Article
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.
American journal of human genetics - 4 May 2012
Jordan Catherine T, Cao Li, Roberson Elisha D O, Duan Shenghui, Helms Cynthia A, Nair Rajan P, Duffin Kristina Callis, Stuart Philip E, Goldgar David, Hayashi Genki, Olfson Emily H, Feng Bing-Jian, Pullinger Clive R, Kane John P, Wise Carol A, Goldbach-Mansky Raphaela, Lowes Michelle A, Peddle Lynette, Chandran Vinod, Liao Wilson, Rahman Proton, Krueger Gerald G, Gladman Dafna, Elder James T, Menter Alan, Bowcock Anne M
Abstract excerpt
Psoriasis is a common inflammatory disorder of the skin and other organs. We have determined that mutations in CARD14, encoding a nuclear factor of kappa light chain enhancer in B cells (NF-kB) activator within skin epidermis, account for PSORS2. Here, we describe fifteen additional rare missense variants in CARD14, their distribution in seven psoriasis cohorts (>6,000 cases and >4,000 controls), and their...
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