, Maria Luiza Saraiva; Ewald, Ingrid Petroni; Faccini, Lavinia Schuler; Camey, Suzi Alves; Caleffi, Maira; Giugliani, Roberto; Prolla, Patrícia Ashton (2012) [Artigo de periódico]
      Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies ...
    • Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density 

      Giacomazzi, Juliana; Aguiar, Ernestina Silva de; Palmero, Edenir Inêz; Schmidt, Aishameriane Venes; Skonieski, Giovana; Duarte Filho, Dakir Lourenço; Bock, Hugo; Pereira, Maria Luiza Saraiva; Faccini, Lavinia Schuler; Camey, Suzi Alves; Caleffi, Maira; Giugliani, Roberto; Prolla, Patrícia Ashton (2011) [Artigo de periódico]
      Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. ...
    • Reproductive outcomes in an area adjacent to a petrochemical plant in Southern Brazil 

      Oliveira, Lenice Minussi; Stein, Nina Rodrigues; Sanseverino, Maria Teresa Vieira; Vargas, Vera Maria Ferrao; Fachel, Jandyra Maria Guimarães; Faccini, Lavinia Schuler (2002) [Artigo de periódico]
      Objetivo: Avaliar os possíveis riscos reprodutivos em uma região próxima a pólo petroquímico situado no Rio Grande do Sul. Métodos: Foram analisados 17.113 registros de nascimentos ocorridos no principal hospital da região, ...
    • Twin peaks : a spatial and temporal study of twinning rates in Brazil 

      Santos, Augusto César Cardoso dos; Boquett, Juliano André; Oliveira, Marcelo Zagonel de; Callegari-Jacques, Sidia Maria; Barbian, Márcia Helena; Sanseverino, Maria Teresa Vieira; Matte, Ursula da Silveira; Faccini, Lavinia Schuler (2018) [Artigo de periódico]
      Twin births are an important public health issue due to health complications for both mother and children. While it is known that contemporary factors have drastically changed the epidemiology of twins in certain developed ...