Experts and Doctors on dna mutational analysis in Oulu, Northern Ostrobothnia, Finland


Locale: Oulu, Northern Ostrobothnia, Finland
Topic: dna mutational analysis

Top Publications

  1. Allinen M, Peri L, Kujala S, Lahti Domenici J, Outila K, Karppinen S, et al. Analysis of 11q21-24 loss of heterozygosity candidate target genes in breast cancer: indications of TSLC1 promoter hypermethylation. Genes Chromosomes Cancer. 2002;34:384-9 pubmed
    ..Thus, as has been shown in lung and some other forms of cancer, hypermethylation of the TSLC1 promoter region is also frequently a second hit along with LOH in breast cancer. ..
  2. Heikkinen K, Mansikka V, Karppinen S, Rapakko K, Winqvist R. Mutation analysis of the ATR gene in breast and ovarian cancer families. Breast Cancer Res. 2005;7:R495-501 pubmed
    ..The present study does not support a major role for ATR mutations in hereditary susceptibility to breast and ovarian cancer. ..
  3. Karppinen J, Daavittila I, Noponen N, Haapea M, Taimela S, Vanharanta H, et al. Is the interleukin-6 haplotype a prognostic factor for sciatica?. Eur J Pain. 2008;12:1018-25 pubmed publisher
    ..The IL6 haplotype GGGA predicted the number of days with back or leg pain and also sickness absence. Subjects with the IL6 haplotype may be more vulnerable when doing physically demanding jobs. ..
  4. Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet P, et al. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet. 1999;64:51-61 pubmed
    ..These patients may have mutations elsewhere in the promoter, in intron areas, or in a gene encoding another protein that interacts with nephrin. ..
  5. Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, et al. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis. 2016;39:243-52 pubmed publisher
  6. Czarny Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, et al. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet. 2001;69:969-80 pubmed
    ..The results show that mutations in COL9A1 can cause MED, but they also suggest that mutations in COL9A1, COL9A2, COL9A3, COMP, and DTDST are not the major causes of MED and that there exists at least one additional locus. ..
  7. Jakkula E, Makitie O, Czarny Ratajczak M, Czarny Ratacjzak M, Jackson G, Damignani R, et al. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet. 2005;13:292-301 pubmed
    ..The existence of additional MED loci is supported by the exclusion of known loci by mutation analysis and finding of specific subgroups among these patients. ..
  8. Vuorela M, Pylkäs K, Winqvist R. Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families. BMC Med Genet. 2011;12:98 pubmed publisher
    ..The present data suggest that mutations in RNF8, UBC13 and MMS2 genes unlikely make any sizeable contribution to breast cancer predisposition in Northern Finland. ..
  9. Solyom S, Pylkäs K, Winqvist R. Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families. Fam Cancer. 2010;9:537-40 pubmed publisher
    ..To our knowledge, this is the first attempt to determine the existence of large CHK1 deletions in familial breast cancer or in any disease with a hereditary background. ..

More Information


  1. Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, et al. ERCC6 founder mutation identified in Finnish patients with COFS syndrome. Clin Genet. 2010;78:541-7 pubmed publisher
    ..Genealogical investigation showed a common ancestor living in a northeastern village in Finland in the 18th century for all six patients implying a founder effect. ..
  2. Joensuu H, Wardelmann E, Sihto H, Eriksson M, Sundby Hall K, Reichardt A, et al. Effect of KIT and PDGFRA Mutations on Survival in Patients With Gastrointestinal Stromal Tumors Treated With Adjuvant Imatinib: An Exploratory Analysis of a Randomized Clinical Trial. JAMA Oncol. 2017;3:602-609 pubmed publisher
    ..The duration of adjuvant imatinib modifies the risk of GIST recurrence associated with some KIT mutations, including deletions that affect exon 11 codons 557 and/or 558. Identifier: NCT00116935. ..
  3. Mahjneh I, Bashir R, Kiuru Enari S, Linssen W, Lamminen A, Visser M. Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. Neuromuscul Disord. 2012;22 Suppl 2:S130-6 pubmed publisher
  4. Kaivorinne A, Kruger J, Udd B, Majamaa K, Remes A. Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients. Eur J Neurol. 2010;17:1393-5 pubmed publisher
    ..MAPT and PGRN mutations are also rare in Finnish population, suggesting that other, still unknown genetic factors may play a role in the pathogenesis of FTLD in Finnish population. ..
  5. Leskelä H, Kuorilehto T, Risteli J, Koivunen J, Nissinen M, Peltonen S, et al. Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. Bone. 2009;44:243-50 pubmed publisher
    ..The molecular pathogenesis of NF1-related PA apparently may not be entirely explained by second mutations or loss of heterozygosity of the NF1 gene...
  6. Pylkäs K, Erkko H, Nikkilä J, Solyom S, Winqvist R. Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families. BMC Cancer. 2008;8:146 pubmed publisher
    ..On the contrary, the genomic rearrangements in PALB2 seem not to contribute to the hereditary breast cancer susceptibility. ..
  7. Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Roytta M, et al. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia. 2008;49:1038-45 pubmed publisher
    ..Here we studied the molecular etiology of juvenile-onset AHS manifesting with status epilepticus and liver disease in three teenagers...
  8. Majava M, Bishop P, Hägg P, Scott P, Rice A, Inglehearn C, et al. Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia. Hum Mutat. 2007;28:336-44 pubmed
    ..This study provides new insight into the genetics of high myopia, suggesting that sequence variations in the SLRP genes expressed in the eye may be among the genetic risk factors underlying the pathogenesis of high myopia. ..
  9. Paassilta P, Lohiniva J, Göring H, Perala M, Räinä S, Karppinen J, et al. Identification of a novel common genetic risk factor for lumbar disk disease. JAMA. 2001;285:1843-9 pubmed
    ..Presence of at least 1 Trp3 allele increases risk of LDD about 3-fold. This study led to the identification of a novel common genetic risk factor for LDD, confirming that genetic risk factors likely play a significant role in LDD. ..
  10. Martin P, Heiskari N, Pajari H, Gronhagen Riska C, Kaariainen H, Koskimies O, et al. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. Hum Mutat. 2000;15:579 pubmed
    ..Three of the mutations were potential splicing mutations, two of which were studied at the mRNA level. Seven of the mutations were single base substitutions, and two were deletions. In five families, no mutations were found...
  11. Annunen S, Korkko J, Czarny M, Warman M, Brunner H, Kaariainen H, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999;65:974-83 pubmed
    ..Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome. Some patients, however, presented with phenotypes of both Marshall and Stickler syndromes. ..