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Results: 10

BPAN manifesting with febrile seizures and language delay: a case report from Brazil

Silva, Maria Cecília de Mattos Alves; Rezende, Thayane Rosas Batista; Carneiro, Zumira Aparecida; Lourenço, Charles Marques.
Clin. biomed. res; 41 (1), 2021
Neurodegeneration with brain iron accumulation (NBIA) is a complex group of hereditary progressive neurodegenerative diseases characterized by deposition of iron in the basal ganglia. Twelve genetic forms of this disorder have been identified in previous studies. Though they have different inheritance me...
Distrofias Neuroaxonales/diagnóstico, Distrofias Neuroaxonales/genética, Convulsiones Febriles, Trastornos del Desarrollo del Lenguaje, Proteínas Portadoras/genética, Trastornos del Metabolismo del Hierro/diagnóstico, Trastornos del Metabolismo del Hierro/genética
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Genes frequently associated with sudden death in primary hypertrophic cardiomyopathy

Herrera-Rodríguez, Diana L; Totomoch-Serra, Armando; Rosas-Madrigal, Sandra; Luna-Limón, Claudia; Marroquín-Ramírez, Daniel; Carnevale, Alessandra; Rosendo-Gutiérrez, Rigoberto; Villarreal-Molina, María T; Márquez-Murillo, Manlio F.
Arch. cardiol. Méx; 90 (1), 2020
Abstract Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy without apparent cardiac justification. Sudden cardiac death may be the first manifestation of the disease. It occurs mainly in adulthood and can be seen in childhood and adolescence where genetic origin predomina...
Miosinas Cardíacas/genética, Cardiomiopatía Hipertrófica/genética, Cardiomiopatía Hipertrófica/fisiopatología, Proteínas Portadoras/genética, Cadenas Pesadas de Miosina/genética
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RNA-seq analysis of the response of plant-pathogenic oomycete Phytophthora parasitica to the fungicide dimethomorph

Hao, Kaiqiang; Lin, Beisen; Nian, Fuzhao; Gao, Xi; Wei, Zhong; Luo, Gang; Lu, Yachun; Lan, Mingxian; Yang, Jinguang; Wu, Guoxing.
Rev. argent. microbiol; 51 (3), 2019
Phytophthora parasitica is an important oomycete that causes disease in a variety of plants, dimethomorph fungicides being specific for oomycetes. The aim of this study was to use RNA-seq to rapidly discover the mechanism by which dimethomorph acts in the treatment of P. parasitica. We found that the exp...
Fungicidas Industriales/farmacología, Morfolinas/farmacología, Phytophthora/efectos de los fármacos, ARN Mensajero/biosíntesis, RNA-Seq, Proteínas Portadoras/biosíntesis, Proteínas Portadoras/genética, Permeabilidad de la Membrana Celular/efectos de los fármacos, Permeabilidad de la Membrana Celular/genética, Pared Celular/metabolismo, Regulación de la Expresión Génica/efectos de los fármacos, Ontología de Genes, Estrés Oxidativo/genética, Phytophthora/genética, Enfermedades de las Plantas/parasitología, ARN Mensajero/genética, Especies Reactivas de Oxígeno, Reacción en Cadena en Tiempo Real de la Polimerasa, Alineación de Secuencia, beta-Glucanos/análisis
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Gene expression profiling reveals upregulated FUT1 and MYBPC1 in children with pancreaticobiliary maljunction

Guo, Wan-Liang; Geng, Jia; Zhao, Jun-gang; Fang, Fang; Huang, Shun-Gen; Wang, Jian.
Braz. j. med. biol. res; 52 (8), 2019
Pancreaticobiliary maljunction (PBM) is associated with high risk of epithelial atypical growth and malignant transformation of the bile duct or gallbladder. However, overall changes in genetic expression have not been examined in children with PBM. Genome-wide expression was analyzed using peripheral bl...
Neoplasias de los Conductos Biliares/etiología, Conductos Biliares/anomalías, Proteínas Portadoras/genética, Estudios de Casos y Controles, Dilatación Patológica/complicaciones, Dilatación Patológica/congénito, Fucosiltransferasas/genética, Neoplasias de la Vesícula Biliar/etiología, Perfilación de la Expresión Génica, Análisis por Micromatrices, Conductos Pancreáticos/anomalías, Regulación hacia Arriba/genética
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Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy

