J Kere

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. ncbi request reprint Human population genetics: lessons from Finland
    J Kere
    Finnish Genome Center, University of Helsinki, Helsinki 00014, Finland
    Annu Rev Genomics Hum Genet 2:103-28. 2001
  2. ncbi request reprint Inherited disorders of ion transport in the intestine
    J Kere
    Finnish Genome Center, PO Box 21 Tukholmankatu 2, 00014 University of Helsinki, Finland
    Curr Opin Genet Dev 10:306-9. 2000
  3. doi request reprint Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations
    L L E Koskinen
    Department of Medical Genetics and Research Program for Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Tissue Antigens 74:408-16. 2009
  4. ncbi request reprint Genomic structure of the human congenital chloride diarrhea (CLD) gene
    S Haila
    Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland
    Gene 214:87-93. 1998
  5. pmc A dominant gene for developmental dyslexia on chromosome 3
    J Nopola-Hemmi
    Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland
    J Med Genet 38:658-64. 2001
  6. ncbi request reprint Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Hum Mutat 18:233-42. 2001
  7. ncbi request reprint Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders
    T Laitinen
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Am J Respir Crit Care Med 161:700-6. 2000
  8. ncbi request reprint The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells
    S Haila
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Histochem Cell Biol 113:279-86. 2000
  9. ncbi request reprint Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis
    E Laiho
    Department of Clinical Chemistry, Institute of Biomedicine, University of Helsinki, Laboratory Department of Helsinki University Central Hospital, Finland
    Eur J Hum Genet 7:625-32. 1999
  10. ncbi request reprint Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea
    S Hihnala
    Hospital for Children and Adolescents, Department of Medical Genetics, University of Helsinki, Finland
    Mol Hum Reprod 12:107-11. 2006

Detail Information

Publications81

  1. ncbi request reprint Human population genetics: lessons from Finland
    J Kere
    Finnish Genome Center, University of Helsinki, Helsinki 00014, Finland
    Annu Rev Genomics Hum Genet 2:103-28. 2001
    ..The annotation of the human genome for its polymorphism and involvement in disease is not over; it is, therefore, of interest to assess whether genetic studies in populations such as the Finnish might help in the remaining tasks...
  2. ncbi request reprint Inherited disorders of ion transport in the intestine
    J Kere
    Finnish Genome Center, PO Box 21 Tukholmankatu 2, 00014 University of Helsinki, Finland
    Curr Opin Genet Dev 10:306-9. 2000
    ..A major apical Na+/H+ exchanger has also been identified. New insight into metal ion absorption has been gained, and several new transporters without cognate diseases have been cloned...
  3. doi request reprint Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations
    L L E Koskinen
    Department of Medical Genetics and Research Program for Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Tissue Antigens 74:408-16. 2009
    ..Our study strongly supports the role of the CELIAC2 locus in celiac disease, but it also highlights the need for a more powerful study design in the region, to locate the true disease risk variants...
  4. ncbi request reprint Genomic structure of the human congenital chloride diarrhea (CLD) gene
    S Haila
    Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland
    Gene 214:87-93. 1998
    ..Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)...
  5. pmc A dominant gene for developmental dyslexia on chromosome 3
    J Nopola-Hemmi
    Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland
    J Med Genet 38:658-64. 2001
    ..The new locus on chromosome 3 is associated with deficits in all three essential components involved in the reading process, namely phonological awareness, rapid naming, and verbal short term memory...
  6. ncbi request reprint Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Hum Mutat 18:233-42. 2001
    ..The increasingly wide diversity of SLC26A3 mutations suggests that mutations in the SLC26A3 gene may not be rare events...
  7. ncbi request reprint Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders
    T Laitinen
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Am J Respir Crit Care Med 161:700-6. 2000
    ..Our results suggest that chromosome 19p13 might harbor a genetic determinant of IgE-related traits. Studies in other population samples are needed to verify this finding...
  8. ncbi request reprint The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells
    S Haila
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Histochem Cell Biol 113:279-86. 2000
    ..The DTDST gene was abundantly expressed in the upper crypt epithelium of colonic mucosa...
