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Mahmood Rasool

Publications of : Mahmood Rasool
Human Genetics   Research Article

A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

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 of.. Read More»

Genet. Mol. Res. 17(1): gmr16039858

DOI: 10.4238/gmr16039858

Animal Genetics   Research Article

Potential Protective Effect of Vitamin D on Cardiac Extrinsic pathways of apoptosis in Male Rats Fed with high fat diet

Background: Obesity and vitamin D deficiency are increasing in Kingdom of Saudi Arabia (KSA) in last decades. Researchers have shown a relation between both disorders and cardiovascular disease (CVD). The present work aimed to investigate the possible protective effect of vitamin D on cardiac apoptosis in rats fed with a high fat diet. Methods: This study included 30 male wistar rats and was di.. Read More»

Genet. Mol. Res. 18(1):