Genomes and Genes
Gene Symbol: PMS2
Description: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Alias: HNPCC4, PMS2CL, PMSL2, DNA mismatch repair protein PMS2, H_DJ0042M02.9, PMS1 protein homolog 2, mismatch repair endonuclease PMS2
Publications174 found, 100 shown here
- Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancerMelissa C Southey
Genetic Epidemiology Laboratory, Department of Pathology, Australia
J Clin Oncol 23:6524-32. 2005..The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis...
- BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structuresY Wang
Verna and Mars McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
Genes Dev 14:927-39. 2000..Collectively, these results suggest that BRCA1 may function as a coordinator of multiple activities required for maintenance of genomic integrity during the process of DNA replication and point to a central role for BRCA1 in DNA repair...
- The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutationsLeigha Senter
Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, USA
Gastroenterology 135:419-28. 2008..also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers...
- Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patientsHeather Hampel
Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center, 420 West 12th Avenue, Columbus, OH 43210, USA
Cancer Res 66:7810-7. 2006..Patients with MSI-positive tumors underwent testing for germ line mutations in MLH1, MSH2, MSH6, and PMS2. Of 543 tumors studied, 118 (21.7%) were MSI positive (98 of 118 MSI high and 20 of 118 MSI low)...
- The interaction of the human MutL homologues in hereditary nonpolyposis colon cancerS Guerrette
Genetics and Molecular Biology Program, Department of Microbiology and Immunology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
J Biol Chem 274:6336-41. 1999....
- Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatinHideki Shimodaira
Ludwig Institute for Cancer Research, University of California at San Diego, Bonner Hall 3326, 9500 Gilman Drive, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 100:2420-5. 2003..Here, we describe an interaction between PMS2, an MMR protein, and p73...
- Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20QIvana Marinovic-Terzic
Moores Cancer Center, University of California, San Diego, School of Medicine, 3855 Health Sciences Drive, La Jolla, CA 92093, USA
Proc Natl Acad Sci U S A 105:13993-8. 2008..It is shown that postmeiotic segregation 2 (PMS2), an MMR protein, is required for cisplatin-induced activation of p73, a member of the p53 family of transcription ..
- Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repairGuy Tomer
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97201, USA
J Biol Chem 277:21801-9. 2002MutLalpha, a heterodimer composed of Mlh1 and Pms2, is the major MutL activity in mammalian DNA mismatch repair. Highly conserved motifs in the N termini of both subunits predict that the protein is an ATPase...
- The PMS2 subunit of human MutLalpha contains a metal ion binding domain of the iron-dependent repressor protein familyJan Kosinski
Laboratory of Bioinformatics and Protein Engineering, International Institute of Molecular and Cell Biology, Trojdena 4, 02 109 Warsaw, Poland
J Mol Biol 382:610-27. 2008..Finally, we demonstrate that the conserved residues of the metal ion binding domain are crucial for MMR activity of MutLalpha in vitro...
- Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1Stefan Kruger
Department of Surgical Research, Dresden University of Technology, Dresden, Germany
Eur J Hum Genet 16:62-72. 2008Heterozygous germline mutations in mismatch repair (MMR) genes MLH1, PMS2, MSH2, and MSH6 cause Lynch syndrome...
- Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNAFinn Cilius Nielsen
Department of Clinical Biochemistry, Rigshospitalet, DK 2100 Copenhagen, Denmark
Oncogene 23:1457-68. 2004..Taken together, the results support a model in which hEXO1 plays a role in events at the replication sites as well as a functional role in the MMR and/or recombination processes...
- Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretationHidewaki Nakagawa
Division of Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, 420 West 12th Avenue, Columbus, OH 43210, USA
Cancer Res 64:4721-7. 2004..We detected and characterized a new transcript, PMS2CL, showing 98% sequence identity with exons 9 and 11-15 of PMS2 and emanating from a locus close to PMS2 in ..
- Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancerKaspar Truninger
Institute of Molecular Cancer Research, University of Zurich, Switzerland
Gastroenterology 128:1160-71. 2005..The protein encoded by PMS2 is also essential for MMR; however, alterations in this gene have been documented only in extremely rare cases...
- Genomic organization of the human PMS2 gene familyN C Nicolaides
Johns Hopkins Oncology Center, Baltimore, Maryland 21231, USA
Genomics 30:195-206. 1995The hPMS2 gene (HGMW-approved symbol PMS2) encodes a mutL homolog that causes hereditary non-polyposis colon cancer (HNPCC) when inherited in mutant form...
- Mutations of two PMS homologues in hereditary nonpolyposis colon cancerN C Nicolaides
Johns Hopkins Oncology Center, Baltimore, Maryland 21231
Nature 371:75-80. 1994..Both hPMS1 and hPMS2 were found to be mutated in the germline of HNPCC patients. This doubles the number of genes implicated in HNPCC and may help explain the relatively high incidence of this disease...
- PMS2 mutations in childhood cancerMichel De Vos
University of Leeds, Yorkshire Regional Genetics Service, United Kingdom
J Natl Cancer Inst 98:358-61. 2006Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus...
- Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregationSharlene Gill
British Columbia Cancer Agency, Vancouver, British Columbia, Canada
Clin Cancer Res 11:6466-71. 2005..The genetic deficiency leading to the MSI-H phenotype in such cases is unknown. PMS2 is another member of the DNA mismatch repair complex...