  9. ncbi request reprint Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis
    E Laiho
    Department of Clinical Chemistry, Institute of Biomedicine, University of Helsinki, Laboratory Department of Helsinki University Central Hospital, Finland
    Eur J Hum Genet 7:625-32. 1999
    ..Clinically typical phenotype of the TGM1 mutation carrier includes large, thick, brownish scales, but ichthyosis of some of these patients tends to be milder...
  10. ncbi request reprint Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea
    S Hihnala
    Hospital for Children and Adolescents, Department of Medical Genetics, University of Helsinki, Finland
    Mol Hum Reprod 12:107-11. 2006
    ..Tissue-specific co-expression with CFTR and NHE3 supports diverse functions of SLC26A3 and may have an impact on pathophysiology of male subfertility both in CLD and in cystic fibrosis (CF), as well as spermatoceles...
  11. ncbi request reprint The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia
    K Pääkkönen
    Department of Medical Genetics, Haartman Institute, PO Box 21, University of Helsinki, FIN 00014 Helsinki, Finland
    Hum Mutat 17:349. 2001
    ..Truncating and splice site mutations occur within the proximal two-thirds of the protein. Our data suggest the functional importance of specific ectodysplasin domains. Hum Mutat 17:349, 2001...
  12. ncbi request reprint Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31
    P Hoglund
    Department of Medical Genetics, University of Helsinki, Finland
    Genome Res 6:202-10. 1996
    ..Both genes map within 450 kb from D7S496, making them functionally and positionally relevant candidates for CLD...
  13. ncbi request reprint Upregulation of CFTR expression but not SLC26A3 and SLC9A3 in ulcerative colitis
    H Lohi
    Department of Medical Genetics, Helsinki University Central Hospital, Biomedicum, University of Helsinki, 00014 Helsinki, Finland
    Am J Physiol Gastrointest Liver Physiol 283:G567-75. 2002
    ....
  14. pmc Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Gut 48:724-7. 2001
    ..To date, almost 30 different mutations in the SLC26A3 gene have been identified throughout the world. No clear genotype-phenotype correlation has been established...
  15. pmc Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait
    P Hoglund
    Department of Medical Genetics, University of Helsinki, Finland
    Am J Hum Genet 63:760-8. 1998
    ..This suggests that mutations in the CLD locus are not rare events. Although the disease is thought to be rare, undiagnosed patients may not be uncommon...
  16. doi request reprint Genome-wide analysis of extended pedigrees confirms IL2-IL21 linkage and shows additional regions of interest potentially influencing coeliac disease risk
    E Einarsdottir
    Research Program Unit, Molecular Medicine, University of Helsinki, Helsinki, Finland
    Tissue Antigens 78:428-37. 2011
    ..The importance of this locus to coeliac disease risk was further shown by the finding that serum levels of IL21 were elevated in both untreated and treated coeliac patients compared to controls...
  17. ncbi request reprint A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population
    T Laitinen
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Nat Genet 28:87-91. 2001
    ..9, P=0.0001), exceeding the threshold for genome-wide significance based on simulations. We also observed linkage between this locus and asthma or atopy in two independent data sets...
  18. ncbi request reprint Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein
    O Elomaa
    Department of Medical Genetics, Haartman Institute, Finnish Genome Center and Institute of Biotechnology, Viikki Biocenter, 00014 University of Helsinki, Helsinki, Finland
    Hum Mol Genet 10:953-62. 2001
    ..We conclude that as a soluble ligand, ectodysplasin is able to interact with EDAR and mediate signals needed for the development of ectodermal appendages...
  19. ncbi request reprint Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF
    J Pispa
    Institute of Biotechnology, Viikki Biocenter, University of Helsinki, Finland
    Dev Biol 216:521-34. 1999
    ..Instead FGF-10 partially restored morphogenesis and stimulated the development of additional tooth cusps in cultured Tabby molars...
