Gene Therapy
Mostrando 1-12 de 1994 artigos, teses e dissertações.
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1. Gene therapy in neuromuscular disorders
Resumo Doenças neuromusculares monogênicas são potencialmente tratáveis através de terapia gênica. Utilizando-se de vetores virais, um transgene terapêutico objetiva repor os níveis normais de uma proteina não produzida pelo gene defeituoso ou silenciar um gene cuja expressão leva a efeitos tóxicos. A Atrofia Muscular Espinhal (AME) é um bom exem
Arquivos de Neuro-Psiquiatria. Publicado em: 2022
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2. Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Abstract Objectives: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal
Jornal de Pediatria. Publicado em: 2022
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3. Oxidative Stress and Changes of Important Metabolic Gene Expressions as a Potential Biomarker in the Diagnosis of Atherosclerosis in Leukocytes
ABSTRACT Introduction: Presenilin 1 (PSEN1), catalase (CAT), glutathione-S-transferase (GST) and paraoxonase 1 (PON1) play a vital role in prediction, diagnosis and therapy of metabolic disorders. Methods: Metabolic enzyme activities and lipid peroxidation in serum of cerebrovascular diseases (CVD) and coronary artery diseases were measured by spectrophoto
Brazilian Journal of Cardiovascular Surgery. Publicado em: 2022
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4. Biomarker potential of hsa-miR-145-5p in peripheral whole blood of manic bipolar I patients
Objective: Bipolar I disorder (BD-I) is a type of bipolar spectrum disorder characterized by manic or mixed episodes. Detecting microRNA regulations as epigenetic actors in BD-I is important to elucidate the pathogenesis of the disease and reveal the potential of microRNAs (miRNAs) as biomarkers. Methods: We evaluated the expression profile of six candidate
Brazilian Journal of Psychiatry. Publicado em: 2022
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5. Lysosomal acid lipase deficiency in pediatric patients: a scoping review
Abstract Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D
Jornal de Pediatria. Publicado em: 2022
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6. New treatments for rare bone diseases: hypophosphatemic rickets/osteomalacia
Abstract Phosphorus is one of the most abundant minerals in the human body; it is required to maintain bone integrity and mineralization, in addition to other biological processes. Phosphorus is regulated by parathyroid hormone, 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], and fibroblast growth factor 23 (FGF-23) in a complex set of processes that occur in the gu
Archives of Endocrinology and Metabolism. Publicado em: 2022
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7. Long non-coding RNA HOTAIR induces the PI3K/AKT/mTOR signaling pathway in breast cancer cells
SUMMARY OBJECTIVE: The phosphoinositide 3-kinase/protein kinase AKT/mammalian target of rapamycin signaling pathway is essential for proper cellular metabolism and cell growth. However, aberrant activation of this pathway has been linked to the progression and metastasis of breast cancer. Recently, the role of long non-coding RNAs in interfering with the ce
Revista da Associação Médica Brasileira. Publicado em: 2022
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8. T3 therapy for hypothyroidism: choosing wisely still requires careful bench to bedside translation
ABSTRACT Objective: To study the association of SLC16A11 gene variants with obesity and metabolic markers in nondiabetic Chilean adults. Materials and methods: This cross-sectional study included 263 non-diabetic adults. The genotype of the rs75493593 polymorphism of SLC16A11 gene was performed by real-time PCR. It's association with adiposity markers (bod
Arch. Endocrinol. Metab.. Publicado em: 2021-06
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9. Treatment of patients with immunodeficiency: Medication, gene therapy, and transplantation
Abstract Objectives: To provide an overview of drug treatment, transplantation, and gene therapy for patients with primary immunodeficiencies. Source of data: Non-systematic review of the literature in the English language carried out at PubMed. Synthesis of data: The treatment of patients with primary immunodeficiencies aims to control their disease, esp
J. Pediatr. (Rio J.). Publicado em: 2021-04
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10. BDNF Val66Met polymorphism and resilience in major depressive disorder: the impact of cognitive psychotherapy
Objective: Clinical and biological correlates of resilience in major depressive disorder are scarce. We aimed to investigate the effect of the Val66Met polymorphism in the BDNF gene on resilience scores in major depressive disorder patients and evaluate the polymorphism’s moderation effect on resilience scores in response to cognitive therapy. Method: A
Braz. J. Psychiatry. Publicado em: 2021-02
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11. Paralisia facial como complicação neurológica da SARS-CoV-2
Abstract Cardiac hypertrophy and dysfunction are a significant complication of chronic Chagas disease, with heart failure, stroke, and sudden death related to disease progression. Thus, understanding the signaling pathways involved in the chagasic cardiac hypertrophy may provide potential targets for pharmacological therapy. Herein, we investigated the impli
Arq. Neuro-Psiquiatr.. Publicado em: 2020-10
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12. Role of FAK signaling in chagasic cardiac hypertrophy
Abstract Cardiac hypertrophy and dysfunction are a significant complication of chronic Chagas disease, with heart failure, stroke, and sudden death related to disease progression. Thus, understanding the signaling pathways involved in the chagasic cardiac hypertrophy may provide potential targets for pharmacological therapy. Herein, we investigated the impli
Braz J Infect Dis. Publicado em: 2020-10