Lohi H - Search Results

1

Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer.

Renkonen E, Zhang Y, Lohi H, Salovaara R, Abdel-Rahman WM, Nilbert M, Aittomaki K, Jarvinen HJ, Mecklin JP, Lindblom A, Peltomaki P. Renkonen E, et al. Among authors: lohi h. J Clin Oncol. 2003 Oct 1;21(19):3629-37. doi: 10.1200/JCO.2003.03.181. J Clin Oncol. 2003. PMID: 14512394

2

Restoring mismatch repair does not stop the formation of reciprocal translocations in the colon cancer cell line HCA7 but further destabilizes chromosome number.

Abdel-Rahman WM, Lohi H, Knuutila S, Peltomäki P. Abdel-Rahman WM, et al. Among authors: lohi h. Oncogene. 2005 Jan 20;24(4):706-13. doi: 10.1038/sj.onc.1208129. Oncogene. 2005. PMID: 15580308

3

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.

Nieminen TT, O'Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin JP, Järvinen HJ, Gleizes PE, Peltomäki P. Nieminen TT, et al. Among authors: lohi h. Gastroenterology. 2014 Sep;147(3):595-598.e5. doi: 10.1053/j.gastro.2014.06.009. Epub 2014 Jun 15. Gastroenterology. 2014. PMID: 24941021 Free PMC article.

4

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomäki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nyström M. Raevaara TE, et al. Among authors: lohi h. Gastroenterology. 2005 Aug;129(2):537-49. doi: 10.1016/j.gastro.2005.06.005. Gastroenterology. 2005. PMID: 16083711

5

Conditional nuclear localization of hMLH3 suggests a minor activity in mismatch repair and supports its role as a low-risk gene in HNPCC.

Korhonen MK, Raevaara TE, Lohi H, Nyström M. Korhonen MK, et al. Among authors: lohi h. Oncol Rep. 2007 Feb;17(2):351-4. Oncol Rep. 2007. PMID: 17203173

6

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. Siintola E, et al. Among authors: lohi h. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 May 14. Am J Hum Genet. 2007. PMID: 17564970 Free PMC article.

7

Genome-wide association study identifies a novel canine glaucoma locus.

Ahonen SJ, Pietilä E, Mellersh CS, Tiira K, Hansen L, Johnson GS, Lohi H. Ahonen SJ, et al. Among authors: lohi h. PLoS One. 2013 Aug 7;8(8):e70903. doi: 10.1371/journal.pone.0070903. eCollection 2013. PLoS One. 2013. PMID: 23951034 Free PMC article.

8

A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.

Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. Kyöstilä K, et al. Among authors: lohi h. PLoS Genet. 2012;8(6):e1002759. doi: 10.1371/journal.pgen.1002759. Epub 2012 Jun 14. PLoS Genet. 2012. PMID: 22719266 Free PMC article.

9

A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.

Ahonen SJ, Arumilli M, Lohi H. Ahonen SJ, et al. Among authors: lohi h. PLoS One. 2013 Aug 28;8(8):e72122. doi: 10.1371/journal.pone.0072122. eCollection 2013. PLoS One. 2013. PMID: 24015210 Free PMC article.

10

Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA. Lohi H, et al. Neurology. 2007 Mar 27;68(13):996-1001. doi: 10.1212/01.wnl.0000258561.02248.2f. Neurology. 2007. PMID: 17389303

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