Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases
Arthritis Research and Therapy
1 - 8
Item Usage Stats
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. The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of several autoimmune diseases.
Cyclic citrullinated peptide antibody
Major clinical study
Polymerase chain reaction
X chromosome inactivation
Enzyme linked immunosorbent assay
Chromosomes, Human, X
Enzyme-Linked Immunosorbent Assay
Fluorescent Antibody Technique
Genetic Predisposition to Disease
Polymerase Chain Reaction
Published Version (Please cite this version)http://dx.doi.org/10.1186/ar2759
Showing items related by title, author, creator and subject.
Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity Ozcelik, T.; Uz, E.; Akyerli, C. B.; Bagislar, S.; Mustafa, C. A.; Gursoy, A.; Akarsu, N.; Toruner, G.; Kamel, N.; Gullu, S. (Nature Publishing Group, 2006)The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One ...
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene Kaplan, Y.; Vargel, I.; Kansu, T.; Akin, B.; Rohmann, E.; Kamaci, S.; Uz, E.; Ozcelik, T.; Wollnik, B.; Akarsu, N. A. (BMJ Group, 2008)Aims: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family. Methods: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions ...