Results 11 to 20 of about 27,093,662 (158)

Characterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment [PDF]

Einstein (São Paulo)
Objective To describe the clinical characteristics and perform a multi-step bioinformatics evaluation of the pathogenicity of NM_000251.3(MSH2):c.1894_1898del (p.Ile633Lysfs*9), an MSH2 germline variant detected in a family with Lynch syndrome. Methods
Anisse Marques Chami, Thalia Rodrigues de Souza Zózimo, Carolina Guimarães Ramos Matosinho, Agnaldo Lopes da Silva-Filho, Maria Raquel Santos Carvalho, Letícia da Conceição Braga   +5 more
doaj   +2 more sources

Expression of PD-L1 in Microsatellite Instability High Tumours: A Retrospective Study [PDF]

Journal of Clinical and Diagnostic Research, 2023
Introduction: Microsatellite Instability (MSI) is the hallmark of Lynch syndrome/Constitutional Mismatch Repair Deficiency (CMMRD) and is also found in many sporadic cancers like colorectal cancer, endometrial, gastric, small intestine, urothelial ...
Dinisha Einstien, Gayathri Devi Thanigaimani, KS Mouleeswaran, A Prathiba, G Sarumathy, John Vergilin   +5 more
doaj   +1 more source

Mismatch repair proteins play a role in ATR activation upon temozolomide treatment in MGMT-methylated glioblastoma

Scientific Reports, 2022
The methylation status of the O6-methylguanine methyltransferase (MGMT) gene promoter has been widely accepted as a prognostic biomarker for treatment with the alkylator, temozolomide (TMZ). In the absence of promoter methylation, the MGMT enzyme removes
Sachita Ganesa, Amrita Sule, Ranjini K. Sundaram, Ranjit S. Bindra   +3 more
doaj   +1 more source

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

Nrf2 overexpression increases risk of high tumor mutation burden in acute myeloid leukemia by inhibiting MSH2

Cell Death and Disease, 2021
Nuclear factor erythroid 2-related factor 2 (Nrf2, also called NFE2L2) plays an important role in cancer chemoresistance. However, little is known about the role of Nrf2 in tumor mutation burden and the effect of Nrf2 in modulating DNA mismatch repair ...
Ping Liu, Dan Ma, Ping Wang, Chengyun Pan, Qin Fang, Jishi Wang   +5 more
doaj   +1 more source

MSH2 (human mutS homolog 2) [PDF]

, 2005
Review on MSH2 (human mutS homolog 2), with data on DNA, on the protein encoded, and where the gene is ...
Domingo, E, Schwartz, S Jr, S Jr Schwartz, E Domingo   +3 more
core   +1 more source