  20. doi request reprint Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis
    T Lappalainen
    Finnish Genome Center, Institute for Molecular Medicine Finland, University of Helsinki, Tukholmankatu 8, P O Box 20, 00014 Helsinki, Finland
    Ann Hum Genet 73:61-73. 2009
    ..Our sampling strategy, nonselective on the current population rather than stratified according to ancestry, is informative for capturing the contemporary variation in the increasingly panmictic populations of the world...
  21. ncbi request reprint Mining associations between genetic markers, phenotypes, and covariates
    P Sevon
    Department of Computer Science, University of Helsinki, Helsinki, Finland
    Genet Epidemiol 21:S588-93. 2001
    ..The larger sample size gave very good results: all susceptibility genes, except one, could be correctly localized. First experiments on candidate genes suggested that HPM is applicable even to fine mapping of mutations in DNA sequence...
  22. ncbi request reprint Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger
    H Lohi
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Genomics 70:102-12. 2000
    ..The functional characterization of the novel members of this tissue-specific gene family may provide new insights into anion transport physiology in different parts of the body...
  23. ncbi request reprint SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types
    S Haila
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    J Histochem Cytochem 49:973-82. 2001
    ..Our results suggest a more limited expression pattern for SLC26A2 than that found by Northern analysis. However, SLC26A2 expression is also detected in tissues not affected in chondrodysplasias caused by SLC26A2 mutations...
  24. doi request reprint Neuropeptide S receptor 1 expression in the intestine and skin--putative role in peptide hormone secretion
    L Sundman
    Department of Medical Genetics and Research Program for Molecular Medicine, University of Helsinki, Helsinki, Finland
    Neurogastroenterol Motil 22:79-87, e30. 2010
    ..The NPS/NPSR1 pathway may participate in the regulation of the peptide hormone production in enteroendocrine cells of the small intestine...
  25. ncbi request reprint Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187
    A de la Chapelle
    Department of Medical Genetics, University of Helsinki, Finland
    Nat Genet 2:157-60. 1992
    ..We conclude that substitution of the uncharged Asn or Tyr for the acidic Asp at residue 187 creates a conformation that may be preferentially amyloidogenic for GSN...
  26. pmc A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32
    N Kaminen
    Department of Medical Genetics, Biomedicum, University of Helsinki, Finland
    J Med Genet 40:340-5. 2003
    ..No mutations were identified. We conclude that DYX3 appears to be important for dyslexia susceptibility in many Finnish families, and a suggested linkage of dyslexia to chromosome 7q32 will need verification in other data sets...
  27. ncbi request reprint Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure
    S Makela
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, FIN 00014 Helsinki, Finland
    Mol Hum Reprod 11:129-32. 2005
    ..We conclude that the SLC26A8 mutations are not a common cause of male infertility...
  28. pmc Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes
    E Salmela
    Finnish Genome Center, University of Helsinki, Finland
    J Med Genet 43:590-7. 2006
    ..Association mapping is a common strategy for finding disease-related genes in complex disorders. Different association study designs exist, such as case-control studies or admixture mapping...
  29. ncbi request reprint Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association
    L L E Koskinen
    Department of Medical Genetics, and Research Programo f Molecular Medicine, University of Helsinki, Finland
    J Med Genet 45:222-7. 2008
    ..The same gene has previously been associated with inflammatory bowel disease, systemic lupus erythematosus and rheumatoid arthritis risk, making myosin IXB a potential shared risk factor in these inflammatory disorders...
  30. ncbi request reprint Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34
    H Koillinen
    Department of Medical Genetics, University of Helsinki, Finland
    Eur J Hum Genet 9:747-52. 2001
    ..This finding has a special interest because the phenotype in VWS closely resembles the phenotype in non-syndromic forms of cleft lip and palate...
  31. pmc Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population
    E Laiho
    Department of Clinical Chemistry, University of Helsinki, Finland
    Am J Hum Genet 61:529-38. 1997
    ....
  32. ncbi request reprint X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
    J Kere
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Nat Genet 13:409-16. 1996
    ..The gene is expressed in keratinocytes, hair follicles, and sweat glands, and in other adult and fetal tissues. The predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signalling...
