Frequency of GBA gene variants in complex disease patients in Southwestern Colombia
, “Frequency of GBA gene variants in complex disease patients in Southwestern Colombia”, Genetics and Molecular Research, vol. 20, no. 2, 2021.
Exome sequencing
Genomic variability of the mucopolysaccharidosis complex in southwestern Colombia
, “Genomic variability of the mucopolysaccharidosis complex in southwestern Colombia”, Genetics and Molecular Research, vol. 19, no. 2, 2020.
A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family
, “A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family”, Genetics and Molecular Research, vol. 17, no. 1, 2018.
Exome sequencing in Thai patients with familial obesity
, “Exome sequencing in Thai patients with familial obesity”, vol. 15, p. -, 2016.
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.
Exome sequencing in Thai patients with familial obesity
, “Exome sequencing in Thai patients with familial obesity”, vol. 15, p. -, 2016.
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.
Relationship between SPOP mutation and breast cancer in Chinese population
, “Relationship between SPOP mutation and breast cancer in Chinese population”, vol. 14, pp. 12362-12366, 2015.
SPOP protein has been found to have ubiquitin ligase activity. Mutations in SPOP gene have been recently reported in some cancers such as prostate, gastric, colorectal cancer. We investigated SPOP DNA mutation in tumor tissues collected from 70 Chinese female breast cancer patients in Southwestern China by DNA sequencing. The results did not show mutation in our tissue samples, indicating that a mutation in the SPOP gene may not be associated with breast cancer, particularly in Chinese women.
