Results 151 to 160 of about 16,168 (189)

Tiam1 up-regulation by long non-coding RNA ABHD11-AS1 sponging of miR-182-5p causes β-catenin pathway activation to promote hexavalent chromium lung carcinogenesis. [PDF]

J Hazard Mater
Bi Z, Wang PS, Liu Z, Finkelberg ML, Li E, Carlson D, Shroyer KR, Yang C, Wang Z.   +8 more
europepmc   +1 more source

Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers. [PDF]

Fam Cancer
Buchanan DD, Alvarez R, Mahmood K, Clendenning M, Georgeson P, Walker R, Como J, Preston SG, Joseland S, Mohammadsaeedi K, Aguirre F, Zhou L, Hazelett DJ, Jenkins MA, Rosty C, Winship IM, Macrae FA, Dwarte TM, Nixon D, Hitchins MP, Joo JE.   +20 more
europepmc   +1 more source

Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines. [PDF]

Diagn Pathol
Vazzano Goldstone J, Logan SJ, Wilkins BJ, MacFarland SP, Conces M, Boué DR, Pierson CR, Kahwash S, Schieffer KM, Cottrell CE, Colace S, Zajo K, Shenoy A.   +12 more
europepmc   +1 more source

Immune checkpoint inhibitors in children with replication-repair-deficient high-grade gliomas. The South London Paediatric & TYA Neuro-Oncology Network experience

Perez-Somarriba M, Campello A, Benjamin P, Reisz Z, Bodi I, Al-Sarraj S, Bridges LR, Kumar A, Jacques TS, Zebian B, Bleil C, Aquilina K, Hettige S, Mastronuzzi A, Srivatsa K, Cockle J, Mandeville H, Marshall LV, Vaidya S, Stengs L, Bianchi V, Jones C, Lassaletta A, Das A, Tabori U, Carceller F.   +25 more
europepmc   +1 more source

PMS2 monoallelic mutation carriers: the known unknown [PDF]

Genetics in Medicine, 2016
Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied, and multiple professional societies have proposed clinical management guidelines for affected individuals. Several studies have demonstrated a reduced penetrance for monoallelic carriers
Mckinsey L Goodenberger, Brittany C Thomas, Douglas L Riegert-Johnson   +2 more
exaly   +4 more sources

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Polymorphisms in a pseudogene highly homologous to PMS2

Human Mutation, 2000
PMS2 is one of a complex of genes encoding DNA repair proteins that includes MSH2, MLH1, MSH6 and MSH3. Mutation of any of these DNA mismatch repair genes leads to impairment of DNA repair and can lead to tumorigenesis. Germline mutation of PMS2 has been reported as a rare cause of hereditary nonpolyposis colorectal cancer (HNPCC) and Turcot's syndrome.
Robert B Chadwick, T W Prior, Päivi Peltomaki   +2 more
exaly   +3 more sources

Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2

Human Mutation, 2011
Lynch syndrome is characterized by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2. In PMS2, detection of mutations is confounded by numerous pseudogenes. Detection of 3' deletions is particularly complicated by the pseudogene PMS2CL, which has strong similarity to PMS2 exons 9 and 11-15, due to extensive gene conversion.
Cecily P Vaughn, Wade S Samowitz, Jeffrey J Swensen   +2 more
exaly   +3 more sources

An intact Pms2 ATPase domain is not essential for male fertility [PDF]

DNA Repair, 2016
The DNA mismatch repair (MMR) machinery in mammals plays critical roles in both mutation avoidance and spermatogenesis. Meiotic analysis of knockout mice of two different MMR genes, Mlh1 and Mlh3, revealed both male and female infertility associated with a defect in meiotic crossing over.
Sandra Dudley, R Michael Liskay, Jared M Fischer   +2 more
exaly   +3 more sources

PMS2 involvement in patients suspected of Lynch syndrome

Genes, Chromosomes and Cancer, 2009
AbstractIt is well‐established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that germline mutations in another mismatch repair gene, PMS2, play a far more important role in Lynch ...
Niessen, Renee C., Kleibeuker, Jan H., Westers, Helga, Jager, Paul O. J., Rozeveld, Dennie, Bos, Krista K., Boersma-van Ek, Wytske, Hollema, Harry, Sijmons, Rolf H., Hofstra, Robert M. W.   +9 more
openaire   +3 more sources