Mucin 1 (MUC1) is a plasma membrane-bound glycoprotein that plays a protective role in corneal epithelial cells. Two full-length splice variants of MUCl: MUCl/B and MUCl/A, that differ by the inclusion of 27 bp from intron 1 and a SNP in MUCl/A,...
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...
Embryonic development requires the orchestration of temporally precise genetic events that culminate in the formation of a complete organism. The molecular mechanisms responsible for ontogenesis are regulated by environmental and somatic factors in...