  33. pmc Intrachromosomal rearrangements fusing L-myc and rlf in small-cell lung cancer
    T P Mäkelä
    Department of Virology, University of Helsinki, Finland
    Mol Cell Biol 11:4015-21. 1991
    ..The presence of independent genetic lesions that cause the formation of identical chimeric rlf-L-myc proteins suggests a role for the fusion protein in the development of these tumors...
  34. ncbi request reprint Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population
    K Pääkkönen
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Genet Epidemiol 20:239-46. 2001
    ..The geographical clustering of breast cancer cases was not explained by BRCA1 or BRCA2 genes...
  35. 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...
  36. ncbi request reprint Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion
    M L Mikkola
    Developmental Biology Program, Institute of Biotechnology, Viikki Biocenter, 00014 University of Helsinki, Helsinki, Finland
    Mech Dev 88:133-46. 1999
    ..Ectodysplasin is the first TNF-like signaling molecule described known to be required for epithelial morphogenesis...
  37. ncbi request reprint A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele
    K Asumalahti
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Hum Mol Genet 9:1533-42. 2000
    ..We found HCR to be overexpressed in keratinocytes of psoriatic lesions compared with paired samples of healthy skin. Our results suggest a potential role for HCR in the pathogenesis of psoriasis...
  38. ncbi request reprint Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
    P Salmikangas
    Department of Pathology, University of Helsinki, Haartman Institute, Helsinki, Finland
    Hum Mol Genet 8:1329-36. 1999
    ..The muscle specificity and apparent role as a sarcomeric structural protein raise the possibility that defects in the myotilin gene may cause muscular dystrophy...
  39. ncbi request reprint Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA
    K Hannula
    Department of Medical Genetics, Haartman Institute, Haartmaninkatu 3, Helsinki, FIN 00014, Finland
    Genomics 73:1-9. 2001
    ..These findings indicate that methylation patterns may change significantly during cell culture in a parent-of-origin-dependent manner and suggest that methylation is maintained differently on maternal and paternal chromosomes 7...
  40. ncbi request reprint Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
    P Hoglund
    Department of Medical Genetics, Haartman Institute, Helsinki, Finland
    Nat Genet 14:316-9. 1996
    ..We conclude that DRA is an intestinal anion transport molecule that causes chloride diarrhoea when mutated...
  41. pmc Two functional variants of the superoxide dismutase genes in Finnish families with asthma
    V L Kinnula
    Department of Internal Medicine, University of Oulu and Oulu University Hospital, Finland
    Thorax 59:116-9. 2004
    ..Functional polymorphisms in the genes encoding superoxide dismutases (SOD)-that is, superoxide scavenging antioxidant enzymes-may play an important role in the development of inflammatory airway diseases such as asthma...
  42. ncbi request reprint A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland
    T Otonkoski
    Transplantation Laboratory, Haartman Institute, and University of Helsinki, Finland
    Diabetes 48:408-15. 1999
    ..This unique SUR1 mutation explains the majority of PHHI cases in Finland and is strongly associated with a severe form of the disease. These findings provide diagnostic and prognostic utility for suspected PHHI patients...
  43. pmc A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region
    K Hannula
    Department of Medical Genetics, Haartman Institute, FIN 00014 University of Helsinki, Finland
    Am J Hum Genet 68:247-53. 2001
    ..Although partial UPD has previously been reported for chromosomes 6, 11, 14, and 15, this is the first report of a patient with SRS who has segmental matUPD7. Our findings delimit a candidate imprinted region sufficient to cause SRS...
  44. 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
    ....
  45. ncbi request reprint Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family
    A de la Chapelle
    Department of Medical Genetics, University of Helsinki, Finland
    Genomics 13:898-901. 1992
    ..We suggest two alternative explanations: (i) the mutation arose in a very early common ancestor or (ii) the Asn187 mutation is particularly, perhaps uniquely, amyloidogenic...
