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Your search keyword '"Donaires, Flávia S."' showing total 20 results
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20 results on '"Donaires, Flávia S."'

2. Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

Author

Gutierrez-Rodrigues, Fernanda, Groarke, Emma M., Thongon, Natthakan, Rodriguez-Sevilla, Juan Jose, Catto, Luiz Fernando B., Niewisch, Marena R., Shalhoub, Ruba, McReynolds, Lisa J., Clé, Diego V., Patel, Bhavisha A., Ma, Xiaoyang, Hironaka, Dalton, Donaires, Flávia S., Spitofsky, Nina, Santana, Barbara A., Lai, Tsung-Po, Alemu, Lemlem, Kajigaya, Sachiko, Darden, Ivana, Zhou, Weiyin, Browne, Paul V., Paul, Subrata, Lack, Justin, Young, David J., DiNardo, Courtney D., Aviv, Abraham, Ma, Feiyang, De Oliveira, Michel Michels, de Azambuja, Ana Paula, Dunbar, Cynthia E., Olszewska, Malgorzata, Olivier, Emmanuel, Papapetrou, Eirini P., Giri, Neelam, Alter, Blanche P., Bonfim, Carmem, Wu, Colin O., Garcia-Manero, Guillermo, Savage, Sharon A., Young, Neal S., Colla, Simona, and Calado, Rodrigo T.

Published
2024
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3. Telomeric repeat-containing RNA is dysregulated in acute myeloid leukemia

Author

Catto, Luiz Fernando B., Zanelatto, Leonardo C., Donaires, Flavia S., de Carvalho, Vinicius S., Santana, Bárbara A., Pinto, André L., Fantacini, Daianne, de Souza, Lucas Eduardo B., Fonseca, Natasha P., Telho, Bruno S., Ayrosa Madeira, Maria Isabel, Barbosa Pagnano, Katia Borgia, Firmato, Ana Beatriz, Fagundes, Evandro Maranhão, Higashi, Marcia, Nunes, Elenaide Coutinho, Traina, Fabiola, Lobo de F. Pontes, Lorena, Rego, Eduardo M., and Calado, Rodrigo T.

Published
2023
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4. Differential diagnosis of bone marrow failure syndromes guided by machine learning

Author

Gutierrez-Rodrigues, Fernanda, Munger, Eric, Ma, Xiaoyang, Groarke, Emma M., Tang, Youbao, Patel, Bhavisha A., Catto, Luiz Fernando B., Clé, Diego V., Niewisch, Marena R., Alves-Paiva, Raquel M., Donaires, Flávia S., Pinto, André Luiz, Borges, Gustavo, Santana, Barbara A., McReynolds, Lisa J., Giri, Neelam, Altintas, Burak, Fan, Xing, Shalhoub, Ruba, Siwy, Christopher M., Diamond, Carrie, Raffo, Diego Quinones, Craft, Kathleen, Kajigaya, Sachiko, Summers, Ronald M., Liu, Paul, Cunningham, Lea, Hickstein, Dennis D., Dunbar, Cynthia E., Pasquini, Ricardo, De Oliveira, Michel Michels, Velloso, Elvira D. R. P., Alter, Blanche P., Savage, Sharon A., Bonfim, Carmem, Wu, Colin O., Calado, Rodrigo T., and Young, Neal S.

Published
2023
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7. Pathogenic TERT promoter variants in telomere diseases

Author

Gutierrez-Rodrigues, Fernanda, Donaires, Flávia S., Pinto, André, Vicente, Alana, Dillon, Laura W., Clé, Diego V., Santana, Barbara A., Pirooznia, Mehdi, Ibanez, Maria del Pilar F., Townsley, Danielle M., Kajigaya, Sachiko, Hourigan, Christopher S., Cooper, James N., Calado, Rodrigo T., and Young, Neal S.

