Although multiple pathologic mechanisms have been proposed ... Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a polyglutamine repeat expansion within ...
Multiple endocrine neoplasia type 1 (MEN1) is a familial disorder in which the pattern of inheritance is autosomal dominant ... A combination of mechanisms is responsible for the seemingly ...
We also investigate the pathogenic mechanisms of myotonic dystrophy, type 1 (DM1), an autosomal dominant neuromuscular disorder affecting multiple tissues including muscle, heart and the central ...
Certain equine breeds are predisposed to congenital and juvenile cataracts because of an autosomal dominant inheritance ... is warranted on potential genetic mechanisms for cataracts in Standardbreds.