Results 11 to 20 of about 10,290 (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

Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis [PDF]

Health Science Reports
Background and Aims Colorectal cancer (CRC) is a serious global health problem, ranking first in men and third in women among all cancers worldwide.
Mahmood Rasool, Absarul Haque, Mohammed Alharthi, Tainus Ali, Sajjad Karim, Loubna Siraj Mira, Fahd Al‐Abbasi, Murad Aljiffry, Mohammed Ghunaim, Abdulrahman Sibiany, Peter Natesan Pushparaj   +10 more
doaj   +2 more sources

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

Andrias davidianus Ranavirus (ADRV) Genome Replicate Efficiently by Engaging Cellular Mismatch Repair Protein MSH2

Viruses, 2022
As nucleocytoplasmic large DNA viruses, replication of ranaviruses (genus Ranavirus, family Iridoviridae) involves a series of viral and host proteins.
Fei Ke, Renbao Wang, Zihao Wang, Qiya Zhang   +3 more
doaj   +1 more source

Single-nucleotide polymorphism profiling by multimodal-targeted next-generation sequencing in methotrexate-resistant and -sensitive human osteosarcoma cell lines

Frontiers in Pharmacology, 2023
Introduction: Methotrexate (MTX) is one of the most important drugs included in the first-line protocols to treat high-grade osteosarcoma (HGOS). Although several polymorphisms have been reported to be associated with drug response or MTX-related ...
Chiara Casotti, Chiara Casotti, Claudia Maria Hattinger, Maria Pia Patrizio, Silvia Luppi, Leonardo Fantoni, Leonardo Fantoni, Michela Pasello, Katia Scotlandi, Toni Ibrahim, Massimo Serra   +10 more
doaj   +1 more source

Phage inducible islands in the gram-positive cocci [PDF]

, 2016
The SaPIs are a cohesive subfamily of extremely common phage-inducible chromosomal islands (PICIs) that reside quiescently at specific att sites in the staphylococcal chromosome and are induced by helper phages to excise and replicate.
A Bolotin, A Chopin, A Ruzin, B Frígols, BA Duerkop, C Ubeda, C Ubeda, C Ubeda, C Ubeda, C Ubeda, CH O'Callaghan, CM Hamilton, D Straume, D Viana, Davida Smyth, E Charpentier, E Maiques, G Ram, G Ram, Geeta Ram, IT Paulsen, J Chen, J Chen, J Chen, J Scott, J Scott, J-P Claverys, JA Lindsay, John Chen, José R Penadés, JR Penadés, M Kanehisa, MA Tormo, MD Ferrer, Miguel Martí, MÁ Tormo-Más, MÁ Tormo-Más, N Carpena, N Quiles-Puchalt, N Quiles-Puchalt, Nuria Quiles-Puchalt, RC Matos, Richard P Novick, Roser Martínez-Rubio, RP Novick, RP Novick, Suzanne Humphrey, SV Nguyen   +47 more
core   +1 more source

Rustless translation [PDF]

, 2012
ATP binding cassette proteins are a large and diverse family of molecular machines and include transmembrane transporter, chromosome maintenance and DNA repair proteins, and translation factors.
Karl-Peter Hopfner, Roy
core   +1 more source

Characterization and comparative sequence analysis of the DNA mismatch repair MSH2 and MSH7 genes from tomato [PDF]

, 2009
DNA mismatch repair proteins play an essential role in maintaining genomic integrity during replication and genetic recombination. We successfully isolated a full length MSH2 and partial MSH7 cDNAs from tomato, based on sequence similarity between MutS ...
Tam, Sheh May, Samipak, Sompid, Britt, Anne, Chetelat, Roger T.   +3 more
core   +1 more source