76 citations,
December 2011 in “Journal of Cell Science” The study analyzed keratin sequences from various species, focusing on epidermal, simple-type epithelial, and hair keratins. It found that keratin domains have distinct amino acid compositions: hair keratins are rich in cysteines and prolines, epidermal keratins are abundant in glycine and phenylalanine but low in alanine, and simple-type epithelial keratins are enriched in acidic and basic residues. These differences are evolutionarily conserved and reflect the unique structural and functional roles of each keratin type. Additionally, cysteines and histidines, though rare, are frequently involved in de novo mutations in keratins, highlighting their significance in keratin function and mutation hotspots.
47 citations,
June 2012 in “The Plant Journal” Phosphorylation of certain parts of the PIN3 protein is crucial for its role in plant root growth and response to gravity.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
43 citations,
May 1999 in “Journal of Biological Chemistry” Agouti protein affects melanocortin receptors through competitive antagonism and receptor down-regulation.
1308 citations,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.