Related GMR Articles
The glutathione S transferase (GST) family plays an important role in the processing of carcinogens. Data on the null GSTM1 genotype has revealed associations with cancer, and has been suggested to affect carcinogen metabolism and to contribute to tumor promotion in the mammary gland. We examined the role of the null GSTM1 genotype by comparing the genotypes of 276 ... more
Obesity is a major worldwide health issue, with increasing prevalence in adults and children from developed and developing countries. Obesity causes several chronic diseases, including cardiovascular and respiratory diseases, osteoarthritis, hypertension, stroke, type II diabetes, obstructive sleep apnea, and several types of cancer. Previous genome-wide association studies have ... more
Obesity is a major worldwide health issue, with increasing prevalence in adults and children from developed and developing countries. Obesity causes several chronic diseases, including cardiovascular and respiratory diseases, osteoarthritis, hypertension, stroke, type II diabetes, obstructive sleep apnea, and several types of cancer. Previous genome-wide association studies have ... more
Gitelman syndrome (GS) is a genetic disorder that affects kidney and causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. GS is characterized by hypokalemia and metabolic alkalosis. GS is a rare autosomal recessive renal tubulopathy disease caused by loss-of-function mutations in the SLC12A3 gene. Objective ... more
Mucopolysaccharidosis (MPS) related information in Colombia is limited. A descriptive research involving results obtained in the full exome sequencing of 244 patients with different types of pathologies and not clinically diagnosed with MPS was carried out with the purpose of examining the genomic variability of genes associated with the MPS complex in South West ... more
Gaucher Disease (GD) is an autosomal recessive genetic disorder, caused by a deficiency of the enzyme B-glucocerebrosidase (GBA). In Colombia, despite considerable research on GD, the frequency of the GBA gene variants in the population is unknown, making it difficult to determine the risk of occurrence based on carriers. To identify the variants of the ... more
Quantitative multiplex reverse transcriptase-polymerase chain reaction was developed for the simultaneous detection of multiple-gene expression levels of formalin-fixed, paraffin-embedded breast cancer samples. Candidate genes were selected from previous microarray data relevant to breast cancer markers that had the potential to serve as predictive markers for metastatic risk. This multiplex ... more
The androgen receptor (AR) is involved in the differentiation and growth of breast cancer. Genetic markers in the AR gene have a plausible role in modulating the risk of breast cancer. In this study, we studied the association of breast cancer and the trinucleotide repeat polymorphism (CAG)n in exon 1 of the AR gene in 202 patients with breast cancer and 183 healthy ... more
The current study aimed at evaluating the association between GSTM1 null/present, GSTT1 null/present, and GSTP1 IIe105Val polymorphisms and clinical response to chemotherapy and treatment outcome of breast cancers patients. Genotyping of GSTP1 rs1695, GSTT1 deletion, and GSTM1 deletion was performed by Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) assay. ... more
We investigated the expression of S-phase kinase-associated protein 2 (SKP2) in breast cancer tissues, and the effects of SKP2-specific small interfering RNA (siRNA) interference on breast cancer cell proliferation. Thirty subjects provided breast cancer tissue samples and 18 subjects provided normal breast specimens for this study. The expression of SKP2 in breast cancer patient ... more