A5074298243- Epigenetics and DNA Methylation
- Cutaneous Melanoma Detection and Management
- Pluripotent Stem Cells Research
- Cancer Genomics and Diagnostics
- Immunotherapy and Immune Responses
- CRISPR and Genetic Engineering
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- melanin and skin pigmentation
- Tissue Engineering and Regenerative Medicine
- CAR-T cell therapy research
- Cancer-related gene regulation
- Renal and related cancers
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Prenatal Screening and Diagnostics
- 3D Printing in Biomedical Research
- vaccines and immunoinformatics approaches
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
AC Camargo Hospital
2014-2023
Universidade de São Paulo
2010-2015
Imprinted inactivation of the paternal X chromosome in marsupials is primordial mechanism dosage compensation for X-linked genes between females and males Therians. In Eutherian mammals, (XCI) evolved into a random process cells from embryo proper, where either maternal or can be inactivated. However, species like mouse bovine maintained imprinted XCI exclusively extraembryonic tissues. The existence humans remains controversial, with studies based on analyses only one two different Here we...
// Mariana Maschietto 1, * , Tatiane Cristina Rodrigues 2, André Yoshiaki Kashiwabara 3 Érica Sara Souza de Araujo 4 Talita Ferreira Marques Aguiar Cecilia Maria Lima da Costa 5 Isabela Werneck Cunha 6 Luciana dos Reis Vasques 2 Monica Cypriano 7 Helena Brentani 8 Silvia Regina Caminada Toledo Peter Lees Pearson Dirce Carraro Carla Rosenberg Ana C.V. Krepischi 1 Brazilian Biosciences National Laboratory (LNBio), Center for Research in Energy and Materials (CNPEM), Campinas, Brazil Department...
Aberrant DNA methylation pattern is a well-known epigenetic marker of cancer cells. Recently, aberrant was also reported in the peripheral blood patients and it could potentially serve as biomarker for risk. We investigated LINE-1 other repetitive elements cutaneous melanoma order to search an association with clinical characteristics. The patient cohort composed by 69 unrelated patients, 28 whom were hereditary cases (with or without CDKN2A mutations) 41 isolated (sporadic) cases....
In melanoma development, oncogenic process is mediated by genetic and epigenetic mutations, few studies have so far explored the role of DNA methylation either as predisposition factor or biomarker. We tested patient samples for germline CDKN2A status found no evidence inactivation promoter hypermethylation. also investigated association clinical characteristics with pattern twelve genes relevant melanomagenesis. Five ( BAP1, MGMT, MITF, PALB2 , POT1 ) presented statistical between blood...
Aims: Constitutive genetic factors are believed to predispose cancer in children. This study investigated the role of rare germline copy number variations (CNVs) pediatric predisposition. Patients & methods: A total 54 patients who developed infancy were screened by array-CGH for CNVs. Results: In total, 12 CNVs detected, including a Xq27.2 triplication, and two >1.8 Mb deletions: one them at 13q31, containing only RNA genes, another 3q26.33–q27.1, patient with congenital malformations....
BACKGROUND: Approximately five to 10% of all melanomas occur in families with hereditary predisposition and the main high-risk melanoma susceptibility gene is CDKN2A. OBJECTIVES: To describe, after a five-years study, clinical data patients (probands) from familial kindreds, pathological characteristics their melanoma. METHODS: The inclusion criteria were family history or pancreatic cancer (first- second-degree relatives) multiple primary (MPM). RESULTS: A total 124 probands studied, where...
Melanoma is a highly aggressive cancer, accounting for up to 75% of skin cancer deaths. A small proportion melanoma cases can be ascribed the presence penetrant germline mutations, and approximately 40% hereditary are caused by CDKN2A mutations. The current study sought investigate whether mutations or occurrence cutaneous would result in constitutive genome-wide DNA methylation changes. leukocyte methylomes two groups patients (those with those without mutations) were analyzed together...
DNA methylation is essential in X chromosome inactivation and genomic imprinting, maintaining repression of XIST the active monoallelic imprinted genes. Disruption methyltransferase genes DNMT1 DNMT3B HCT116 cell line (DKO cells) leads to global hypomethylation biallelic expression gene IGF2 but does not lead reactivation expression, suggesting that due a more stable epigenetic mark than imprinting. To test this hypothesis, we induced acute cells by 5-aza-2'-deoxycytidine (5-aza-CdR)...
Increased genetic risk for melanoma can occur in the context of germline pathogenic variants high-penetrance genes, such as CDKN2A and CDK4, low- to moderate-penetrance genes (MC1R MITF), possibly due emerging ACD, TERF2IP, TERT. We aimed identify high- Brazilian patients with clinical criteria familial syndrome. selected three or more melanomas from families tumors (melanoma pancreatic cancer) first- second-degree relatives. Genetic testing was performed a nine-gene panel (ACD, BAP1,...