Results 1 to 10 of about 811,508 (257)

Review of the application of dMMR and microsatellite instability in the diagnosis and treatment of endometrial cancer

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
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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
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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, Gayathri Devi Thanigaimani, KS Mouleeswaran, A Prathiba, G Sarumathy, John Vergilin   +5 more
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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, Fumiyoshi Fujishima, Junichi Tsunokake, Atsushi Kunimitsu, Ryujiro Akaishi, Yohei Ozawa, Toshiaki Fukutomi, Hiroshi Okamoto, Chiaki Sato, Yusuke Taniyama, Takashi Kamei, Ryo Ichinohasama, Hironobu Sasano   +12 more
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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, Maria Stella de Biase, Roland F Schwarz, Mark L Siegal   +3 more
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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, G. P. Oliveira, E. A. Arasa-Verge, C. Kagiou, A. Moretton, G. Timelthaler, J. Jiricny, J. I. Loizou   +7 more
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The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions

Cells, 2021
Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders.
Guy-Franck Richard
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Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation

Haematologica, 2010
Biallelic mutations of mismatch repair genes cause constitutional mismatch repair deficiency associated with an increased risk for childhood leukemia/lymphoma.
Tim Ripperger, Carmela Beger, Nils Rahner, Karl W. Sykora, Clemens L. Bockmeyer, Ulrich Lehmann, Hans H. Kreipe, Brigitte Schlegelberger   +7 more
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An Msh3 ATPase domain mutation has no effect on MMR function

BMC Research Notes, 2017
Objective To demonstrate that the Msh3 ATPase domain is required for DNA mismatch repair and tumor suppression in a murine model. Results The DNA mismatch repair proteins are members of the ABC family of ATPases.
Yasmin Edwards
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Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair

eLife, 2018
Tumors defective for DNA polymerase (Pol) ε proofreading have the highest tumor mutation burden identified. A major unanswered question is whether loss of Pol ε proofreading by itself is sufficient to drive this mutagenesis, or whether additional factors
Karl P Hodel, Richard de Borja, Erin E Henninger, Brittany B Campbell, Nathan Ungerleider, Nicholas Light, Tong Wu, Kimberly G LeCompte, A Yasemin Goksenin, Bruce A Bunnell, Uri Tabori, Adam Shlien, Zachary F Pursell   +12 more
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