- Interactions of the DNA mismatch repair proteins MLH1 and MSH2 with c-MYC and MAXMary Mac Partlin
Department of Medical Oncology, Glasgow University, UK
Oncogene 22:819-25. 2003..The effect on HGPRT mutation rate is small (2-3-fold), but is consistent with deregulated c-MYC expression partially inhibiting MMR activity...
- A frame-shift mutation of PMS2 is a widespread cause of Lynch syndromeM Clendenning
Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
J Med Genet 45:340-5. 2008When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples ..
- A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutationsEmiko Kondo
Department of Molecular Pathology, Tohoku University School of Medicine, Miyagi 980 8575, Japan
Cancer Res 63:3302-8. 2003..Thus, this method provides a simple and reliable system for accurate diagnosis of hMLH1 alterations...
- Clinical implications of advances in the molecular genetics of colorectal cancerH T Lynch
Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68179, USA
Tumori 81:19-29. 1995..PMS1 at chromosome 2p and PMS2 2 at chromosome 7q have also been implicated in HNPCC's etiology...
- Expression of deoxyribonucleic acid repair enzymes during spermatogenesis in miceL L Richardson
Department of Biochemistry and Cellular and Molecular Biology, University of Tennessee, Knoxville, Tennessee 37996 0840, USA
Biol Reprod 62:789-96. 2000..reverse transcription-polymerase chain reaction approach to identify germ cell transcripts for the MutL homologue, Pms2, and two members of the MutS family, Msh2 and Msh3...
- Giant virus with a remarkable complement of genes infects marine zooplanktonMatthias G Fischer
Department of Microbiology, University of British Columbia, Vancouver, BC, Canada V6T 1Z4
Proc Natl Acad Sci U S A 107:19508-13. 2010..CroV is a highly complex marine virus and the only virus studied in genetic detail that infects one of the major groups of predators in the oceans...
- [How can we diagnose and better understand inflammatory myopathies? The usefulness of auto-antibodies]Jean Sibilia
CHU de Strasbourg, Hopital Hautepierre, Service de Rhumatologie, Laboratoire d Immunologie, 67098 Strasbourg Cedex, France
Presse Med 39:1010-25. 2010..Other auto-antibodies are directed against nuclear auto-antigens: the anti-Mi-2, anti-PMS (PMS1, PMS2) and related antibodies (MLH1, DNA PKcs…), anti-56 kDa, anti-MJ (NXP-2), anti-SAE and anti-p155/p140 (TIF-1γ)...
- Paternal exposure to cyclophosphamide induces DNA damage and alters the expression of DNA repair genes in the rat preimplantation embryoW Harrouk
Departments of Pharmacology and Therapeutics, McGill University, 3655 Promenade Sir William Osler, Montreal, H3G 1Y6, Quebec, Canada
Mutat Res 461:229-41. 2000..transcripts for specific members of the nucleotide excision repair family (XPC) and mismatch repair family (MSH2, PMS2) were elevated greatly in control embryos compared to embryos sired by drug-treated males; in contrast, transcripts ..
- Impact of mismatch repair deficiency on genomic stability in the maternal germline and during early embryonic developmentJon S Larson
Department of Molecular Genetics, Biochemistry and Microbiology, College of Medicine, University of Cincinnati, Cincinnati, OH 45267 0524, USA
Mutat Res 556:45-53. 2004The effects of lack of the mismatch repair protein PMS2 on germline and maternal-effect mutations were studied in transgenic mice that allow mutant cells to be visualized in situ...
- A novel trinuclear platinum complex overcomes cisplatin resistance in an osteosarcoma cell systemP Perego
Division of Experimental Oncology B, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy
Mol Pharmacol 55:528-34. 1999..ICL) formation and DNA platination, microsatellite instability, and reduced expression of the DNA mismatch repair protein PMS2. Despite BBR 3464 charge and molecular size, in U2-OS and U2-OS/Pt cells, BBR 3464 accumulation and ..
- Patients with an unexplained microsatellite instable tumour have a low risk of familial cancerL I H Overbeek
Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Br J Cancer 96:1605-12. 2007..for microsatellite instability, MLH1 promoter methylation and/or germline mutations in MLH1, MSH2, MSH6, and PMS2. Characteristics of the 76 families with a germline mutation (24 MLH1, 2 PMS2, 32 MSH2, and 18 MSH6) were compared ..
- Attaching and effacing Escherichia coli downregulate DNA mismatch repair protein in vitro and are associated with colorectal adenocarcinomas in humansOliver D K Maddocks
Division of Pathology, Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
PLoS ONE 4:e5517. 2009..We hypothesised that EPEC infection could influence molecular pathways involved in colorectal tumourigenesis...
- Mice defective in the DNA mismatch gene PMS2 are hypersensitive to MNU induced thymic lymphoma and are partially protected by transgenic expression of human MGMTX Qin
Division of Hematology Oncology, Case Western Reserve University, Cleveland, Ohio, OH 44106 4937, USA
Oncogene 18:4394-400. 1999DNA mismatch repair (MMR) stabilizes the cellular genome. Mice defective in the MMR gene PMS2 are susceptible to spontaneous thymic lymphoma and sarcomas...
- Endometrial and ovarian carcinomas with undifferentiated components: clinically aggressive and frequently underrecognized neoplasmsLaura J Tafe
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Mod Pathol 23:781-9. 2010..expression by immunohistochemistry was evaluated in 17 cases, and 8 (47%) were abnormal (7 with loss of MLH1/PMS2 and 1 with MSH6 loss)...
- Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factorsNurten Saydam
Institute of Molecular Cancer Research of the University of Zurich, Switzerland
Nucleic Acids Res 35:5706-16. 2007..Here we show that WRN physically interacts with the MSH2/MSH6 (MutSalpha), MSH2/MSH3 (MutSbeta) and MLH1/PMS2 (MutLalpha) heterodimers that are involved in the initiation of mismatch repair (MMR) and the rejection of ..
- Selection of endometrial carcinomas for DNA mismatch repair protein immunohistochemistry using patient age and tumor morphology enhances detection of mismatch repair abnormalitiesKaruna Garg
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
Am J Surg Pathol 33:925-33. 2009..The rate of IHC abnormality in the younger group was approximately 30% with a nearly equal distribution of MLH1/PMS2 and MSH2/MSH6 abnormalities. In the older age group, TM-MMR triggered IHC analysis in 31 of 34 cases...
- Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancerJ Teruya-Feldstein
Department of Pathology, Memorial Sloan Kettering Cancer Center, Memorial Hospital, New York, NY 10021, USA
Leuk Lymphoma 43:1619-26. 2002..These MMR genes include MLH1, MSH2, MSH3, MSH6, PMS1 and PMS2. We sought to analyze the occurrence of NHL and HD in families with clusters of colorectal cancers (CRC)...
- Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndromeC P Kratz
Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Schoepfstr 41, 6020 Innsbruck, Austria
J Med Genet 46:418-20. 2009Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1)...
- Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriersKatarina Zavodna
Laboratory of Cancer Genetics, Cancer Research Institute of Slovak Academy of Sciences, Vlarska 7, 833 91 Bratislava, Slovak Republic
BMC Cancer 9:405. 2009..We sought to determine the frequency of LGRs in Slovak HNPCC patients and to study LOH in tumors from LGR carriers at the LGR region, as well as at other heterozygous markers within the gene to more precisely define conversion tracts...
- A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcriptsWenche Sjursen
Department of Pathology and Medical Genetics, St Olavs University Hospital, Erling Skjalgssons gt 1, 7006 Trondheim, Norway
Fam Cancer 8:179-86. 2009..cDNA analysis was carried out for the mismatch repair gene PMS2. The patients genotype was found to be a homozygous splice site mutation in the PMS2 gene, c...
- Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancerOlivia Will
Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research, London, UK
Gastroenterology 132:527-30. 2007..He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis...
- BRCA1 activates a G2-M cell cycle checkpoint following 6-thioguanine-induced DNA mismatch damageKazuhiko Yamane
Department of Radiation Oncology, Case Western Reserve University and Case Comprehensive Cancer Center University Hospitals Case Medical Center, Cleveland, Ohio 44106 6068, USA
Cancer Res 67:6286-92. 2007..The MMR proteins MSH2, MSH6, MLH1, and PMS2 are similarly detected in both cell lines...
- Modulation of error-prone double-strand break repair in mammalian chromosomes by DNA mismatch repair protein Mlh1Laura A Bannister
Department of Biological Sciences, University of South Carolina, 700 Sumter Street, Columbia, SC 29208, USA
DNA Repair (Amst) 3:465-74. 2004..Collectively, our results suggest that Mlh1 modulates error-prone NHEJ by inhibiting the annealing of DNA ends containing noncomplementary base pairs or by promoting the annealing of microhomologies...
- Baseline expression profile of meiotic-specific genes in healthy fertile malesCarme Nogues
Departament Biologia Cel lular, Fisiologia i Immunologia, Universitat Autonoma Barcelona, Bellaterra, Spain
Fertil Steril 92:578-82. 2009To establish the quantitative gene-expression profile of nine meiotic genes involved in synapsis and chromosome cohesion (SYCP1, SPO11, MSH4, MSH5, MLH1, MLH3, PMS2, STAG3, and REC8) in healthy fertile males.
- Compromised repair of clustered DNA damage in the human acute lymphoblastic leukemia MSH2-deficient NALM-6 cellsStewart M Holt
Department of Biology, Thomas Harriot College of Arts and Sciences, East Carolina University, Greenville, NC 27858, USA
Mutat Res 674:123-30. 2009..Our studies suggest that MSH2 is probably involved in the processing of the biologically significant clustered DNA damages as well as the execution of apoptosis induced by ionizing radiation...
- TGF-beta signaling alterations and susceptibility to colorectal cancerYanfei Xu
Cancer Genetics Program, Division of Hematology Oncology, Department o Medicine, Robert H Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
Hum Mol Genet 16:R14-20. 2007..all colorectal cancer cases, a fraction higher than that attributable to mismatch repair genes MLH1, MSH2, MSH6 and PMS2. Furthermore, TGFBR1*6A is emerging as a potent modifier of colorectal cancer risk among individuals with a strong ..
- Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and youngerKristin C Jensen
Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
Am J Surg Pathol 32:1029-37. 2008..D5S346, and D17S250) and deficiency of MMR protein expression by immunohistochemistry (MLH1, MSH2, MSH6, and PMS2)...
- Genome-scale identification method applied to find cryptic aminoglycoside resistance genes in Pseudomonas aeruginosaJulie M Struble
Department of Chemical and Biological Engineering, University of Colorado, Boulder, CO, USA
PLoS ONE 4:e6576. 2009..Improving understanding of the evolution and genetic basis of resistance is a fundamental goal in the field of microbiology...
