Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 36 for “"MLH1"”.
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Identification of proteins interacting with the human mismatch repair protein MLH1
… of the human DNA mismatch repair (MMR) gene, hMLH1, is seen in a number of tumour cell lines resistant to a variety of cytotoxic drugs. The aim of this study was to identify other proteins that interact with hMLH1 to attempt to further elucidate its role in MMR and the engagement of downstream …
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Investigating DNA remodeling in DNA mismatch repair
… clamp (PCNA)-stimulated endonuclease Mlh1-Pms1/PMS2 (yeast/human), which nicks the DNA distal to the mismatch location and a pre-existing single strand break, that may allow the pathway to distinguish between DNA strands. The Mlh1-Pms1/PMS2-generated nick allows downstream proteins to …
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New Insights into the Roles of FAN1 Nuclease in Genome Maintenance and Disease
… interacts with the mismatch repair (MMR) protein MLH1, which, together with MLH3, is indispensable for CAG repeat expansion in HD. Here, I show that FAN1 interacts with MLH1 via a well conserved MLH1- interacting peptide motif (MIP-box) on FAN1, which is necessary for FAN1-MLH1 interaction. I …
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Determining the Roles that DICER1 and Noncoding RNAs Play in Endometrial Tumorigenesis
… methylation of the promoter region of the MLH1 DNA mismatch repair gene in endometrial cancer is associated with loss of MLH1 expression and a "mutator phenotype" in endometrial and other cancers. The molecular and cellular processes leading to aberrant methylation of the MLH1 promoter …
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Determination of an interaction between the DNA repair proteins MLH1 and sMBD4 and aspirin regulation of DNA repair gene and protein expression in colorectal cancer
… coupled to a mismatch repair protein MLH1. To date the significance of this coupling has not been elucidated and the significance of MBD4 within the mismatch repair system and apoptotic pathway is still being understood. Recently a novel alternatively spliced form of MBD4 has been …
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Genomics of Lynch syndrome and Constitutional mismatch repair deficiency syndrome
… in one of the mismatch repair (MMR) genes e.g. MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome (or hereditary non-polyposis colorectal cancer). In our South African cohort, the MLH1 exon 13 c.1528C>T mutation is the most common Lynch syndrome-causing …
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Analysis of prognostic and drug resistance markers in lung cancer
… the epigenetic phenomenon of methylation of the MLH1 (a major mismatch repair protein) gene promoter region. Studies have shown that the loss of MLH1 expression is associated with acquired resistance in ovarian and breast cancers. Allelic imbalance (loss of heterozygosity) of chromosome 3p is …
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Equine Spermatogenesis: Meiotic Chromosome Behavior and Recombination
… repair protein MutL Homologous Protein 1 (MLH1) foci on synaptonemal complexes (SCs) from sex fertile stallions. The mean frequency of autosomal recombination foci was 50.11±2.35. All autosomal bivalents had at least one recombination focus. In general, foci were located near the distal …
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Visualizing the One-Dimensional Diffusion of DNA Mismatch Repair Proteins at the Single-Molecule Level
… along DNA by the protein complexes Msh2-Msh6 and Mlh1-Pms1 in order to locate and remove mispaired bases. The details of these critical processes remain poorly understood, largely due to a lack of experimental methods capable of probing these dynamic processes. A custom total internal reflection …
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The histopathology and immunohistochemical expression of cell cycle regulators and mismatch repair gene proteins in colorectal carcinoma : a comparative study
… p27, cyclin D1, cyclin E, p53, c- myc MMP -7, MLH1, MSH2 and MSH6. Results were considered statistically significant if P < 0.05, and P <0.017 if 3 pairs of medians were compared. Results: The mutation positive tumours were more frequently right sided tumours and showed mucinous …
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Investigating the molecular dynamics of gene re-silencing following treatment with epigenetic therapies
… following 5-Aza-dC exposure, a model gene (MLH1) and cell line (the colorectal carcinoma cell line RKO) were identified and validated. Gene reactivation was dependent on DNMT1 depletion and hypomethylation, nucleosome eviction and the acquisition of active histone marks at the MLH1 promoter. …
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Evaluating The Utility of Clinical Criteria For The Identification of Lynch Syndrome Among Endometrial Cancer Patients
… tumors exhibiting immunohistochemical loss of MLH1, we used the PCR-based <em>MLH1</em> methylation assay to delineate PLS tumors from sporadic tumors. Samples lacking methylation of the <em>MLH1</em> promoter were also designated as PLS. The sensitivity and specificity for SGO criteria for …
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Mismatch Repair Deficient Tumors Lacking Known Sporadic Causes: Are They All Due to Lynch Syndrome?
… endometrial (EC) cancers in the absence of <em>MLH1 </em>promoter hypermethylation and <em>BRAF</em> mutations are suggestive of Lynch syndrome (LS). Positive germline genetic test results confirm LS. It is unclear if individuals with MMRD tumors but no identified germline mutation or sporadic …
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Impact of the gut microbiota on DNA methylation in colorectal cancer
… in female patients, and a higher frequency of MLH1 hypermethylation. To study the association between CIMP and the gut microbiota, we analyzed the enrichment of four bacterial species associated with CRC, including Bacteroides fragilis, Escherichia coli, Fusobacterium nucleatum, and Klebsiella …
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ATM plays multiple roles in crossover regulation during mouse spermatogenesis
… of DMC1 foci that mark DSB intermediates and MLH1 foci that mark class I crossovers suggests that compromised ATM signaling disrupts crossover homeostasis, the maintenance of crossover number despite fluctuating DSBs. Strikingly, when <em>Spo11 </em>and <em>Atm</em> are both reduced, the …
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Investigating the clinicopathological spectrum and associated genetics of colorectal carcinoma in young (<60 years of age) patients in the Western Cape Province
… in the corresponding MMR gene in 14 of 18 (78%) MLH1/PMS2-deficient tumours, 5 of 8 (63%) MSH2/MSH6-deficient tumours, 1 of 4 (25%) tumours with isolated MSH6 loss, and 0 of 2 tumours with isolated PMS2 loss. Cases with a variant allele frequency suggesting a germline mutation were identified in …
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Global Microsatellite Content Potentially Distinguishes Humans, Primates, Animals, and Plants
… in vitro model of microsatellite instability, an MLH1 knockout (RKO6) cell line. Moreover, we demonstrate that microsatellite content varies predictably by species, and that particular motifs are characteristic of one species versus another. For instance, hominid-specific microsatellite motifs …
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Loss of Mismatch Repair in the Aging Human Hematopoietic Stem Cell
… loss of the DNA mismatch repair (MMR) protein MLH1 expression in the HSCs obtained from healthy normal donors. Based on this observation ASCs cannot, as previously thought, be truly immune to the effects of the aging process, nor is it likely these cells possess infinite expansion potential. In …
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Lessons from a pilot study of screening for upper tract urothelial cell carcinoma in Lynch Syndrome
… Results: Of the 89 patients screened, 86 had an MLH1 mutation and 2 had an MSH2 mutation. Eleven of the 12 patients who had microscopic haematuria were female. 10 patients had urinary tract infections. One patient had follicular cystitis and another had a simple renal cyst. No patients had …
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Role of DNA repair protein ERCC1 in skin cancer
… repair proteins, including XPF, MSH2, MSH6 and MLH1 in human melanoma cells and ovarian tumour cells. Significantly elevated protein levels of ERCC1 and XPF, as well as the mismatch repair protein MLH1 were found in melanoma cells. This could possibly contribute to the higher resistance to …
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