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Select item 59210651.

Mutational Analysis of Mismatch Repair Genes, hMLH1 and hMSH2, in Sporadic Endometrial Carcinomas with Microsatellite Instability

Kanji Kobayashi, Mieko Matsushima, Sumiko Koi, Hiroko Saito, Satoru Sagae, Ryuichi Kudo, Yusuke Nakamura

Jpn J Cancer Res. 1996 Feb; 87(2): 141–145. doi: 10.1111/j.1349-7006.1996.tb03151.x

PMCID:: PMC5921065

Summary PDF–315K

Select item 56398292.

Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods

Sanjeevani Arora, Peter J. Huwe, Rahmat Sikder, Manali Shah, Amanda J. Browne, Randy Lesh, Emmanuelle Nicolas, Sanat Deshpande, Michael J. Hall, Roland L. Dunbrack, Jr., Erica A. Golemis

Cancer Biol Ther. 2017; 18(7): 519–533. Published online 2017 May 11. doi: 10.1080/15384047.2017.1326439

PMCID:: PMC5639829

Abstract Article PDF–1.5M

Select item 45289283.

Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome

Hong Wu, Hong Zeng, Robert Lam, Wolfram Tempel, Iain D. Kerr, Jinrong Min

Acta Crystallogr F Struct Biol Commun. 2015 Aug 1; 71(Pt 8): 981–985. Published online 2015 Jul 28. doi: 10.1107/S2053230X15010183

PMCID:: PMC4528928

Abstract Article PDF–499K

Select item 34339234.

Comparative Large Scale Characterization of Plant versus Mammal Proteins Reveals Similar and Idiosyncratic N-α-Acetylation Features

Willy V. Bienvenut, David Sumpton, Aude Martinez, Sergio Lilla, Christelle Espagne, Thierry Meinnel, Carmela Giglione

Mol Cell Proteomics. 2012 Jun; 11(6): M111.015131. Published online 2012 Jan 5. doi: 10.1074/mcp.M111.015131

PMCID:: PMC3433923

Abstract Article PDF–1.6M

Select item 30581335.

Verification of the Three-Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants

Minttu Kansikas, Reetta Kariola, Minna Nyström

Hum Mutat. 2011 Jan; 32(1): 107–115. Published online 2010 Nov 30. doi: 10.1002/humu.21409

PMCID:: PMC3058133

Abstract Article PDF–295K

Select item 30395706.

Initial characterization of the human central proteome

Thomas R Burkard, Melanie Planyavsky, Ines Kaupe, Florian P Breitwieser, Tilmann Bürckstümmer, Keiryn L Bennett, Giulio Superti-Furga, Jacques Colinge

BMC Syst Biol. 2011; 5: 17. Published online 2011 Jan 26. doi: 10.1186/1752-0509-5-17

PMCID:: PMC3039570

Abstract Article PDF–2.3M

Select item 29197437.

A genetic screen identifies FAN1, a Fanconi anemia associated nuclease necessary for DNA interstrand crosslink repair

Agata Smogorzewska, Rohini Desetty, Takamune T. Saito, Michael Schlabach, Francis P. Lach, Mathew E. Sowa, Alan B. Clark, Thomas A. Kunkel, J. Wade Harper, Monica P. Colaiácovo, Stephen J. Elledge

Mol Cell. Author manuscript; available in PMC 2011 Jul 9.

Published in final edited form as: Mol Cell. 2010 Jul 9; 39(1): 36–47. doi: 10.1016/j.molcel.2010.06.023

PMCID:: PMC2919743

Abstract Article PDF–2.9M

Select item 28201118.

Direct Visualization of Asymmetric Adenine Nucleotide-Induced Conformational Changes in MutLα

Elizabeth J Sacho, Farid A Kadyrov, Paul Modrich, Thomas A Kunkel, Dorothy A Erie

Mol Cell. Author manuscript; available in PMC 2010 Feb 10.

Published in final edited form as: Mol Cell. 2008 Jan 18; 29(1): 112. doi: 10.1016/j.molcel.2007.10.030

PMCID:: PMC2820111

Abstract Article PDF–2.2M

Select item 25048359.

A quantitative atlas of mitotic phosphorylation

Noah Dephoure, Chunshui Zhou, Judit Villén, Sean A. Beausoleil, Corey E. Bakalarski, Stephen J. Elledge, Steven P. Gygi

Proc Natl Acad Sci U S A. 2008 Aug 5; 105(31): 10762–10767. Published online 2008 Jul 31. doi: 10.1073/pnas.0805139105

PMCID:: PMC2504835

Abstract Article PDF–1.0M

Select item 237617210.

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

J J P Gille, F B L Hogervorst, G Pals, JTh Wijnen, R J van Schooten, C J Dommering, G A Meijer, M E Craanen, P M Nederlof, D de Jong, C J McElgunn, J P Schouten, F H Menko

Br J Cancer. 2002 Oct 7; 87(8): 892–897. Published online 2002 Oct 7. doi: 10.1038/sj.bjc.6600565

PMCID:: PMC2376172

Abstract Article PDF–180K

Select item 191489211.

The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.

B. Bapat, L. Xia, L. Madlensky, A. Mitri, P. Tonin, S. A. Narod, S. Gallinger

Am J Hum Genet. 1996 Sep; 59(3): 736–739.