- Hijacked DNA repair proteins and unchained DNA polymerasesHuseyin Saribasak
Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
Philos Trans R Soc Lond B Biol Sci 364:605-11. 2009..In the mutagenic pathway, we first studied the role of mismatch repair proteins, MSH2, MSH3, MSH6, PMS2 and MLH1, since they would recognize mismatches...
- Heterozygous DNA mismatch repair gene PMS2-knockout mice are susceptible to intestinal tumor induction with N-methyl-N-nitrosoureaX Qin
Division of Hematology Oncology and Ireland Cancer Center, University Hospitals of Cleveland and Case Western Reserve University, Cleveland, OH 44106 4937, USA
Carcinogenesis 21:833-8. 2000b>PMS2-deficient (PMS2(-/-)) mice are hypersensitive to N-methyl-N-nitrosourea (MNU)-induced thymic lymphomas based on the failure to initiate mismatch repair (MMR) at O(6)-methylguanine:T mismatches formed after MNU exposure...
- Frequency and types of spontaneous Hprt lymphocyte mutations in Pms2-deficient miceJoseph G Shaddock
Division of Genetic and Reproductive Toxicology, National Center for Toxicological Research, US FDA, Jefferson, AR 72079, USA
Mutat Res 595:69-79. 2006Deficiencies in DNA mismatch repair (MMR) result in predisposition to neoplasia in both rodents and humans. Pms2 is one of the several proteins involved in the eukaryotic MMR system...
- Utility of immunohistochemistry in predicting microsatellite instability in endometrial carcinomaIppolito Modica
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Am J Surg Pathol 31:744-51. 2007..Overall, IHC with MLH1 and MSH2 antibodies detected 69% of MSI-H tumors with a specificity of 100%. Adding PMS2 and MSH6 to the antibody panel increased the sensitivity to 91% but decreased the specificity to 83%...
- Ntg2p, a Saccharomyces cerevisiae DNA N-glycosylase/apurinic or apyrimidinic lyase involved in base excision repair of oxidative DNA damage, interacts with the DNA mismatch repair protein Mlh1p. Identification of a Mlh1p binding motifLionel Gellon
Commissariat a l Energie Atomique, Departement de Radiobiologie et Radiopathologie, UMR217 CNRS CEA Radiobiologie Moléculaire et Cellulaire, Fontenay aux Roses 92265, France
J Biol Chem 277:29963-72. 2002..Therefore, we propose that the R/K-S-R/K-Y/F-Y/F sequence could define a Mhl1 binding motif. The results also suggest that base excision repair and MMR can cooperate to prevent deleterious effects of oxidative DNA damage...
- Hypermutability to ionizing radiation in mismatch repair-deficient, Pms2 knockout miceX S Xu
Departments of Therapeutic Radiology and Genetics, Yale University School of Medicine, New Haven, Connecticut 06520 8040, USA
Cancer Res 61:3775-80. 2001..this tolerance phenotype would render MMR-deficient animals hypermutable to IR, we compared IR mutagenesis of Pms2-deficient versus wild-type transgenic mice carrying a lambda shuttle vector for mutation detection...
- Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistryJinru Shia
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
J Mol Diagn 10:293-300. 2008..More recent studies that included postmeiotic segregation increased 2 (PMS2) and MSH6, on the other hand, have demonstrated an IHC predictive value that is virtually equivalent to that of MSI ..
- Correlation of mismatch repair genes immunohistochemistry and microsatellite instability status in HNPCC-associated tumoursAndrew Ruszkiewicz
Institute of Medical and Veterinary Science, Tissue Pathology, Royal Adelaide Hospital, Adelaide, South Australia
Pathology 34:541-7. 2002The aim of this study was to assess the performance of immunohistochemistry using antibodies for MLH1, MSH2, MSH6 and PMS2 mismatch repair gene proteins against microsatellite instability (MSI) testing.
- Transgenic expression of human MGMT blocks the hypersensitivity of PMS2-deficient mice to low dose MNU thymic lymphomagenesisX Qin
Division of Hematology Oncology and the Ireland Cancer Center, Case Western Reserve University, Cleveland, OH 44106 4937, USA
Carcinogenesis 20:1667-73. 1999Mice deficient in the DNA mismatch repair (MMR) gene, PMS2, develop spontaneous thymic lymphomas and sarcomas. We have previously shown that PMS2(-/-) mice were hypersensitive to a single i.p...
- Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repairJan Kosinski
Laboratory of Bioinformatics and Protein Engineering, International Institute of Molecular and Cell Biology, Warsaw, Poland
Hum Mutat 31:975-82. 2010..are located in the C-terminal domain (CTD) of MLH1, which is responsible for constitutive dimerization with PMS2. We analyzed which alterations may result in pathogenic effects due to interference with dimerization...
- Neoadjuvant therapy induces loss of MSH6 expression in colorectal carcinomaFei Bao
Department of Pathology, Columbia University Medical Center, Weill Cornell Medical College, New York, NY, USA
Am J Surg Pathol 34:1798-804. 2010..instability (MSI), and the combined results of mutL homolog 1 (MLH1), postmeiotic segregation increased 2 (PMS2), mutS homolog 2 (MSH2), or mutS homolog 6 (MSH6) immunostains may point to the defective MMR protein in tumors ..
- Analysis of the quaternary structure of the MutL C-terminal domainJan Kosinski
Institut für Biochemie FB 08, Justus Liebig Universitat, Giessen D 35392, Germany
J Mol Biol 351:895-909. 2005....
