نتایج جستجو برای: mlh3
تعداد نتایج: 113 فیلتر نتایج به سال:
DNA repair is essential for the maintenance of genetic stability. We undertook sequencing to determine common genetic variants in 70 genes involved in three major repair pathways (base excision repair, nucleotide excision repair and mismatch repair) and in DNA synthesis, and investigated their relationship to lung and head and neck (H-N) cancers. Of the 70 genes examined, 62 were successfully s...
Significant endocrine therapy-resistant tumor proliferation is present in ≥20% of estrogen receptor-positive (ER+) primary breast cancers and is associated with disease recurrence and death. Here, we uncover a link between intrinsic endocrine therapy resistance and dysregulation of the MutL mismatch repair (MMR) complex (MLH1/3, PMS1/2), and demonstrate a direct role for MutL complex loss in re...
While searching for germline mutations in MLH1 and MSH2 mismatch repair genes in patients aVected with hereditary non-polyposis colorectal cancer (HNPCC), we have observed that human chromosome 3 carries two main haplotypes of the housekeeping gene MLH1. This so called caretaker gene acts as a major guardian of the genome, and cells in which MLH1 is inactivated develop a characteristic mutator ...
While searching for germline mutations in MLH1 and MSH2 mismatch repair genes in patients aVected with hereditary non-polyposis colorectal cancer (HNPCC), we have observed that human chromosome 3 carries two main haplotypes of the housekeeping gene MLH1. This so called caretaker gene acts as a major guardian of the genome, and cells in which MLH1 is inactivated develop a characteristic mutator ...
Background: Though the incidence of colorectal carcinoma (CRC) is relatively uncommon in Nigeria, compared to the developed countries, recent studies indicate an increasing trend. Our patients often present at an earlier age, which has important implications for the pathogenesis in Nigeria. MLH1, MSH2, MSH6, PMS2 are the commonly mutated MMR genes in descending order of frequency, with PMS1 and...
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disease with high penetrance, caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, PMS2 and MLH3. Most reported pathogenic mutations are point mutations, comprising single base substitutions, small insertions and deletions. In addition, genomic rearrangements, such as large deletions and dupl...
BACKGROUND Excessive autoantibody production characterizing systemic lupus erythematosus (SLE) occurs irrespective of the disease's clinical status and is linked to increased lymphocyte apoptosis. Herein, we tested the hypothesis that defective DNA damage repair contributes to increased apoptosis in SLE. METHODS We evaluated nucleotide excision repair at the N-ras locus, DNA double-strand bre...
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