PMCID:: PMC1914892

Summary Page Browse PDF–927K

Select item 191452612.

Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

J. Wijnen, P. M. Khan, H. Vasen, F. Menko, H. van der Klift, M. van den Broek, I. van Leeuwen-Cornelisse, F. Nagengast, E. J. Meijers-Heijboer, D. Lindhout, G. Griffioen, A. Cats, J. Kleibeuker, L. Varesco, L. Bertario, M. L. Bisgaard, J. Mohr, R. Kolodner, R. Fodde

Am J Hum Genet. 1996 Feb; 58(2): 300–307.

PMCID:: PMC1914526

Summary Page Browse PDF–1.4M

Select item 177314213.

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing

M Cravo, A J Afonso, P Lage, C Albuquerque, L Maia, C Lacerda, P Fidalgo, P Chaves, C Cruz, C Nobre-Leitão

Gut. 2002 Mar; 50(3): 405–412. doi: 10.1136/gut.50.3.405

PMCID:: PMC1773142

Abstract Article PDF–364K

Select item 173497214.

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States

G Kurzawski, J Suchy, J Kladny, K Safranow, A Jakubowska, P Elsakov, V Kucinskas, J Gardovski, A Irmejs, H Sibul, T Huzarski, T Byrski, T Debniak, C Cybulski, J Gronwald, O Oszurek, J Clark, S Gozdz, S Niepsuj, R Slomski, A Plawski, A Lacka-Wojciechows..., A Rozmiarek, L Fiszer-Maliszewsk..., M Bebenek, D Sorokin, M Stawicka, D Godlewski, P Richter, I Brozek, B Wysocka, A Jawien, Z Banaszkiewicz, J Kowalczyk, D Czudowska, P Goretzki, G Moeslein, J Lubinski

J Med Genet. 2002 Oct; 39(10): e65. doi: 10.1136/jmg.39.10.e65

PMCID:: PMC1734972

Summary PDF–186K

Select item 173463915.

Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients

M. MONTERA, N. RESTA, C. SIMONE, G. GUANTI, C. MARCHESE, S. CIVITELLI, A. MANCINI, S. POZZI, L. DE SALVO, D. BRUZZONE, A. DONADINI, L. ROMIO, C. MARENI

J Med Genet. 2000 Jul; 37(7): e7. doi: 10.1136/jmg.37.7.e7

Correction in:: J Med Genet. 2003 Jun; 40(6): 472.

PMCID:: PMC1734639

Summary PDF–141K

Select item 172755416.

Microsatellite instability—a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer

C Lamberti, R Kruse, C Ruelfs, R Caspari, Y Wang, M Jungck, M Mathiak, H Malayeri, W Friedl, T Sauerbruch, P Propping

Gut. 1999 Jun; 44(6): 839–843. doi: 10.1136/gut.44.6.839

PMCID:: PMC1727554

Summary PDF–104K

Select item 171590717.

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

J Wijnen, P M Khan, H Vasen, H van der Klift, A Mulder, I van Leeuwen-Cornelisse, B Bakker, M Losekoot, P Møller, R Fodde

Am J Hum Genet. 1997 Aug; 61(2): 329–335. doi: 10.1086/514847

PMCID:: PMC1715907

Summary Page Browse PDF–1.1M

Select item 143538118.

HUMAN MISMATCH REPAIR: RECONSTITUTION OF A NICK-DIRECTED BIDIRECTIONAL REACTION

Nicoleta Constantin, Leonid Dzantiev, Farid A. Kadyrov, Paul Modrich

J Biol Chem. Author manuscript; available in PMC 2006 Dec 2.

Published in final edited form as: J Biol Chem. 2005 Dec 2; 280(48): 39752–39761. Published online 2005 Sep 27. doi: 10.1074/jbc.M509701200

PMCID:: PMC1435381

Abstract Article PDF–818K

Select item 137738519.

Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.

S M Farrington, J Lin-Goerke, J Ling, Y Wang, J D Burczak, D J Robbins, M G Dunlop

Am J Hum Genet. 1998 Sep; 63(3): 749–759. doi: 10.1086/301996

PMCID:: PMC1377385

Abstract

Select item 118026320.

Molecular Analysis of Hereditary Nonpolyposis Colorectal Cancer in the United States: High Mutation Detection Rate among Clinically Selected Families and Characterization of an American Founder Genomic Deletion of the MSH2 Gene

Anja Wagner, Alicia Barrows, Juul Th. Wijnen, Heleen van der Klift, Patrick F. Franken, Paul Verkuijlen, Hidewaki Nakagawa, Marjan Geugien, Shantie Jaghmohan-Changur, Cor Breukel, Hanne Meijers-Heijboer, Hans Morreau, Marjo van Puijenbroek, John Burn, Stephany Coronel, Yulia Kinarski, Ross Okimoto, Patrice Watson, Jane F. Lynch, Albert de la Chapelle, Henry T. Lynch, Riccardo Fodde

Am J Hum Genet. 2003 May; 72(5): 1088–1100. Published online 2003 Mar 25. doi: 10.1086/373963

PMCID:: PMC1180263

Abstract Article PDF–290K

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