N S Heiss

Summary

Affiliation: German Cancer Research Center
Country: Germany

Publications

  1. ncbi Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5)
    N S Heiss
    Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany
    Genome Res 6:478-91. 1996
  2. ncbi Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1
    N S Heiss
    Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum DKFZ, Im Neuenheimer Feld 280, Heidelberg, 69120, Germany
    Genomics 67:153-63. 2000
  3. ncbi Genomic structure of a novel LIM domain gene (ZNF185) in Xq28 and comparisons with the orthologous murine transcript
    N S Heiss
    Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Heidelberg, Germany
    Genomics 43:329-38. 1997
  4. ncbi RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients
    P Seranski
    Abt Molekulare Genomanalyse, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120, Heidelberg, Germany
    Gene 270:69-76. 2001
  5. ncbi Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)
    P Kioschis
    Deutsches Krebsforschungszentrum, Molekulare Genomanalyse, Im Neuenheimer Feld 280, Heidelberg, 69120, Germany
    Genomics 54:256-66. 1998
  6. ncbi X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    N S Heiss
    Deutsches Krebsforschungszentrum, Department of Molecular Genome Analysis, Heidelberg, Germany
    Nat Genet 19:32-8. 1998
  7. ncbi Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes
    P Seranski
    Abt Molekulare Genomanalyse, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, Heidelberg, 69120, Germany
    Genomics 56:1-11. 1999
  8. ncbi Genomic structure of a novel chloride channel gene, CLIC2, in Xq28
    N S Heiss
    Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Heidelberg, Germany
    Genomics 45:224-8. 1997
  9. ncbi Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita
    N S Heiss
    Deutsches Krebsforschungszentrum DKFZ, Department of Molecular Genome Analysis, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Hum Mol Genet 8:2515-24. 1999
  10. ncbi Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28
    U C Rogner
    Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany
    Genome Res 6:922-34. 1996

Collaborators

Detail Information

Publications17

  1. ncbi Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5)
    N S Heiss
    Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany
    Genome Res 6:478-91. 1996
    ..Our data facilitated the integration of the transcription map with the physical map around the DXS52 locus. Future analysis of the novel genes as candidates for Barth syndrome (BTHS) and chondrodysplasia punctata (CDPX2) is in progress...
  2. ncbi Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1
    N S Heiss
    Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum DKFZ, Im Neuenheimer Feld 280, Heidelberg, 69120, Germany
    Genomics 67:153-63. 2000
    ..The results indicate that some of the pertinent functions of dyskerin may be more tissue-specific than previously thought and are not limited to rapidly dividing cells...
  3. ncbi Genomic structure of a novel LIM domain gene (ZNF185) in Xq28 and comparisons with the orthologous murine transcript
    N S Heiss
    Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Heidelberg, Germany
    Genomics 43:329-38. 1997
    ..Knowledge of the genomic structure will permit detailed mutation analyses...
  4. ncbi RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients
    P Seranski
    Abt Molekulare Genomanalyse, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120, Heidelberg, Germany
    Gene 270:69-76. 2001
    ..Moreover, the most interesting feature of the gene is the presence of a polymorphic CAG repeat coding for a polyglutamine stretch in the amino terminal domain of the protein...
  5. ncbi Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)
    P Kioschis
    Deutsches Krebsforschungszentrum, Molekulare Genomanalyse, Im Neuenheimer Feld 280, Heidelberg, 69120, Germany
    Genomics 54:256-66. 1998
    ..Knowledge of the genomic sequence will facilitate mutation analyses of the coding and noncoding sequences of MTM1 and MTMR1...
  6. ncbi X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    N S Heiss
    Deutsches Krebsforschungszentrum, Department of Molecular Genome Analysis, Heidelberg, Germany
    Nat Genet 19:32-8. 1998
    ..By analogy to the function of the known dyskerin orthologues, involvement in the cell cycle and nucleolar function is predicted for the protein...
  7. ncbi Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes
    P Seranski
    Abt Molekulare Genomanalyse, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, Heidelberg, 69120, Germany
    Genomics 56:1-11. 1999
    ..Based on their homologies to known genes or proteins, some of the novel genes are considered candidate genes either for malignant diseases or for the Smith-Magenis syndrome...
  8. ncbi Genomic structure of a novel chloride channel gene, CLIC2, in Xq28
    N S Heiss
    Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Heidelberg, Germany
    Genomics 45:224-8. 1997
    ..To facilitate defined mutation analyses, we determined the genomic structure of the CLIC2 gene...
  9. ncbi Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita
    N S Heiss
    Deutsches Krebsforschungszentrum DKFZ, Department of Molecular Genome Analysis, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Hum Mol Genet 8:2515-24. 1999
    ..Further, examination of dyskerin-EGFP fusions mimicking mutations detected in patients indicated that the intracellular mislocalization of dyskerin is unlikely to cause DKC...
  10. ncbi Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28
    U C Rogner
    Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany
    Genome Res 6:922-34. 1996
    ....
  11. ncbi One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC)
    N S Heiss
    Deutsches Krebsforschungszentrum, Department of Molecular Genome Analysis, Heidelberg, Germany
    Genet Couns 12:129-36. 2001
    ..One is a novel mutation in the exon 3 (K43E). The other two represent a frequently recurring mutation in exon 11 (A353V) and a less frequently recurring mutation in the exon 3 (T49M)...
  12. ncbi Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, U K
    Br J Haematol 107:335-9. 1999
    ..Boys with unexplained AA or immunodeficiency should be tested for mutations in DKC1 even though they may lack diagnostic features of DC...
  13. ncbi Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome
    R Yaghmai
    Institute of Genetic Medicine and the Department of Dermatology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 4922, USA
    J Pediatr 136:390-3. 2000
    ..HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop...
  14. pmc X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
    S W Knight
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, United Kingdom
    Am J Hum Genet 65:50-8. 1999
    ..It is apparent that X-linked dyskeratosis congenita is predominantly caused by missense mutations; the precise effect on the function of dyskerin remains to be determined...
  15. ncbi Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier
    T J Vulliamy
    Department of Haematology, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Blood 94:1254-60. 1999
    ..Investigation of her blood cells and other somatic tissues showed that a small proportion of these cells also carried the deletion, making her a somatic mosaic and indicating that the deletion took place early in development...
  16. ncbi Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2
    S Aradhya
    Am J Med Genet 91:241-4. 2000
  17. ncbi Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
    A Smahi
    Department of Genetics, Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERMU 393, Hopital Necker Enfants Malades, Paris, France
    Nature 405:466-72. 2000
    ..Here we show that most cases of IP are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations. As a consequence, NF-kappaB activation is defective in IP cells...