Now showing items 1-10 of 25
p53 codon 72 polymorphism in bladder cancer-No evidence of association with increased risk or invasiveness
We studied the effect of the p53 gene Arg72Pro polymorphism on bladder cancer susceptibility in a case control study of 121 bladder cancer patients and 114 age-sex matched controls to determine whether this polymorphism ...
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 ...
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations
(Cell Press, 2000)
Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our ...
TP53 mutations in familial breast cancer: Functional aspects
(John Wiley & Sons, Inc., 2003)
Mutation in p53 (TP53) remains one of the most commonly described genetic events in human neoplasia. The occurrence of mutations is somewhat less common in sporadic breast carcinomas than in other cancers, with an overall ...
HER2 and proliferation of wound-induced breast carcinoma
(The Lancet Publishing, 2003-11-01)
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 ...
Identification of endogenous reference genes for qRT-PCR analysis in normal matched breast tumor tissues
(Cognizant Communication Corporation, 2009)
Quantitative gene expression measurements from tumor tissue are frequently compared with matched normal and/or adjacent tumor tissue expression for diagnostic marker gene selection as well as assessment of the degree of ...
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, ...
Assessment of diagnostic enzyme-linked immunosorbent assay kit and serological markers in human brucellosis
This study was performed to evaluate commercial brucella immunoglobulin G and M-enzymelinked immunosorbent assay (IgG and IgM ELISA) kits for the diagnosis of human brucellosis and to suggest a candidate prognostic marker ...