Beate Skinningsrud

Summary

Affiliation: University of Oslo
Country: Norway

Publications

  1. ncbi Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
    Beate Skinningsrud
    Institute of Medical Genetics, University of Oslo, Department of Medical Genetics, Ullevaal University Hospital, Oslo, Norway
    Eur J Hum Genet 16:977-82. 2008
  2. ncbi Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency
    Beate Skinningsrud
    Department of Medical Genetics, Ulleval University Hospital, University of Oslo, Kirkeveien 166, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 93:3310-7. 2008
  3. ncbi A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, Kirkeveien 166, N 0407 Oslo, Norway
    Ann Rheum Dis 69:1471-4. 2010
  4. ncbi X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 94:4086-93. 2009
  5. ncbi Multiple loci in the HLA complex are associated with Addison's disease
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 96:E1703-8. 2011
  6. ncbi FOXP3 polymorphisms in type 1 diabetes and coeliac disease
    Marit Bjørnvold
    Institute of Medical Genetics, Faculty Division Ulleval University Hospital, University of Oslo, Oslo, Norway
    J Autoimmun 27:140-4. 2006
  7. ncbi CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study
    Monica Cheng Munthe-Kaas
    Department of Paediatrics, Woman Child Division, Ulleval University Hospital, NO 0407 Oslo, Norway
    Respir Med 100:2121-8. 2006
  8. ncbi CTLA-4 polymorphisms in allergy and asthma and the TH1/ TH2 paradigm
    Monica Cheng Munthe-Kaas
    Department of Pediatrics, Ulleval University Hospital, University of Oslo, Norway
    J Allergy Clin Immunol 114:280-7. 2004

Detail Information

Publications8

  1. ncbi Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
    Beate Skinningsrud
    Institute of Medical Genetics, University of Oslo, Department of Medical Genetics, Ullevaal University Hospital, Oslo, Norway
    Eur J Hum Genet 16:977-82. 2008
    ..In conclusion, the 1858T-allele is a PTPN22 genetic susceptibility factor for autoimmune AD. Other rare variants in PTPN22 do occur, and may also be involved in the pathogenesis...
  2. ncbi Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency
    Beate Skinningsrud
    Department of Medical Genetics, Ulleval University Hospital, University of Oslo, Kirkeveien 166, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 93:3310-7. 2008
    ..In this study we aimed to investigate if loci found associated with common autoimmune diseases in recent genome-wide association studies also could be susceptibility loci for autoimmune Addison's disease (primary adrenal insufficiency)...
  3. ncbi A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, Kirkeveien 166, N 0407 Oslo, Norway
    Ann Rheum Dis 69:1471-4. 2010
    ....
  4. ncbi X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 94:4086-93. 2009
    ..OBJECTIVE/PATIENTS: Four males in a family were affected by AHCH. Our aim was to locate the genetic cause of their disease, knowing that they had no mutation in the obvious candidate gene, NR0B1...
  5. ncbi Multiple loci in the HLA complex are associated with Addison's disease
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 96:E1703-8. 2011
    ..Recent evidence from other autoimmune diseases has suggested that class I-encoded HLA-A and HLA-B gene variants confer HLA-DRB1-DQA1-DQB1-independent effects on disease...
  6. ncbi FOXP3 polymorphisms in type 1 diabetes and coeliac disease
    Marit Bjørnvold
    Institute of Medical Genetics, Faculty Division Ulleval University Hospital, University of Oslo, Oslo, Norway
    J Autoimmun 27:140-4. 2006
    ..On the other hand, we were unable to reproduce our initial findings in the T1D case-control dataset (global p=0.6). Our results suggest that the tested FOXP3 markers do not have any major impact on susceptibility for these diseases...
  7. ncbi CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study
    Monica Cheng Munthe-Kaas
    Department of Paediatrics, Woman Child Division, Ulleval University Hospital, NO 0407 Oslo, Norway
    Respir Med 100:2121-8. 2006
    ..Mutations in the CFTR gene result in derangements of mucociliary clearance. Homozygotes for CFTR mutations develop cystic fibrosis (CF), a disorder characterized mainly by lung and pancreas disease...
  8. ncbi CTLA-4 polymorphisms in allergy and asthma and the TH1/ TH2 paradigm
    Monica Cheng Munthe-Kaas
    Department of Pediatrics, Ulleval University Hospital, University of Oslo, Norway
    J Allergy Clin Immunol 114:280-7. 2004
    ..This region harbors the candidate gene cytotoxic T-lymphocyte antigen 4 (CTLA-4), an important regulator of T-cell activation and differentiation...