Sergio Alberto Ramírez-García

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Cockayne is a segmental progeroid syndrome that has autosomal recessive inheritance pattern. It is mainly characterized by Intrauterine growth retardation, severe postnatal growth deficiency, cachectic dwarfism, microcephaly, wizened face, sensorineural hearing loss, cataracts, dental caries, cardiac arrhythmias, hypertension, atherosclerosis, proteinuria,(More)
Cytochrome P450 enzymes are important for biotechnology due to their capacity to modify diverse secondary metabolites that may produce chemicals with pharmacological properties. Most terpenes, flavonoids and alkaloids require P450 catalytic functions to reach their biological activity. In the last ten years, several efforts have focused on the expression(More)
BACKGROUND ELMO1 is a gene located at locus 7p14.2-14.1 that codifies a regulatory protein involved in fibrogenesis, cell migration, phagocytosis and apoptosis. This gene presents a single nucleotide polymorphism, which appears to be linked with the development of diabetic nephropathy. OBJECTIVES Currently, there are no studies in regard to the presence(More)
Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described(More)
Type 2 diabetes mellitus is a complex disease and a global health problem. Therefore, the first level of health care should handle the approaches of medical genetics and genomics to reduce its incidence. The aim is to present perspectives analyzed by our group in two areas of genetics and its clinical application. Emphasis is placed on the coexistence of(More)
BACKGROUND congenital hypothyroidism is the third sub-clinic hereditary disease in Mexico. Infants with total or partial underactive thyroid gland presented at birth showed high levels of thyrotropin. This allows identifying patients at risk for developing it through screening tests. The aim was to determinate the incidence of neonatal congenital(More)
Objective To measure the effect of an educational intervention on clinical competences for diagnosis and treatment of rheumatic diseases in primary healthcare physicians working in the Guadalajara Metropolitan Area, Jalisco, Mexico. Methodology Quasi-experimental study conducted in physicians from two primary health care units. The study was carried out(More)
BACKGROUND TJP1 gene encodes a ZO-1 protein that is required for the recruitment of occludins and claudins in tight junction, and is involved in cell polarisation. It has different variations, the frequency of which has been studied in different populations. In Mexico there are no studies of this gene. These are required because their polymorphisms can be(More)
Type 2 diabetes nephropathy is a multifactorial trait whose threshold or limit for the phenotypic expression depends on the additive effect of multiple loci and environmental factors that are specific to each population. After the sequencing of human genome more susceptibility loci through linkage studies and association have been found. The association(More)
Objective Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM). Methods Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR). PCR outputs were analyzed by(More)
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