Results 11 to 20 of about 32,048 (238)

MSH6 syndrome [PDF]

Hereditary Cancer in Clinical Practice, 2008
Suchy Janina, Lubiński Jan
doaj   +3 more sources

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

A Human MSH6 Germline Variant Associated With Systemic Lupus Erythematosus Induces Lupus‐like Disease in Mice

ACR Open Rheumatology, 2022
Objective To determine if single‐nucleotide polymorphisms (SNPs) in DNA repair genes are enriched in individuals with systemic lupus erythematosus (SLE) and if they are sufficient to confer a disease phenotype in a mouse model.
Rithy Meas, Joanne Nititham, Kimberly E. Taylor, Stephen Maher, Kaylyn Clairmont, Kelly E. W. Carufe, Michael Kashgarian, Timothy Nottoli, Ana Cheong, Zachary D. Nagel, Patrick M. Gaffney, Lindsey A. Criswell, Joann B. Sweasy   +12 more
doaj   +1 more source

MSH6 and PMS2 expression in colorectal carcinoma. [PDF]

Bioinformation
Microsatellite instability (MSI) is a key feature in colorectal carcinomas (CRCs), but its role in diagnosis and prognosis, particularly through immunohistochemical markers like MSH6 and PMS2, remains underexplored. Conducted at Sree Balaji Medical College and Hospital, 50 histologically confirmed CRC samples were analyzed.
M S, S M, Ms J.
europepmc   +3 more sources

Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: Genetic reclassification and correlation with clinical features [PDF]

, 2004
Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly ...
Baretton, G., Daum, J., Gross, M., Holinski-Feder, E., Kopp, R., Lohse, P., Muders, M., Mussack, T., Müller-Koch, Y., Schiemann, Uwe   +9 more
core   +1 more source

Trypanosoma brucei and Trypanosoma cruzi DNA Mismatch Repair Proteins Act Differently in the Response to DNA Damage Caused by Oxidative Stress

Frontiers in Cellular and Infection Microbiology, 2020
MSH2, associated with MSH3 or MSH6, is a central component of the eukaryotic DNA Mismatch Repair (MMR) pathway responsible for the recognition and correction of base mismatches that occur during DNA replication and recombination.
Viviane Grazielle-Silva, Viviane Grazielle-Silva, Tehseen Fatima Zeb, Richard Burchmore, Carlos Renato Machado, Richard McCulloch, Santuza M. R. Teixeira   +6 more
doaj   +1 more source

Concurrent loss of MLH1, PMS2 and MSH6 immunoexpression in digestive system cancers indicating a widespread dysregulation in DNA repair processes

Frontiers in Oncology, 2022
Immunohistochemical analysis of mismatch repair (MMR) protein expression is widely used to identify tumors with a deficient MMR (dMMR). MMR proteins (MLH1/PMS2 and MSH2/MSH6) work as functional heterodimers, which usually leads to the loss of expression ...
Nic Gabriel Reitsam, Bruno Märkl, Sebastian Dintner, Johanna Waidhauser, Dmytro Vlasenko, Bianca Grosser   +5 more
doaj   +1 more source

MPTAC links alkylation damage signaling to sterol biosynthesis

Redox Biology, 2022
Overproduction of reactive oxygen species (ROS) drives inflammation and mutagenesis. However, the role of the DNA damage response in immune responses remains largely unknown.
Tamaki Suganuma, Jerry L. Workman
doaj   +1 more source

A Mutation in the MSH6 Subunit of the Saccharomyces cerevisiae MSH2-MSH6 Complex Disrupts Mismatch Recognition [PDF]

Journal of Biological Chemistry, 1999
In yeast, MSH2 interacts with MSH6 to repair base pair mismatches and single nucleotide insertion/deletion mismatches and with MSH3 to recognize small loop insertion/deletion mismatches. We identified a msh6 mutation (msh6-F337A) that when overexpressed in wild type strains conferred a defect in both MSH2-MSH6- and MSH2-MSH3-dependent mismatch repair ...
J, Bowers, T, Sokolsky, T, Quach, E, Alani   +3 more
openaire   +2 more sources

Signalling cell cycle arrest and cell death through the MMR System [PDF]

, 2006
Loss of DNA mismatch repair (MMR) in mammalian cells, as well as having a causative role in cancer, has been linked to resistance to certain DNA damaging agents including clinically important cytotoxic chemotherapeutics.
Brown, R., O'Brien, V.
core   +1 more source