نتایج جستجو برای: mlh1
تعداد نتایج: 1941 فیلتر نتایج به سال:
MLH1 PROMOTER HYPERMETHYLATIO OFFERS BETTER DIAG OSTIC 1 YIELD THA BRAF V600E MUTATIO I THE A ALYTICAL ALGORITHM OF 2 LY CH SY DROME 3 4 Running Head: MLH1 HYPERMETHYLATION OFFERS BETTER YIELD THAN BRAF 5 MUTATION 6 7 M Gausachs, P Mur, J Corral, M Pineda, S González, L Benito, M Menéndez, JM 8 Borràs, MD Iniesta, SB Gruber,C Lázaro, I Blanco, G Capellá (List of authors proposal 9 ; order and n...
background: germline mutations in mmr genes are reported to be present in more than 70% of hnpcc cases. but, there is a paucity of data regarding the importance of defect of mmr system in the gastric cancer in general. so, in this study, we used ihc stain formlh1,msh2, pms2 andmsh6 to reveal profile ofmmr expression in patients with gastric cancer. materials and methods: this study was performe...
AIM To implement molecular analysis in the clinical diagnosis and management of Lynch syndrome (LS). METHODS We analyzed the mutations in MLH1 and MSH2 in the selected LS families from the Republic of Macedonia. RESULTS We performed the very first genetic identification of LS families and characterized a novel mutation. The novel nonsense germline point mutation c.392C>G in the codon 131 of...
The absence or deficiency of DNA mismatch repair (MMR) activity results in microsatellite instability (MSI) in cancer. The avian leukosis virus (ALV) causes neoplastic disease in chickens. In this study, the status of MMR, MSI, the cell cycle and apoptosis were detected in DF-1 cells after avian leukosis virus subgroup A infection. Flow cytometry analysis results indicated that there was no sig...
Obesity is associated with low-grade inflammation, increased ROS production and DNA damage. Supplementation with antioxidants might ameliorate DNA damage and support epigenetic regulation of DNA repair. C57BL/6J male mice were fed a high-fat (HFD) or a control diet (CD) with and without vitamin E supplementation (4.5 mg/kg body weight (b.w.)) for four months. DNA damage, DNA promoter methylatio...
DNA mismatch repair has a key role in maintaining genomic stability. Defects in mismatch repair cause elevated spontaneous mutation rates and increased instability of simple repetitive sequences, while mutations in human mismatch repair genes result in hereditary nonpolyposis colorectal cancers. Mismatch recognition represents the first critical step of mismatch repair. Genetic and biochemical ...
Deoxyinosine (dI) occurs in DNA either by oxidative deamination of a previously incorporated deoxyadenosine residue or by misincorporation of deoxyinosine triphosphate (dITP) from the nucleotide pool during replication. To exclude dITP from the pool, mammals possess specific hydrolysing enzymes, such as inosine triphosphatase (ITPA). Previous studies have shown that deficiency in ITPA results i...
Background: MLH*D132H, a variant of the mismatch repair gene MLH1, was reported linked to an increased risk for colorectal carcinoma in Israeli patients. We evaluated U.S. Jewish patients with adenomas for this gene variant and compared the results to that of three other minor variants. Methods: DNA was screened for the MLH1*D132H variant using standard PCR followed by melting point analysis or...
Mutations in DNA MMR genes, mainly MSH2 and MLH1, account for the majority of HNPCC, an autosomal dominant predisposition to colorectal cancer and other malignancies. The evaluation of many questions regarding HNPCC requires clinically and genetically well-characterized HNPCC patient cohorts of reasonable size. One main focus of this multicenter study is the evaluation of the mutation spectrum ...
OBJECTIVE Lynch syndrome is a hereditary cancer syndrome that increases the risks of colorectal and gynecologic malignancies such as endometrial and ovarian cancer. Studies have shown that mutations in mismatch repair genes (MSH2, MSH6, and MLH1) are associated with Lynch syndrome. The aim of our study was to estimate the value of MSH2, MSH6, and MLH1 immunohistochemistry based on family histor...
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