PMC Links for Gene (Select 4292) - PMC

Masanao Kaneko, Mitsuko Nakashima, Kiichi Sugiura, Natsuki Ishida, Satoshi Tamura, Shinya Tani, Mihoko Yamade, Yasushi Hamaya, Satoshi Osawa, Kyota Tatsuta, Kiyotaka Kurachi, Satoshi Baba, Yuji Iwashita, Tomio Arai, Haruhiko Sugimura, Masato Maekawa, Ken Sugimoto, Moriya Iwaizumi

Medicine (Baltimore) 2023 Sep 22; 102(38): e35022. Published online 2023 Sep 22. doi: 10.1097/MD.0000000000035022

PMCID:: PMC10519469

Abstract Article PDF–708K

Select item 105088884.

Prevalence of Somatic MutL Homolog 1 Promoter Hypermethylation in Lynch Syndrome Colorectal Cancer

Leticia Moreira, Jenifer Muñoz, Míriam Cuatrecasas, Isabel Quintanilla, Maria Liz Leoz, Sabela Carballal, Teresa Ocaña, María López-Cerón, Maria Pellise, Sergi Castellví-Bel, Rodrigo Jover, Montserrat Andreu, Angel Carracedo, Rosa Maria Xicola, Xavier Llor, Clement Richard Boland, Ajay Goel, Antoni Castells, Francesc Balaguer, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association

Cancer. Author manuscript; available in PMC 2023 Sep 19.

Published in final edited form as: Cancer. 2015 May 1; 121(9): 1395–1404. Published online 2014 Dec 29. doi: 10.1002/cncr.29190

PMCID:: PMC10508888

Abstract Article PDF–418K

Select item 103973445.

Key role of phosphorylation sites in ATPase domain and Linker region of MLH1 for DNA binding and functionality of MutLα

May-Britt Firnau, Guido Plotz, Stefan Zeuzem, Angela Brieger

Sci Rep. 2023; 13: 12503. Published online 2023 Aug 2. doi: 10.1038/s41598-023-39750-x

PMCID:: PMC10397344

Abstract Article PDF–1.7M

Select item 103259006.

A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation

Karla Wolf, Jan Kosinski, Toby J Gibson, Nicole Wesch, Volker Dötsch, Maurizio Genuardi, Emanuela Lucci Cordisco, Stefan Zeuzem, Angela Brieger, Guido Plotz

Nucleic Acids Res. 2023 Jul 7; 51(12): 6307–6320. Published online 2023 May 24. doi: 10.1093/nar/gkad418

PMCID:: PMC10325900

Abstract Article PDF–1.7M

Select item 103095707.

MLH1 Loss in Primary Prostate Cancer

Sanaz Nourmohammadi Abadchi, Laura A. Sena, Emmanuel S. Antonarakis, Colin C. Pritchard, James R. Eshleman, Eric Q. Konnick, Stephen J. Salipante, Eugene Shenderov, Tamara L. Lotan

JCO Precis Oncol. 2023; 7: e2200611. Published online 2023 May 17. doi: 10.1200/PO.22.00611

PMCID:: PMC10309570

Abstract Article PDF–899K

Select item 97721418.

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

Abhijit Rath, Alexander A. Radecki, Kaussar Rahman, Rachel B. Gilmore, Jonathan R. Hudson, Matthew Cenci, Sean V. Tavtigian, James P. Grady, Christopher D. Heinen

Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 2295–2307. Published online 2022 Sep 12. doi: 10.1002/humu.24462

PMCID:: PMC9772141

Abstract Article PDF–848K

Select item 97147559.

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

Marwa Mahdouani, Slim Ben Ahmed, Fahmi Hmila, Henda Rais, Rihab Ben Sghaier, Hanene Saad, Mariem Ben Said, Saber Masmoudi, Dorra Hmida, Angela Brieger, Stefan Zeuzem, Ali Saad, Moez Gribaa, Guido Plotz

PLoS One. 2022; 17(12): e0278283. Published online 2022 Dec 1. doi: 10.1371/journal.pone.0278283

PMCID:: PMC9714755

Abstract Article PDF–1.5M

Select item 952995410.

Microsatellite instability-high endometrial cancers with MLH1 promoter hypermethylation have distinct molecular and clinical profiles

Beryl L. Manning-Geist, Ying L. Liu, Kelly A. Devereaux, Arnaud Da Cruz Paula, Qin C. Zhou, Weining Ma, Pier Selenica, Ozge Ceyhan-Birsoy, Lea A. Moukarzel, Timothy Hoang, Sushmita Gordhandas, Maria M. Rubinstein, Claire F. Friedman, Carol Aghajanian, Nadeem R. Abu-Rustum, Zsofia K. Stadler, Jorge S. Reis-Filho, Alexia Iasonos, Dmitriy Zamarin, Lora H Ellenson, Yulia Lakhman, Diana L. Mandelker, Britta Weigelt

Clin Cancer Res. Author manuscript; available in PMC 2023 Apr 3.

