Gene Therapy
Mostrando 13-24 de 1994 artigos, teses e dissertações.
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13. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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14. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and int
Adv. rheumatol.. Publicado em: 13/01/2020
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15. Co-transfection of hepatocyte growth factor and truncated TGF-β type II receptor inhibit scar formation
Wound scarring remains a major challenge for plastic surgeons. Transforming growth factor (TGF)-β plays a key role in the process of scar formation. Previous studies have demonstrated that truncated TGF-β type II receptor (t-TGF-βRII) is unable to continue signal transduction but is still capable of binding to TGF-β, thereby blocking the TGF-β signaling
Braz J Med Biol Res. Publicado em: 2020-01
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16. Icariin stimulates differentiation of bone marrow-derived mesenchymal stem cells (BM-MSCs) through activation of cAMP/PKA/CREB
Icariin, a prenylated flavonol glycoside isolated from Epimedium, has been considered as a potential alternative therapy for osteoporosis. The present study aimed to clarify the detailed molecular mechanisms of action of icariin on osteoblast function, using bone marrow-derived mesenchymal stem cells (BM-MSCs). BM-MSCs were first stimulated by icariin. Then,
Braz. J. Pharm. Sci.. Publicado em: 20/12/2019
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17. Oocytes, embryos and pluripotent stem cells from a biomedical perspective
Abstract The veterinary and animal science professions are rapidly developing and their inherent and historical connection to agriculture is challenged by more biomedical and medical directions of research. While some consider this development as a risk of losing identity, it may also be seen as an opportunity for developing further and more sophisticated co
Anim. Reprod.. Publicado em: 28/11/2019
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18. Lytic bacteriophages as a potential alternative to control Staphylococcus aureus
Resumo: O objetivo deste trabalho foi caracterizar bacteriófagos autóctones e determinar sua atividade lítica em Staphylococcus aureus. Seis fagos foram isolados de água de lavagem de pisos de estábulos por meio do enriquecimento de cultura com três estirpes de S. aureus. Todos os fagos foram caracterizados pela digestão do DNA com enzimas de restriç
Pesq. agropec. bras.. Publicado em: 11/11/2019
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19. Clinical attachment loss and molecular profile of inflamed sites before treatment
Abstract Objective: To monitor early periodontal disease progression and to investigate clinical and molecular profile of inflamed sites by means of crevicular fluid and gingival biopsy analysis. Methodology: Eighty-one samples of twenty-seven periodontitis subjects and periodontally healthy individuals were collected for the study. Measurements of clinica
J. Appl. Oral Sci.. Publicado em: 09/09/2019
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20. CLINICAL PROFILE, DRUG RESISTANCE PATTERN AND TREATMENT OUTCOMES OF ABDOMINAL TUBERCULOSIS PATIENTS IN WESTERN INDIA
RESUMO CONTEXTO: A tuberculose abdominal é um problema crescente no mundo em desenvolvimento. OBJETIVO: O objetivo do estudo foi descrever as apresentações clínicas, o padrão de resistência a fármacos e os desfechos de tratamento da tuberculose abdominal na Índia ocidental. MÉTODOS: Foram incluídos todos os casos de tuberculose abdominal de ma
Arq. Gastroenterol.. Publicado em: 26/08/2019
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21. Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)
ABSTRACT Introduction Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Materials and methods Case series of 6 male patients with gigantism evaluated at the Endocrinology Service
Arch. Endocrinol. Metab.. Publicado em: 29/07/2019
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22. Essential thrombocythemia - a predisponent factor for stroke
SUMMARY The essential thrombocythemia is one of the seven described forms of myeloproliferative neoplasms. It is characterized by megakaryocytic hyperplasia with consequent thrombocytosis maintained in the peripheral blood, favoring the occurrence of thrombo-hemorrhagic phenomena. We present the case of an 81-year-old woman with a history of ischemic stroke
Rev. Assoc. Med. Bras.. Publicado em: 22/07/2019
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23. Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation
Abstract Isolated sulfite oxidase deficiency (ISOD) is a devastating, neurometabolic disorder caused by mutations in the SUOX gene necessary for the final step in the sulfur-containing amino acid catabolic pathway. Patients classically present in the neonatal period with neurologic manifestations. Biochemical findings include elevated sulfocysteine, low cyst
J. inborn errors metab. screen.. Publicado em: 27/06/2019
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24. Small Molecules: Substrate Inhibitors, Chaperones, Stop-Codon Read Through, and Beyond
Abstract Lysosomal storage disorders are rare genetic disorders due to deficient lysosomal activity, which leads to progressive accumulation of nonmetabolized substrates. Patient’s clinical outcomes have significantly improved since the advent of enzyme replacement therapy, even though this therapeutic approach presents important limitations, such as immun
J. inborn errors metab. screen.. Publicado em: 30/05/2019