Rafael, Julianny Freitas; Cruz Filho, Fernando Eugênio dos Santos; Carvalho, Antônio Carlos Campos de; Gottlieb, Ilan; Cazelli, José Guilherme; Siciliano, Ana Paula; Dias, Glauber Monteiro.
Arq. bras. cardiol; 108 (4), 2017
Abstract Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. T...
Cardiomiopatía Hipertrófica/diagnóstico por imagen, Cardiomiopatía Hipertrófica/genética, Proteínas Portadoras/genética, Cartilla de ADN, Heterocigoto, Mutación/genética, Linaje, Fenotipo
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Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study

Mattos, Beatriz Piva e; Scolari, Fernando Luís; Torres, Marco Antonio Rodrigues; Simon, Laura; Freitas, Valéria Centeno de; Giugliani, Roberto; Matte, Úrsula.
Arq. bras. cardiol; 107 (3), 2016
Abstract Background: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particu...
Brasil, Miosinas Cardíacas/genética, Cardiomiopatía Hipertrófica Familiar/genética, Proteínas Portadoras/genética, Estudios Transversales, Análisis Mutacional de ADN/métodos, Muerte Súbita Cardíaca, Estudios de Asociación Genética, Hipertrofia Ventricular Izquierda/genética, Mutación, Cadenas Pesadas de Miosina/genética, Fenotipo, Sarcómeros/genética, Índice de Severidad de la Enfermedad, Estadísticas no Paramétricas, Troponina T/genética
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Genetic polymorphisms of PPAR gamma, arsenic methylation capacity and breast cancer risk in Mexican women

Pineda-Belmontes, Cristina P; Hernández-Ramírez, Raúl U; Hernández-Alcaraz, César; Cebrián, Mariano E; López-Carrillo, Lizbeth.
Salud pública Méx; 58 (2), 2016
Abstract Objective: To evaluate whether the presence of polymorphisms of peroxisome proliferator-activated receptor gamma PPARγ (Pro 1 2Ala) and PPARGC1B (Ala203Pro) modifies the association between the inorganic arsenic (iAs) methylation capacity and breast cancer (BC). Materials and methods: Mex...
Arsénico/toxicidad, Arsenicales/metabolismo, Arsenicales/orina, Neoplasias de la Mama/epidemiología, Neoplasias de la Mama/genética, Proteínas Portadoras/genética, Estudios de Casos y Controles, Cromatografía Líquida de Alta Presión, Exposición a Riesgos Ambientales, Predisposición Genética a la Enfermedad, Espectrometría de Masas, Metilación, PPAR gamma/genética, Reacción en Cadena de la Polimerasa, Polimorfismo de Nucleótido Simple, Proteínas de Unión al ARN, Riesgo
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Genetic variants associated with fetal hemoglobin levels show the diverse ethnic origin in Colombian patients with sickle cell anemia

Fong, Cristian; Menzel, Stephan; Lizarralde, María Alejandra; Barreto, Guillermo.
Biomédica (Bogotá); 35 (3), 2015
Introduction: Fetal hemoglobin is an important factor in modulating the severity of sickle cell anemia. Its level in peripheral blood underlies strong genetic determination. Associated loci with increased levels of fetal hemoglobin display population-specific allele frequencies. Objective: We investigate...
Anemia de Células Falciformes/genética, Proteínas Portadoras/genética, Etnicidad/genética, Hemoglobina Fetal/genética, Proteínas Nucleares/genética, Polimorfismo de Nucleótido Simple, Sitios de Carácter Cuantitativo/genética, gamma-Globinas/genética, Anemia de Células FalciformesSangre, Anemia de Células Falciformes/etnología, Población Negra/genética, Colombia/epidemiología, Genotipo, Indígenas Sudamericanos/genética, Polimorfismo de Longitud del Fragmento de Restricción, Proteínas Represoras, Senegal/etnología, Sierra Leona/etnología
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Polymorphisms of the noggin gene and mandibular micrognathia: a first approximation

Gutiérrez, Sandra J; Gómez, Marilúz; Rey, Jorge A; Ochoa, Margarita; Gutiérrez, Sandra M; Prieto, Juan C.
Acta odontol. latinoam; 23 (1), 2010
Mandibular micrognathia is a deficiency in mandibular growth that prevents tooth contact during mastication, interferes with phonation and even causes sleep apnea. Studies show that mutant mice for chd (chordin) and nog (noggin) genes, which are modulators of the Bone Morphogenic Protein (BMP), had mandi...
Proteínas Portadoras/genética, Mandíbula/anomalías, Micrognatismo/genética, Polimorfismo Genético, Linaje
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