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Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
BACKGROUND & AIMS Germline mutations in the DNA mismatch repair (MMR) genes hMLH1 and hMSH2 are associated with susceptibility to hereditary nonpolyposis colorectal cancer (HNPCC). Because aExpand
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and NTHL1, although aExpand
5′-CpG island methylation of theLKB1/STK11 promoter and allelic loss at chromosome 19p13.3 in sporadic colorectal cancer
BACKGROUND In patients with Peutz-Jeghers syndrome (PJS), causative germline mutations in theLKB1/STK11 gene on chromosome 19p13.3 have been identified. Because of the loss of heterozygosity (LOH) atExpand
Thymosin beta 4 expression and nuclear transport are regulated by hMLH1.
For hMLH1, a key enzyme of DNA mismatch repair and frequently mutated in human cancers, several additional functions have been suggested. We now identified Thymosin beta4 (Tbeta4), an actin-bindingExpand
Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants
Background: Germline mutations in the mismatch repair (MMR) genes hMLH1 and hMSH2 can cause hereditary non-polyposis colorectal cancer (HNPCC). However, the functional in vitro analysis of hMLH1 andExpand
Characterization of the nuclear import of human MutLα
DNA mismatch repair (MMR) is essential for the maintenance of replication fidelity. Its major task is to recognize mismatches as well as insertion/deletion loops of newly synthesized DNA strands.Expand
Promoter Methylation of MLH1, PMS2, MSH2 and p16 Is a Phenomenon of Advanced-Stage HCCs
Epigenetic silencing of tumour suppressor genes has been observed in various cancers. Looking at hepatocellular carcinoma (HCC) specific protein silencing was previously demonstrated to be associatedExpand
Characterization of the nuclear import of human MutLalpha.
DNA mismatch repair (MMR) is essential for the maintenance of replication fidelity. Its major task is to recognize mismatches as well as insertion/deletion loops of newly synthesized DNA strands.Expand
N‐terminus of hMLH1 confers interaction of hMutLα and hMutLβ with hMutSα
Mismatch repair is a highly conserved system that ensures replication fidelity by repairing mispairs after DNA synthesis. In humans, the two protein heterodimers hMutSa (hMSH2-hMSH6) and hMutLaExpand
Refining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants
Background and aim The majority of mismatch repair (MMR) gene mutations causing Lynch syndrome (LS) occur either in MLH1 or MSH2. However, the relative contribution of PMS2 is less well defined. TheExpand
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