  46. ncbi request reprint The association of antibodies to cardiolipin, beta 2-glycoprotein I, prothrombin, and oxidized low-density lipoprotein with thrombosis in 292 patients with familial and sporadic systemic lupus erythematosus
    S Koskenmies
    Department of Medical Genetics, University of Helsinki, Finland
    Scand J Rheumatol 33:246-52. 2004
    ....
  47. ncbi request reprint The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
    M Bayes
    Department of Medical Genetics, Haartman Institute, PO Box 21, University of Helsinki, 00014 Helsinki, Finland
    Hum Mol Genet 7:1661-9. 1998
    ..Our results will allow mutation diagnostics in the majority of patients...
  48. ncbi request reprint Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach
    M Ollikainen
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Oncogene 26:4541-9. 2007
    ..MALDI-TOF provides a novel approach for the detection and quantification of LOH...
  49. ncbi request reprint Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Hum Mutat 11:321-7. 1998
    ..These short segments span only 6.7% of the total cDNA length, suggesting functional importance or mutation-prone DNA regions of the corresponding CLD/DRA protein domains...
  50. ncbi request reprint Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma
    E Virolainen
    Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland
    Br J Dermatol 145:480-3. 2001
    ..This may be due to lack of specificity of ultrastructural markers for HI or to its clinical heterogeneity...
  51. ncbi request reprint Genomic structure of the human ezrin gene
    P Majander-Nordenswan
    Department of Virology, Haartman Institute, University of Helsinki, Finland
    Hum Genet 103:662-5. 1998
    ..The genomic structures of ezrin and moesin are highly conserved, suggesting their recent divergence. Radiation hybrid mapping has refined the location of ezrin to the interval between D6S442 and D6S281...
  52. ncbi request reprint The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone
    O Montonen
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    J Histochem Cytochem 46:281-9. 1998
    ..However, the expression is not limited to the ectodermal tissues and many sites of expression are not obviously reflected in the clinical features of the syndrome...
  53. pmc The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains
    A K Srivastava
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, SC 29646, USA
    Proc Natl Acad Sci U S A 94:13069-74. 1997
    ..The longest Ta cDNA encodes a 391-residue transmembrane protein, ectodysplasin-A, containing 19 Gly-Xaa-Yaa repeats. The isoforms of ectodysplasin-A may correlate with differential roles during embryonic development...
  54. ncbi request reprint The role of inflammatory bowel disease susceptibility loci in multiple sclerosis and systemic lupus erythematosus
    P L De Jager
    Center for Neurologic Diseases, Department of Neurology, Harvard Medical School and Brigham and Women s Hospital, MA, USA
    Genes Immun 7:327-34. 2006
    ..Our data, therefore, suggest that both the CARD15 gene and the IBD5 locus may have a role as general susceptibility loci for certain common, genetically complex inflammatory diseases...
  55. pmc Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis
    E Ekelund
    Department of Molecular Medicine and Surgery, Department of Medicine, Karolinska University Hospital, Stockholm, SE 171 76, Sweden
    Am J Hum Genet 78:1060-5. 2006
    ..02 and P<.03). These results strongly suggest that SOCS3, located in a chromosomal region previously linked to the disease (17q25), is a susceptibility gene for atopic dermatitis...
  56. pmc Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies
    S M Karppinen
    Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland
    J Med Genet 43:856-62. 2006
    ..The C-terminal Cys557Ser change has previously been uncovered to associate with an increased risk of breast cancer and was recently shown to result in defective apoptotic activities...
  57. ncbi request reprint alpha2-Heremans-Schmid glycoprotein gene polymorphisms are associated with adipocyte insulin action
    I Dahlman
    Department of Medicine M61, Karolinska University Hospital, Huddinge, Karolinska Institute, 141 86 Stockholm, Sweden
    Diabetologia 47:1974-9. 2004
    ..The aim of this study was to investigate the effect of single-nucleotide polymorphisms (SNPs) in the gene encoding the human alpha(2)-Heremans-Schmid glycoprotein (AHSG) on obesity and insulin action in adipocytes...
