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1,067 results

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Page 1

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.

Mahdouani M, Ben Ahmed S, Hmila F, Rais H, Ben Sghaier R, Saad H, Ben Said M, Masmoudi S, Hmida D, Brieger A, Zeuzem S, Saad A, Gribaa M, Plotz G. Mahdouani M, et al. PLoS One. 2022 Dec 1;17(12):e0278283. doi: 10.1371/journal.pone.0278283. eCollection 2022. PLoS One. 2022. PMID: 36454741 Free PMC article.

A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.

Rath A, Radecki AA, Rahman K, Gilmore RB, Hudson JR, Cenci M, Tavtigian SV, Grady JP, Heinen CD. Rath A, et al. Hum Mutat. 2022 Dec;43(12):2295-2307. doi: 10.1002/humu.24462. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36054288

Microsatellite Instability-High Endometrial Cancers with MLH1 Promoter Hypermethylation Have Distinct Molecular and Clinical Profiles.

Manning-Geist BL, Liu YL, Devereaux KA, Paula ADC, Zhou QC, Ma W, Selenica P, Ceyhan-Birsoy O, Moukarzel LA, Hoang T, Gordhandas S, Rubinstein MM, Friedman CF, Aghajanian C, Abu-Rustum NR, Stadler ZK, Reis-Filho JS, Iasonos A, Zamarin D, Ellenson LH, Lakhman Y, Mandelker DL, Weigelt B. Manning-Geist BL, et al. Clin Cancer Res. 2022 Oct 3;28(19):4302-4311. doi: 10.1158/1078-0432.CCR-22-0713. Clin Cancer Res. 2022. PMID: 35849120

Targeting mitochondrial DNA polymerase gamma for selective inhibition of MLH1 deficient colon cancer growth.

Somuncu B, Ekmekcioglu A, Antmen FM, Ertuzun T, Deniz E, Keskin N, Park J, Yazici IE, Simsek B, Erman B, Yin W, Erman B, Muftuoglu M. Somuncu B, et al. PLoS One. 2022 Jun 3;17(6):e0268391. doi: 10.1371/journal.pone.0268391. eCollection 2022. PLoS One. 2022. PMID: 35657956 Free PMC article.

High frequency of MLH1 promoter methylation mediated by gender and age in colorectal tumors from Mexican patients.

Moreno-Ortiz JM, Jiménez-García J, Gutiérrez-Angulo M, Ayala-Madrigal ML, González-Mercado A, González-Villaseñor CO, Flores-López BA, Alvizo-Rodríguez C, Hernández-Sandoval JA, Fernández-Galindo MA, Maciel-Gutiérrez V, Ramírez-Plascencia H, Ramírez-Ramírez R. Moreno-Ortiz JM, et al. Gac Med Mex. 2021;157(6):618-623. doi: 10.24875/GMM.M21000626. Gac Med Mex. 2021. PMID: 35108246 Free article. English.

Haploinsufficiency by minute MutL homolog 1 promoter DNA methylation may represent unique phenotypes of microsatellite instability-gastric carcinogenesis.

Harada H, Nie Y, Araki I, Soeno T, Chuman M, Washio M, Sakuraya M, Ushiku H, Niihara M, Hosoda K, Kumamoto Y, Naitoh T, Sangai T, Hiki N, Yamashita K. Harada H, et al. PLoS One. 2021 Dec 22;16(12):e0260303. doi: 10.1371/journal.pone.0260303. eCollection 2021. PLoS One. 2021. PMID: 34936649 Free PMC article.

The Correlation of Histopathologic Parameters With Mismatch Repair Protein-deficient Subgroups and MLH1 Methylation in Endometrial Carcinomas.

Soylemez T, Kir G, Olgun ZC, Dur SR, Tosun MI, Ankarali H, Demircan B, Kaya IA, Karateke A. Soylemez T, et al. Int J Gynecol Pathol. 2022 Sep 1;41(5):484-495. doi: 10.1097/PGP.0000000000000831. Epub 2021 Oct 29. Int J Gynecol Pathol. 2022. PMID: 34723847

Molecular Analysis of an Intestinal Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) Reveals MLH1 Methylation-driven Microsatellite Instability and a Monoclonal Origin: Diagnostic and Clinical Implications.

Sciammarella C, Bencivenga M, Mafficini A, Piredda ML, Tsvetkova V, Paolino G, Mastrosimini MG, Hetoja S, de Manzoni G, Mattiolo P, Borga C, Fassan M, Scarpa A, Luchini C, Lawlor RT. Sciammarella C, et al. Appl Immunohistochem Mol Morphol. 2022 Feb 1;30(2):145-152. doi: 10.1097/PAI.0000000000000969. Appl Immunohistochem Mol Morphol. 2022. PMID: 34483242

MLH1 promoter hypermethylation predicts poorer prognosis in mismatch repair deficiency endometrial carcinomas.

Kaneko E, Sato N, Sugawara T, Noto A, Takahashi K, Makino K, Terada Y. Kaneko E, et al. J Gynecol Oncol. 2021 Nov;32(6):e79. doi: 10.3802/jgo.2021.32.e79. Epub 2021 Aug 4. J Gynecol Oncol. 2021. PMID: 34431253 Free PMC article.

Comprehensive Clinicopathologic Analysis for Mismatch Repair Protein Expression in Unselected Endometrial Carcinoma Patients With an Emphasis on the Role of MLH1 Deficiency.

Huang SW, Lin H, Huang CC, Ou YC, Fu HC, Tsai CC, Changchien CC, Wu CH. Huang SW, et al. Int J Gynecol Pathol. 2022 Jul 1;41(4):407-416. doi: 10.1097/PGP.0000000000000808. Epub 2021 Aug 4. Int J Gynecol Pathol. 2022. PMID: 34347667