MUTYH Antibody

1. The MUTYH gene presents downregulation in the more advanced stages of colorectal cancer PMID: 29257843
2. MUTYH variants among Japanese colorectal polyposis patients. PMID: 29330641
3. Our results suggest that p.(Gly396Asp) in MUTYH, and potentially other mutations in additional members of the same DNA excision-repair pathway (such as the OGG1 gene) might be involved in driving the tumorigenesis leading to familial and sporadic small intestinal neuroendocrine tumors . PMID: 28634180
4. Knockdown of MYH in pancreatic cancer cells reduces tumor growth and sensitizes cells to antineoplastic agents. PMID: 27999205
5. Rheumatoid arthritis is associated with increased serum level of the MUTYH protein. PMID: 28173856
6. Inactivating MUTYH germline mutations are associated with high-grade midline gliomas. PMID: 26902849
7. this review focuses on multifaceted roles of MUTYH in the cell, both in the prevention of mutagenesis and tumorigenesis PMID: 28087410
8. Acetohexamide exerted this protective function by antagonizing expression of the DNA glycosylase, MUTYH. Together, our data reveal the existence of an NER-independent mechanism to remove UV-induced DNA damage and prevent cell death. PMID: 29149600
9. Data indicate that DNA glycosylases MYH, UNG2, MPG, NTH1, NEIL1, 2 and 3 on nascent DNA. PMID: 28575236
10. No biallelic mutation carriers for the MUTYH variants c.536A.G p.Tyr179Cys (Y179C) in exon 7 and c.1187G.A p.Gly396Asp (G396D) in exon 13 was found, after screening with a novel high resolution melt curve (HRM) analysis assay. PMID: 23805267
11. MUTYH p.Y179C mutation was associated with an increased risk of colorectal cancer among Egyptian patients rather than MUTYH p.G396D mutation. PMID: 27631816
12. The majority (18/23) of patients with Familial Adenomatous Polyposis and all of the patients with Attenuated Familial Adenomatous Polyposis with an Adrenal Lesion had a genetically proven syndrome.All of the patients with MUTYH-Associated Polyposis had a biallelic germline MUTYH mutation. PMID: 28891849
13. These results suggested that reduced MUTYH expression is associated with somatic mutation loads via a reduction in DNA repair capacity in prostate adenocarcinoma. PMID: 27253753
14. s 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. PMID: 27194394
15. 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. PMID: 27829682
16. Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas. PMID: 28127763
17. 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 PMID: 26694661
18. Case Report: MUTYH-associated polyposis with cutaneous sebaceous lesions. PMID: 27870730
19. The IVS10-2A>G MUTYH heterozygote variant might add to the risk of developing germline APC mutation negative colorectal adenomatous polyposis in Japanese patients. PMID: 26684191
20. MutY homolog Y165C and G382D mutations are not associated with cholangiocarinoma. PMID: 26881680
21. the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC mutation PMID: 26446593
22. A mutation in both a MUTYH and either a MLH1, MSH2 and PMS2 gene mutation is associated with colorectal cancer. PMID: 26202870
23. Expression of APC 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. PMID: 26511139
24. MUTYH mutations are prevalent among Jews of North-African origin with colorectal adenomas.Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers among among Jews of North-African origin. PMID: 25822476
25. We demonstrated that the rs3219463 and rs3219476 polymorphisms in RA patients from a Taiwan Chinese population were associated with disease susceptibility. These data indicate that the MUTYH gene may play a role in the progression of RA. PMID: 26273655
26. 47 MUTYH gene variants (site-directed mutagenesis) were generated, the proteins expressed in MutY-disrupted E. coli, and assessed their abilities to complement the functional deficiency in the E. coli by monitoring spontaneous mutation rates. PMID: 25820570
27. first study to show that SNPs of genes involved in DNA repair, may modulate the risk of Depressive Disorder. PMID: 26074017
28. The results of this study suggested that the MUTYH gene polymorphisms may play an important role in the etiology of Alzheimer's Disease. PMID: 25998844
29. adenine glycosylase activity, mismatch recognition properties and interaction with protein partners of MUTYH and 5 MAP variants were examined; P502L and R520Q had reduced affinity for PCNA; only Q324H was found to have reduced affinity for Hus1 PMID: 26377631
30. Results showed that AluYb8MUTYH variant was associated with high level of altered mtDNA in type 2 diabetes mellitus patients that may have resulted from inefficient base excision repair of MUTYH and a mechanism trigerred by elevated oxidative stress. PMID: 25829257
31. As well as MUTYH Tyr/Tyr and XPD Asp/Asn genotypes further increased the risk by 2.9. PMID: 25916209
32. Individuals with biallelic MUTYH mutations in MUTYH-associated polyposis are under-ascertained based on both genotype and phenotype under current standard testing practices. PMID: 24620956
33. Data suggest that detection of the c.34G>T KRAS transversion could imply biallelic germline mutY DNA glycosylase MUTYH mutation and lead to genetic counseling. PMID: 26056087
34. Biallelic MUTYH mutations impair the base excision repair process and can result in somatic mutational inactivation of both DNA mismatch repair alleles mimicking Lynch syndrome by displaying a DNA mismatch repair deficient tumor. PMID: 24518836
35. These data reveal that human Rad9 interacts directly with N-terminal region of human MYH. PMID: 25127721
36. Findings indicate that the type of MUTYH mutation can affect the extent of genome instability associated with MUTYH inactivation. PMID: 24569162
37. Monoallelic MUTYH hotspot mutations (p.G396D and p.Y179C) do not act as major genetic susceptibility factors causing a substantial CCA risk in the Caucasian population. PMID: 24420788
38. MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. PMID: 23361220
39. The 3 heterozygosity variants of MYH gene in a Chinese population. PMID: 24377541
40. An association may exist between MUTYH and AE. PMID: 24377542
41. A heterozygous p.Arg19 * MUTYH variant and a heterozygous p.Arg109Trp MUTYH variant were detected in one patient each. PMID: 24799981
42. A proportion of unexplained LLS cases is caused by biallelic MUTYH mutations. PMID: 24953332
43. We observed a low frequency of MUTYH mutations among patients with multiple adenomatous and serrated polyps. PMID: 24470512
44. It is a component of a base excision repair system that protects the genomic information from oxidative damage. PMID: 23605219
45. Results show that MYH is a vital DNA repair enzyme that protects cells from oxidative DNA damage and is critical for a proper cellular response to DNA damage. PMID: 24315136
46. Report shows that the interdomain connector (IDC) of human MYH (hMYH) maintains interactions with hAPE1 and the human checkpoint clamp Rad9-Rad1-Hus1 (9-1-1) complex. PMID: 24209961
47. this study shows that MutYH is ubiquitinated in vitro and in vivo by the E3 ligase Mule between amino acids 475 and 535. PMID: 24443563
48. The rs3219489 SNP in the MUTYH gene was marginally significant in association with colorectal cancer susceptibility. [Meta-analysis] PMID: 24039736
49. Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population. PMID: 24444654
50. the roles of the AluYb8MUTYH variant in impairing the mitochondrial base excision repair (mtBER) system PMID: 23936466

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HGNC: 7527

OMIM: 604933

KEGG: hsa:4595

STRING: 9606.ENSP00000361170

UniGene: Hs.271353