Published
2019
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9. Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms

Author

Marsh, Judith C.W., Gutierrez-Rodrigues, Fernanda, Cooper, James, Jiang, Jie, Gandhi, Shreyans, Kajigaya, Sachiko, Feng, Xingmin, Ibanez, Maria del Pilar F., Donaires, Flávia S., Lopes da Silva, João P., Li, Zejuan, Das, Soma, Ibanez, Maria, Smith, Alexander E., Lea, Nicholas, Best, Steven, Ireland, Robin, Kulasekararaj, Austin G., McLornan, Donal P., Pagliuca, Anthony, Callebaut, Isabelle, Young, Neal S., Calado, Rodrigo T., Townsley, Danielle M., and Mufti, Ghulam J

Published
2018
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12. Genomic-Based Machine Learning Towards Prediction of the Etiology of Bone Marrow Failure Syndromes

Author

Gutierrez-Rodrigues, Fernanda, Munger, Eric, Ma, Xiaoyang, Tang, Youbao, Groarke, Emma M, Patel, Bhavisha A., Catto, Luiz Fernando Bazzo, Clé, Diego V, Niewisch, Marena R., Donaires, Flávia S, Kajigaya, Sachiko, Dunbar, Cynthia E., Giri, Neelam, De Oliveira, Michel Michels, McReynolds, Lisa J., Alter, Blanche P., Savage, Sharon A., Bonfim, Carmem M.S., Wu, Colin O., Calado, Rodrigo T., and Young, Neal S.

Published
2021
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16. Towards Improved Decision-Making Based on Genomics in Bone Marrow Failure

Author

Gutierrez-Rodrigues, Fernanda, Diamond, Carrie, Shalhoub, Ruba, Pinto, André, Donaires, Flávia S, Clé, Diego V, Darrigo, Luiz Guilherme, Catto, Luiz Fernando, Fan, Xing, Fernandez Ibanez, Maria del Pilar, Kajigaya, Sachiko, Dunbar, Cynthia E., Bonfim, Carmem M.S., Townsley, Danielle M., Calado, Rodrigo T., and Young, Neal S.

Published
2018
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18. Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma.

Author

Donaires, Flávia S., Scatena, Natália F., Alves-Paiva, Raquel M., Podlevsky, Joshua D., Logeswaran, Dhenugen, Santana, Barbara A., Teixeira, Andreza C., Chen, Julian J.-L., Calado, Rodrigo T., and Martinelli, Ana L. C.

Subjects
*NUCLEOTIDE sequence, *NUCLEOTIDE sequencing, *LIVER cancer, *TELOMERES, *CIRRHOSIS of the liver, *PATIENTS
Abstract

Telomeres are repetitive DNA sequences at linear chromosome termini, protecting chromosomes against end-to-end fusion and damage, providing chromosomal stability. Telomeres shorten with mitotic cellular division, but are maintained in cells with high proliferative capacity by telomerase. Loss-of-function mutations in telomere-maintenance genes are genetic risk factors for cirrhosis development in humans and murine models. Telomerase deficiency provokes accelerated telomere shortening and dysfunction, facilitating genomic instability and oncogenesis. Here we examined whether telomerase mutations and telomere shortening were associated with hepatocellular carcinoma (HCC) secondary to cirrhosis. Telomere length of peripheral blood leukocytes was measured by Southern blot and qPCR in 120 patients with HCC associated with cirrhosis and 261 healthy subjects. HCC patients were screened for telomerase gene variants (in TERT and TERC) by Sanger sequencing. Age-adjusted telomere length was comparable between HCC patients and healthy subjects by both Southern blot and qPCR. Four non-synonymous TERT heterozygous variants were identified in four unrelated patients, resulting in a significantly higher mutation carrier frequency (3.3%) in patients as compared to controls (p = 0.02). Three of the four variants (T726M, A1062T, and V1090M) were previously observed in patients with other telomere diseases (severe aplastic anemia, acute myeloid leukemia, and cirrhosis). A novel TERT variant, A243V, was identified in a 65-year-old male with advanced HCC and cirrhosis secondary to chronic hepatitis C virus (HCV) and alcohol ingestion, but direct assay measurements in vitro did not detect modulation of telomerase enzymatic activity or processivity. In summary, constitutional variants resulting in amino acid changes in the telomerase reverse transcriptase were found in a small proportion of patients with cirrhosis-associated HCC. [ABSTRACT FROM AUTHOR]

Published
2017
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19. E2F transcription factors associated with up-regulated genes in glioblastoma.

