msh6 gene
Computational Analysis of Deleterious Single Nucleotide Polymorphisms (SNPs) in Human MutS Homolog6 (MSH6) Gene
... in MSH6 gene had been related to group of cancers called lynch syndrome which accounts for 3% to 5% of all colorectal ...studied MSH6 mutations, the mechanism by which these mutations promote ...
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Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
... Genomic DNA was extracted as previously described [24]. The entire coding region and exon-intron junctions of the MLH1, MSH2 and MSH6 genes (GenBank acces- sion numbers NM_000249.3; NM_000251.2; NM_ 000179.2, ...
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DNA mismatch repair gene MSH6 implicated in determining age at natural menopause
... the MSH6 gene on chromosome ...allele. MSH6 heterodimerizes with MSH2 to form the MutS alpha protein complex, which is involved in mismatch repair (MMR), predominantly of single base mismatches and ...
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Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome
... in MSH6 [5]. In this study we performed mutation analysis of MSH6 in 97 patients with CRC belonging to 74 families selected by the AC and ...identified MSH6 (Table ...the MSH6 protein, making ...
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Requirement for Msh6, but Not for Swi4 (Msh3), in Msh2-Dependent Repair of Base-Base Mismatches and Mononucleotide Loops in Schizosaccharomyces pombe
... rived from msh6 ⫹ , outside the transformed fragment (nt 3309– situation in S. cerevisiae and other species. 3329). Positive clones were tested by Southern hybridization (data not shown) and one was chosen for ...
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The Role of DNA Mismatch Repair and Recombination in the Processing of DNA Alkylating Damage in Living Yeast Cells
... the MSH6 gene also reduces the accumulation of RAD52 foci (Figure 3(a)) by approximately 9-fold (Figure ...MSH3 gene did not significantly reduced the formation of RAD52 fo- ci upon treatment with ...
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PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor
... a gene responsible for Lynch syndrome, previously referred to as hereditary non- polyposis colorectal cancer, was mutated in this case of granulosa cell ...
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Polymorphism of Gly39Glu (c.116G>A) hMSH6 is associated with sporadic colorectal cancer development in the Polish population: Preliminary results
... Material and methods. A total of 128 patients with resectable colorectal carcinoma as well as 189 sex-, age-, and ethnicity-matched control subjects without cancer history were enrolled in this study. Patients with a ...
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Heterogenous mismatch-repair status in colorectal cancer
... Variable MMR status did in some tumors correspond to variable differentiation, e.g. mucinous areas (cases 5 and 15), poor differentiation (cases 16 and 17) or aden- omatous components (case 2, Figure 3). Correlation be- ...
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Mismatch repair deficiency associated with complete remission to combination programmed cell death ligand immune therapy in a patient with sporadic urothelial carcinoma: immunotheranostic considerations
... 2; MSH6: MutS protein homolog 6; PMS2: Mismatch repair endonuclease PMS2; mAb: Monoclonal antibody; MMR: Mismatch repair; MMRD: Mismatch repair deficiency; MSI: Microsatellite instability; MSS: Microsatellite ...
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<p>Identification of key genes and pathways in Ewing’s sarcoma patients associated with metastasis and poor prognosis</p>
... and Msh6 altered the cell cycle distribution in yeast, and result in large percentage of cells in G1, implicat- ing overexpression of MMR genes may promote cancer ...
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Constitutional Mismatch Repair Deficiency Syndrome Is a Rare Cause of Cancer Even in a Highly Consanguineous Population
... The mismatch repair (MMR) system contributes to gen- ome integrity and DNA replication fidelity; and the MLH1, MSH2, MSH6 and PMS2 genes play a major role in this process [1]. MMR primarily remedies base-base ...
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Oncogenic MSH6-CXCR4-TGFB1 Feedback Loop: A Novel Therapeutic Target of Photothermal Therapy in Glioblastoma Multiforme
... antibodies: MSH6, N-cadherin, Vimentin, E-cadherin, p-AKT, p-STAT3, p-Smad2/3, p-ERK, p-p38, p-JNK, p-p65, STAT3, Smad2/3, ERK, p38, JNK and p65 antibodies were obtained from Cell Signaling Technology (Danvers, ...
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Control of GT Repeat Stability in Schizosaccharomyces pombe by Mismatch Repair Factors
... Msh2, Msh6, and Pms1 turned out to be important com- this study are insertions at an existing GT dinucleotide in the ponents of MMR in repair of base-base mismatches and ade6 gene at position 1397, with the ...
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Sequence Composition and Context Effects on the Generation and Repair of Frameshift Intermediates in Mononucleotide Runs in Saccharomyces cerevisiae
... could argue that the Msh2p-Msh3p and Msh2p-Msh6p the Msh2p-Msh3p and Msh2p-Msh6p mismatch-binding complexes have similar affinities for the corresponding complexes, but also could be related to whether the frameshift ...
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<p>Evaluation of Concordance Between Deficient Mismatch Repair and Microsatellite Instability Testing and Their Association with Clinicopathological Features in Colorectal Cancer</p>
... with MSH6 mutations did not demonstrate MSI-H by PCR-CE because of a functional redundancy in the MMR system but demonstrated loss of MSH6 staining by IHC ...
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MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
... of MSH6 mutation carriers presented in a previous study were there was a clear difference between males and females at age 70 years ...different MSH6 mutation positive Lynch syndrome cohorts displayed a ...
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Dynamics and Heterogeneity of Gene Expression and Epigenetic Regulation at the Single-Cell Level
... There are two types of characterized mechanisms that can mediate gene regulation down- stream of chromatin modifications. The first type involves disrupting the contacts between different histones in neighboring ...
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Acute myeloid leukemia and transcription factors: role of erythroid Krüppel-like factor (EKLF)
... We have investigated the role of erythroid transcription factors mRNA expression in patients with acute myeloid leukemia (AML) in the context of cytogenetic and other prognostic molecular markers, such as FMS-like ...
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Gene × gene and gene × environment interactions for complex disorders
... BioMed CentralBMC Proceedings ss Open AcceProceedings Gene ? gene and gene ? environment interactions for complex disorders Robert Culverhouse*1, Anthony L Hinrichs2, Carol H Jin2,3 and Brian K Suarez[.] ...
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