Results 1 to 10 of about 42,200 (256)

Identification of the Oncogenic Role of MSH2 in the Stemness and Progression of Glioma Through Regulating Wnt Signaling Pathway [PDF]

Cancer Medicine
Background Glioma is one of the most aggressive brain tumors, and its progression is often associated with stemness maintenance and therapy resistance. The role of MSH2 in glioma remains largely unclear.
Jun Liu, Jiayu Chen, Lianglei Jiang
doaj   +4 more sources

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   +5 more sources

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model [PDF]

Neurobiology of Disease, 2012
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a dynamic GAA repeat expansion mutation within intron 1 of the FXN gene.
Vahid Ezzatizadeh, Ricardo Mouro Pinto, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Hein te Riele, Mark A. Pook   +6 more
doaj   +2 more sources

Parameters of Reserpine Analogs That Induce MSH2/MSH6-Dependent Cytotoxic Response [PDF]

Journal of Nucleic Acids, 2010
Mismatch repair proteins modulate the cytotoxicity of several chemotherapeutic agents. We have recently proposed a “death conformation” of the MutS homologous proteins that is distinguishable from their “repair conformation.” This conformation can be ...
Aksana Vasilyeva, Jill E. Clodfelter, Michael J. Gorczynski, Anthony R. Gerardi, S. Bruce King, Freddie Salsbury, Karin D. Scarpinato   +6 more
doaj   +2 more sources

The decrease in Rad51 and DNA ligase IV nuclear protein expression in Msh2 knockdown HC11 cells induced the low CRISPR/Cas9-mediated knock-in efficiency at the β-casein gene locus [PDF]

Animal Bioscience
Objective Successful gene editing technology is crucial in molecular biology and related fields. An essential part of an efficient knock-in system is increasing homologous recombination (HR) efficiency in the double-strand break (DSB) repair pathways ...
Ga-Yeon Kim, Man-Jong Kang
doaj   +3 more sources

Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients [PDF]

Hereditary Cancer in Clinical Practice
Background Colorectal cancer (CRC) is the fourth most common cancer in Pakistan and poses significant public health challenges. While the majority of CRC cases are sporadic, ~ 5–10% are hereditary, linked to germline pathogenic variants (PVs) in mismatch
Humaira Naeemi, Noor Muhammad, Asif Loya, Muhammed Aasim Yusuf, Muhammad Usman Rashid   +4 more
doaj   +2 more sources

A rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review [PDF]

Frontiers in Genetics
BackgroundLynch syndrome (LS) is an autosomal dominant disorder caused by germline mutations in mismatch repair (MMR) genes or EpCAM, leading to various cancers, particularly colorectal cancer (CRC).
Guiyu Lu, Guiyu Lu, Ting Pan, Cuidong Deng, Xiaoqian Wan, Zihan Wang, Tengyue Hu, Xianshuo Cheng, Jian Dong   +8 more
doaj   +2 more sources

Molecular analysis of three DNA mismatch repair protein variants in Chinese families with suspected Lynch syndrome [PDF]

Frontiers in Medicine
PurposeThis study aimed to examine pathogenic variations in three families clinically diagnosed with suspected Lynch syndrome (LS).MethodsThree probands clinically diagnosed suspected LS were subjected to immunohistochemical analysis of DNA mismatch ...
Juyi Li, Haichun Ni, Peng Cheng, Yujia Peng, Lei Liu, Xiangyang Wang, Wei Cheng, Hengfei Li, Xiufang Wang, Hongfeng Zhang, Jifa Hu, Aiping Deng, Wei Cai, Wei Cai   +13 more
doaj   +2 more sources

The Intersection of Lynch Syndrome and Hematological Malignancies: A Rare Short Report [PDF]

eJHaem
Lynch syndrome (LS), which is an autosomal dominant disorder caused primarily by germline pathogenic variants of mismatch repair (MMR) genes, cases a number of malignancies. Hematologic malignancies are not included as related tumors of LS because it has
Tomomi Oka, Takeshi Nakajima, Makoto Iwasaki, June Takeda, Masako Torishima, Maki Sakurada, Takuya Shimizu, Takero Shindo, Masakazu Fujimoto, Shinya Otsuki, Hironori Haga, Kokichi Sugano, Miho Ando, Chisaki Mizumoto, Junya Kanda, Yasuhito Nannya, Seishi Ogawa, Akifumi Takaori‐Kondo, Shinji Kosugi   +18 more
doaj   +2 more sources

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues [PDF]

, 2012
Copyright @ 2012 Bourn et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Chiranjeevi Sandi, David T. Kirkpatrick, Irene De Biase, Mark A. Pook, Rebecka L. Bourn, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Sanjay I. Bidichandani   +7 more
core   +15 more sources