Alelos específicos de antígenos eritrocitarios ABO con posible asociación al fenotipo longevos según grupos étnicos
Medicentro (Villa Clara); 21 (4), 2017
Results: 126
Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever
Rev. bras. reumatol; 57 (6), 2017
Abstract Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224,...
Frequency of common polymorphisms in Caveolin 1 (CAV1) gene in adults with high serum triglycerides from Colombian Caribbean Coast
Colomb. med; 48 (4), 2017
Abstract Background: Caveolin 1 gene (CAV1) has been associated with insulin resistance, metabolic syndrome and hypertension in humans. Also, it has been related to high serum triglycerides in rodents, however there is little evidence of this relation in humans. Aim: To describe frequencies of common...
Association between the RAGE (receptor for advanced glycation end-products) -374T/A gene polymorphism and diabetic retinopathy in T2DM
Rev. Assoc. Med. Bras. (1992, Impr.); 63 (11), 2017
Summary Objective: Interaction between advanced glycation end-products (AGEs) and receptor for AGEs (RAGE) in cells could affect both extracellular and intracellular structure and function, which plays a pivotal role in diabetic microvascular complications. The results from previous epidemiological stud...
Angiotensin-Converting Enzyme ID Polymorphism in Patients with Heart Failure Secondary to Chagas Disease
Arq. bras. cardiol; 109 (4), 2017
Abstract Background: Changes in the angiotensin-converting enzyme (ACE) gene may contribute to the increase in blood pressure and consequently to the onset of heart failure (HF). The role of polymorphism is very controversial, and its identification in patients with HF secondary to Chagas disease in the...
Alelos, Cardiomiopatía Chagásica/complicaciones, Cardiomiopatía Chagásica/genética, Eliminación de Gen, Estudios de Asociación Genética, Genotipo, Técnicas de Genotipaje, Insuficiencia Cardíaca/genética, Peptidil-Dipeptidasa A/genética, Reacción en Cadena de la Polimerasa, Polimorfismo Genético, Factores de Riesgo, Estadísticas no Paramétricas
Tremor-Ataxia syndrome and primary ovarian insufficiency in an FMR1 premutation carrier
Colomb. med; 48 (3), 2017
Abstract Introduction: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insuff...
Ataxia/genética, Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética, Síndrome del Cromosoma X Frágil/genética, Insuficiencia Ovárica Primaria/genética, Temblor/genética, Alelos, Southern Blotting, Reacción en Cadena de la Polimerasa, Repeticiones de Trinucleótidos/genética
Asociación de variantes polimorfas de los genes PTPN22 , TNF y VDR en niños con nefritis lúpica: un estudio de tríos en familias colombianas
Biomédica (Bogotá); 37 (2), 2017
RESUMEN Introducción. El lupus eritematoso sistémico es una enfermedad autoinmunitaria cuya gravedad varía según la raza, el sexo y la edad de aparición. Esta disparidad también se observa en los marcadores genéticos asociados con la enfermedad presentes en los genes PTPN22, VDR y TNF. La estrati...
Lupus Eritematoso Sistémico/complicaciones, Nefritis Lúpica/complicaciones, Polimorfismo de Nucleótido Simple/genética, Proteína Tirosina Fosfatasa no Receptora Tipo 22/genética, Receptores de Calcitriol/genética, Factor de Necrosis Tumoral alfa/genética, Alelos, Colombia, Genotipo, Lupus Eritematoso Sistémico/genética, Nefritis Lúpica/genética, Polimorfismo de Nucleótido Simple/fisiología, Proteína Tirosina Fosfatasa no Receptora Tipo 22/química, Proteína Tirosina Fosfatasa no Receptora Tipo 22/metabolismo, Receptores de Calcitriol/química, Receptores de Calcitriol/metabolismo, Factor de Necrosis Tumoral alfa/química
Genome-wide gene expression patterns in dikaryon of the basidiomycete fungus Pleurotus ostreatus
Braz. j. microbiol; 48 (2), 2017
Abstract Dikarya is a subkingdom of fungi that includes Ascomycota and Basidiomycota. The gene expression patterns of dikaryon are poorly understood. In this study, we bred a dikaryon DK13 × 3 by mating monokaryons MK13 and MK3, which were from the basidiospores of Pleurotus ostreatus TD300. Using RNA-S...
The brain-derived neurotrophic factor (BDNF) gene Val66Met polymorphism affects memory performance in older adults
Braz. J. Psychiatry (São Paulo, 1999, Impr.); 39 (2), 2017
Objective: Memory impairment is an important contributor to the reduction in quality of life experienced by older adults, and genetic risk factors seem to contribute to variance in age-related cognitive decline. Brain-derived neurotrophic factor (BDNF) is an important nerve growth factor linked with deve...
Factores de Edad, Alelos, Factor Neurotrófico Derivado del Encéfalo/genética, Predisposición Genética a la Enfermedad, Trastornos de la Memoria/genética, Metionina/genética, Análisis Multivariante, Pruebas Neuropsicológicas, Polimorfismo de Nucleótido Simple, Factores de Riesgo, Estadísticas no Paramétricas, Análisis y Desempeño de Tareas, Valina/genética, Escalas de Wechsler
Associations of Cerebrovascular Metabolism Genotypes With Neuropsychiatric Symptoms and Age at Onset of Alzheimer's Disease Dementia
Braz. J. Psychiatry (São Paulo, 1999, Impr.); 39 (2), 2017
Objective: To study associations of cerebrovascular metabolism genotypes and haplotypes with age at Alzheimer’s disease dementia (AD) onset and with neuropsychiatric symptoms according to each dementia stage. Methods: Consecutive outpatients with late-onset AD were assessed for age at dementia ons...
Edad de Inicio, Alelos, Enfermedad de Alzheimer/genética, Enfermedad de Alzheimer/metabolismo, Enfermedad de Alzheimer/fisiopatología, Apolipoproteínas E/genética, Trastornos Cerebrovasculares/genética, Trastornos Cerebrovasculares/metabolismo, Trastornos Cerebrovasculares/fisiopatología, Proteínas de Transferencia de Ésteres de Colesterol/genética, Estudios Transversales, Dosificación de Gen, Estudios de Asociación Genética, Genotipo, Enfermedades de Inicio Tardío, Modelos Lineales, Lipoproteínas LDL/genética, Receptores X del Hígado/genética, Pruebas Neuropsicológicas