Results 11 to 20 of about 208,585 (280)
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 [PDF]
Nature Communications, 2017 Lynch syndrome is characterized by predisposition to colorectal cancer and mutations in genes involved in mismatch repair. Here, the authors use whole genome sequencing and immunohistochemistry of mismatch repair proteins to show a high prevalence of ...
Sigurdis Haraldsdottir +26 more
doaj +3 more sources
Unexplained mismatch repair deficiency: Case closed
HGG Advances, 2023 Summary: To identify Lynch syndrome (LS) carriers, DNA mismatch repair (MMR) immunohistochemistry (IHC) is performed on colorectal cancers (CRCs). Upon subsequent LS diagnostics, MMR deficiency (MMRd) sometimes remains unexplained (UMMRd).
Ellis L. Eikenboom +9 more
doaj +4 more sources
Bibliometric analysis of immune dysregulation and immunotherapy in mismatch repair-deficient colon cancer [PDF]
Discover OncologyBackground Mismatch repair deficiency (dMMR) is observed in 12–15% of sporadic colon carcinomas. dMMR tumors have unique genetic characteristics, with mutation rates 10 to 100 times higher than those of tumors with intact mismatch repair functions ...
Xingtao Jin +7 more
doaj +2 more sources
Annals of Oncology Research and Therapy, 2021 Mismatch repair genes are responsible for discovering and repairing base mismatches during DNA replication in cells. Defects in mismatch repair function will lead to accumulation of gene mutations, microsatellite instability, and ultimately tumorigenesis.
Guangjie Liao, Jingqiu Yang, Xinke Zhang
doaj +1 more source
MMR markers correlate with clinical outcome in patients with esophageal squamous cell carcinoma
The International Journal of Biological Markers, 2023 Background The DNA mismatch repair system is one of the defense mechanisms in the body, and the inactivation of mismatch repair plays a pivotal role in secondary carcinogenesis and progression.
Takuro Yamauchi +12 more
doaj +1 more source
Annual Review of Biochemistry, 2005 ▪ Abstract DNA mismatch repair (MMR) is an evolutionarily conserved process that corrects mismatches generated during DNA replication and escape proofreading. MMR proteins also participate in many other DNA transactions, such that inactivation of MMR can have wide-ranging biological consequences, which can be either beneficial or detrimental.
Thomas A, Kunkel, Dorothy A, Erie
openaire +2 more sources
ATP-Dependent Mismatch Recognition in DNA Replication Mismatch Repair
Quantum Reports, 2023 Mismatch repair is a critical step in DNA replication that occurs after base selection and proofreading, significantly increasing fidelity. However, the mechanism of mismatch recognition has not been established for any repair enzyme.
Nianqin Zhang, Yongjun Zhang
doaj +1 more source
Expression of PD-L1 in Microsatellite Instability High Tumours: A Retrospective Study [PDF]
Journal of Clinical and Diagnostic Research, 2023 Introduction: Microsatellite Instability (MSI) is the hallmark of Lynch syndrome/Constitutional Mismatch Repair Deficiency (CMMRD) and is also found in many sporadic cancers like colorectal cancer, endometrial, gastric, small intestine, urothelial ...
Dinisha Einstien +5 more
doaj +1 more source
The rate of spontaneous mutations in yeast deficient for MutSβ function
G3: Genes, Genomes, Genetics, 2022 Mutations in simple sequence repeat loci underlie many inherited disorders in humans, and are increasingly recognized as important determinants of natural phenotypic variation.
Yevgeniy Plavskin +3 more
doaj +1 more source
Prime editing efficiency and fidelity are enhanced in the absence of mismatch repair
Nature Communications, 2022 Prime Editing is a versatile genome engineering tool. Here, the authors identify the DNA repair pathway known as mismatch repair as inhibitory for Prime Editing, thus, loss of mismatch repair enhances the efficiency of Prime Editing.
J. Ferreira da Silva +7 more
doaj +1 more source