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1,011 results

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Page 1

MLH1 single-nucleotide variant in circulating tumor DNA predicts overall survival of patients with hepatocellular carcinoma.

Kim SS, Eun JW, Choi JH, Woo HG, Cho HJ, Ahn HR, Suh CW, Baek GO, Cho SW, Cheong JY. Kim SS, et al. Sci Rep. 2020 Oct 20;10(1):17862. doi: 10.1038/s41598-020-74494-y. Sci Rep. 2020. PMID: 33082400 Free PMC article.

An Analysis of Clinical, Surgical, Pathological and Molecular Characteristics of Endometrial Cancer According to Mismatch Repair Status. A Multidisciplinary Approach.

Dondi G, Coluccelli S, De Leo A, Ferrari S, Gruppioni E, Bovicelli A, Godino L, Coadă CA, Morganti AG, Giordano A, Santini D, Ceccarelli C, Turchetti D, De Iaco P, Perrone AM. Dondi G, et al. Int J Mol Sci. 2020 Sep 29;21(19):7188. doi: 10.3390/ijms21197188. Int J Mol Sci. 2020. PMID: 33003368 Free PMC article.

Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees.

Li F, Xia Y, Wang G, Tang C, Zhan T, Shen J, Zhang J. Li F, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1295. doi: 10.1002/mgg3.1295. Epub 2020 Jun 3. Mol Genet Genomic Med. 2020. PMID: 32490589 Free PMC article.

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.

Piñero TA, Soukarieh O, Rolain M, Alvarez K, López-Köstner F, Torrezan GT, Carraro DM, De Oliveira Nascimento IL, Bomfim TF, Machado-Lopes TMB, Freitas JC, Toralles MB, Sandes KA, Rossi BM, Junior SA, Meira J, Dominguez-Valentin M, Møller P, Vaccaro CA, Martins A, Pavicic WH. Piñero TA, et al. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481

Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family.

Yang C, Sheehan M, Borras E, Cadoo K, Offit K, Zhang L. Yang C, et al. Fam Cancer. 2020 Oct;19(4):315-322. doi: 10.1007/s10689-020-00180-7. Fam Cancer. 2020. PMID: 32356167

Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree.

Zaib T, Zhang C, Saleem K, Xu L, Qin Q, Wang Y, Ji W, Khan H, Yu H, Zhu S, Gao W, Huang Y, Jia X, Wu J, Song H, Zhang Y, Sun W, Fu S. Zaib T, et al. Dis Markers. 2020 Jan 29;2020:8360841. doi: 10.1155/2020/8360841. eCollection 2020. Dis Markers. 2020. PMID: 32076465 Free PMC article.

Reliable Clinical MLH1 Promoter Hypermethylation Assessment Using a High-Throughput Genome-Wide Methylation Array Platform.

Benhamida JK, Hechtman JF, Nafa K, Villafania L, Sadowska J, Wang J, Wong D, Zehir A, Zhang L, Bale T, Arcila ME, Ladanyi M. Benhamida JK, et al. J Mol Diagn. 2020 Mar;22(3):368-375. doi: 10.1016/j.jmoldx.2019.11.005. Epub 2019 Dec 24. J Mol Diagn. 2020. PMID: 31881335 Free PMC article.

Correlation of MLH1 polymorphisms, survival statistics, in silico assessment and gene downregulation with clinical outcomes among breast cancer cases.

Malik SS, Zia A, Mubarik S, Masood N, Rashid S, Sherrard A, Khan MB, Khadim MT. Malik SS, et al. Mol Biol Rep. 2020 Jan;47(1):683-692. doi: 10.1007/s11033-019-05175-x. Epub 2019 Nov 8. Mol Biol Rep. 2020. PMID: 31701475

Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Abildgaard AB, Stein A, Nielsen SV, Schultz-Knudsen K, Papaleo E, Shrikhande A, Hoffmann ER, Bernstein I, Gerdes AM, Takahashi M, Ishioka C, Lindorff-Larsen K, Hartmann-Petersen R. Abildgaard AB, et al. Elife. 2019 Nov 7;8:e49138. doi: 10.7554/eLife.49138. Elife. 2019. PMID: 31697235 Free PMC article.

MLH1 deficiency leads to deregulated mitochondrial metabolism.

Rashid S, Freitas MO, Cucchi D, Bridge G, Yao Z, Gay L, Williams M, Wang J, Suraweera N, Silver A, McDonald SAC, Chelala C, Szabadkai G, Martin SA. Rashid S, et al. Cell Death Dis. 2019 Oct 22;10(11):795. doi: 10.1038/s41419-019-2018-y. Cell Death Dis. 2019. PMID: 31641109 Free PMC article.