Now showing items 1-10 of 19
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
(Nature Publishing, 2002)
Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal ...
Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias
[No abstract available]
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 ...
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 ...
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 ...
The SOCS-1 gene methylation in chronic myeloid leukemia patients
(John Wiley & Sons, Inc., 2007)
SOCS-1, an important protein in the JAK/STAT pathway, has a role in the down stream of BCR-ABL protein kinase. We investigated 56 CML patients and 16 controls for the methylation status of SOCS-1 gene promoter and Exon 2 ...
Endothelial progenitor cells display clonal restriction in multiple myeloma
(BioMed Central Ltd., 2006)
Background: In multiple myeloma (MM), increased neoangiogenesis contributes to tumor growth and disease progression. Increased levels of endothelial progenitor cells (EPCs) contribute to neoangiogenesis in MM, and, ...
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene
(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 ...
Discrimination against teenagers in the mall environment: a case from Ankara, Turkey
(Libra Publishers, 2009-02)
Teenagers spend much of their leisure time at shopping malls which is a result of factors such as parental constraint due to the incivility of the streets, financial dependence, and limited financial resources. Migros, a ...
Expression of IFITM1 in chronic myeloid leukemia patients
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 ...