Alstrom syndrome has been the focus of attention, among other ciliopathies, in research on the biological functions of cilia as well as the best mode of treatment of these disorders. The ALMS1 gene has been associated with this condition. Physiological Roles of ALMS1 Protein The ALMS1 gene has been the locus of research because of […]
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Defective cilia linked to heart valve birth defects
Bicuspid aortic valve (BAV) is the most common heart valve birth defect and one of the most common birth defects of any type, affecting around 70 million people worldwide. A healthy aortic valve has three leaflets; in BAV disease, two of the leaflets are fused together, impairing the function of the valve. In many individuals […]