Knuutila Sakari

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. pmc Down-regulation of miR-181c in imatinib-resistant chronic myeloid leukemia
    Neda Mosakhani
    Department of Pathology, Haartman Institute, and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Mol Cytogenet 6:27. 2013
  2. pmc DNA copy number changes in young gastric cancer patients with special reference to chromosome 19
    A Varis
    Departments of Pathology and Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, POB 400 Haartmaninkatu 3, 4th Floor, FIN 00029 HUS, Helsinki, Finland
    Br J Cancer 88:1914-9. 2003
  3. pmc Targeted resequencing reveals ALK fusions in non-small cell lung carcinomas detected by FISH, immunohistochemistry, and real-time RT-PCR: a comparison of four methods
    Katja Tuononen
    Department of Pathology, Haartman Institute, University of Helsinki, P O Box 21 Haartmaninkatu 3, 00014 Helsinki, Finland
    Biomed Res Int 2013:757490. 2013
  4. pmc High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results
    Linda Siggberg
    Department of Pathology, Haartman Institute, University of Helsinki, Finland
    BMC Med Genet 13:84. 2012
  5. pmc An integrated analysis of miRNA and gene copy numbers in xenografts of Ewing's sarcoma
    Neda Mosakhani
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    J Exp Clin Cancer Res 31:24. 2012
  6. pmc 9q22 Deletion--first familial case
    Linda Siggberg
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Haartmaninkatu 3, 00014 Helsinki, Finland
    Orphanet J Rare Dis 6:45. 2011
  7. pmc Gene expression profiles in asbestos-exposed epithelial and mesothelial lung cell lines
    Penny Nymark
    Health and Work Ability, Biological Mechanisms and Prevention of Work related Diseases, Finnish Institute of Occupational Health, Helsinki, Finland
    BMC Genomics 8:62. 2007
  8. pmc Distinct differentiation characteristics of individual human embryonic stem cell lines
    Milla Mikkola
    Program of Developmental and Reproductive Biology, Biomedicum Helsinki, PO Box 63, 00014 University of Helsinki, Helsinki, Finland
    BMC Dev Biol 6:40. 2006
  9. pmc Combined use of expression and CGH arrays pinpoints novel candidate genes in Ewing sarcoma family of tumors
    Suvi Savola
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki, Helsinki, Finland
    BMC Cancer 9:17. 2009
  10. pmc Recurrent and multiple bladder tumors show conserved expression profiles
    David Lindgren
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    BMC Cancer 8:183. 2008

Detail Information

Publications122 found, 100 shown here

  1. pmc Down-regulation of miR-181c in imatinib-resistant chronic myeloid leukemia
    Neda Mosakhani
    Department of Pathology, Haartman Institute, and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Mol Cytogenet 6:27. 2013
    ..Significant down-regulation of miR-181c in imatinib-resistant versus imatinib-responders was confirmed by qRT-PCR. Some miR-181c target genes such as PBX3, HSP90B1, NMT2 and RAD21 have been associated with drug response. ..
  2. pmc DNA copy number changes in young gastric cancer patients with special reference to chromosome 19
    A Varis
    Departments of Pathology and Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, POB 400 Haartmaninkatu 3, 4th Floor, FIN 00029 HUS, Helsinki, Finland
    Br J Cancer 88:1914-9. 2003
    ..Further studies are required to investigate the biological and clinical significance of 19q amplicon and cyclin E upregulation in gastric cancer of young patients...
  3. pmc Targeted resequencing reveals ALK fusions in non-small cell lung carcinomas detected by FISH, immunohistochemistry, and real-time RT-PCR: a comparison of four methods
    Katja Tuononen
    Department of Pathology, Haartman Institute, University of Helsinki, P O Box 21 Haartmaninkatu 3, 00014 Helsinki, Finland
    Biomed Res Int 2013:757490. 2013
    ..Targeted resequencing proved to be a promising method for ALK gene fusion detection in NSCLC. Means to reduce the material and turnaround time required for analysis are, however, needed...
  4. pmc High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results
    Linda Siggberg
    Department of Pathology, Haartman Institute, University of Helsinki, Finland
    BMC Med Genet 13:84. 2012
    ..Array methods that facilitate copy number analysis have enabled the diagnosis of up to 20% more patients with previously normal karyotyping results. A substantial number of patients remain undiagnosed, however...
  5. pmc An integrated analysis of miRNA and gene copy numbers in xenografts of Ewing's sarcoma
    Neda Mosakhani
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    J Exp Clin Cancer Res 31:24. 2012
    ..Xenografts have been shown to provide a suitable source of tumor tissue for molecular analysis in the absence of primary tumor material. We utilized ES xenograft series for integrated microarray analyses to identify novel biomarkers...
  6. pmc 9q22 Deletion--first familial case
    Linda Siggberg
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Haartmaninkatu 3, 00014 Helsinki, Finland
    Orphanet J Rare Dis 6:45. 2011
    ..Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309)...
  7. pmc Gene expression profiles in asbestos-exposed epithelial and mesothelial lung cell lines
    Penny Nymark
    Health and Work Ability, Biological Mechanisms and Prevention of Work related Diseases, Finnish Institute of Occupational Health, Helsinki, Finland
    BMC Genomics 8:62. 2007
    ..A canonical correlation analysis was applied to identify correlations between the cell lines, and a Gene Ontology analysis method for the identification of enriched, differentially expressed biological processes...
