Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

Please provide your email address to receive an email when new articles are posted on . A recently published study shows a history of hypertension and smoking increases the risk of the formation of ...

Autosomal dominant optic atrophy (ADOA), the most common genetic optic neuropathy, is an insidious disease. It often presents slowly during childhood by way of blurry vision, trouble reading or ...

Autosomal dominant polycystic kidney disease (ADPKD) is an inheritable genetic condition. That means it may be passed from parent to child. If you have a parent with ADPKD, you may have inherited a ...

Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...

"Groups such as the American College of Medical Genetics and Genomics can use this study to help determine whether PKD1 and PKD2 should be considered in future recommendations for reporting of ...

The course of autosomal dominant polycystic kidney disease (ADPKD) is often associated with pain, hypertension, and kidney failure. Preclinical studies indicated that vasopressin V 2-receptor ...