Now showing items 1-10 of 34
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)
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 ...
Translational control of human p53 expression in yeast mediated by 5′-UTR-ORF structural interaction
We have expressed human p53 cDNA in the yeast Saccharomyces cerevisiae and shown that the level of production and the lenght of the p53 protein depends on the presence of untranslated mRNA regions (UTRs). The expression ...
Frequent demonstration of human herpesvirus 8 (HHV-8) in bone marrow biopsy samples from Turkish patients with multiple myeloma (MM)
(Nature Publishing, 2001)
In order to investigate the frequency of HHV-8 in MM patients from another geographic location, we obtained fresh bone marrow (BM) biopsies from Turkish patients with MM (n = 21), monoclonal gammopathy of undetermined ...