Published in final edited form as: Clin Cancer Res. 2022 Oct 3; 28(19): 4302–4311. doi: 10.1158/1078-0432.CCR-22-0713

PMCID:: PMC9529954

Abstract Article PDF–730K

Select item 916588011.

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

Berna Somuncu, Aysegul Ekmekcioglu, Fatma Merve Antmen, Tugce Ertuzun, Emre Deniz, Nazli Keskin, Joon Park, Ilgu Ece Yazici, Busra Simsek, Batu Erman, Whitney Yin, Burak Erman, Meltem Muftuoglu

PLoS One. 2022; 17(6): e0268391. Published online 2022 Jun 3. doi: 10.1371/journal.pone.0268391

PMCID:: PMC9165880

Abstract Article PDF–2.8M

Select item 869441812.

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

Hiroki Harada, Yusuke Nie, Ippeita Araki, Takafumi Soeno, Motohiro Chuman, Marie Washio, Mikiko Sakuraya, Hideki Ushiku, Masahiro Niihara, Kei Hosoda, Yusuke Kumamoto, Takeshi Naitoh, Takafumi Sangai, Naoki Hiki, Keishi Yamashita

PLoS One. 2021; 16(12): e0260303. Published online 2021 Dec 22. doi: 10.1371/journal.pone.0260303

PMCID:: PMC8694418

Abstract Article PDF–2.4M

Select item 866600613.

MLH1 Deficiency-Triggered DNA Hyper-Excision by Exonuclease 1 Activates the cGAS-STING Pathway

Junhong Guan, Changzheng Lu, Qihuang Jin, Huiming Lu, Xiang Chen, Lei Tian, Yanbin Zhang, Janice Ortega, Junqiu Zhang, Silvia Siteni, Mingyi Chen, Liya Gu, Jerry W. Shay, Anthony J. Davis, Zhijian J. Chen, Yang-Xin Fu, Guo-Min Li

Cancer Cell. Author manuscript; available in PMC 2022 Jan 11.

Published in final edited form as: Cancer Cell. 2021 Jan 11; 39(1): 109–121.e5. Published online 2020 Dec 17. doi: 10.1016/j.ccell.2020.11.004

PMCID:: PMC8666006

Abstract Article PDF–2.8M

Select item 855093214.

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

Enami Kaneko, Naoki Sato, Tae Sugawara, Aya Noto, Kazue Takahashi, Kenichi Makino, Yukihiro Terada

J Gynecol Oncol. 2021 Nov; 32(6): e79. Published online 2021 Aug 4. doi: 10.3802/jgo.2021.32.e79

PMCID:: PMC8550932

Abstract Article PDF–3.6M

Select item 789795615.

Mismatch repair protein and MLH1 methylation status as predictors of response to adjuvant therapy in endometrial cancer

Mikko Loukovaara, Annukka Pasanen, Ralf Bützow

Cancer Med. 2021 Feb; 10(3): 1034–1042. Published online 2021 Jan 15. doi: 10.1002/cam4.3691

PMCID:: PMC7897956

Abstract Article PDF–307K

Select item 781444416.

A rare large duplication of MLH1 identified in Lynch syndrome

Abhishek Kumar, Nagarajan Paramasivam, Obul Reddy Bandapalli, Matthias Schlesner, Tianhui Chen, Rolf Sijmons, Dagmara Dymerska, Katarzyna Golebiewska, Magdalena Kuswik, Jan Lubinski, Kari Hemminki, Asta Försti

Hered Cancer Clin Pract. 2021; 19: 10. Published online 2021 Jan 19. doi: 10.1186/s13053-021-00167-0

PMCID:: PMC7814444

Abstract Article PDF–821K

Select item 772909517.

Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome

Hamid Ghaedi, Samira Molaei Ramsheh, Maryam Erfanian Omidvar, Afsaneh Labbaf, Elham Alehabib, Sanaz Akbari, Fatemeh Pourfatemi, Hossein Darvish

Genes Dis. 2020 Dec; 7(4): 614–619. Published online 2019 Jul 27. doi: 10.1016/j.gendis.2019.07.011

PMCID:: PMC7729095

Abstract Article PDF–1.6M

Select item 758289318.

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

Giulia Dondi, Sara Coluccelli, Antonio De Leo, Simona Ferrari, Elisa Gruppioni, Alessandro Bovicelli, Lea Godino, Camelia Alexandra Coadă, Alessio Giuseppe Morganti, Antonio Giordano, Donatella Santini, Claudio Ceccarelli, Daniela Turchetti, Pierandrea De Iaco, Anna Myriam Perrone

Int J Mol Sci. 2020 Oct; 21(19): 7188. Published online 2020 Sep 29. doi: 10.3390/ijms21197188