Search Results - "Lisboa, Bianca Garcia"
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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder
Published in PloS one (24-01-2017)“…It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other…”
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Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil
Published in PloS one (01-03-2013)“…Germline mutations in BRCA1, BRCA2 and TP53 genes have been identified as one of the most important disease-causing issues in young breast cancer patients…”
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Hydrodynamics- and ultrasound-based transfection of heart with naked plasmid DNA
Published in Human gene therapy (01-12-2007)“…A novel, efficient transfection method, based on ultrasound and hydrodynamics, has been developed to transfect heart tissue with plasmid DNA. An ultrasound…”
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Epigenetic evidence for involvement of the oxytocin receptor gene in obsessive-compulsive disorder
Published in BMC neuroscience (30-11-2016)“…Obsessive-compulsive disorder (OCD) is a chronic neurodevelopmental disorder that affects up to 3% of the general population. Although epigenetic mechanisms…”
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Bupivacaine Injection Leads to Muscle Force Reduction and Histologic Changes in a Murine Model
Published in PM & R (01-12-2011)“…Objective To evaluate the effect of bupivacaine on muscle force and histology. We hypothesize that bupivacaine will worsen the muscle's physiological activity…”
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Putative contributions of the sex chromosome proteins SOX3 and SRY to neurodevelopmental disorders
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01-09-2019)“…The male‐biased prevalence of certain neurodevelopmental disorders and the sex‐biased outcomes associated with stress exposure during gestation have been…”
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Brain areas involved with obsessive-compulsive disorder present different DNA methylation modulation
Published in BMC genetics (30-10-2021)“…Obsessive-compulsive disorder (OCD) is characterized by intrusive thoughts and repetitive actions, that presents the involvement of the cortico-striatal areas…”
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Clinical features of JAK2V617F- or CALR-mutated essential thrombocythemia and primary myelofibrosis
Published in Blood cells, molecules, & diseases (01-09-2016)Get full text
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Multiple mutations in the Kras gene in colorectal cancer: review of the literature with two case reports
Published in International journal of colorectal disease (01-10-2011)“…Purpose Kras mutations are negative predictors of anti-EGFR therapy, occurring in 40% of colorectal carcinomas (CRCs). Point substitutions in codon 12 or 13…”
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KRAS insertions in colorectal cancer: What do we know about unusual KRAS mutations?
Published in Experimental and molecular pathology (01-04-2014)“…KRAS mutations are negative predictors of the response to anti-EGFR therapy in colorectal carcinomas (CRCs). Point mutations in codons 12, 13, and 61 are the…”
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KRAS gene mutation in a series of unselected colorectal carcinoma patients with prognostic morphological correlations: A pyrosequencing method improved by nested PCR
Published in Experimental and molecular pathology (01-06-2015)“…Inhibition of EGFR is a strategy for treating metastatic colorectal cancer (CRC) patients. KRAS sequencing is mandatory for selecting wild-type tumor patients…”
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Comment on: EGFR mutational status in Brazilian patients with penile carcinoma
Published in Expert opinion on therapeutic targets (01-07-2013)“…The authors describe the results on EGFR molecular alterations of 29 Brazilian patients with penile carcinoma (PC). DNA extracted from frozen tumor tissue of…”
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Cloning and characterization of an alternative splicing transcript of the gene coding for human cytidine deaminase
Published in Biochemistry and cell biology (01-02-2007)“…Human cytidine deaminase (HCD) catalyzes the deamination of cytidine or deoxycytidine to uridine or deoxyuridine, respectively. The genomic sequence of HCD is…”
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Expression of the selectable marker gene bsrm in BALB/MK cells induces apoptosis by overproduction of hydrogen peroxide
Published in Biochemistry and cell biology (01-10-2007)“…Transduction of the retroviral vector LBmSN, which expresses the blasticidin S resistance gene bsrm in the murine keratinocyte cell line BALB/MK, induces death…”
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Abstract 785: Identification of TP53 splicing mutations in colorectal tumors
Published in Cancer research (Chicago, Ill.) (15-04-2013)“…Background & Aim: The tumor suppressor TP53 gene is one of the most frequently mutated in different types of human cancer. Particularly in colorectal cancer…”
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Genomic Profile of Patients with Triple Negative (JAK2, CALR and MPL) Essential Thrombocythemia and Primary Myelofibrosis
Published in Blood (06-12-2014)“…Introduction: Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF) are myeloproliferative neoplasms (MPN) with similar driver mutations. The three…”
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Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals
Published in Familial cancer (01-12-2011)“…Lynch syndrome (LS) is an autosomal dominant syndrome that predisposes individuals to development of cancers early in life. These cancers are mainly the…”
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Abstract 1183: Monoallelic expression in codon 72 of TP53 in heterozygote individuals
Published in Cancer research (Chicago, Ill.) (15-04-2012)“…Background & Aim: Correlations between DNA variation and human phenotypic differences, such as susceptibility to certain diseases, are not well understood…”
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Abstract A025: Screening for genomic rearrangements and germline mutations in BRCA1 and BRCA2 genes in hereditary breast cancer unrelated Brazilian families
Published in Molecular cancer research (01-10-2013)“…Breast cancer (BC) is one of the most important causes of mortality within women worldwide. About 90% of breast cancer cases are sporadic and 5 to 10% are due…”
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Treatment of adult MPSI mouse brains with IDUA-expressing mesenchymal stem cells decreases GAG deposition and improves exploratory behavior
Published in Genetic vaccines and therapy (20-04-2012)“…Mucopolysaccharidosis type I (MPSI) is caused by a deficiency in alpha-L iduronidase (IDUA), which leads to lysosomal accumulation of the glycosaminoglycans…”
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