"Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".

: Vitelliform Macular Dystrophy is an inherited autosomal dominant disease with variable expressivity, caused by a mutation in the gene. We report a family with variable expressivity and incomplete penetrance in its members.: A Mexican family was studied.

Effect of and gene polymorphisms on atorvastatin metabolism in a Mexican population.

Discrepancies in the response to drugs are partially due to polymorphisms in genes involved in drug metabolism and transport. The frequency, pattern and impact of these polymorphisms vary among populations. In the present study, the pharmacokinetics and pharmacogenetics of atorvastatin (ATV) in a Mexican population were investigated.

Rapid Detection of the GSTM3 A/B Polymorphism Using Real-time PCR with TaqMan(®) Probes.

Glutathione S-transferases (GSTs) are a group of phase II detoxification enzymes, which catalyze the conjugation of glutathione (GSH) with carcinogens, among other xenobiotics. The GSTM3 gene is part of the GSTs gene family, and its polymorphism A/B has been associated with risk and protective effects of several cancers. This genetic variant is a deletion of 3 bp (AGG) in intron 6.

Phenotypic and molecular identification of Fonsecaea pedrosoi strains isolated from chromoblastomycosis patients in Mexico and Venezuela.

Chromoblastomycosis is a chronic granulomatous disease caused frequently by fungi of the Fonsecaea genus. The objective of this study was the phenotypic and molecular identification of F. pedrosoi strains isolated from chromoblastomycosis patients in Mexico and Venezuela.

Real-time PCR detection of the recessive dystrophic epidermolysis bullosa-associated c.2470insG mutation in unrelated Mexican families.

Recessive dystrophic epidermolysis bullosa (R-DEB) is caused by mutations in the COL7A1 gene. The most common mutation reported in Mexican families is the c.2470insG mutation, normally detected by DNA sequencing.

Hepatoprotective effect of commercial herbal extracts on carbon tetrachloride-induced liver damage in Wistar rats.

Background: Various hepatoprotective herbal products from plants are available in Mexico, where up to 85% of patients with liver disease use some form of complementary and alternative medicine. However, only few studies have reported on the biological evaluation of these products.

Objective: Using a model of carbon tetrachloride (CCl4)-induced hepatotoxicity in rats, we evaluated the effects of commercial herbal extracts used most commonly in the metropolitan area of Monterrey, Mexico.