Results 11 to 20 of about 26,541 (200)

A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review

Frontiers in Genetics
BackgroundLynch syndrome (LS) is an autosomal dominant inherited disorder caused by mutations in mismatch repair genes. Genetic counseling is crucial for the prevention and treatment of LS, as individuals with these mutations have an increased lifetime ...
Lan Zhong, Lan Zhong, Wenxiang Wang, Wenxiang Wang, Wenxiang Wang, Yuanqiong Duan, Yuanqiong Duan, Liang Song, Liang Song, Zhanghuan Li, Kaixuan Yang, Qintong Li, Rutie Yin, Rutie Yin   +13 more
doaj   +2 more sources

Potential Influence of Age and Diabetes Mellitus Type 1 on MSH2 (MutS homolog 2) Expression in a Rat Kidney Tissue

Genes, 2022
Background: Homeostasis of proliferating tissues is strongly dependent on intact DNA. Both neoplastic and non-neoplastic diseases have been associated with MSH2 (MutS homolog 2, a mismatch repair protein) deficiency.
Paško Babić, N. Filipović, L. Hamzić, Livia Puljak, K. Vukojević, Benjamin Benzon   +5 more
semanticscholar   +1 more source

Drug Resistance of CPT-11 in Human DLD-1 Colorectal Cancer Cells through MutS Homolog 2 Upregulation

International Journal of Medical Sciences, 2021
Colorectal cancers (CRCs) is the most commonly diagnosed and deadly cancer types in the world. Despite advances in chemotherapy for CRCs, drug resistance remains a major challenge to high incurable and eventually deadly rates for patients.
Ko-Chao Lee, Chia-Kung Yen, Cheng-Nan Chen, Shun-Fu Chang, Ying-Chen Lu, Wen-Shih Huang   +5 more
semanticscholar   +1 more source

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   +9 more sources

The CtIP-CtBP1/2-HDAC1-AP1 transcriptional complex is required for the transrepression of DNA damage modulators in the pathogenesis of osteosarcoma

Translational Oncology, 2022
Most tumors, including osteosarcomas, have deficiencies in DNA damage repair. However, the regulatory mechanisms underlying dysregulation of DNA damage repair genes are still being investigated.
Xun Chen, Qian Zhang, Xiaoqian Dang, Jinzhu Fan, Tao Song, Zhong Li, Ning Duan, Wentao Zhang   +7 more
doaj   +1 more source

RNA-binding protein with serine-rich domain 1 regulates microsatellite instability of uterine corpus endometrial adenocarcinoma

Clinics, 2021
OBJECTIVE: To determine the role of RNA-binding protein with serine-rich domain 1 (RNPS1) in uterine corpus endometrial carcinoma (UCEC), the role of RNPS1 knockdown in UCEC development in vitro and in vivo, and the relationship between RNPS1 and ...
Xiaojuan Liu, Hui Ma, Lisha Ma, Kun Li, Yanhua Kang   +4 more
doaj   +1 more source

BRAF V600E and Mismatch Repair Proteins Expression in Sporadic Young-onset Colorectal Cancer in Kelantan, Malaysia

Oman Medical Journal, 2021
Objectives: We sought to determine the immunohistochemistry expression of mismatch repair (MMR) and BRAF V600E proteins in sporadic young-onset colorectal cancer (CRC) and their association with clinicopathological features in the Kelantan population ...
Zubaidah Saizul, Ab Hamid Siti-Azrin, Andee Dzulkarnaen Zakaria, Aniza Hassan, Wan Faiziah Wan Abdul Rahman, and Nur Asyilla Che Jalil   +5 more
doaj   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Case Report: A New Subtype of Lynch Syndrome Associated With MSH2 c.1024_1026 Identified in a Chinese Family

Frontiers in Medicine, 2022
BackgroundLynch syndrome is an autosomal dominant disorder associated with a high incidence of various cancer types. Multiple variants of mismatch repair genes have been reported for Lynch syndrome. However, the diagnosis in patients with atypical cancer
Lu Li, Zhe Zhao, Zhe Zhao, Lin Dong, Jia Jia, Ke Su, Hua Bai, Jie Wang   +7 more
doaj   +1 more source

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

, 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.
Bowen, Nikki, Campbell, Christopher S, Desai, Arshad, Gries, Kerstin, Hombauer, Hans, Kolodner, Richard D, Putnam, Christopher D, Srivatsan, Anjana   +7 more
core   +6 more sources