- Microsatellite instability markers for identifying early-onset colorectal cancers caused by germ-line mutations in DNA mismatch repair genesLeeanne J Mead
Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia
Clin Cancer Res 13:2865-9. 2007..We wanted to examine which microsatellite markers currently used to detect MSI best predict early-onset colorectal cancer caused by germ-line mutations in MMR genes...
- Family history and molecular features of children, adolescents, and young adults with colorectal carcinomaC Durno
Division of Gastroenterology and Clinical Nutrition, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, Ontario, Canada M5G 1X8
Gut 54:1146-50. 2005..Colorectal cancer is extremely rare in childhood. Published case series reporting children and adolescents with colorectal cancer have not focused on the underlying genetic aspects of the tumour or genetic susceptibility of the families...
- Adenosine triphosphate stimulates Aquifex aeolicus MutL endonuclease activityJerome Mauris
New England Biolabs, Inc, Ipswich, Massachusetts, USA
PLoS ONE 4:e7175. 2009Human PMS2 (hPMS2) homologues act to nick 5' and 3' to misincorporated nucleotides during mismatch repair in organisms that lack MutH. Mn(++) was previously found to stimulate the endonuclease activity of these homologues...
- Methylation damage response in hematopoietic progenitor cellsIda Casorelli
Section of Experimental Carcinogenesis, Department of Environment and Primary Prevention, Istituto Superiore di Sanita, Rome, Italy
DNA Repair (Amst) 6:1170-8. 2007..The overexpressed genes included members of the mismatch repair (MMR) (MSH2, MSH6, MLH1, PMS2), base excision repair (AAG, APEX), DNA damage reversal (O(6)-methylguanine DNA methyltransferase) (MGMT), and DNA ..
- Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutationsSteffen Pistorius
Department of Visceral, Thoracic and Vascular Surgery, Technische Universitat Dresden, Fetscherstr 74, 01307 Dresden, Germany
Cancer Lett 248:89-95. 2007..disease with high penetrance, caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, PMS2 and MLH3...
- Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient's age or other clinical characteristicsLurmag Orta
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Am J Surg Pathol 33:934-44. 2009..with 1 or more sebaceous neoplasms based on the pattern of immunohistochemical expression of MLH1, MSH2, MSH6, and PMS2, and comparatively analyzed their clinical and pathologic characteristics, including tumor-infiltrating lymphocytes ..
- Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized settingLucia I H Overbeek
Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands
Am J Surg Pathol 32:1246-51. 2008..from 5 different pathology laboratories evaluated 100 molecularly defined colorectal cancers stained for MLH1, PMS2, MSH2, and MSH6...
- Changes in the expression profile of the meiosis-involved mismatch repair genes in impaired human spermatogenesisErnest Terribas
Medical and Molecular Genetics Center Fundació IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
J Androl 31:346-57. 2010..of MMR genes in impaired human spermatogenesis, we performed transcript levels analysis of MMR genes (MLH1, MLH3, PMS2, MSH4, and MSH5), and other meiosis-involved genes (ATR, HSPA2, and SYCP3) as controls, by real-time reverse ..
- Counterpoint: implementing population genetic screening for Lynch Syndrome among newly diagnosed colorectal cancer patients--will the ends justify the means?Michael J Hall
Medical Oncology and Cancer Prevention and Control, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA
J Natl Compr Canc Netw 8:606-11. 2010Inherited mutations in 1 of 4 known mismatch repair genes (MLH1, MSH2, MSH6, PMS2) are associated with various cancer risks collectively referred to as Lynch syndrome...
- Localization of MMR proteins on meiotic chromosomes in mice indicates distinct functions during prophase INadine K Kolas
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
J Cell Biol 171:447-58. 2005..Mutations of three of the four MutL homologues (Mlh1, Mlh3, and Pms2) result in meiotic defects...
- Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-AT Kato
Radiation Biology Center, Kyoto University, Kyoto 606, Japan
Mutat Res 422:279-83. 1998....
- The Bloom's syndrome helicase interacts directly with the human DNA mismatch repair protein hMSH6Graziella Pedrazzi
Institute of Veterinary Biochemistry and Molecular Biology, University of Zurich, Winterthurerstr 190, CH 8057 Zurich, Switzerland
Biol Chem 384:1155-64. 2003....
- Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of BrazilSilvia Liliana Cossio
Programa de Pós Graduação em Medicina Ciências Gastroenterológicas, Universidade Federal do Rio Grande do Sul UFRGS, Porto Alegre, RS, Brazil
Fam Cancer 9:131-9. 2010..syndrome caused by germline mutations in one of the mismatch repair (MMR) genes: MLH1, MSH2, MSH6 and PMS2. Clinically, Lynch syndrome is characterized by early onset (45 years) of colorectal cancer (CRC), as well as extra-..
- Genetic susceptibility to distinct bladder cancer subphenotypesLin T Guey
Spanish National Cancer Research Centre, Madrid, Spain
Eur Urol 57:283-92. 2010..It is conceivable that specific patterns of genetic susceptibility are associated with particular subphenotypes...
- Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6Denise Campisi Hegan
Department of Therapeutic Radiology, Yale University School of Medicine, PO Box 208040, New Haven, CT 06520 8040, USA
Carcinogenesis 27:2402-8. 2006..in MMR-deficient mice using two transgenic reporter genes, supFG1 and cII, in the context of mice deficient for Pms2, Mlh1, Msh2, Msh3 or Msh6 or both Msh2 and Msh3 or both Msh3 and Msh6...
