{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T01:36:08Z","timestamp":1721180168849},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1007\/s10689-012-9558-y","type":"journal-article","created":{"date-parts":[[2012,7,31]],"date-time":"2012-07-31T10:23:01Z","timestamp":1343730181000},"page":"675-680","source":"Crossref","is-referenced-by-count":2,"title":["Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment"],"prefix":"10.1007","volume":"11","author":[{"given":"Laura","family":"Belvederesi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristian","family":"Loretelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella","family":"Bracci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Cascinu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riccardo","family":"Cellerino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,8,1]]},"reference":[{"key":"9558_CR1","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1056\/NEJMra012242","volume":"348","author":"HT Lynch","year":"2003","unstructured":"Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919\u2013932","journal-title":"N Engl J Med"},{"key":"9558_CR2","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s10689-004-7993-0","volume":"4","author":"P Peltom\u00e4ki","year":"2005","unstructured":"Peltom\u00e4ki P (2005) Lynch syndrome genes. Fam Cancer 4:227\u2013232","journal-title":"Fam Cancer"},{"key":"9558_CR3","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1155\/2004\/305058","volume":"20","author":"P Peltom\u00e4ki","year":"2004","unstructured":"Peltom\u00e4ki P, Vasen H (2004) Mutations associated with HNPCC predisposition\u2014update of ICG-HNPCC\/INSiGHT mutation database. Dis Markers 20:269\u2013276","journal-title":"Dis Markers"},{"key":"9558_CR4","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1002\/humu.20580","volume":"28","author":"J Ou","year":"2007","unstructured":"Ou J, Niessen RC, L\u00fctzen A et al (2007) Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. Hum Mutat 28:1047\u20131054","journal-title":"Hum Mutat"},{"key":"9558_CR5","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/humu.20502","volume":"28","author":"MO Woods","year":"2007","unstructured":"Woods MO, Williams P, Careen A et al (2007) A new variant database for mismatch repair genes associated with Lynch syndrome. Hum Mutat 28:669\u2013673","journal-title":"Hum Mutat"},{"key":"9558_CR6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1136\/gut.50.3.405","volume":"50","author":"M Cravo","year":"2002","unstructured":"Cravo M, Afonso AJ, Lage P (2002) Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. Gut 50:405\u2013412","journal-title":"Gut"},{"key":"9558_CR7","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/s10689-009-9274-4","volume":"8","author":"LL Christensen","year":"2009","unstructured":"Christensen LL, Kariola R, Korhonen MK et al (2009) Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients. Fam Cancer 8:489\u2013500","journal-title":"Fam Cancer"},{"key":"9558_CR8","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1053\/gast.2002.30296","volume":"122","author":"J Trojan","year":"2002","unstructured":"Trojan J, Zeuzem S, Randolph A et al (2002) Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. Gastroenterology 122:211\u2013219","journal-title":"Gastroenterology"},{"key":"9558_CR9","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/humu.20635","volume":"29","author":"RA Barnetson","year":"2008","unstructured":"Barnetson RA, Cartwright N, van Vliet A et al (2008) Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. Hum Mutat 29:367\u2013374","journal-title":"Hum Mutat"},{"key":"9558_CR10","first-page":"5068","volume":"59","author":"RD Kolodner","year":"1999","unstructured":"Kolodner RD, Tytell JD, Schmeits JL et al (1999) Germ-line msh6 mutations in colorectal cancer families. Cancer Res 59:5068\u20135074","journal-title":"Cancer Res"},{"key":"9558_CR11","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1093\/hmg\/11.11.1303","volume":"11","author":"R Kariola","year":"2002","unstructured":"Kariola R, Raevaara TE, L\u00f6nnqvist KE et al (2002) Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. Hum Mol Genet 11:1303\u20131310","journal-title":"Hum Mol