  8. pmc Distinct differentiation characteristics of individual human embryonic stem cell lines
    Milla Mikkola
    Program of Developmental and Reproductive Biology, Biomedicum Helsinki, PO Box 63, 00014 University of Helsinki, Helsinki, Finland
    BMC Dev Biol 6:40. 2006
    ..Here, we describe the derivation of five hESC lines (called FES 21, 22, 29, 30 and 61) from frozen-thawed human embryos and compare their individual differentiation characteristic...
  9. pmc Combined use of expression and CGH arrays pinpoints novel candidate genes in Ewing sarcoma family of tumors
    Suvi Savola
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki, Helsinki, Finland
    BMC Cancer 9:17. 2009
    ..Our genome-wide high-resolution analysis aspired to pinpoint genomic regions of highest interest and possible target genes in these areas...
  10. pmc Recurrent and multiple bladder tumors show conserved expression profiles
    David Lindgren
    Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
    BMC Cancer 8:183. 2008
    ..Consequently, genetically less evolved tumors may appear chronologically later than genetically related but more evolved tumors...
  11. pmc CGHpower: exploring sample size calculations for chromosomal copy number experiments
    Ilari Scheinin
    Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands
    BMC Bioinformatics 11:331. 2010
    ..Several approaches for sample size determination have been developed for expression array studies, but so far none has been proposed for array comparative genomic hybridization (aCGH)...
  12. pmc DNA copy number losses in human neoplasms
    S Knuutila
    Department of Medical Genetics, Haartman Institute University of Helsinki, Finland
    Am J Pathol 155:683-94. 1999
    ..The chromosomal regions in which the most frequent losses are found implicate locations of essential tumor suppressor genes and DNA repair genes that may be involved in the pathogenesis of several tumor types...
  13. ncbi request reprint A leukemia-enriched cDNA microarray platform identifies new transcripts with relevance to the biology of leukemias
    Sakari Knuutila
    Department of Pathology, Haartman Institute and HUSLAB, POB 21 University of Helsinki, Finland
    Haematologica 90:866. 2005
  14. ncbi request reprint Causes and consequences of BCL2 overexpression in diffuse large B-cell lymphoma
    S Rantanen
    Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland
    Leuk Lymphoma 42:1089-98. 2001
    ..Bcl-2 protein overexpression as determined by IHC is associated with poor response to chemotherapy and poor survival...
  15. pmc DNA copy number amplifications in human neoplasms: review of comparative genomic hybridization studies
    S Knuutila
    Laboratory of Medical Genetics, Helsinki University Central Hospital, Finland
    Am J Pathol 152:1107-23. 1998
    ..The paper with more than 150 references and two tables can be accessed from our web site http://www.helsinki.fi/lglvwww/CMG.html. The data will be updated biannually until the year 2001...
  16. ncbi request reprint Cytogenetics and molecular pathology in cancer diagnostics
    Sakari Knuutila
    Department of Pathology, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    Ann Med 36:162-71. 2004
    ..New methods and characterized specific genetic markers have opened a new era also in detection of minimal residual cells...
  17. ncbi request reprint Comparison of cytogenetics, interphase cytogenetics, and DNA flow cytometry in bone tumors
    M Tarkkanen
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Cytometry 26:185-91. 1996
    ..Thus, the combined use of all three methods increased the sensitivity of aneuploidy detection...
  18. ncbi request reprint DNA copy number profiling in esophageal Barrett adenocarcinoma: comparison with gastric adenocarcinoma and esophageal squamous cell carcinoma
    A Varis
    Department of Medical Genetics, Haartman Institute and Central Hospital, University of Helsinki, Helsinki, Finland
    Cancer Genet Cytogenet 127:53-8. 2001
    ..The similarities we found suggest a common molecular pathogenesis, whereas dissimilarities seen between Barrett adenocarcinoma and esophageal squamous cell carcinoma are in keeping with a well-known different etiology...
  19. pmc Comparison of DNA copy number changes in malignant mesothelioma, adenocarcinoma and large-cell anaplastic carcinoma of the lung
    A M Björkqvist
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Br J Cancer 77:260-9. 1998
    ..Although CGH cannot be used as a definitive discriminatory method, we were able to distinguish between mesothelioma and lung carcinoma in a large proportion of the abnormal cases...
  20. ncbi request reprint Malignant mesothelioma: clinical characteristics, asbestos mineralogy and chromosomal abnormalities of 41 patients
    L Tammilehto
    Department of Pulmonary Medicine, Helsinki University Central Hospital, Finland
    Eur J Cancer 28:1373-9. 1992
    ..2, 0.4, 0.2 and 0.1 x 10(6) fibres per g dried lung tissue). This would seem to indicate that there may be a carcinogenic role for anthophyllite...
  21. ncbi request reprint Gene expression profiling of malignant mesothelioma cell lines: cDNA array study
    E Kettunen
    Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, FIN-00029 HUCH, Helsinki, Finland
    Int J Cancer 91:492-6. 2001
    ..Our study presents gene expression profiles in MM cell lines and shows the involvement of several genes, such as those encoding JAGGED1, ser/thr protein kinase NIK, Ku80 and cyclin D2, novel in MM...
  22. ncbi request reprint Gene copy number analysis in malignant pleural mesothelioma using oligonucleotide array CGH
    P M Lindholm
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Finland
    Cytogenet Genome Res 119:46-52. 2007
    ..3, 7p22.3-->p22.2, 12q13.3, and 17q21.32-->qter. The results suggest that gene copy number losses are a major mechanism of MM carcinogenesis and reveal a recurrent pattern of copy number changes in MM...
