Please use this identifier to cite or link to this item: http://scholarbank.nus.edu.sg/handle/10635/143314
Title: FUNCTIONAL CHARACTERIZATION OF GENES ASSOCIATED WITH ATOPIC DERMATITIS
Authors: SRI ANUSHA MATTA
Keywords: Atopic Dermatitis, Skin, Kallikrein, Genetic association, Chitinase-3-like1, Chymase
Issue Date: 21-Jan-2016
Citation: SRI ANUSHA MATTA (2016-01-21). FUNCTIONAL CHARACTERIZATION OF GENES ASSOCIATED WITH ATOPIC DERMATITIS. ScholarBank@NUS Repository.
Abstract: ATOPIC DERMATITIS (AD) IS A CHRONIC, INFLAMMATORY DISORDER OF THE SKIN. MANY CANDIDATE GENES ASSOCIATED WITH THE PRESENTATION OF AD HAVE BEEN IDENTIFIED, BUT ONLY A HANDFUL HAVE BEEN FUNCTIONALLY CHARACTERIZED AND VALIDATED. THIS THESIS AIMS TO ELUCIDATE THE VARIOUS GENETIC, EPIGENETIC AND ENVIRONMENTAL FACTORS ALONG WITH GENE-GENE AND GENE-ENVIRONMENT INTERACTIONS THAT MAY INFLUENCE AND MASK THE GENETIC ASSOCIATION WITH THE DISEASE. KALLIKREINS (KLKS) PLAY AN IMPORTANT ROLE IN SKIN BARRIER HOMEOSTASIS. WE OBSERVED THAT ALLELIC VARIANTS OF KLK14 WERE DIFFERENTIALLY ACTIVATION BY KLK5. THE LEVELS OF KLK5 ON THE STRATUM CORNEUM, IN TURN, WERE INFLUENCED BY ENVIRONMENTAL FACTORS. CHI3L1, A PROTEIN INVOLVED IN COLLAGEN FIBRIL FORMATION, WERE ALSO EVALUATED. ALLELIC VARIANTS AT THE PROMOTER WERE ASSOCIATED WITH CHANGE IN EXPRESSION OF THE PROTEIN. ALLELIC VARIANTS OF CMA1, AN IMPORTANT CHYMASE PARTICULARLY FOUND ON MAST CELLS, WERE SHOWN TO HAVE AN EFFECT ON SPLICING AND PROMOTER ACTIVI
URI: http://scholarbank.nus.edu.sg/handle/10635/143314
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