Kariola R - Search Results

1

MSH6 missense mutations are often associated with no or low cancer susceptibility.

Kariola R, Hampel H, Frankel WL, Raevaara TE, de la Chapelle A, Nyström-Lahti M. Kariola R, et al. Br J Cancer. 2004 Oct 4;91(7):1287-92. doi: 10.1038/sj.bjc.6602129. Br J Cancer. 2004. PMID: 15354210 Free PMC article.

2

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.

Kariola R, Raevaara TE, Lönnqvist KE, Nyström-Lahti M. Kariola R, et al. Hum Mol Genet. 2002 May 15;11(11):1303-10. doi: 10.1093/hmg/11.11.1303. Hum Mol Genet. 2002. PMID: 12019211

3

Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

Kariola R, Otway R, Lönnqvist KE, Raevaara TE, Macrae F, Vos YJ, Kohonen-Corish M, Hofstra RM, Nyström-Lahti M. Kariola R, et al. Hum Genet. 2003 Feb;112(2):105-9. doi: 10.1007/s00439-002-0866-4. Epub 2002 Nov 21. Hum Genet. 2003. PMID: 12522549

4

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

Raevaara TE, Gerdes AM, Lönnqvist KE, Tybjaerg-Hansen A, Abdel-Rahman WM, Kariola R, Peltomäki P, Nyström-Lahti M. Raevaara TE, et al. Among authors: kariola r. Genes Chromosomes Cancer. 2004 Jul;40(3):261-5. doi: 10.1002/gcc.20040. Genes Chromosomes Cancer. 2004. PMID: 15139004

5

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.

Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomäki P, Mangold E, de la Chapelle A, Greenblatt M, Nyström M. Ollila S, et al. Among authors: kariola r. Gastroenterology. 2006 Nov;131(5):1408-17. doi: 10.1053/j.gastro.2006.08.044. Epub 2006 Aug 22. Gastroenterology. 2006. PMID: 17101317

6

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein.

Raevaara TE, Vaccaro C, Abdel-Rahman WM, Mocetti E, Bala S, Lönnqvist KE, Kariola R, Lynch HT, Peltomäki P, Nyström-Lahti M. Raevaara TE, et al. Among authors: kariola r. Gastroenterology. 2003 Aug;125(2):501-9. doi: 10.1016/s0016-5085(03)00905-3. Gastroenterology. 2003. PMID: 12891553

7

Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.

Abdel-Rahman WM, Ollikainen M, Kariola R, Järvinen HJ, Mecklin JP, Nyström-Lahti M, Knuutila S, Peltomäki P. Abdel-Rahman WM, et al. Among authors: kariola r. Oncogene. 2005 Feb 24;24(9):1542-51. doi: 10.1038/sj.onc.1208387. Oncogene. 2005. PMID: 15674332

8

The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC.

Ollila S, Fitzpatrick R, Sarantaus L, Kariola R, Ambus I, Velsher L, Hsieh E, Andersen MK, Raevaara TE, Gerdes AM, Mangold E, Peltomäki P, Lynch HT, Nyström M. Ollila S, et al. Among authors: kariola r. Int J Oncol. 2006 Jan;28(1):149-53. Int J Oncol. 2006. PMID: 16327991

9

Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

Kantelinen J, Kansikas M, Candelin S, Hampel H, Smith B, Holm L, Kariola R, Nyström M. Kantelinen J, et al. Among authors: kariola r. Hum Mutat. 2012 Aug;33(8):1294-301. doi: 10.1002/humu.22119. Epub 2012 Jun 11. Hum Mutat. 2012. PMID: 22581703 Free PMC article.

10

MutSbeta exceeds MutSalpha in dinucleotide loop repair.

Kantelinen J, Kansikas M, Korhonen MK, Ollila S, Heinimann K, Kariola R, Nyström M. Kantelinen J, et al. Among authors: kariola r. Br J Cancer. 2010 Mar 16;102(6):1068-73. doi: 10.1038/sj.bjc.6605531. Epub 2010 Feb 16. Br J Cancer. 2010. PMID: 20160730 Free PMC article.

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