  23. pmc Evidence for divergence of DNA copy number changes in serous, mucinous and endometrioid ovarian carcinomas
    J Tapper
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Finland
    Br J Cancer 75:1782-7. 1997
    ..The diverging pattern of genetic changes seen in epithelial ovarian carcinomas with different histological phenotypes suggests that various pathways may lead to tumorigenesis and/or progression in these subgroups...
  24. ncbi request reprint DNA sequence copy number increase at 8q: a potential new prognostic marker in high-grade osteosarcoma
    M Tarkkanen
    Helsinki University Central Hospital, and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Int J Cancer 84:114-21. 1999
    ..04). Thus, specific genetic aberrations detected at the time of the diagnosis could be used in prognostic evaluation of high-grade osteosarcoma...
  25. ncbi request reprint Comparative genomic hybridization of low-grade central osteosarcoma
    M Tarkkanen
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Mod Pathol 11:421-6. 1998
    ..This simplicity differs from the complex aberrations seen in conventional high-grade osteosarcomas...
  26. doi request reprint Expression of GATA-6 transcription factor in pleural malignant mesothelioma and metastatic pulmonary adenocarcinoma
    P M Lindholm
    Department of Medicine, University of Helsinki and Helsinki University Central Hospital, Finland
    J Clin Pathol 62:339-44. 2009
    ..New markers for the prediction of prognosis in MM and in pulmonary adenocarcinoma of the pleura are valuable. GATA-6 belongs to a six member zinc finger transcription factor family named after their recognition motif W-GATA-R...
  27. ncbi request reprint Expression of myeloid-specific genes in childhood acute lymphoblastic leukemia - a cDNA array study
    T Niini
    Department of Pathology, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland
    Leukemia 16:2213-21. 2002
    ..In conclusion, our study revealed novel information about gene expression in childhood ALL. The data obtained may contribute to further studies of the pathogenesis and prognosis of childhood ALL...
  28. ncbi request reprint Comparison of genetic changes in primary sarcomas and their pulmonary metastases
    M Tarkkanen
    Department of Medical Genetics, Haartman Institute, University of Helsinki and Laboratory of Medical Genetics, Helsinki University Central Hospital, Finland
    Genes Chromosomes Cancer 25:323-31. 1999
    ..However, despite the heterogeneous and numerous changes, all pairs with aberrations in both specimens had some shared alterations in both samples. Genes Chromosomes Cancer 25:323-331, 1999...
  29. pmc Comparison of benign and malignant follicular thyroid tumours by comparative genomic hybridization
    S Hemmer
    Department of Oncology, Helsinki University Central Hospital, Finland
    Br J Cancer 78:1012-7. 1998
    ..These changes are strikingly different from those found in follicular carcinomas consisting of few losses and frequent gains, especially those of chromosome 7. A loss of chromosome 22 is common in widely invasive follicular carcinoma...
  30. ncbi request reprint Loss of TP53 in sarcomas with 17p12 to approximately p11 gain. A fine-resolution oligonucleotide array comparative genomic hybridization study
    S Kaur
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Cytogenet Genome Res 116:153-7. 2007
    ..Precise boundaries of the lost or gained regions were determined, and in addition to the previously suggested targets of the region, ELAC and FLCN were amplified in all the sarcoma entities...
  31. ncbi request reprint DNA copy number amplifications in sarcomas with homogeneously staining regions and double minutes
    S Menghi-Sartorio
    Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, Helsinki, Finland
    Cytometry 46:79-84. 2001
    ....
  32. ncbi request reprint Gene expression and copy number profiling suggests the importance of allelic imbalance in 19p in asbestos-associated lung cancer
    H Wikman
    Finnish Institute of Occupational Health, Helsinki, Finland
    Oncogene 26:4730-7. 2007
    ..008) were found to be carriers of AI in their lung tumors. In the exposed group, AI in 19p was prevalent regardless of the histological tumor type. In adenocarcinomas, AI in 19p appeared to occur independently of the asbestos exposure...
  33. pmc Recurrent DNA copy number changes in 1q, 4q, 6q, 9p, 13q, 14q and 22q detected by comparative genomic hybridization in malignant mesothelioma
    A M Björkqvist
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Br J Cancer 75:523-7. 1997
    ..The recurrent DNA sequence changes detected in this study suggest that the corresponding chromosomal areas most probably contain genes important for the initiation and progression of mesothelioma...
  34. ncbi request reprint Comparative genomic hybridization reveals changes in DNA-copy number in poor-risk neuroblastoma
    K Vettenranta
    Division of Hematology Oncology and Stem Cell Transplantation, Hospital for Children and Adolescents, University of Helsinki, FIN 00029, Helsinki, Finland
    Cancer Genet Cytogenet 125:125-30. 2001
    ....
  35. pmc Recurrent gains of 1q, 8 and 12 in the Ewing family of tumours by comparative genomic hybridization
    G Armengol
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Br J Cancer 75:1403-9. 1997
    ..In conclusion, our findings confirm that secondary changes, which may have prognostic significance in ET, are trisomy 8, trisomy 12 and a gain of DNA sequences in 1q...
  36. ncbi request reprint Distinct gene expression profiling in chronic lymphocytic leukemia with 11q23 deletion
    Y Aalto
    Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland
    Leukemia 15:1721-8. 2001
    ..These novel findings provide fundamental information for further attempts to understand the interaction of the clustered genes in the leukomogenesis of CLL in order to better design treatments aimed at specific molecular target(s)...
