Results 21 to 30 of about 40,013 (196)

Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome [PDF]

JAMA, 2006
Lynch syndrome is caused primarily by mutations in the mismatch repair genes MLH1 and MSH2.To analyze MLH1/MSH2 mutation prevalence in a large cohort of patients undergoing genetic testing and to develop a clinical model to predict the likelihood of finding a mutation in at-risk patients.Personal and family history were obtained for 1914 unrelated ...
Balmana, J, Stockwell, DH, Steyerberg, Ewout, Stoffel, EM, Deffenbaugh, AM, Reid, JE, Ward, B, Scholl, T, Hendrickson, B, Tazelaar, J, Burbidge, LA, Syngal, S   +11 more
openaire   +2 more sources

Does sex of the patient play a role in survival for MSI colorectal cancer? [PDF]

, 2018
Microsatellite instability (MSI) is a feature of colorectal tumors that develops as a result of inactivation of the DNA mismatch repair system. It is found in about 15% of all colorectal cancers and is an important prognostic molecular marker when ...
Alecu, Lucian, Hainarosie, Razvan, Iaciu, Cristian I., Jecan, Radu C., Nitipir, Cornelia, Orlov, Cristina, Pantea Stoian, Anca, Pituru, Silviu, Slavu, Iulian, Stanculeanu, Dana L., Tulin, Adrian, Tulin, Raluca   +11 more
core   +3 more sources

Identification of Exo1-Msh2 interaction motifs in DNA mismatch repair and new Msh2-binding partners [PDF]

Nature Structural & Molecular Biology, 2018
Eukaryotic DNA mismatch repair (MMR) involves both exonuclease 1 (Exo1)-dependent and Exo1-independent pathways. We found that the unstructured C-terminal domain of Saccharomyces cerevisiae Exo1 contains two MutS homolog 2 (Msh2)-interacting peptide (SHIP) boxes downstream from the MutL homolog 1 (Mlh1)-interacting peptide (MIP) box.
Eva M. Goellner, Christopher D. Putnam, William J. Graham, Christine M. Rahal, Bin-Zhong Li, Richard D. Kolodner   +5 more
openaire   +4 more sources

FGFR2 amplification in colorectal adenocarcinoma [PDF]

, 2017
FGFR2 is recurrently amplified in 5% of gastric cancers and 1%–4% of breast cancers; however, this molecular alteration has never been reported in a primary colorectal cancer specimen.
Carter, Jamal H, Cottrell, Catherine E, Duncavage, Eric J, Heusel, Jonathan W, Lamp, Stephen, McNulty, Samantha N, Vigh-Conrad, Katinka A   +6 more
core   +2 more sources

The properties of Msh2-Msh6 ATP binding mutants suggest a signal amplification mechanism in DNA mismatch repair. [PDF]

, 2018
DNA mismatch repair (MMR) corrects mispaired DNA bases and small insertion/deletion loops generated by DNA replication errors. After binding a mispair, the eukaryotic mispair recognition complex Msh2-Msh6 binds ATP in both of its nucleotide-binding sites,
Graham, William J, Kolodner, Richard D, Putnam, Christopher D   +2 more
core  

High-resolution mapping of heteroduplex DNA formed during UV-induced and spontaneous mitotic recombination events in yeast. [PDF]

, 2017
In yeast, DNA breaks are usually repaired by homologous recombination (HR). An early step for HR pathways is formation of a heteroduplex, in which a single-strand from the broken DNA molecule pairs with a strand derived from an intact DNA molecule.
Dominska, Margaret, Petes, Thomas D, Yim, Eunice, Yin, Yi   +3 more
core   +3 more sources

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +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   +2 more sources

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

Pancreatic Cancer and a Novel MSH2 Germline Alteration [PDF]

Pancreas, 2011
The objective of this study was to describe a novel MSH2 missense alteration cosegregating with pancreatic cancer.The method used was an observational study of a kindred in which a novel MSH2 missense alteration was identified.We report a family in which a MSH2 P349L missense alteration is cosegregating with pancreatic cancers among 3 nonsmoking first ...
Lindor, Noralane M., Petersen, Gloria M., Spurdle, Amanda B., Thompson, Bryony, Goldgar, David E., Thibodeau, Stephen N.   +5 more
openaire   +4 more sources