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Skewed X chromosome inactivation in blood cells of women with scleroderma
(John Wiley & Sons, Inc., 2005)
Objective. Scleroderma (SSc) is an autoimmune disease of unknown etiology. The disease is 3-8 times more frequent in women than in men. The role of X chromosome inactivation (XCI) in the predisposition of women to autoimmunity ...
Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer
(International Institute of Anticancer Research, 2004)
Background: The RNASEL G1385A variant was recently found to be implicated in the development of prostate cancer. Considering the function of RNase L and the pleiotropic effects of mutations associated with cancer, we sought ...
Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion
(Wiley-Blackwell Publishing Asia, 2006)
Background: The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting. Aims: We therefore ...
DNA repair gene polymorphisms and bladder cancer susceptibility in a Turkish population
(International Institute of Anticancer Research, 2006)
Background: Occupational exposure and life style preferences, such as smoking are the main known environmental susceptibility factors for bladder cancer. A growing list of chemicals has been shown to induce oxidative DNA ...
Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity
(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 ...
Frequent and specific immunity to the embryonal stem cell-associated antigen SOX2 in patients with monoclonal gammopathy
(Rockefeller University Press, 2007)
Specific targets of cellular immunity in human premalignancy are largely unknown. Monoclonal gammopathy of undetermined significance (MGUS) represents a precursor lesion to myeloma (MM). We show that antigenic targets of ...
Expression of IFITM1 in chronic myeloid leukemia patients
(Elsevier, 2005)
We investigated the peripheral blood gene expression profile of interferon induced transmembrane protein 1 (IFITM1) in sixty chronic myeloid leukemia (CML) patients classified according to new prognostic score (NPS). IFITM1 ...
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 ...
Generation of InN nanocrystals in organic solution through laser ablation of high pressure chemical vapor deposition-grown InN thin film
(Springer, 2012-07-27)
We report the synthesis of colloidal InN nanocrystals (InN-NCs) in organic solution through nanosecond pulsed laser ablation of high pressure chemical vapor deposition-grown InN thin film on GaN/sapphire template substrate. ...
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
(Springer, 2010)
Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes ...