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qPCR analysis of cDNA from the cerebella of affected and unaffected horses suggested that MUTYH expression is down-regulated in affected horses.
Authors identified 266 probands (91% Caucasians) with a MUTYH mutation (41 biallelic and 225 monoallelic) from the Colon Cancer Family Registry. Mutation status, sex, age and histories of cancer from their 1,903 first- and 3,255 second-degree relatives were analyzed using modified segregation analysis conditioned on the ascertainment criteria.
A high heterogeneity of MUTYH variants and a high rate of variants of unknown significance were identified in a cohort of Italian patients with suspected MUTYH-associated polyposis. Genotype-phenotype analysis suggests that the p.Glu480del variant is associated with a severe phenotype.
Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas.
report of the results of functional evaluation of nine missense-type MUTYH variant proteins in the Japanese population; findingssuggest that p.N238S and p.R247G are likely to be pathogenic alleles for MUTYH-associated polyposis
Case Report: MUTYH-associated polyposis with cutaneous sebaceous lesions.
The IVS10-2A>G MUTYH heterozygote variant might add to the risk of developing germline APC (show APC ELISA Kits) mutation negative colorectal adenomatous polyposis in Japanese patients.
MutY homolog Y165C and G382D mutations are not associated with cholangiocarinoma.
the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC (show APC ELISA Kits) mutation
A mutation in both a MUTYH and either a MLH1 (show MLH1 ELISA Kits), MSH2 (show MSH2 ELISA Kits) and PMS2 (show PMS2 ELISA Kits) gene mutation is associated with colorectal cancer.
Expression of APC (show APC ELISA Kits) is decreased in mutation negative cases and this appears to be a promising indicator of FAP predisposition, while for MUTYH gene, mutation is associated to reduced mRNA expression.
Ogg1 (show OGG1 ELISA Kits) and Mutyh regulate hippocampal gene expression related to cognition and behavior, suggesting a role for the glycosylases in regulating adaptive behavior.
MUTYH loss is associated with an increase in inflammation associated colorectal cancer risk, which involves immunosuppression and altered inflammatory response.
Results show that MYH is a vital DNA repair enzyme (show LIG4 ELISA Kits) that protects cells from oxidative DNA damage and is critical for a proper cellular response to DNA damage.
a 5-methylcytosine glycosylase activity for the murine DNA base excision repair enzyme Myh is described and shown that it is critically involved in remodeling the IL-2 (show IL2 ELISA Kits) Promoter for transcription.
Data indicate that maternal folate depletion during pregnancy and high-fat feeding from weaning altered gene expression of Ogg1 (show OGG1 ELISA Kits), Neil1 (show NEIL1 ELISA Kits), Mutyh and Xrcc1 (show XRCC1 ELISA Kits) in the brain of adult offspring.
The action of MUTYH, which initiates excision repair of adenine opposite 8-oxoG, triggers neurodegeneration in mice.
OGG1 (show OGG1 ELISA Kits) and MYH appear to be dispensable for antimutator function in mitochondria.
Mutyh plays a major role in maintaining intestinal integrity by affecting the inflammatory response.
Aim of this study was to characterize the biological effects, in a mammalian cell background, of human MUTYH mutations identified in MUTYH-associated polyposis patients
Replication-associated repair of adenine:8-oxoguanine mispairs by MYH
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene.
mutY homolog (E. coli)
, A/G-specific adenine DNA glycosylase
, A/G-specific adenine DNA glycosylase-like
, mutY homolog
, adenine-DNA glycosylase
, mutY homolog alpha
, the full-length form type A, 5' region