A Nikoshkov

Summary

Country: Sweden

Publications

  1. ncbi A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase
    A Nikoshkov
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    J Immunol 162:2422-6. 1999
  2. ncbi Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor
    Y Lundberg Giwercman
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Horm Res 53:83-8. 2000
  3. ncbi Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21)
    S Lajic
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, 171 76, Sweden
    Biochem Biophys Res Commun 257:384-90. 1999
  4. ncbi Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability
    A Nikoshkov
    Department of Molecular Medicine, Karolinska Hospital, S 171 76, Stockholm, Sweden
    J Biol Chem 273:6163-5. 1998
  5. ncbi A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility
    Y L Giwercman
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Clin Endocrinol (Oxf) 54:827-34. 2001
  6. ncbi A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
    S Lajic
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 99:704-9. 1997
  7. ncbi Structure and transcription regulation of the human insulin-like growth factor binding protein 4 gene (IGFBP4)
    H Zazzi
    Department of Molecular Medicine, Rolf Luft Center for Diabetes Research, Karolinska Hospital, Stockholm, Sweden
    Genomics 49:401-10. 1998
  8. ncbi Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK rats
    H Fakhrai-Rad
    Karolinska Institutet, Center for Molecular Medicine, Department of Molecular Medicine, Karolinska Hospital, L602, S 171 76 Stockholm, Sweden
    Hum Mol Genet 9:2149-58. 2000
  9. ncbi Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency
    A Nikoshkov
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    J Clin Endocrinol Metab 82:194-9. 1997
  10. ncbi Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome
    Y Lundberg Giwercman
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 103:529-31. 1998

Collaborators

Detail Information

Publications10

  1. ncbi A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase
    A Nikoshkov
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    J Immunol 162:2422-6. 1999
    ..We conclude that the region involving R483 plays a key role in the formation of a three-dimensional epitope in a functionally important C-terminal domain of the enzyme...
  2. ncbi Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor
    Y Lundberg Giwercman
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Horm Res 53:83-8. 2000
    ..Thus, patients with specific mutations in the DNA-binding domain of the androgen receptor may benefit from androgen treatment...
  3. ncbi Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21)
    S Lajic
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, 171 76, Sweden
    Biochem Biophys Res Commun 257:384-90. 1999
    ..They also confirm that P30Q is responsible for the severe phenotype of the patient in which it was found, and indicate that the common delL10 polymorphism does not have a major effect on enzyme function...
  4. ncbi Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability
    A Nikoshkov
    Department of Molecular Medicine, Karolinska Hospital, S 171 76, Stockholm, Sweden
    J Biol Chem 273:6163-5. 1998
    ..These results directly link the clinical situation with the three mutations and suggest that G291 is important for the catalytic activity of P450c21...
  5. ncbi A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility
    Y L Giwercman
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Clin Endocrinol (Oxf) 54:827-34. 2001
    ..Resistance to androgens has been suggested as a possible cause of male infertility. This hypothesis is based mainly on binding studies in genital skin fibroblasts but the molecular evidence is sparse...
  6. ncbi A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
    S Lajic
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 99:704-9. 1997
    ..This supports the model in which this protein domain is involved in redox partner interaction, which takes places through electrostatic interactions between charged amino acid residues...
  7. ncbi Structure and transcription regulation of the human insulin-like growth factor binding protein 4 gene (IGFBP4)
    H Zazzi
    Department of Molecular Medicine, Rolf Luft Center for Diabetes Research, Karolinska Hospital, Stockholm, Sweden
    Genomics 49:401-10. 1998
    ..Stimulation with 0.5 mM dibutyryl-cAMP resulted in a twofold increase of promoter activity. Elements responsible for the cAMP response reside between positions -869 and -6...
  8. ncbi Insulin-degrading enzyme identified as a candidate diabetes susceptibility gene in GK rats
    H Fakhrai-Rad
    Karolinska Institutet, Center for Molecular Medicine, Department of Molecular Medicine, Karolinska Hospital, L602, S 171 76 Stockholm, Sweden
    Hum Mol Genet 9:2149-58. 2000
    ..Analysis of additional rat strains demonstrated that the dysfunctional IDE: allele was unique to GK. These data point to an important role for IDE: in the diabetic phenotype in GK...
  9. ncbi Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency
    A Nikoshkov
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    J Clin Endocrinol Metab 82:194-9. 1997
    ....
  10. ncbi Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome
    Y Lundberg Giwercman
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 103:529-31. 1998
    ..The in vitro functions of the R840G and M895T mutants were improved with supraphysiological concentrations of steroid...