Author

Donaires, Flávia S., Godoy, Paulo R. D. V., Leandro, Giovana S., Puthier, Denis, and Sakamoto-Hojo, Elza T.

Subjects
*GLIOBLASTOMA multiforme treatment, *TRANSCRIPTION factors, *GENETIC regulation, *BIOINFORMATICS, *MOLECULAR biology
Abstract

BACKGROUND: Glioblastoma is considered to the most common and malignant brain tumor in adults. Patients have a median survival of approximately one year from diagnosis due to poor response to therapy. OBJECTIVE: We applied bioinformatics approaches to predict transcription factors (TF) that are deregulated in glioblastoma in an attempt to point out molecular targets for therapy. METHODS: Up-regulated genes in glioblastoma selected from public microarray data were submitted to two TF association analyses. Thereafter, the expression levels of TF obtained in the overlap of analyses were assessed by RT-qPCR carried out in seven glioblastoma cell lines (T98, U251, U138, U87, U343, M059J, and M059K). RESULTS: E2F1 and E2F4 were highlighted in both TF analyses. However, only E2F1 was confirmed as significantly upregulated in all glioblastoma cell lines in vitro. CONCLUSION: E2F1 is a potential common regulator of differentially expressed genes in glioblastoma, despite the genetic heterogeneity of tumor cells. [ABSTRACT FROM AUTHOR]

Published
2017
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20. Effects of nandrolone decanoate on telomere length and clinical outcome in patients with telomeropathies: a prospective trial.

Author

Clé DV, Catto LFB, Gutierrez-Rodrigues F, Donaires FS, Pinto AL, Santana BA, Darrigo LG, Valera ET, Koenigkam-Santos M, Baddini-Martinez J, Young NS, Martinez EZ, and Calado RT

Subjects
Humans, In Situ Hybridization, Fluorescence, Nandrolone Decanoate, Prospective Studies, Retrospective Studies, Telomere, Lung Diseases, Interstitial
Abstract

Androgens have been reported to elongate telomeres in retrospective and prospective trials with patients with telomeropathies, mainly with bone marrow failure. In our single-arm prospective clinical trial (clinicaltrials gov. Identifier: NCT02055456), 17 patients with short telomeres and/or germline pathogenic variants in telomere biology genes associated with at least one cytopenia and/or radiologic diagnosis of interstitial lung disease were treated with 5 mg/kg of intramuscular nandrolone decanoate every 15 days for 2 years. Ten of 13 evaluable patients (77%) showed telomere elongation at 12 months by flow-fluorescence in situ hybridization (average increase, 0.87 kb; 95% confidence interval: 0.20-1.55 kb; P=0.01). At 24 months, all ten evaluable patients showed telomere elongation (average increase, 0.49 kb; 95% confidence interval: 0.24-1.23 kb; P=0.18). Hematologic response was achieved in eight of 16 patients (50%) with marrow failure at 12 months, and in ten of 16 patients (63%) at 24 months. Seven patients had interstitial lung disease at baseline, and two and three had pulmonary response at 12 and 24 months, respectively. Two patients died due to pulmonary failure during treatment. In the remaining evaluable patients, the pulmonary function remained stable or improved, but showed consistent decline after cessation of treatment. Somatic mutations in myeloid neoplasm-related genes were present in a minority of patients and were mostly stable during drug treatment. The most common adverse events were elevations in liver function test levels in 88%, acne in 59%, and virilization in 59%. No adverse events grade ≥4 was observed. Our findings indicate that nandrolone decanoate elongates telomeres in patients with telomeropathies, which correlated with clinical improvement in some cases and tolerable adverse events.

Published
2023
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