  37. ncbi request reprint Loss at 12p detected by comparative genomic hybridization (CGH): association with TEL-AML1 fusion and favorable prognostic features in childhood acute lymphoblastic leukemia (ALL). A multi-institutional study
    J Kanerva
    Hospital for Children and Adolescents, Helsinki University Central Hospital, Finland
    Med Pediatr Oncol 37:419-25. 2001
    ..Genetic aberrations provide prognostic information in childhood ALL. The proportion of patients with detectable aberrations can be increased by combining G-banding with comparative genomic hybridization (CGH)...
  38. pmc Deletions at 14q in malignant mesothelioma detected by microsatellite marker analysis
    A M Björkqvist
    Department of Medical Genetics, Haartman Institute, University Helsinki, Finland
    Br J Cancer 81:1111-5. 1999
    ..These regions provide a good basis for further molecular analyses and may highlight chromosomal locations of tumour suppressor genes that could be important in the tumorigenesis of malignant mesothelioma...
  39. pmc Deletion of 11q23 and cyclin D1 overexpression are frequent aberrations in parathyroid adenomas
    S Hemmer
    Department of Oncology, Laboratory of Medical Genetics, Helsinki University Central Hospital, Haartmaninkatu 4, FIN-00029 HYKS, Helsinki, Finland
    Am J Pathol 158:1355-62. 2001
    ..The region 11q23 is frequently lost in parathyroid adenomas and occasionally in parathyroid hyperplasias, and this suggests the possibility that a tumor suppressor gene that is important in their pathogenesis is present on 11q23...
  40. doi request reprint Integrated analysis of gene copy number, copy neutral LOH, and microRNA profiles in adult acute lymphoblastic leukemia
    S Ninomiya
    Department of Pathology, HUSLAB and University of Helsinki, Finland
    Cytogenet Genome Res 136:246-55. 2012
    ..Finally, BCR-ABL1 positive cases, in contrast to negative ones, were characterized by slightly, but still significantly, higher expression levels of miR-29b...
  41. ncbi request reprint Concomitant DNA copy number amplification at 17q and 22q in dermatofibrosarcoma protuberans
    S Kiuru-Kuhlefelt
    Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    Cytogenet Cell Genet 92:192-5. 2001
    ....
  42. pmc Chromosomal abnormalities and their correlations with asbestos exposure and survival in patients with mesothelioma
    M Tiainen
    Department of Medical Genetics, University of Helsinki, Finland
    Br J Cancer 60:618-26. 1989
    ..02). In this study no diagnostic cytogenetic markers of mesothelioma were found, instead the copy number of chromosome 7 short arms turned out to be a possible prognostic factor in malignant mesothelioma...
  43. ncbi request reprint Etiology of specific molecular alterations in human malignancies
    H Vauhkonen
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Cytogenet Genome Res 118:277-83. 2007
    ..However, the etiology of these molecular alterations remains unclear. Here we discuss the roles of Helicobacter pylori and asbestos burden as carcinogens that cause gastric cancer, mesothelioma and lung cancer...
  44. ncbi request reprint L1CAM, INP10, P-cadherin, tPA and ITGB4 over-expression in malignant pleural mesotheliomas revealed by combined use of cDNA and tissue microarray
    E Kettunen
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki, Helsinki University Central Hospital, Helsinki, Finland
    Carcinogenesis 26:17-25. 2005
    ..In particular, INP10, ITGB4 and COL1A2 were up-regulated in MM compared with both reference sample types, suggesting a relationship with development of these tumours...
  45. ncbi request reprint Changes in gene expression during progression of ovarian carcinoma
    J Tapper
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, P O Box 140, Haartmaninkatu 2, FIN 00029 HUS, Helsinki, Finland
    Cancer Genet Cytogenet 128:1-6. 2001
    ..The differentially expressed genes may be related to the carcinogenesis and progression of the malignant growth...
  46. ncbi request reprint PPP2R1B gene in chronic lymphocytic leukemias and mantle cell lymphomas
    Y Zhu
    Department of Medical Genetics, Haartman Institute; Helsinki University Central Hospital, University of Helsinki, Finland
    Leuk Lymphoma 41:177-83. 2001
    ..To exclude the possibility of large genomic deletions we performed Southern blotting analysis. One MCL sample showed abnormal bands. Our results do not suggest that the PPP2R1B gene has a major pathogenic role in CLL and MCL...
  47. ncbi request reprint Oligonucleotide array comparative genomic hybridization refines the structure of 8p23.1, 17q12 and 20q13.2 amplifications in gastric carcinomas
    H Vauhkonen
    Department of Pathology, Haartman Institute, University of Helsinki, Finland
    Cytogenet Genome Res 119:39-45. 2007
    ..In addition to novel amplified regions, the oligonucleotide array results describe novel targets for amplicons at 8p11 (SFRP1), 11p12 (LRRC4C), and 19q13.2 (CEACAM6)...
  48. ncbi request reprint Primary soft tissue sarcoma and its local recurrence: genetic changes studied by comparative genomic hybridization
    P Popov
    Department of Plastic Surgery, , Helsinki University Central Hospital, Finland
    Mod Pathol 14:978-84. 2001
    ..3 was not detected in any of the primary tumors. Although all these alterations were not specific to local recurrences, they may represent changes important during tumor progression...
  49. ncbi request reprint Follow-up of minimal residual disease in pediatric acute myeloblastic leukemia using metaphase-FISH
    K Vettenranta
    Division of Hematology Oncology and Stem Cell Transplantation, Hospital for Children and Adolescents, University of Helsinki, Finland
    Leuk Lymphoma 43:1261-5. 2002
    ..Our data establish the role of metaphase-FISH in the follow-up of AML in children and emphasize the importance of an increasing level of MRD in predicting a relapse. Yet, low and stable levels of marrow MRD a ppear compatible with CCR...