- [Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation]D Ilencikova
II detská klinika, LF UK a DFNsP Bratislava, Slovenska republika
Klin Onkol 25:S34-8. 2012..Biallelic germline mutations of genes MLH1, MSH2, MSH6 and PMS2 in CMMR-D are characterized by increased risk of hematological malignancies, atypical brain tumors and early onset ..
- Colorectal adenocarcinoma: a pediatric case review with a focus on mismatch repair gene mutations and E-cadherin expressionRaul S Gonzalez
Department of Pathology, Emory University, Atlanta, GA 30322, USA
Pediatr Dev Pathol 15:192-8. 2012..Germ line mutations in DNA mismatch repair (MMR) genes (eg, MLH1, MSH2, PMS2, MSH6) have been established as the molecular genetic basis of Lynch syndrome...
- Identification of nuclear protein targets for six leukemogenic tyrosine kinases governed by post-translational regulationAndrew Pierce
Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom
PLoS ONE 7:e38928. 2012..Validation of a common change was also undertaken with PMS2, a DNA mismatch repair protein...
- Some amino acids of the Pseudomonas aeruginosa MutL D(Q/M)HA(X)(2)E(X)(4)E conserved motif are essential for the in vivo function of the protein but not for the in vitro endonuclease activityElisa M E Correa
Centro de Investigaciones en Quimica Biologica de Cordoba, Departamento de Quimica Biologica, Facultad de Ciencias Quimicas, Universidad Nacional de Cordoba, Haya de la Torre y Medina Allende, Ciudad Universitaria, X5000HUA, Cordoba, Argentina
DNA Repair (Amst) 10:1106-13. 2011..Conserved amino acids of the C-terminal region of human PMS2, S...
- Germ-line mutations in mismatch repair genes associated with prostate cancerEli Marie Grindedal
Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet University Hospital, N 0310 Oslo, Norway
Cancer Epidemiol Biomarkers Prev 18:2460-7. 2009..The mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 are associated with Lynch syndrome where colon and endometrial cancers are the predominant phenotypes...
- Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndromeIsrael Zighelboim
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Washington University School of Medicine and Siteman Cancer Center, St Louis, MO 63110, USA
Fam Cancer 8:501-4. 2009..We demonstrated high-level MSI and normal expression for MLH1, MSH2 and MSH6. PMS2 failed to stain in both tumors, strongly implicating a PMS2 defect...
- Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patientsSabrina Titze
Department of Neuropathology, Charite Universitatsmedizin Berlin, Berlin 10117, Germany
Eur J Hum Genet 18:81-7. 2010..of 79 controls and 79 NF1 patients was investigated for methylation of mismatch repair genes MLH1, MSH2, MSH6, and PMS2 by methylation-specific PCR and pyrosequencing. MLH1, MSH6, and PMS2 promoters were not methylated...
- The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2E Kondo
Department of Molecular Pathology, Tohoku University School of Medicine, Sendai, Miyagi, 980 8575, Japan
Nucleic Acids Res 29:1695-702. 2001..Furthermore, we show that there is competition for the interacting domain in hMLH1 among the three other MutL homologues. Therefore, the quantitative balance of these three MutL heterodimers may be important in their functions...
- Microsatellite instability in hepatocellular carcinoma in non-cirrhotic liver in patients older than 60 yearsRoberto Togni
Department of Histopathology, Ospedale Santa Chiara, Largo Medaglie Oro 1 Trento, Italy
Hepatol Res 39:266-73. 2009..for mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MSH6) and post-meiotic segregation increased 2 (PMS2) was carried out on formalin-fixed and paraffin-embedded sections of tumor and background liver...
- Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from SpainTrinidad Caldes
Laboratory of Molecular Oncology, San Carlos University Hospital, Madrid, Spain
Int J Cancer 98:774-9. 2002..The underlying pathogenic mutation lies in 1 of the 5 known DNA MMR genes (MSH2, MLH1, PMS1, PMS2 and MSH6)...
- High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriersEli Marie Grindedal
Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet Medical Centre, Oslo, Norway
Fam Cancer 8:145-51. 2009..rates of endometrial cancer in women either having a mutation in one of the four MMR genes MLH1, MSH2, MSH6 or PMS2 (Mut+) or belonging to families meeting the revised Amsterdam criteria in which no MMR mutation was detected (Ams+)...
- Differences and evolution of the methods for the assessment of microsatellite instabilityL Laghi
Department of Gastroenterology, IRCCS Istituto Clinico Humanitas, Rozzano, Milano, Italy
Oncogene 27:6313-21. 2008..cancers, the MSI signature identifies hereditary cases arising in patients with germline mutations in hMLH1, hMSH2, PMS2 and a fraction of those with hMSH6 mutations, as well as sporadic cancers with epigenetic hMLH1 promoter ..
- The mammalian mismatch repair pathway removes DNA 8-oxodGMP incorporated from the oxidized dNTP poolClaudia Colussi
Laboratory of Comparative Toxicology and Ecotoxicology, Istituto Superiore di Sanita, Rome, Italy
Curr Biol 12:912-8. 2002Mismatch repair (MMR) corrects replication errors. It requires the MSH2, MSH6, MLH1, and PMS2 proteins which comprise the MutSalpha and MutLalpha heterodimers...