  58. ncbi request reprint Interaction between variants in the interleukin-4 receptor alpha and interleukin-9 receptor genes in childhood wheezing: evidence from a birth cohort study
    E Melen
    Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
    Clin Exp Allergy 36:1391-8. 2006
    ..Such interactions have been proposed to explain partly the difficulties in replicating association studies...
  59. ncbi request reprint Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma
    G Malerba
    Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy
    Clin Exp Allergy 37:83-9. 2007
    ..A fine mapping in Finnish and French-Canadian populations has associated the GPR154 gene (also known as G-protein-coupled receptor for asthma susceptibility, GPRA) with elevated IgE or asthma...
  60. ncbi request reprint Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1
    S M van der Maarel
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mol Genet 5:887-97. 1996
    ..Moreover, weaker sequence similarity was observed between coding regions and two other ESTs...
  61. doi request reprint Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes
    M Pegelow
    Department of Orthodontics, Karolinska Institutet, Huddinge, Sweden
    Eur J Orthod 30:169-75. 2008
    ..It was concluded that mutations of the IRF6 gene are not a common cause for cleft predisposition in Swedish NSCL/P families...
  62. pmc Direct selection: a method for the isolation of cDNAs encoded by large genomic regions
    M Lovett
    Department of Molecular Genetics, Genelabs Inc, Redwood City, CA 94063
    Proc Natl Acad Sci U S A 88:9628-32. 1991
    ....
  63. ncbi request reprint Genome scan on Swedish Alzheimer's disease families
    A Sillen
    Department Neurotec, Karolinska Institutet Sumitomo Pharmaceuticals Alzheimer Center, Karolinska Institutet, Novum, Huddinge, Sweden
    Mol Psychiatry 11:182-6. 2006
    ..Instead, we observed the next highest LOD score on chromosome 5q35 in the total material. Further, the data suggest that the major fraction of families linked to this region is APOE varepsilon4 positive...
  64. pmc Phenylketonuria screening registry as a resource for population genetic studies
    U Hannelius
    J Med Genet 42:e60. 2005
    ..Neonatal screening for metabolic diseases, involving samples stored on filter paper (Guthrie spots), provides a potential resource for genetic epidemiological studies...
  65. pmc Global analysis of uniparental disomy using high density genotyping arrays
    S Bruce
    Department of Biosciences at Novum, Karolinska Institutet, Huddinge, Sweden
    J Med Genet 42:847-51. 2005
    ..Detection of UPD has largely been performed through labour intensive screening of DNA from patients and their parents, using microsatellite markers...
  66. ncbi request reprint A second-generation association study of the 5q31 cytokine gene cluster and the interleukin-4 receptor in asthma
    P Kauppi
    Department of Medicine, Helsinki University Central Hospital, Helsinki, FI-00290, Finland
    Genomics 77:35-42. 2001
    ..Our data support previous findings regarding L4R, indicating that 503P and 576R may act as minor protecting alleles for IgE-mediated disorders...
  67. ncbi request reprint The IL9R region contribution in asthma is supported by genetic association in an isolated population
    P Kauppi
    Department of Medicine, Helsinki University Central Hospital, Finland
    Eur J Hum Genet 8:788-92. 2000
    ..01), and it was found homozygotic among asthma patients more often than expected (Psimul2 = 0.009). Also, a specific X chromosomal haplotype, sDF2*10-sDF1*6 associated with asthma (40 vs 7, Pchi2 < 0.005, Psimul1 = 0.04)...
  68. pmc Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
    H Huopio
    Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland
    J Clin Invest 106:897-906. 2000
    ..In conclusion, we describe the first dominantly inherited SUR1 mutation that causes CHI in early life and predisposes to later insulin deficiency...
  69. ncbi request reprint Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland
    L Sarantaus
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Finland
    Eur J Hum Genet 8:757-63. 2000
    ..An isolated population with known history and multiple local founder effects in multigenic disease may offer distinct advantages also for mapping novel predisposing genes...