Genet"},{"key":"9558_CR12","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1038\/sj.bjc.6602129","volume":"91","author":"R Kariola","year":"2004","unstructured":"Kariola R, Hampel H, Frankel WL et al (2004) MSH6 missense mutations are often associated with no or low cancer susceptibility. Br J Cancer 91:1287\u20131292","journal-title":"Br J Cancer"},{"key":"9558_CR13","doi-asserted-by":"crossref","first-page":"31641","DOI":"10.1074\/jbc.M806018200","volume":"283","author":"JL Cyr","year":"2009","unstructured":"Cyr JL, Heinen CD (2009) Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. J Biol Chem 283:31641\u201331648","journal-title":"J Biol Chem"},{"key":"9558_CR14","doi-asserted-by":"crossref","first-page":"2609","DOI":"10.1093\/nar\/gkl1166","volume":"35","author":"N\u00d8 Knudsen","year":"2007","unstructured":"Knudsen N\u00d8, Nielsen FC, Vinther L et al (2007) Nuclear localization of human DNA mismatch repair protein exonuclease 1 (hEXO1). Nucleic Acids Res 35:2609\u20132619","journal-title":"Nucleic Acids Res"},{"key":"9558_CR15","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/nrm2114","volume":"8","author":"M Stewart","year":"2007","unstructured":"Stewart M (2007) Molecular mechanism of the nuclear protein import cycle. Nat Rev Mol Cell Biol 8:195\u2013208","journal-title":"Nat Rev Mol Cell Biol"},{"key":"9558_CR16","doi-asserted-by":"crossref","first-page":"3320","DOI":"10.1128\/MCB.23.9.3320-3328.2003","volume":"23","author":"X Wu","year":"2003","unstructured":"Wu X, Platt JL, Cascalho M (2003) Dimerization of MLH1 and PMS2 limits nuclear localization of MutLalpha. Mol Cell Biol 23:3320\u20133328","journal-title":"Mol Cell Biol"},{"key":"9558_CR17","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/mc.20081","volume":"43","author":"A Brieger","year":"2005","unstructured":"Brieger A, Plotz G, Raedle J et al (2005) Characterization of the nuclear import of human MutL\u03b1. Mol Carcinog 43:51\u201358","journal-title":"Mol Carcinog"},{"key":"9558_CR18","first-page":"351","volume":"17","author":"MK Korhonen","year":"2007","unstructured":"Korhonen MK, Raevaara TE, Lohi H et al (2007) Conditional nuclear localization of hMLH3 suggests a minor activity in mismatch repair and supports its role as a low-risk gene in HNPCC. Oncol Rep 17:351\u2013354","journal-title":"Oncol Rep"},{"key":"9558_CR19","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1016\/j.dnarep.2009.03.005","volume":"8","author":"N\u00d8 Knudsen","year":"2009","unstructured":"Knudsen N\u00d8, Andersen SD, L\u00fctzen A et al (2009) Nuclear translocation contributes to regulation of DNA excision repair activities. DNA Repair 8:682\u2013689","journal-title":"DNA Repair"},{"key":"9558_CR20","doi-asserted-by":"crossref","first-page":"36256","DOI":"10.1074\/jbc.M005377200","volume":"275","author":"M Christmann","year":"2000","unstructured":"Christmann M, Kaina B (2000) Nuclear translocation of mismatch repair proteins MSH2 and MSH6 as a response of cells to alkylating agents. J Biol Chem 275:36256\u201336262","journal-title":"J Biol Chem"},{"key":"9558_CR21","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/j.dnarep.2009.02.003","volume":"8","author":"AP Hayes","year":"2009","unstructured":"Hayes AP, Sevi LA, Feldt MC (2009) Reciprocal regulation of nuclear import of the yeast MutSalpha DNA mismatch repair proteins Msh2 and Msh6. DNA Repair 8:739\u2013751","journal-title":"DNA Repair"},{"key":"9558_CR22","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.mrfmmm.2008.08.015","volume":"645","author":"A L\u00fctzen","year":"2008","unstructured":"L\u00fctzen A, de Wind N, Georgijevic D et al (2008) Functional analysis of HNPCC-related missense mutations in MSH2. Mutat Res 645:44\u201355","journal-title":"Mutat Res"},{"key":"9558_CR23","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073\u20131081","journal-title":"Nat Protoc"},{"key":"9558_CR24","doi-asserted-by":"crossref","first-page":"4673","DOI":"10.1093\/nar\/22.22.4673","volume":"22","author":"JD Thompson","year":"1994","unstructured":"Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673\u20134680","journal-title":"Nucleic Acids Res"},{"key":"9558_CR25","first-page":"537","volume":"129","author":"TE Raevaara","year":"2005","unstructured":"Raevaara TE, Korhonen MK, Lohi H et al (2005) Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129:537\u2013549","journal-title":"Gastroenterology"},{"key":"9558_CR26","doi-asserted-by":"crossref","first-page":"W585","DOI":"10.1093\/nar\/gkm259","volume":"35","author":"P Horton","year":"2007","unstructured":"Horton P, Park KJ, Obayashi T et al (2007) WoLF PSORT: protein localization predictor. Nucleic Acids Res 35:W585\u2013W587","journal-title":"Nucleic Acids Res"},{"key":"9558_CR27","doi-asserted-by":"crossref","first-page":"E296","DOI":"10.1002\/humu.20875","volume":"29","author":"L Belvederesi","year":"2008","unstructured":"Belvederesi L, Bianchi F, Galizia E et al (2008) MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. Hum Mutat 29:E296\u2013E309","journal-title":"Hum Mutat"},{"key":"9558_CR28","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/S1535-6108(02)00073-9","volume":"1","author":"CD Heinen","year":"2002","unstructured":"Heinen CD, Wilson T, Mazurek A et al (2002) HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. Cancer Cell 1:469\u2013478","journal-title":"Cancer Cell"},{"key":"9558_CR29","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0022-2836(03)00694-6","volume":"331","author":"AW Kijas","year":"2003","unstructured":"Kijas AW, Studamire B, Alani E (2003) Msh2 separation of function mutations confer defects in the initiation steps of mismatch repair. J Mol Biol 331:123\u2013138","journal-title":"J Mol Biol"},{"key":"9558_CR30","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1021\/cr0404794","volume":"106","author":"RR Iyer","year":"2006","unstructured":"Iyer RR, Pluciennik A, Burdett V et al (2006) DNA mismatch repair: functions and mechanisms. Chem Rev 106:302\u2013323","journal-title":"Chem Rev"},{"key":"9558_CR31","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1111\/j.1742-4658.2006.05190.x","volume":"273","author":"SH Jun","year":"2006","unstructured":"Jun SH, Kim TG, Ban C (2006) DNA mismatch repair system. Classical and fresh roles. FEBS J 273:1609\u20131619","journal-title":"FEBS J"},{"key":"9558_CR32","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/s00439-005-0118-5","volume":"119","author":"RC Niessen","year":"2006","unstructured":"Niessen RC, Sijmons RH, Ou J et al (2006) MUTYH and the mismatch repair system: partners in crime? Hum Genet 119:206\u2013211","journal-title":"Hum Genet"},{"key":"9558_CR33","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1086\/337944","volume":"70","author":"MJ Berends","year":"2002","unstructured":"Berends MJ, Wu Y, Sijmons RH et al (2002) Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet 70:26\u201337","journal-title":"Am J Hum Genet"},{"key":"9558_CR34","doi-asserted-by":"crossref","first-page":"6853","DOI":"10.1158\/1078-0432.CCR-05-0726","volume":"11","author":"MO Woods","year":"2005","unstructured":"Woods MO, Hyde AJ, Curtis FK et al (2005) High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. Clin Cancer Res 11:6853\u20136861","journal-title":"Clin Cancer Res"},{"key":"9558_CR35","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1093\/jnci\/91.14.1221","volume":"91","author":"TL Chan","year":"1999","unstructured":"Chan TL, Yuen ST, Chung LP et al (1999) Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. J Natl Cancer Inst 91:1221\u20131226","journal-title":"J Natl Cancer Inst"},{"key":"9558_CR36","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s00439-002-0866-4","volume":"112","author":"R Kariola","year":"2003","unstructured":"Kariola R, Otway R, L\u00f6nnqvist KE et al (2003) Two mismatch repair gene mutations found in a colon cancer patient\u2014which one is pathogenic? Hum Genet 112:105\u2013109","journal-title":"Hum Genet"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-012-9558-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-012-9558-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-012-9558-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T17:46:08Z","timestamp":1559238368000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-012-9558-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,1]]},"references-count":36,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["9558"],"URL":"https:\/\/doi.org\/10.1007\/s10689-012-9558-y","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,1]]}}}