- Evidence for the lack of mismatch-repair directed antirecombination during mouse meiosisJ Qin
Molecular Biology Program, University of Southern California, 835 West 37th St, Los Angeles, CA 90089 1340, USA
J Hered 93:201-5. 2002Meiotic recombination was studied in DNA mismatch repair (MMR)-deficient mice using a strain carrying a Pms2 knockout mutation...
- Relationship between DNA mismatch repair genes expression, Ku-genes expression and ploidy-related parameters in the progression of pigmented lesions of the skinMonika Korabiowska
Department of Cytopathology, Department of Gastroenteropathology, Georg August University Gottingen, 37075 Gottingen, Germany
In Vivo 16:317-21. 2002Defects of DNA repair systems in cutaneous tumours are related to DNA mismatch repair genes (MLH1, MSH2, PMS1, PMS2) and Ku70/80 genes involved in double- strand repair...
- Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testingLiying Zhang
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
J Mol Diagn 10:301-7. 2008..repair genes mutL homolog 1 (MLH1) and mutS homolog 2 (MSH2), MSH6, and postmeiotic segregation increased 2 (PMS2) lead to the development of hereditary nonpolyposis colorectal cancer (HNPCC)...
- Alterations in PMS2, MSH2 and MLH1 expression in human prostate cancerYian Chen
Laboratory of Cancer Genomics, Hollings Cancer Center, Medical University of South Carolina, Charleston, SC 29425, USA
Int J Oncol 22:1033-43. 2003..paraffin-embedded human prostate tumors, showed reduction or absence of MMR protein expression (MLH1, MSH2, PMS2) in the epithelium of prostate tumor foci compared to normal adjacent prostate tissue...
- Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndromeS Gargiulo
Department of Oncology, Biology and Genetics, University of Genoa, 16132 Genoa, Italy
Fam Cancer 8:547-53. 2009..is an inherited cancer syndrome caused by germline mutations in mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. LS predisposes to high risk of early-onset colorectal, endometrial and other tumors...
- Immunohistochemistry staining for the mismatch repair proteins in the clinical care of patients with colorectal cancerChristopher D South
Division of Gastroenterology and Hepatology, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, USA OH 43221, USA
Genet Med 11:812-7. 2009..routinely performing immunohistochemical staining for the four mismatch repair proteins (MLH1, MSH2, MSH6, and PMS2) on all newly diagnosed patients with colorectal cancer...
- MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instabilityS M Lipkin
Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
Nat Genet 24:27-35. 2000..Functional redundancy among Mlh3, Pms1 and Pms2 may explain why neither Pms1 nor Pms2 mutant mice develop colon cancer, and why PMS1 and PMS2 mutations are only ..
- Native mass spectrometry provides direct evidence for DNA mismatch-induced regulation of asymmetric nucleotide binding in mismatch repair protein MutSMaria Chiara Monti
Biomolecular Mass Spectrometry and Proteomics Group, and Center for Biomedical Genetics, Bijvoet Center for Biomolecular Research and Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands
Nucleic Acids Res 39:8052-64. 2011..PNP cofactor. This is the first direct evidence for such a postulated mismatch repair intermediate, and showcases the potential of native MS analysis in detecting mechanistically relevant reaction intermediates...
- Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genesA K Win
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Melbourne School of Population Health, Level 3, 207 Bouverie Street, Parkville, Victoria 3010, Australia
Br J Cancer 105:162-9. 2011..We estimated an association between body mass index (BMI) in early adulthood and subsequent risk of CRC for carriers and, as a comparison, estimated the association for non-carriers...
- Absence of microsatellite instability in mucinous carcinomas of the breastMagali Lacroix-Triki
Molecular Pathology Team, The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, SW3 6JB, UK
Int J Clin Exp Pathol 4:22-31. 2010..The expression of four MSI markers (i.e. MSH2, MSH6, MLH1 and PMS2) was immunohistochemically assessed in 35 mucinous breast carcinomas and 35 histological grade- and oestrogen ..
- Bi-directional routing of DNA mismatch repair protein human exonuclease 1 to replication foci and DNA double strand breaksSascha E Liberti
Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
DNA Repair (Amst) 10:73-86. 2011..Our results reveal that protein domains in hEXO1 in conjunction with specific protein interactions control bi-directional routing of hEXO1 between on-going DNA replication and repair processes in living cells...
- Enhanced intestinal adenomatous polyp formation in Pms2-/-;Min miceS M Baker
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA
Cancer Res 58:1087-9. 1998..repair in intestinal tumorigenesis, we generated mice with mutations in both Apc and the DNA mismatch repair gene, Pms2. Whereas Pms2-deficient mice do not develop intestinal tumors, mice deficient in Pms2 and heterozygous for Min, an ..
- PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenanceJohanna M M van Oers
Department of Cell Biology, and Cancer Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Proc Natl Acad Sci U S A 107:13384-9. 2010The DNA mismatch repair protein PMS2 was recently found to encode a novel endonuclease activity. To determine the biological functions of this activity in mammals, we generated endonuclease-deficient Pms2E702K knock-in mice...
- Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2Craig MacKay
MRC Protein Phosphorylation Unit, College of Life Sciences, University of Dundee, Dundee DD1 5EH, Scotland, UK
Cell 142:65-76. 2010..Depletion of FAN1 from human cells causes hypersensitivity to ICLs, defects in ICL repair, and genome instability. These data at least partly explain how ubiquitination of FANCD2 promotes DNA repair...
