Expression of active and inactive forms of CIK and CARMA 2sh proteins in Normal Human Epidermal Keratinocytes (NHEK)
الملخص
Psoriasis is a debilitating skin disease affecting approximately 23% of human population. The disease is considered to have key genetic underpinning and genome wide association studies and meta analysis have identified more than 40 susceptibility loci for psoriasis. CARMA proteins play a major role in regulating activation of transcription factor NF-kB which is ubiquitously expressed in mammalian cells that play a central role in the control of immune and inflammatory response. Missense mutations in the CARMA2 gene have been shown to dominantly transmit the psoriatic trait with high penetrance. Most of the CARMA2 mutations associated with skin disorders clusters in the coiled coil domain of the protein.
DOI/handle
http://hdl.handle.net/10576/5478المجموعات
- الأبحاث [108 items ]