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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.

Elife. 2019 Nov 7;8. pii: e49138. doi: 10.7554/eLife.49138.


MLH1 Is a Prognostic Biomarker for Serous Ovarian Cancer Treated With Platinum- and Taxane-based Chemotherapy.

Kawashima N, Yoshida H, Miwa M, Fujiwara K.

Anticancer Res. 2019 Oct;39(10):5505-5513. doi: 10.21873/anticanres.13743.


Loss of expression of MLH1 in non-dysplastic crypts is a harbinger of neoplastic progression in sessile serrated adenomas/polyps.

Yozu M, Kem M, Cenaj O, Mino-Kenudson M, Odze RD, Misdraji J.

Histopathology. 2019 Sep;75(3):376-384. doi: 10.1111/his.13874. Epub 2019 Jul 2.


A novel frameshift mutation in the MLH1 gene in a patient with Lynch syndrome.

Pandey AS, Shrestha S.

Indian J Cancer. 2018 Oct-Dec;55(4):410-412. doi: 10.4103/ijc.IJC_349_18.


A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study.

Sui QQ, Jiang W, Wu XD, Ling YH, Pan ZZ, Ding PR.

J Zhejiang Univ Sci B. 2019 Jan.;20(1):105-108. doi: 10.1631/jzus.B1800105.


MLH1 enhances the sensitivity of human endometrial carcinoma cells to cisplatin by activating the MLH1/c-Abl apoptosis signaling pathway.

Li Y, Zhang S, Wang Y, Peng J, Fang F, Yang X.

BMC Cancer. 2018 Dec 29;18(1):1294. doi: 10.1186/s12885-018-5218-4.


A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.

Zhang Y, Chen H, Peng Z, Banerjee S, Li W, Zhao Z, Sun J, Lv J, Huang H, Bai R, Lin K, Li Z.

Biomed Res Int. 2018 Nov 14;2018:1460835. doi: 10.1155/2018/1460835. eCollection 2018.


Relevance of hMLH1 -93G>A, 655A>G and 1151T>A polymorphisms with colorectal cancer susceptibility: a meta-analysis based on 38 case-control studies.

Zare M, Jafari-Nedooshan J, Jafari M, Neamatzadeh H, Abolbaghaei SM, Foroughi E, Nasiri R, Zare-Shehneh M.

Rev Assoc Med Bras (1992). 2018 Oct;64(10):942-951. doi: 10.1590/1806-9282.64.10.942.


Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation.

Moufid FZ, Bouguenouch L, El Bouchikhi I, Houssaini MI, Ouldim K.

Turk J Gastroenterol. 2018 Nov;29(6):701-704. doi: 10.5152/tjg.2018.17761.


Primary constitutional MLH1 epimutations: a focal epigenetic event.

Dámaso E, Castillejo A, Arias MDM, Canet-Hermida J, Navarro M, Del Valle J, Campos O, Fernández A, Marín F, Turchetti D, García-Díaz JD, Lázaro C, Genuardi M, Rueda D, Alonso Á, Soto JL, Hitchins M, Pineda M, Capellá G.

Br J Cancer. 2018 Oct;119(8):978-987. doi: 10.1038/s41416-018-0019-8. Epub 2018 Oct 4.


DNA mismatch repair activity of MutLα is regulated by CK2-dependent phosphorylation of MLH1 (S477).

Weßbecher IM, Hinrichsen I, Funke S, Oellerich T, Plotz G, Zeuzem S, Grus FH, Biondi RM, Brieger A.

Mol Carcinog. 2018 Dec;57(12):1723-1734. doi: 10.1002/mc.22892. Epub 2018 Sep 5.


Promoter methylation of human mutL homolog 1 and colorectal cancer risk: A meta-analysis.

Shi B, Chu J, Gao Q, Tian T.

J Cancer Res Ther. 2018;14(4):851-855. doi: 10.4103/0973-1482.172587.


A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Jia S, Zhang M, Sun Y, Yan H, Zhao F, Li Z, Ji J.

BMC Med Genet. 2018 Jun 22;19(1):106. doi: 10.1186/s12881-018-0605-x.


Identification of a mutL‑homolog 1 mutation via whole‑exome sequencing in a Chinese family with Gardner syndrome.

Lv Z, Wang C, Wu L, Guo B, Zhang D, Zhang Y, Huang S, Ou M.

Mol Med Rep. 2018 Jul;18(1):987-992. doi: 10.3892/mmr.2018.9063. Epub 2018 May 23.


Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP.

Genet Med. 2018 Dec;20(12):1589-1599. doi: 10.1038/gim.2018.47. Epub 2018 Apr 12.


Uterine endometrial carcinoma with DNA mismatch repair deficiency: magnetic resonance imaging findings and clinical features.

Minamiguchi K, Takahama J, Uchiyama T, Taiji R, Saito N, Okada H, Marugami N, Tanase Y, Kawaguchi R, Ohbayashi C, Kobayashi H, Hirai T, Kichikawa K.

Jpn J Radiol. 2018 Jul;36(7):429-436. doi: 10.1007/s11604-018-0741-4. Epub 2018 May 4.


The MLH1 ATPase domain is needed for suppressing aberrant formation of interstitial telomeric sequences.

Jia P, Chai W.

DNA Repair (Amst). 2018 May;65:20-25. doi: 10.1016/j.dnarep.2018.03.002. Epub 2018 Mar 7.


Evaluation of MLH1 variants of unclear significance.

Köger N, Paulsen L, López-Kostner F, Della Valle A, Vaccaro CA, Palmero EI, Alvarez K, Sarroca C, Neffa F, Kalfayan PG, Gonzalez ML, Rossi BM, Reis RM, Brieger A, Zeuzem S, Hinrichsen I, Dominguez-Valentin M, Plotz G.

Genes Chromosomes Cancer. 2018 Jul;57(7):350-358. doi: 10.1002/gcc.22536. Epub 2018 Apr 30.


Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.

Morak M, Ibisler A, Keller G, Jessen E, Laner A, Gonzales-Fassrainer D, Locher M, Massdorf T, Nissen AM, Benet-Pagès A, Holinski-Feder E.

J Med Genet. 2018 Apr;55(4):240-248. doi: 10.1136/jmedgenet-2017-104744. Epub 2018 Feb 22.


Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation.

Pinto D, Pinto C, Guerra J, Pinheiro M, Santos R, Vedeld HM, Yohannes Z, Peixoto A, Santos C, Pinto P, Lopes P, Lothe R, Lind GE, Henrique R, Teixeira MR.

Cancer Med. 2018 Feb;7(2):433-444. doi: 10.1002/cam4.1285. Epub 2018 Jan 17.

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