  70. ncbi request reprint Cystic fibrosis gene mutations deltaF508 and 394delTT in patients with chronic sinusitis in Finland
    M Hytonen
    Helsinki University ENT Hospital, Helsinki University Central Hospital, Finland
    Acta Otolaryngol 121:945-7. 2001
    ..Routine screening of sinusitis patients for CF mutations provides no additional information on the etiology of chronic sinusitis...
  71. ncbi request reprint Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
    S Ezer
    Department of Medical Genetics, Haartman Institute, National Institute of Aging, Baltimore, MD 21224, USA
    Hum Mol Genet 8:2079-86. 1999
    ..Our results suggest that ectodysplasin is a new member in the TNF-related ligand family involved in the early epithelial-mesenchymal interaction that regulates ectodermal appendage formation...
  72. ncbi request reprint Association analysis for quantitative traits by data mining: QHPM
    P Onkamo
    Karolinska Institute, Department of Biosciences at Novum, SE 14157 Huddinge, Sweden
    Ann Hum Genet 66:419-29. 2002
    ..Comparison with quantitative trait TDT (QTDT) showed that QHPM has better localization accuracy when the gene effect is weak...
  73. ncbi request reprint Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses
    A M Riesewijk
    Max Planck Institut fuer Molekulare Genetik, Berlin Dahlem, Germany
    Genomics 42:236-44. 1997
    ..We demonstrate that this CpG island is methylated in a parent-of-origin-specific manner. All MspI/HpaII sites were unmethylated on the active paternal allele but methylated on the inactive maternal one...
  74. pmc A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families
    H Koillinen
    J Med Genet 42:177-84. 2005
  75. pmc Sex specific protective effects of interleukin-9 receptor haplotypes on childhood wheezing and sensitisation
    E Melen
    J Med Genet 41:e123. 2004
  76. ncbi request reprint A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes
    T Alitalo
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA
    Genomics 25:691-700. 1995
    ..This work provides a starting point for further mapping and positional cloning of several X-linked disease genes...
  77. ncbi request reprint Structure of the human CCG1 gene: relationship between the exons/introns and functional domain/modules of the protein
    T Nakashima
    Department of Molecular Biology, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan
    Gene 141:193-200. 1994
    ..The boundaries of the predicted modules show a close correlation to the intron/exon junction of CCG1. The entire gene, at least 110 kb long, has been recovered in a YAC, which provides a route to the further study of module function...
  78. ncbi request reprint Familial systemic lupus erythematosus in Finland
    S Koskenmies
    Department of Medical Genetics and the Finnish Genome Center, Helsinki University
    J Rheumatol 28:758-60. 2001
    ..CONCLUSION: Our study shows that familial and sporadic SLE are not different disease entities; this means that we can extrapolate the results of future genetic analyses in multiplex SLE families to all patients with SLE...
  79. doi request reprint Association analysis of positional obesity candidate genes based on integrated data from transcriptomics and linkage analysis
    H Jiao
    Department of Biosciences and Nutrition, Clinical Research Center, Karolinska Institutet, Stockholm, Sweden
    Int J Obes (Lond) 32:816-25. 2008
    ..Obesity is a typical complex disorder resulting from behaviors promoted in westernized societies in the presence of a genetic predisposition. We hypothesized that new genes predisposing to obesity can be detected at the mRNA level...
  80. ncbi request reprint Association study of 15 novel single-nucleotide polymorphisms of the T-bet locus among Finnish asthma families
    E Ylikoski
    Centre for Biotechnology, University of Turku and Abo Akademi University, Finland
    Clin Exp Allergy 34:1049-55. 2004
    ..This led us to screen 23 Finnish individuals for single-nucleotide polymorphisms (SNPs) in the T-bet locus and study the association between the SNPs and high serum IgE level and asthma...
  81. ncbi request reprint DYX1C1 functions in neuronal migration in developing neocortex
    Y Wang
    Department of Physiology and Neurobiology, University of Connecticut, Storrs, CT 06268, USA
    Neuroscience 143:515-22. 2006
    ..In conclusion, DYX1C1, similar to two other candidate dyslexia susceptibility genes, functions in neuronal migration in rat neocortex...