Results 1 to 10 of about 44,743 (233)

Mlh2 is an accessory factor for DNA mismatch repair in Saccharomyces cerevisiae. [PDF]

PLoS Genetics, 2014
In Saccharomyces cerevisiae, the essential mismatch repair (MMR) endonuclease Mlh1-Pms1 forms foci promoted by Msh2-Msh6 or Msh2-Msh3 in response to mispaired bases. Here we analyzed the Mlh1-Mlh2 complex, whose role in MMR has been unclear.
Christopher S Campbell, Hans Hombauer, Anjana Srivatsan, Nikki Bowen, Kerstin Gries, Arshad Desai, Christopher D Putnam, Richard D Kolodner   +7 more
doaj   +11 more sources

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia. [PDF]

PLoS ONE, 2014
BackgroundFriedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression.
Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook   +5 more
doaj   +3 more sources

Aberrant cytoplasmic localization of MLH1 characterizes a cell population that seeds breast cancer recurrence [PDF]

Nature Communications
Estrogen receptor-positive breast cancer remains a leading cause of cancer-related death in women, with mortality largely driven by late recurrence of treatment-resistant disease.
Aloran Mazumder, Jerry Dewitt, Elena Oropeza, Nindo Punturi, Daniel Lozano, Megha Raghunathan, Jonathan Piscitelli, Elham Sajjadi, Elena GueriniRocco, Konstantinos Venetis, Mariia Ivanova, Eltjona Mane, Marianna Dercole, Alberto Concardi, Nicola Fusco, Carol Manhart, Matthew Bainbridge, Svasti Haricharan   +17 more
doaj   +2 more sources

Integrative proteomics reveals mitochondrial and immune signatures of MLH1 exon 13 deletion in Lynch syndrome–associated colorectal cancer [PDF]

Frontiers in Molecular Biosciences
BackgroundLynch syndrome is an inherited cancer predisposition caused by pathogenic variants in mismatch repair (MMR) genes. Large genomic rearrangements (LGRs) in MLH1 are often underestimated due to detection challenges. Functional analyses of specific
Chen Chang, Yue Cao, Bin Zhang, Jingli Chen, Lin Chen, Wensheng Li, Guorong Wang   +6 more
doaj   +2 more sources

Hesperetin effect on MLH1 and MSH2 expression on breast cancer cells BT-549

Journal of Advanced Pharmaceutical Technology & Research, 2023
Due to its genetic and phenotypic heterogeneity, breast cancer is very difficult to eliminate. The harmful consequences of conventional therapies like radiation and chemotherapy have prompted the search for organic-based alternatives. Hesperetin (HSP), a
Assim Khattab Hasan, Esmaeil Babaei, Ahmed Salim Kadhim Al-Khafaji   +2 more
doaj   +1 more source

Hereditary ovarian cancer

Сибирский онкологический журнал, 2022
Background. Hereditary genetic mutations are a significant risk factor for malignant transformation of cells and cancer development. Hereditary genetic mutations account for 15 to 25 % of all ovarian carcinomas. Purpose of the study: to summarize data on
Kh. B. Kotiv, T. V. Gorodnova, A. P. Sokolenko, I. V. Berlev, E. N. Imyanitov   +4 more
doaj   +1 more source

Relationship between the expression of mismatch repair proteins and colorectal cancer with mesenteric tumor deposit

Zhongguo linchuang yanjiu, 2023
Objective To investigate the clinicopathological significance of colorectal cancer with mesenteric tumor deposit(TD) and the relationship with DNA mismatch repair(MMR) protein expression.
HUANG Ke-qiang, TANG Hua, HUANG Qiu-xia, OU Hai-ling
doaj   +1 more source

Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers

Clinical Epigenetics, 2023
Background MLH1 epimutation is characterised by constitutional monoallelic MLH1 promoter hypermethylation, which can cause colorectal cancer (CRC). Tumour molecular profiles of MLH1 epimutation CRCs were used to classify germline MLH1 promoter variants ...
Jihoon E. Joo, Khalid Mahmood, Romy Walker, Peter Georgeson, Ida Candiloro, Mark Clendenning, Julia Como, Sharelle Joseland, Susan Preston, Lise Graversen, Mathilda Wilding, Michael Field, Michelle Lemon, Janette Wakeling, Helen Marfan, Rachel Susman, Joanne Isbister, Emma Edwards, Michelle Bowman, Judy Kirk, Emilia Ip, Lynne McKay, Yoland Antill, John L. Hopper, Alex Boussioutas, Finlay A. Macrae, Alexander Dobrovic, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan   +30 more
doaj   +1 more source

MLH1 mediates cytoprotective nucleophagy to resist 5-Fluorouracil-induced cell death in colorectal carcinoma

Neoplasia: An International Journal for Oncology Research, 2022
Colorectal Cancer (CRC) with Microsatellite instability (MSI) and mutLhomolog-1 (MLH1) gene deficiency are less aggressive than MLH1 proficient cancers.
Shaista Manzoor, Maha Saber-Ayad, Azzam A. Maghazachi, Qutayba Hamid, Jibran Sualeh Muhammad   +4 more
doaj   +1 more source

Two distinct deleterious causative variants in a family with multiple cancer-affected patients

Advanced Biomedical Research, 2023
Background: Only 5 to 10% of cancers are hereditary, but they are particularly important since they can be passed down from generation to generation, and family members are at elevated risk.
Erfan Khorram, Mohammad A Tabatabaiefar, Mehrdad Zeinalian   +2 more
doaj   +1 more source