- The relationship between serum vascular endothelial growth factor A and microsatellite instability in colorectal cancerT F Hansen
Department of Oncology, Danish Colorectal Cancer Group South, Vejle Hospital, Vejle, Denmark
Colorectal Dis 13:984-8. 2011..The aim of this study was to analyse the relationship between serum VEGF-A and the MSI status of patients with colorectal cancer (CRC)...
- Altered spectra of hypermutation in antibodies from mice deficient for the DNA mismatch repair protein PMS2D B Winter
Laboratory of Molecular Genetics, National Institute on Aging, National Institutes of Health, 5600 Nathan Shock Drive, Baltimore, MD 21224, USA
Proc Natl Acad Sci U S A 95:6953-8. 1998..was studied in mice deficient for either the DNA nucleotide excision repair gene Xpa or the mismatch repair gene Pms2. High levels of mutation were found in variable genes from XPA-deficient and PMS2-deficient mice, indicating that ..
- INHERITED MSH6 MUTATIONS IN DIVERSE COLORECTAL CANCERSSapna Syngal; Fiscal Year: 2004..Mutations in four mismatch repair genes (MSH2, MLH1, PMS1 and PMS2) have been identified primarily in families with hereditary nonpolyposis colorectal cancer (HNPCC) featuring high ..
- FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUPNoralane Lindor; Fiscal Year: 2007..products to other CFR sites for characterization of somatic MLH1 methylation\par and BRAF analysis, germline PMS2 and MYH mutations; 7) maintain local bioinformatics and data\par transmissions; 8) maintain necessary ..
- Understanding ceftazidime resistance in SHV B-LactamasesROBERT BONOMO; Fiscal Year: 2009..abstract_text> ..
- MOLECULAR BASIS OF IMMUNOGLOBULIN HEAVY CHAIN SWITCHJanet Stavnezer; Fiscal Year: 2004..group has recently determined that B cells from mice deficient in the mismatch repair (MMR) proteins, Msh2, Mlhl or Pms2, show a reduction in ability to undergo class switch recombination...
- Mammalian DNA Repair Proteins in Meiotic RecombinationPaula Cohen; Fiscal Year: 2007..Three of the four MutL homologs (MLH1, MLH3 and PMS2) that belong to this family are essential regulators of mammalian meiosis, with MLH 1 and MLH3 being the only ..
- LYMPHOMAGENESIS OF O6-METHYLGUANINEStanton Gerson; Fiscal Year: 2002..In the first Specific Aim, transgenic mice defective in one of two mismatch repair proteins, PMS2 or MSH2 will be treated with MNU and followed for induction of tumors...
- DNA Mismatch Repair and associated genes in suppression of GI adenomas and carcinSTEVEN MONROE LIPKIN; Fiscal Year: 2010..Briefly, mammalian MLH/PMS proteins heterodimerize to form three distinct complexes, MLH1/PMS1, MLH1/PMS2 and MLH1/MLH3. These complexes interact with MSH2/MSH6 and MSH2/MSH6 heterodimers...
- DNA replication, DNA repair and microsatellite stabilityKristin Eckert; Fiscal Year: 2009..The ex vivo shuttle vector system will be used in naturally occurring MLH1, PMS2, NBS1 and hMre11-defective lymphoblastoid cell lines, and in cells with gene expression down-regulated by antisense ..
- IMMUNITY IN TRANSGENIC MICEErik Selsing; Fiscal Year: 2010..If ? transgene translocations also do not involve AID then this would provide a convenient model system for genetic analyses of the sequences and proteins important for the IgH translocation process. ..
- IMMUNITY IN TRANSGENIC MICEErik Selsing; Fiscal Year: 2007..If ? transgene translocations also do not involve AID then this would provide a convenient model system for genetic analyses of the sequences and proteins important for the IgH translocation process. ..
- MISMATCH REPAIR PROTEIN, PMS2, AND GENETIC RECOMBINATIONSEAN BAKER; Fiscal Year: 2002..adapted from investigator's abstract: Male mice homozygous for a null mutation in the DNA mismatch repair gene, Pms2, are sterile and produce only abnormal spermatozoa...
- BACH1/FANCJ Checkpoint, Recombination, and ChemoresistanceSharon B Cantor; Fiscal Year: 2010..Recently, we established that both MMR proteins of the MutL1 complex (MLH1/PMS2) and BACH1/FANCJ (BRCA1-associated C- terminal helicase/Fanconi Anemia complementation group J) are required for ..
- BACH1/FANCJ Checkpoint, Recombination, and ChemoresistanceSharon Cantor; Fiscal Year: 2007..Recently, we established that both MMR proteins of the MutL1 complex (MLH1/PMS2) and BACH1/FANCJ (BRCA1-associated C- terminal helicase/Fanconi Anemia complementation group J) are required for ..
- MISMATCH REPAIR DEFECTS AND HUMAN TUMOR RADIOSENSITIZATITimothy Kinsella; Fiscal Year: 2003Mutations or loss of expression of DNA mismatch repair (MMR) genes especially MLH1, MSH2 and PMS2) have been found with an increasing frequency in many types of sporadic human colon cancers, along with the causal relationship previously ..
- MOLECULAR ANALYSES OF MLH3 NULL MICESteven Lipkin; Fiscal Year: 2003..genes associated with microsatellite instability have previously been described: MLH1, MSH2, MSH3, MSH6, PMS1, and PMS2. Each one of these genes is associated with genetic susceptibility to cancer in humans (specifically, Hereditary ..