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Items: 11

1.
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer
Maegan E Roberts, Sarah A Jackson, Lisa R Susswein, Nur Zeinomar, Xinran Ma, Megan L Marshall, Amy R Stettner, Becky Milewski, Zhixiong Xu, Benjamin D Solomon, Mary Beth Terry, Kathleen S Hruska, Rachel T Klein, Wendy K Chung
Genet Med. 2018; 20(10): 1167–1174. Published online 2018 Jan 18. doi: 10.1038/gim.2017.254
PMCID:
PMC6051923
ArticlePDF–2.8M
2.
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
M Clendenning, L Senter, H Hampel, K Lagerstedt Robinson, S Sun, D Buchanan, M D Walsh, M Nilbert, J Green, J Potter, A Lindblom, A de la Chapelle
J Med Genet. Author manuscript; available in PMC 2015 Feb 25.
Published in final edited form as: J Med Genet. 2008 Jun; 45(6): 340–345. Published online 2008 Jan 4. doi: 10.1136/jmg.2007.056150
PMCID:
PMC4339871
ArticlePDF–699K
3.
Functional PMS2 Hybrid Alleles Containing a Pseudogene-Specific Missense Variant Trace Back to a Single Ancient Intrachromosomal Recombination Event
Christina Ganster, Annekatrin Wernstedt, Hildegard Kehrer-Sawatzki, Ludwine Messiaen, Konrad Schmidt, Nils Rahner, Karl Heinimann, Christa Fonatsch, Johannes Zschocke, Katharina Wimmer
Hum Mutat. Author manuscript; available in PMC 2012 May 1.
Published in final edited form as: Hum Mutat. 2010 May; 31(5): 552–560. doi: 10.1002/humu.21223
PMCID:
PMC3341089
ArticlePDF–1.0M
4.
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination
Sophie Péron, Ayse Metin, Pauline Gardès, Marie-Alexandra Alyanakian, Eamonn Sheridan, Christian Peter Kratz, Alain Fischer, Anne Durandy
J Exp Med. 2008 Oct 27; 205(11): 2465–2472. doi: 10.1084/jem.20080789
PMCID:
PMC2571921
ArticlePDF–2.0M
5.
Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q
Ivana Marinovic-Terzic, Atsuko Yoshioka-Yamashita, Hideki Shimodaira, Elena Avdievich, Irina C. Hunton, Richard D. Kolodner, Winfried Edelmann, Jean Y. J. Wang
Proc Natl Acad Sci U S A. 2008 Sep 16; 105(37): 13993–13998. Published online 2008 Sep 3. doi: 10.1073/pnas.0806435105
PMCID:
PMC2528866
ArticlePDF–924K
6.
Deficient mismatch repair improves organismal fitness and survival of mice with dysfunctional telomeres
Irene Siegl-Cachedenier, Purificación Muñoz, Juana M. Flores, Peter Klatt, María A. Blasco
Genes Dev. 2007 Sep 1; 21(17): 2234–2247. doi: 10.1101/gad.430107
PMCID:
PMC1950861
ArticlePDF–1.0M
7.
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome
Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn Sheridan, David T. Bonthron
Am J Hum Genet. 2004 May; 74(5): 954–964. Published online 2004 Apr 7. doi: 10.1086/420796
PMCID:
PMC1181988
ArticlePDF–478K
8.
Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatin
Hideki Shimodaira, Atsuko Yoshioka-Yamashita, Richard D. Kolodner, Jean Y. J. Wang
Proc Natl Acad Sci U S A. 2003 Mar 4; 100(5): 2420–2425. Published online 2003 Feb 24. doi: 10.1073/pnas.0438031100
PMCID:
PMC151356
ArticlePDF–342K
9.
A Naturally Occurring hPMS2 Mutation Can Confer a Dominant Negative Mutator Phenotype
Nicholas C. Nicolaides, Susan J. Littman, Paul Modrich, Kenneth W. Kinzler, Bert Vogelstein
Mol Cell Biol. 1998 Mar; 18(3): 1635–1641. doi: 10.1128/mcb.18.3.1635
PMCID:
PMC108878
ArticlePDF–714K
10.
Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs.
G M Li, P Modrich
Proc Natl Acad Sci U S A. 1995 Mar 14; 92(6): 1950–1954. doi: 10.1073/pnas.92.6.1950
PMCID:
PMC42400
SummaryPage BrowsePDF–1.1M
11.
Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2
Latha Narayanan, James A. Fritzell, Sean M. Baker, R. Michael Liskay, Peter M. Glazer
Proc Natl Acad Sci U S A. 1997 Apr 1; 94(7): 3122–3127. doi: 10.1073/pnas.94.7.3122
PMCID:
PMC20332
ArticlePDF–276K

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