Genomes and Genes
Experts and Doctors on dna mutational analysis in Oulu, Northern Ostrobothnia, Finland
Locale: Oulu, Northern Ostrobothnia, Finland
Topic: dna mutational analysis
- 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. ..
- 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. clinicaltrials.gov Identifier: NCT00116935. ..
- 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. ..
- 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...
- 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. ..
- 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...
- 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. ..
- 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. ..
- 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...
- 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. ..