  50. pmc No evidence of microsatellite instability in bone tumours
    M Tarkkanen
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Br J Cancer 74:453-5. 1996
    ..e. in 38% of the tumour samples, most frequently with markers D2S136 at 2p (eight of 28 informative specimens, 29%) and D11S904 at 11p (four of 21 informative specimens, 19%)...
  51. ncbi request reprint DNA copy number amplification profiling of human neoplasms
    S Myllykangas
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Oncogene 25:7324-32. 2006
    ..These findings indicate that amplifications are selected in the cancer tissue environment according to the qualitative traits and localization of cancer genes...
  52. ncbi request reprint Increased expression of high mobility group A proteins in lung cancer
    V K Sarhadi
    Department of Occupational Medicine, Finnish Institute of Occupational Health, Helsinki, Finland
    J Pathol 209:206-12. 2006
    ..As HMGA proteins were expressed in about 90% of lung carcinomas and their expression was inversely associated with survival, they may provide useful markers for lung cancer diagnosis and prognosis...
  53. doi request reprint 19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development
    L Siggberg
    Department of Pathology, Haartman Institute, University of Helsinki, Helsinki, Finland
    Cytogenet Genome Res 132:8-15. 2011
    ..This report gives evidence of the effect of small aberrations of chromosome 19 and describes the phenotypes arising from a duplication and deletion of the same location at 19p13.3...
  54. ncbi request reprint Gene copy number changes in dermatofibrosarcoma protuberans - a fine-resolution study using array comparative genomic hybridization
    S Kaur
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Cytogenet Genome Res 115:283-8. 2006
    ..In addition to the 17q and 22q gains, altogether 17 minimal common regions of gain and one region of loss were detected...
  55. ncbi request reprint High-resolution oligonucleotide array-CGH pinpoints genes involved in cryptic losses in chronic lymphocytic leukemia
    A Tyybakinoja
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Cytogenet Genome Res 118:8-12. 2007
    ..2-->q23.3, 3p21.31, 16pter-->p13.3, 17p13.3-->p13.2, 17q25.3-->qter, and 22q11.22. In conclusion, our oligonucleotide aCGH study revealed novel aberrations and provided detailed genomic profiles of the altered regions...
  56. ncbi request reprint The human S-adenosylmethionine decarboxylase gene: nucleotide sequence of a pseudogene and chromosomal localization of the active gene (AMD1) and the pseudogene (AMD2)
    S C Maric
    Department of Physiology, University of Helsinki, Finland
    Cytogenet Cell Genet 70:195-9. 1995
    ..AMD1 was localized to chromosome region 6q21-->q22 and AMD2 to band Xq28...
  57. ncbi request reprint Microdeletions in 9p21.3 induce false negative results in CDKN2A FISH analysis of Ewing sarcoma
    S Savola
    Department of Pathology, Haartman Institute, University of Helsinki, Finland
    Cytogenet Genome Res 119:21-6. 2007
    ..Here, we show that CDKN2A FISH analysis can give false negative results in cases with small microdeletions. Our results suggest that new and more accurate FISH methods should be developed for detection of deletions in the CDKN2A locus...
  58. pmc Amplification at 9p in cervical carcinoma by comparative genomic hybridization
    K J Jee
    Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland
    Anal Cell Pathol 22:159-63. 2001
    ..A novel finding was amplification in chromosome arm 9p21-pter in 2 cases. Gains in 1, 3q, 5p, 6p, 8q, 16p, 17, and 20q and losses at 2q, 6q, 8p, 9q, 10p, 11, 13, 16q, and 18q were observed in at least one of the cases...
  59. ncbi request reprint Establishment and characterisation of human papillomavirus type 16 DNA immortalised human tonsillar epithelial cell lines
    R W Chen
    Department of Virology, Haartman Institute, 00014 University of Helsinki, Finland
    Eur J Cancer 39:698-707. 2003
    ..They seem to represent early stages of premalignant epithelial cells and thus provide a useful model for studying further the multistep molecular events of HPV-16-associated tonsillar carcinogenesis...
  60. ncbi request reprint MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia
    P Nieminen
    Institute of Dentistry, Biomedicum, PO Box 63, FIN 00014 University of Helsinki, Finland
    J Dent Res 82:1013-7. 2003
    ..One of these presented with the only case of cleft palate among the patients. Our result confirms that haploinsufficiency for MSX1 serves as a mechanism that causes selective tooth agenesis but, alone, is not enough to cause oral clefts...
  61. pmc Potential role of a navigator gene NAV3 in colorectal cancer
    E Carlsson
    Department of Dermatology and Allergology, University of Helsinki and Helsinki University Central Hospital, PO Box 160, FI 00029 Helsinki, Finland
    Br J Cancer 106:517-24. 2012
    ..The recently described navigator proteins have a multifaceted role in cytoskeletal dynamics. We report here on the relevance of one of them, navigator 3 (NAV3), in colorectal cancer (CRC)...
  62. ncbi request reprint Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis
    A Hemminki
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Nat Genet 15:87-90. 1997
    ..The study demonstrates the power of CGH combined with LOH analysis in identifying putative tumour suppressor loci, and provides molecular evidence of malignant potential in hamartomas...
  63. pmc A novel endothelial cell surface receptor tyrosine kinase with extracellular epidermal growth factor homology domains
    J Partanen
    Department of Virology, University of Helsinki, Finland
    Mol Cell Biol 12:1698-707. 1992
    ..The tie receptor tyrosine kinase may have evolved for multiple protein-protein interactions, possibly including cell adhesion to the vascular endothelium...
