Title |
Genetic interaction of GSH metabolic pathway genes in cystic fibrosis
|
---|---|
Published in |
BMC Medical Genomics, June 2013
|
DOI | 10.1186/1471-2350-14-60 |
Pubmed ID | |
Authors |
Fernando Augusto de Lima Marson, Carmen Sílvia Bertuzzo, Rodrigo Secolin, Antônio Fernando Ribeiro, José Dirceu Ribeiro |
Abstract |
Cystic fibrosis (CF) is a monogenic disease caused by CFTR gene mutations, with clinical expression similar to complex disease, influenced by genetic and environmental factors. Among the possible modifier genes, those associated to metabolic pathways of glutathione (GSH) have been considered as potential modulators of CF clinical severity. In this way it is of pivotal importance investigate gene polymorphisms at Glutamate-Cysteine Ligase, Catalytic Subunit (GCLC), Glutathione S-transferase Mu 1 (GSTM1), Glutathione S-transferase Theta 1 (GSTT1), and Glutathione S-transferase P1 (GSTP1), which have been associated to the GSH metabolic pathway and CF clinical severity. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 7 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 6 | 86% |
Practitioners (doctors, other healthcare professionals) | 1 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 2 | 4% |
Colombia | 1 | 2% |
South Africa | 1 | 2% |
Brazil | 1 | 2% |
Unknown | 50 | 91% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 11 | 20% |
Student > Ph. D. Student | 10 | 18% |
Student > Bachelor | 7 | 13% |
Student > Master | 4 | 7% |
Other | 3 | 5% |
Other | 7 | 13% |
Unknown | 13 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 14 | 25% |
Medicine and Dentistry | 8 | 15% |
Biochemistry, Genetics and Molecular Biology | 8 | 15% |
Nursing and Health Professions | 3 | 5% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 4% |
Other | 5 | 9% |
Unknown | 15 | 27% |