Facial features. Facial appearance is one of the key clinical features that leads to a diagnosis of Noonan syndrome. These features may be more pronounced in infants and young children, but change with age. In adulthood, these distinct features become more subtle.
It has become increasingly clear that endoplasmic reticulum stress is an important feature of a number of human diseases, particularly those involving cells dedicated to the synthesis of secreted proteins, such as diabetes mellitus, liver diseases and inflammatory disorders.evertheless, this accumulation does not lead to increased expression of the endoplasmic reticulum stress markers binding immunoglobulin protein (BIP) or CHOP. These data suggest that the role of the UPR in the pathogenesis of Charcot-Marie-Tooth 1A mutations needs to be examined directly and in greater detail.
There are two types of endoplasmic reticulum, rough and smooth. The outer (cytosolic) face of the rough endoplasmic reticulum is studded with ribosomes that are the sites of protein synthesis. The rough endoplasmic reticulum is especially prominent in cells such as hepatocytes.n some cells, there are dilated areas like the sacs of rough endoplasmic reticulum. The network of smooth endoplasmic reticulum allows for an increased surface area to be devoted to the action or storage of key enzymes and the products of these enzymes.