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      • Faculty of Science
      • Department of Molecular Biology and Genetics
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      Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases

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      Author
      Chabchoub, G.
      Uz, E.
      Maalej, A.
      Mustafa, C. A.
      Rebai, A.
      Mnif, M.
      Bahloul, Z.
      Farid, N. R.
      Ozcelik, T.
      Ayadi, H.
      Date
      2009
      Source Title
      Arthritis Research and Therapy
      Print ISSN
      1478-6362
      Publisher
      BioMed Central
      Volume
      11
      Issue
      4
      Pages
      1 - 8
      Language
      English
      Type
      Article
      Item Usage Stats
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      Abstract
      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.
      Keywords
      Androgen receptor
      Cyclic citrullinated peptide antibody
      Hydroxychloroquine
      Methotrexate
      Penicillamine
      Rheumatoid factor
      Autoantibody
      Allele
      Autoimmune thyroiditis
      Chromosome analysis
      Controlled study
      Female
      Genetic association
      Genetic predisposition
      Human
      Immunosuppressive treatment
      Major clinical study
      Phenotype
      Polymerase chain reaction
      X chromosome inactivation
      Autoimmune disease
      Blood
      Enzyme linked immunosorbent assay
      Genetics
      Middle aged
      Rheumatoid arthritis
      Thyroid disease
      X chromosome
      Adult
      Arthritis, Rheumatoid
      Autoantibodies
      Autoimmune Diseases
      Chromosomes, Human, X
      Enzyme-Linked Immunosorbent Assay
      Fluorescent Antibody Technique
      Genetic Predisposition to Disease
      Humans
      Polymerase Chain Reaction
      Thyroid Diseases
      Tunisia
      Permalink
      http://hdl.handle.net/11693/22696
      Published Version (Please cite this version)
      http://dx.doi.org/10.1186/ar2759
      Collections
      • Department of Molecular Biology and Genetics 452
      • Nanotechnology Research Center (NANOTAM) 1039
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        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 ...
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        X chromosome inactivation and female predisposition to autoimmunity 

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        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)
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