Results 21 to 30 of about 732,644 (123)

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) [PDF]

, 2017
Background Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2.
N. C. Ramchander, D. G. Evans, Crosbie, E J, N. A. J. Ryan, E. J. Crosbie, Ramchander, N C, Evans, D G, Ryan, N A J   +7 more
core   +2 more sources

Endonucleolytic Function of MutLα in Human Mismatch Repair [PDF]

, 2006
SummaryHalf of hereditary nonpolyposis colon cancer kindreds harbor mutations that inactivate MutLα (MLH1•PMS2 heterodimer). MutLα is required for mismatch repair, but its function in this process is unclear.
Constantin, Nicoleta, Dzantiev, Leonid, Kadyrov, Farid A., Modrich, Paul   +3 more
core   +1 more source

Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis [PDF]

, 1995
Using gene targeting in embryonic stem cells, we have derived mice with a null mutation in a DNA mismatch repair gene homolog, PMS2. We observed microsatellite instability in the male germline, in tail, and in tumor DNA of PMS2-deficient animals.
Robatzek, Merrilee, Warren, Gwynedd, Yu, Jian, Baker, Sean M, Plug, Annemieke W, Flavell, Richard A, Elliott, Eileen A, Bronner, C.Eric, Ashley, Terry, Liskay, R.Michael, Zhang, Lin, Arnheim, Norman   +11 more
core   +1 more source

FAN1 activity on asymmetric repair intermediates is mediated by an atypical monomeric virus-type replication-repair nuclease domain [PDF]

, 2014
FAN1 is a structure-selective DNA repair nuclease with 5' flap endonuclease activity, involved in the repair of interstrand DNA crosslinks. It is the only eukaryotic protein with a virus-type replication-repair nuclease ("VRR-Nuc") "module" that commonly
David M.J. Lilley, Anne-Cécile Déclais, Déclais, Anne-Cécile, Simon Pennell, Pennell, Simon, Ian A. Taylor, Smerdon, Stephen J., Lilley, David M.J., Haire, Lesley F., José W. Saldanha, Berg, Wioletta, Saldanha, José W., Jiejin Li, Wioletta Berg, Li, Jiejin, Déclais, Anne-Cécile; id_orcid, Lilley, David M J, Lilley, David M. J.; id_orcid, Saldanha, José W, Taylor, Ian A., Stephen J. Smerdon, Haire, Lesley F, Rouse, John, Taylor, Ian A, John Rouse, Lesley F. Haire, Smerdon, Stephen J; id_orcid   +26 more
core   +1 more source

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

, 2022
BACKGROUND: Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome) are based on the mean age-specific cumulative risk (penetrance) of colorectal cancer for all carriers of pathogenic ...
International Mismatch Repair Consortium,
core   +1 more source

Mismatch Repair Proteins (MLH1, MSH2, MSH6, and PMS2) Immunohistochemical Expression and Microsatellite Instability in Endometrial Carcinoma [PDF]

, 2020
BACKGROUND: Endometrial cancer (EC) is the fourth most common female cancer worldwide constituting 7% of cancer in women. It is a disease of older, postmenopausal women.
Naguib, Hala M., Bakry, Rasha F., Talaat, Suzan Mohamed, Ismael, Nour El Hoda S.   +3 more
core   +1 more source

Mutations Affecting a Putative MutLa Endonuclease Motif Impact Multiple DNA Mismatch Repair Functions [PDF]

, 2007
Mutations in DNA mismatch repair (MMR) lead to increased mutation rates and higher recombination between similar, but not identical sequences, as well as resistance to certain DNA methylating agents.
Erdeniz, Naz, Liskay, R. Michael, Nguyen, Megan, Deschênes, Suzanne M.   +3 more
core   +1 more source

DNA mismatch repair mediated by Mlh1-Pms1 endonuclease-catalyzed mispair excision. [PDF]

Proc Natl Acad Sci U S A
Eukaryotic DNA mismatch repair (MMR) involves several excision pathways, including those mediated by exonuclease 1 (Exo1) and by the flap endonuclease Rad27 (human FEN1) coupled with DNA polymerase δ. Simultaneous inactivation of both excision mechanisms
Palacio T, Calil FA, Bowen N, Griffith JD, Putnam CD, Kolodner RD.   +5 more
europepmc   +2 more sources

A function of thymine DNA glycosylase-initiated DNA repair in maintaining epigenome stability [PDF]

, 2013
The Thymine DNA Glycosylase (TDG) was initially discovered by its ability to excise the deamination products of cytosine and 5-methylcytosine (5-mC), and therefore thought to initiate base excision repair (BER) of the resulting G•U and G•T mismatches.
Jacobs, Angelika L.
core   +1 more source

Endonuclease activities of MutLα and its homologs in DNA mismatch repair. [PDF]

, 2016
MutLα is a key component of the DNA mismatch repair system in eukaryotes. The DNA mismatch repair system has several genetic stabilization functions. Of these functions, DNA mismatch repair is the major one.
Lyudmila Y. Kadyrova, Kadyrova, Lyudmila Y, Farid A. Kadyrov, Kadyrov, Farid A   +3 more
core   +1 more source