Night vision--Genetic aspects; Vision disorders--Genetic aspects
Mutations in the NYX gene, encoding the novel protein nyctalopin, cause human congenital stationary night blindness type 1 (CSNB1). CSNB1 is an X-linked recessive condition and is identified by a loss of the electroretinogram (ERG) b-wave while the...
Congenital stationary night blindness 1 (CSNBl) is a genetic disorder characterized in humans by night blindness, low visual acuity and myopia. CSNB 1 is caused by defects in genes that are involved in signaling between photoreceptors and...
The inherited bone marrow failure syndromes (IBMFS) encompass a heterogeneous collection of rare disorders characterized by hematological abnormalities, generalized growth delays, and an increased incidence of malignant transformation. These...
T cells; Disease susceptibility; Lupus; Sex factors in disease
Females are more susceptible to autoimmune disease than males. In several mouse models of disease, castration of males exacerbates disease while androgen treatment ameliorates disease. These data suggest hormones can have an influence on disease...
BACKGROUND: Regulated secretion of protein by salivary and other exocrine glands requires correct trafficking of soluble cargo proteins into secretory vesicles. However, the molecular mechanism of sorting in the parotid salivary gland is unknown....
The immune system is of profound importance for host survival due to its ability to clear many acquired diseases. In case of infections and cancer, disease arises due to under-performance of immune system. Whereas in autoimmunity and...
O -linked β-N-acetylglucosamine ( O -GlcNAc) is an inducible, dynamically cycling, and reversible post-translational modification of serine/threonine amino acid residues of nucleocytoplasmic and mitochondrial proteins. O -GlcNAc transferase (OGT)...