  64. ncbi request reprint Follicular lymphoma cell lines, an in vitro model for antigenic selection and cytokine-mediated growth regulation of germinal centre B cells
    M Eray
    Department of Pathology, Haartman Institute, University of Helsinki, Finland
    Scand J Immunol 57:545-55. 2003
    ..These cell lines offer a unique in vitro model to study antigenic selection and cytokine-mediated growth regulation of human GC B cells...
  65. doi request reprint CDKN2A deletions in acute lymphoblastic leukemia of adolescents and young adults: an array CGH study
    Anu Usvasalo
    Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Leuk Res 32:1228-35. 2008
    ..06) to unfavorable biological category. Our results indicate that CDKN2A deletions <200 kb may not be detected by conventional methods...
  66. doi request reprint Epigenetic signatures of familial cancer are characteristic of tumor type and family category
    Emmi I Joensuu
    Department of Medical Genetics, University of Helsinki, Finland
    Cancer Res 68:4597-605. 2008
    ..Paired normal tissues or blood displayed negligible methylation arguing against a constitutional methylation abnormality in familial cases...
  67. ncbi request reprint Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample
    Katja Kivinen
    Department of Biosciences at Novum, Karolinska Institutet, Stockholm, Sweden
    Eur J Hum Genet 15:494-7. 2007
    ..In conclusion, we are unable to validate STOX1 as a common preeclampsia susceptibility gene...
  68. ncbi request reprint Molecular karyotyping in sarcoma diagnostics and research
    Hanna Vauhkonen
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
    Adv Exp Med Biol 587:53-63. 2006
    ..We review here the clinically most relevant cytogenetic and molecular changes in sarcomas and describe latest microarray techniques for screening of clinically relevant gene copy number and expression changes...
  69. ncbi request reprint Specificity, selection and significance of gene amplifications in cancer
    Samuel Myllykangas
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, POB 21 Haartmaninkatu 3, FI 00014 University of Helsinki, Helsinki, Finland
    Semin Cancer Biol 17:42-55. 2007
    ..Here we discuss the specificity of non-randomly occurring DNA copy number amplifications as defining features for cancers, their selection in the tumor tissue, and significance in the clinical practice...
  70. doi request reprint Oligoarray comparative genomic hybridization in polycythemia vera and essential thrombocythemia
    Ioana Borze
    Haematologica 93:1098-100. 2008
  71. doi request reprint Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
    Sirpa Ala-Mello
    Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland
    Am J Med Genet A 146:2490-4. 2008
    ..In addition to OAV she developed myelodysplasia treated with bone marrow transplantation. We discuss her clinical findings with reference to her karyotype findings and review the patients with OAV and a terminal deletion of 5p...
  72. ncbi request reprint Proposals for standardized protocols for cytogenetic analyses of acute leukemias, chronic lymphocytic leukemia, chronic myeloid leukemia, chronic myeloproliferative disorders, and myelodysplastic syndromes
    Claudia Haferlach
    MLL Munich Leukemia Laboratory, Munich, Germany
    Genes Chromosomes Cancer 46:494-9. 2007
    ..It was our aim to present proposals for standardized protocols to improve the diagnosis, and hence the treatment outcome, of hematologic malignancies...
  73. ncbi request reprint Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors
    Reetta Assämäki
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Genes Chromosomes Cancer 46:564-76. 2007
    ..Array CGH proved to be an effective tool for the identification of chromosome regions involved in the development and progression of GISTs...
  74. doi request reprint Aberrations of chromosome 19 in asbestos-associated lung cancer and in asbestos-induced micronuclei of bronchial epithelial cells in vitro
    Salla T Ruosaari
    Biological Mechanisms and Prevention of Work related Diseases, Health and Work Ability, Finnish Institute of Occupational Health, Topeliuksenkatu 41 aA, FI 00250 Helsinki, Finland
    Carcinogenesis 29:913-7. 2008
    ..01). The results suggest that 19p has significance in asbestos-associated carcinogenesis and that asbestos may be capable of inducing specific chromosome aberrations...
  75. pmc CanGEM: mining gene copy number changes in cancer
    Ilari Scheinin
    Genome Informatics Unit, Biomedicum Helsinki, Finland
    Nucleic Acids Res 36:D830-5. 2008
    ..Furthermore, the original data files are available for more detailed analysis. The CanGEM database can be accessed at http://www.cangem.org/...
  76. doi request reprint No gene copy number changes in Dupuytren's contracture by array comparative genomic hybridization
    Sippy Kaur
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and University Central Hospital, POB 21 Haartmaninkatu 3, Helsinki 00014, Finland
    Cancer Genet Cytogenet 183:6-8. 2008
    ..Accordingly, gene amplifications or deletions are apparently not involved in the progression of abnormal fibroblast proliferation and matrix deposition that lead to DC...
  77. ncbi request reprint Can bladder adenocarcinomas be distinguished from schistosomiasis-associated bladder cancers by using array comparative genomic hybridization analysis?
    Hanna Vauhkonen
    Department of Pathology, Haartman Institute and HUSLAB, POB 21 Haartmaninkatu 3, University of Helsinki and Helsinki University Central Hospital, Helsinki, FI 00014, Finland
    Cancer Genet Cytogenet 177:153-7. 2007
    ..g., TCC- and SCC-associated losses at 18p and 20p, and adenocarcinoma-associated gains at 20q). The results suggest that although SA cancers share genetic features, there also exist histology-specific regions of gain and loss...
