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Reduction of the Mlh1 protein level leads to defective oocytes that fail to complete embryogenesis after fertilization thereby reducing female fertility.
Results suggest that Xenopus MBD4 (show MBD4 Proteins)/MLH1 participates in a novel G2 checkpoint that is responsive to DNMT1p levels in developing embryos and cells.
Male mlh1 mutants are sterile and display an arrest in spermatogenesis at metaphase I, resulting in increased testis weight due to accumulation of prophase I spermatocytes.
In zebrafish mlh1 mutant (knock-out) males, a delay of both meiotic divisions occurs rather than complete arrest during meiosis I. Eggs fertilized with mutant sperm develop as malformed embryos and are aneuploid.
Identification and characterization of novel knockout mutants of the three major MMR (show MRC1 Proteins) genes, mlh1, msh2, and msh6 (show MSH6 Proteins), in zebrafish that develop tumors at low frequencies.
a causal relationship between MLH1-deficiency and incidence of oncogenic point mutations in tyrosine kinases driving cell transformation and acquired resistance to kinase-targeted cancer therapies, is reported.
high mutation ofMlh1(-/-)-deficient fetuses has little effect on the fetuses during their early developmental stages, whereas Mlh1(-/-)-deficient fetuses from X-ray irradiated mothers are clearly effected
radiation exposure could further increase the risk of colorectal carcinogenesis induced by inflammation under the conditions of Mlh1 deficiency.
these data identify Mlh1 and Mlh3 as novel critical genetic modifiers of HTT (show HTT Proteins) CAG instability, point to Mlh1 genetic variation as the likely source of the instability difference in B6 and 129 strains
Data indicate that Mlh1 showed only modest methylation was still expressed in both Mlh1(+/-) and Mlh1(+/+) mice.
nickel-smelting fumes upregulated the expression of Mlh1 protein, mouse . This suggest that nickel-smelting fumes could be toxic to cells, inducing cell apoptosis and necrosis.
suggesting a role for the ATPase activity of MLH1 beyond the activation of the endonuclease functions of its MMR (show MRC1 Proteins) partner PMS2 (show PMS2 Proteins)
Down-regulation of MLH1 is associated with initiation and growth of neuroblastoma (show ARHGEF16 Proteins) and brain tumour multicellular spheroids.
MLH1 can convert DNA nicks and point mutations into double-stranded DNA breaks for both core nonhomologous end-joining factors and alternative end-joining pathways of class-switch recombination.
Data show that the constitutive inactivation of MLH1, resulting Mlh1(Deltaex4/Deltaex4) mouse line, displays complete MMR (show MRC1 Proteins) deficiency and a cancer predisposition phenotype similar to Mlh1-/- mice.
Low MLH1 expression is associated with Colonic Adenoma and Adenocarcinoma.
Single-Nucleotide Polymorphisms of the MLH1 is associated with Basal Cell Carcinoma.
this meta-analysis suggested that hMLH1 methylation was associated with an increased CRC (show CALR Proteins) risk.
The DNA mismatch repair gene (MMR (show MRC1 Proteins)) plays an important role in anti-carcinogenesis and MMR (show MRC1 Proteins) gene deficiency.
Study investigated the counteraction of oxidative stress by vitamin E in the colorectal cancer cell line Caco-2 under normal and high glucose cell culture condition. Gene expression and promoter methylation of the DNA repair gene MutL homolog 1 (MLH1) and the DNA methyltransferase 1 (DNMT1 (show DNMT1 Proteins)) were investigated. Induction of MLH1 and DNMT1 (show DNMT1 Proteins) gene expression was noticed, accompanied by an increase in global methylation.
the results identified for the first time a MLH1 missense mutation (NM_000249.3:p.Tyr379Ser/c.1136A>C) in a Chinese family with Gardner syndrome (GS), thus broadening the range of mutated genes associated with GS.
MLH1's ATPase domain has a crucial role in preventing the aberrant formation of telomeric sequences at the intra-chromosomal regions and preserving genome stability.
provide evidence that four of the alterations in MLH1 are causative for Lynch syndrome, four are likely neutral and one shows compromised activity which can currently not be classified with respect to its pathogenic potential
This pilot study indicates oligozoospermic patients have more methylation of MLH1 than normozoospermic patients.
MLH1 and PMS2 (show PMS2 Proteins) can be imported to the nucleus by a classical nuclear import pathway
Meiosis progression and female age affect expression profile of DNA repair MLH1 gene in bovine oocytes.
This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.
MutL protein homolog 1
, DNA mismatch repair protein Mlh1
, mutL-like protein 1
, mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
, DNA mismatch repair protein Mlh1-like
, colon cancer, nonpolyposis type 2
, mutL protein homolog 1
, mismatch repair protein 1