Now showing items 21-25 of 25
Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis
(John Wiley & Sons, Inc., 2009)
Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a ...
Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair
(B M J Group, 2014)
Background: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10-8 mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de ...
MDM2 T309G polymorphism is associated with bladder cancer
(International Institute of Anticancer Research, 2006)
Recently, a functional T to G polymorphism at nucleotide 309 in the promoter region of the MDM2 gene (rs: 2279744, SNP 309) has been identified. This polymorphism has an impact on the expression of the MDM2 gene, which is ...
Skewed X-chromosome inactivation in scleroderma
(Springer New York, 2008)
Scleroderma is a female-prevalent autoimmune disease of unclear etiology. Two fundamental gender differences, skewed X-chromosome inactivation (XCI) and pregnancy-related microchimerism, have been implicated in scleroderma. ...
Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases
(BioMed Central, 2009)
Introduction The majority of autoimmune diseases such as rheumatoid arthritis (RA) and autoimmune thyroid diseases (AITDs) are characterized by a striking female predominance superimposed on a predisposing genetic background. ...