  78. doi request reprint Integrated gene copy number and expression microarray analysis of gastric cancer highlights potential target genes
    Samuel Myllykangas
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Int J Cancer 123:817-25. 2008
    ..In conclusion, our results demonstrate that intestinal and diffuse type gastric cancers as well as cancers located in different sites of the stomach have distinct molecular profiles which may have clinical value...
  79. ncbi request reprint Genomic imbalances in Schistosoma-associated and non-Schistosoma-associated bladder carcinoma. An array comparative genomic hybridization analysis
    Gemma Armengol
    U Antropologia, Departament de Biologia Animal, Biologia Vegetal i Ecologia, Faculty of Sciences, Universitat Autonoma de Barcelona, Bellaterra, Barcelona 08193, Spain
    Cancer Genet Cytogenet 177:16-9. 2007
    ..2) in SA-SCC. The following genes were gained in all histopathologic categories: SRC (20q11.23), CEBPB (20q13.13), and GPR9 (Xq13.1). Our study did not provide clear evidence of differences in carcinogenesis of SA-BC and NSA-BC...
  80. doi request reprint Acute lymphoblastic leukemia in adolescents and young adults in Finland
    Anu Usvasalo
    Hospital for Children and Adolescents, University of Helsinki, P O Box 281, 00029 HUS, Helsinki, Finland
    Haematologica 93:1161-8. 2008
    ..We, therefore, studied acute lymphoblastic leukemia in adolescents and young adults aged 10 to 25 years in Finland...
  81. ncbi request reprint Truncation of MBD4 predisposes to reciprocal chromosomal translocations and alters the response to therapeutic agents in colon cancer cells
    Wael M Abdel-Rahman
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    DNA Repair (Amst) 7:321-8. 2008
    ..We also show that over-expression of MBD4(tru) in DLD1 alters the colony survival after exposure to cisplatin or etoposide. These data suggest a wide role for MBD4 in DNA damage response and maintaining chromosomal stability...
  82. ncbi request reprint Characterizing genetically stable and unstable gastric cancers by microsatellites and array comparative genomic hybridization
    Hanna Vauhkonen
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, POB 21 Haartmaninkatu 3, FI 00014, Helsinki, Finland
    Cancer Genet Cytogenet 170:133-9. 2006
    ..2 was found only in diffuse-type tumors, which were otherwise genetically stable. The results suggest that DNA copy number changes may also occur in gastric cancers that show genomic stability in microsatellite analysis...
  83. ncbi request reprint Gene copy number profiling of soft-tissue leiomyosarcomas by array-comparative genomic hybridization
    Marcelo L Larramendy
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Haartmaninkatu 3, FI 00014 Helsinki, Finland
    Cancer Genet Cytogenet 169:94-101. 2006
    ..The list of altered genes in the minimal common regions is available as at our web site (http://www.helsinki.fi/cmg/microarray_data)...
  84. ncbi request reprint Copy number gains on 5p15, 6p11-q11, 7p12, and 8q24 are rare in sputum cells of individuals at high risk of lung cancer
    Eeva Kettunen
    Finnish Institute of Occupational Health, Centre of Expertise for Health and Work Ability, Topeliuksenkatu 41 a A, FI 00250 Helsinki, Finland
    Lung Cancer 54:169-76. 2006
    ..One of such probe sets, LAVysion, detects copy number changes in the centromeric region of chromosome 6 (CEP6), and regions 5p15, 8q24, and 7p12, often gained in lung cancer...
  85. ncbi request reprint Caveolins as tumour markers in lung cancer detected by combined use of cDNA and tissue microarrays
    Harriet Wikman
    Departments of Medical Genetics and Pathology, Haartman Institute, University of Helsinki and Helsinki University Central Hospital Laboratory Diagnostics, Helsinki, Finland
    J Pathol 203:584-93. 2004
    ..Some of these genes may provide novel diagnostic markers for lung cancer...
  86. ncbi request reprint Ultrastructural and chromosomal studies on manganese superoxide dismutase in malignant mesothelioma
    Vuokko L Kinnula
    Department of Medicine, Pulmonary Division, University of Helsinki and Helsinki University Hospital, Box 22 Haartmanink 4, 00140 Helsinki, Finland
    Am J Respir Cell Mol Biol 31:147-53. 2004
    ..Association with oxidative/nitrosative stress in mesothelioma using nitrotyrosine immunostaining pointed to a tendency for more intense reactivity in those mesotheliomas with higher MnSOD expression (P = 0.069)...
  87. ncbi request reprint Coamplified and overexpressed genes at ERBB2 locus in gastric cancer
    Asta Varis
    Departments of Pathology and Medical Genetics, Haartman Institute, University of Helsinki and Helsinki University Central Hospital Laboratory Diagnostics, Helsinki, Finland
    Int J Cancer 109:548-53. 2004
    ..Additional studies are required to thoroughly understand the biological significance of these genes in gastric cancer...
  88. ncbi request reprint Aberrant expression of HOXA9, DEK, CBL and CSF1R in acute myeloid leukemia
    Silvia Casas
    Department of Pathology, Haartman Institute, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    Leuk Lymphoma 44:1935-41. 2003
    ..Furthermore, an association was found between the AML-M2 subtype and lower expression of CBL, CSF1R or HOXA9, and between the AML-M5 subtype and CBL or CSF1R overexpression...
  89. ncbi request reprint Gene expression profile by blocking the SYT-SSX fusion gene in synovial sarcoma cells. Identification of XRCC4 as a putative SYT-SSX target gene
    Yuntao Xie
    Department of Oncology and Pathology, CCK R8 04, Karolinska Hospital, SE 171 76, Stockholm, Sweden
    Oncogene 22:7628-31. 2003
    ..Our study provides some clues to elucidate the signaling pathways of the SYT-SSX fusion gene, as well as it demonstrates a valuable model system for search for other SYT-SSX targets...
