Hypertension is abnormally high blood pressure in the arteries, which are the blood vessels that carry blood from the to the rest of the body. As the heart beats, it forces blood through the arteries to deliver nutrients and oxygen to the rest of the body. The strength of the blood pushing against the artery… Read More »
Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clin Genet. 2018 Apr;93(4):762-775.… Read More »
Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al Othaim A, Al Rasheed S, Assiri H, Alqahtani AA, Alaamery M, Rolfs A, Eyaid W. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. JIMD Rep. 2015;22:11-6. doi: 10.1007/8904_2014_405. Epub 2015 Feb 8. Lomelino CL, Andring JT, McKenna R, Kilberg MS. Asparagine synthetase: Function, structure, and role… Read More »
Mutations in several genes have been found to cause left ventricular noncompaction. Mutations in the MYH7 and MYBPC3 genes have been estimated to cause up to 30 percent of cases; mutations in other genes are each responsible for a small percentage of cases. However, the cause of the condition is often unknown. Most of the… Read More »