Now showing items 1-10 of 29
Association of interleukin-1B and interleukin-1RN polymorphisms with gastric cancer in a high-risk population of Costa Rica
(Clinical and Experimental Medicine 5 p.169-176, 2005-09-13)
Several risk factors have been associated with gastric cancer, among them Helicobacter pylori infection. This bacterium yields inflammation, the degree of which depends on the bacterial strain and the severity of the host ...
Polimorfismos en los genes de desintoxicacion CYP1A1, CYP2E1, GSTT1 y GSTM1 en la susceptibilidad al cáncer gástrico
Polymorphisms in detoxification genes CYP1A1, CYP2E1, GSTT1 and GSTM1 in gastric cancer susceptibility
(Revista de Biología Tropical 52(3) p.591-600, 2004-12-15)
Las enzimas de las familias P450 y Glutation Stransferasa están relacionadas en la activación y desintoxicación de sustancias que podrían actuar como cancerígenas. Polimorfismos genéticos en estas enzimas han sido asociados ...
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1
(European Journal of Human Genetics p.1-8, 2014-07-23)
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated ...
Individual differences in the immobility behavior in juvenile and adult rats are associated with monoaminergic neurotransmission and with the expression of corticotropin-releasing factor receptor 1 in the nucleus accumbens
(Behavioural Brain Research, Vol. 252. pp. 77-87, 2013)
The study of individual differences provides an important methodological approach to analyze the neurobehavioral spectrum of a given cohort in order to understand brain function and disease. Based on immobility time in ...
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed ...
Individual differences in the forced swimming test and neurochemical kinetics in the rat brain
(Physiology & Behavior 126(1):60-69, 2014-02-08)
Individual differences in the forced swimming test (FST) could be associatedwith differential temporal dynamics of gene expression and neurotransmitter activity. We tested juvenile male rats in the FST and classified ...
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity
(Human Molecular Genetics, 2012 Vol. 21, No. 16. 3558–3567, 2012-05-30)
Deciphering the contribution of genetic instability in somatic cells is critical to our understanding of many human disorders. Myotonic dystrophy type 1 (DM1) is one such disorder that is caused by the expansion of a CTG ...
Individual Differences In The Forced Swimming Test And The Effect Of Environmental Enrichment: Searching For An Interaction
(Neuroscience 265(1):95-107, 2014-02-05)
Animals with low and high immobility in the forced swimming test (FST) differ in a number of neurobehavioral factors. A growing body of evidence suggests that the exposure to enriched environments mediates a number ...
Estudio intergeneracional de la mutación que causa la distrofia miotónica de tipo 1 en Costa Rica
Intergenerational study of the mutation that causes myotonic dystrophy type 1 in Costa Rica
(Revista de Neurología 2003; 36: 20-25, 2003-01-01)
Introduction. Myotonic dystrophy type 1 is a neuromuscular, degenerative and progressive disease, with an autosomal dominant pattern of inheritance, variable eTressivity and incomplete penetrance. The genetic defect is ...
Aspectos genéticos y moleculares de las enfermedades miotónicas
Molecular and genetic aspects of the myotonic conditions
(Revista de Neurología 38 (7) p 668-674, 2004)
Aim. The aim is to review the molecular and genetic aspects of the dystrophic and no-dystrophic myotonias. Background. Myotonic diseases are hereditary conditions of the skeletal muscle, classified in two groups depending ...