  90. ncbi request reprint Genome-wide allelotyping of 104 Finnish colorectal cancers reveals an excess of allelic imbalance in chromosome 20q in familial cases
    Paivi Laiho
    Department of Medical Genetics, Biomedicum Helsinki, Haartmanikatu, University of Helsinki, Finland
    Oncogene 22:2206-14. 2003
    ..The approach provides an alternative strategy for detecting cancer predisposition genes solely reliant on the molecular analysis of single cases obviating the requirement to collect multiple samples from families...
  91. pmc Gain in 1q is a common abnormality in phyllodes tumours of the breast
    Kowan J Jee
    Departments of Pathology and Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    Anal Cell Pathol 25:89-93. 2003
    ..Colour figure can be viewed on http://www.esacp.org/acp/2003/25-2/jee.htm..
  92. ncbi request reprint Amplification of 17p11.2 approximately p12, including PMP22, TOP3A, and MAPK7, in high-grade osteosarcoma
    Maaike van Dartel
    Department of Human Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands
    Cancer Genet Cytogenet 139:91-6. 2002
    ..2. Our findings suggest that multiple amplification targets, including PMP22, TOP3A, and MAPK7 or genes close to these candidate oncogenes, may be present in 17p11.2 approximately p12 and thus contribute to osteosarcoma tumorigenesis...
  93. ncbi request reprint Investigatory and analytical approaches to differential gene expression profiling in mantle cell lymphoma
    Ying Zhu
    Departments of Pathology and Medical Genetics, Haartman Institute and Helsinki University Central Hospital, Laboratory of Computer and Information Science, Helsinki University of Technology, Helsinki, Finland
    Br J Haematol 119:905-15. 2002
    ..Among them, BCL1, CALLA/CD10 and GRN were suggested to be oncogenes. The products of RGS1, RGS2, ANX2 and CD44H were suggested to promote tumour metastasis. CD66D was suggested to be a tumour suppressor gene...
  94. ncbi request reprint Genetic profile, PTEN mutation and therapeutic role of PTEN in glioblastomas
    Xing Fan
    Molecular Neuro oncology Laboratory, University of Navarre Medical School, Irunlarrea s n, E 31008 Pamplona, Spain
    Int J Oncol 21:1141-50. 2002
    ..Our findings suggest that PTEN participates in the genesis of GBM, and might be further studied as a candidate therapeutic agent in other testing systems...
  95. ncbi request reprint Identification of differentially expressed genes in pulmonary adenocarcinoma by using cDNA array
    Harriet Wikman
    Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    Oncogene 21:5804-13. 2002
    ..In conclusion, by using the cDNA array technique we were able to reveal marked differences in the gene expression level between normal lung and tumour tissue and find possible new tumour markers for pulmonary adenocarcinoma...
  96. ncbi request reprint Gastric cancers overexpress DARPP-32 and a novel isoform, t-DARPP
    Wa el El-Rifai
    Department of Medicine, University of Virginia Health System, Charlottesville, Virginia 22908 0708, USA
    Cancer Res 62:4061-4. 2002
    ..Our results reveal for the first time the presence of these signaling molecules in human cancer and suggest that they may be important for gastric tumorigenesis...
  97. ncbi request reprint Overexpression of translocation-associated fusion genes of FGFRI, MYC, NPMI, and DEK, but absence of the translocations in acute myeloid leukemia. A microarray analysis
    Marcelo L Larramendy
    Department of Pathology, Haartman Institute, Helsinki University Central Hospital, FIN 00014 University of Helsinki, Haartmaninkatu 3, Helsinki, Finland
    Haematologica 87:569-77. 2002
    ..Other molecular genetic changes are less well known. The novel cDNA technology has opened the avenue to large-scale gene expression analysis. Our aim was to perform cDNA microarray analysis of acute myeloid leukemia (AML)...
  98. ncbi request reprint Cryopreserved chronic lymphocytic leukemia cells analyzed by multicolor fluorescence in situ hybridization after optimized mitogen stimulation
    Ritva Karhu
    Laboratory of Cancer Genetics, University of Tampere and Tampere University Hospital, Tampere, Finland
    Genes Chromosomes Cancer 34:345-8. 2002
    ..In addition to typical CLL abnormalities, such as del(11q) or +12, several balanced translocations and single-cell abnormalities were found. Thus, mFISH can reveal new prognostically relevant chromosome aberrations in CLL...
  99. ncbi request reprint Targets of gene amplification and overexpression at 17q in gastric cancer
    Asta Varis
    Department of Medical Genetics, University of Helsinki and Helsinki University Central Hospital, Helsinki 00290, Finland
    Cancer Res 62:2625-9. 2002
    ..Additional studies will be initiated to understand the possible biological and clinical significance of these genes in gastric cancer development and progression...
  100. ncbi request reprint DNA copy number changes in lung adenocarcinoma in younger patients
    Irmeli Lindström
    Department of Pathology, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland
    Mod Pathol 15:372-8. 2002
    ..Several candidate genes have already been described in the long arm of chromosome 20, particularly in breast cancer...
  101. ncbi request reprint Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21
    Leonardo A Meza-Zepeda
    Department of Tumour Biology, The Norwegian Radium Hospital, Montebello N 0310, Oslo, Norway
    Oncogene 21:2261-9. 2002
    ..Quite likely, the different genes may give selective advantages to different subsets of tumours...