S M Klauck

Summary

Affiliation: German Cancer Research Center
Country: Germany

Publications

  1. ncbi Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry
    Ines Sousa
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Mol Autism 1:7. 2010
  2. ncbi Serotonin transporter (5-HTT) gene variants associated with autism?
    S M Klauck
    Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Hum Mol Genet 6:2233-8. 1997
  3. 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
  4. 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
  5. ncbi Construction of a physical map of an autism susceptibility region in 7q32.3-q33
    K S Beyer
    Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany
    Gene 272:85-91. 2001
  6. ncbi A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor
    K Wilke
    Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany
    Genomics 45:1-10. 1997
  7. 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
  8. ncbi Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI)
    Z Sedlacek
    Deutsches Krebsforschungszentrum, Heidelberg, Germany
    Mamm Genome 5:633-9. 1994
  9. ncbi A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    J Laporte
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM U LP, B P 163, C U de Strasbourg, France
    Nat Genet 13:175-82. 1996
  10. ncbi Analysis of reelin as a candidate gene for autism
    E Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 8:885-92. 2003

Collaborators

  • N S Heiss
  • S Wiemann
  • G E Herman
  • T J Vulliamy
  • F Poustka
  • Joern Groene
  • K P Lesch
  • P J Mason
  • N Dahl
  • A P Monaco
  • E Bonora
  • F Gianfrancesco
  • A Poustka
  • Ines Sousa
  • K S Beyer
  • E Bacchelli
  • Richard Holt
  • Ruud B Minderaa
  • A Smahi
  • Alistair T Pagnamenta
  • Agatino Battaglia
  • Taane G Clark
  • Anthony J Bailey
  • Erik J Mulder
  • P Kioschis
  • K Wilke
  • M Biondolillo
  • E Maestrini
  • F Blasi
  • J Parr
  • A J Bailey
  • G Barnby
  • J A Lamb
  • J Laporte
  • A Israel
  • M D'Urso
  • T Bardaro
  • S Heuertz
  • D Donnai
  • T Jakins
  • G Courtois
  • A Munnich
  • M Levy
  • S J Kenwrick
  • H Woffendin
  • S Aradhya
  • D L Nelson
  • T Yamagata
  • H Stewart
  • T Esposito
  • A Ciccodicola
  • P Vabres
  • R A Lewis
  • S Yamaoka
  • Z Sedlacek
  • R Gaul
  • J L Mandel
  • C Kretz
  • J F Coy
  • L J Hu
  • B Korn
  • D S Konecki

Detail Information

Publications12

  1. ncbi Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry
    Ines Sousa
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Mol Autism 1:7. 2010
    ..Here we present an association study analysing the roles of four promising candidate genes - LRRTM1 (2p), LRRTM3 (10q), LRRN1 (3p) and LRRN3 (7q) - in order to identify common genetic risk factors underlying ASDs...
  2. ncbi Serotonin transporter (5-HTT) gene variants associated with autism?
    S M Klauck
    Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Hum Mol Genet 6:2233-8. 1997
    ..The implications for genetic variants of the serotonin transporter in the etiology of autism and possible subgroups of patients, therefore, needs clarification in further studies with other and larger patient samples...
  3. 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)...
  4. 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...
  5. ncbi Construction of a physical map of an autism susceptibility region in 7q32.3-q33
    K S Beyer
    Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany
    Gene 272:85-91. 2001
    ..As this map contains a putative autistic disorder locus this integrated physical and transcript map provides a valuable resource for identification of candidate gene(s)...
  6. ncbi A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor
    K Wilke
    Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomanalyse, Heidelberg, Germany
    Genomics 45:1-10. 1997
    ....
  7. 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...
  8. ncbi Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI)
    Z Sedlacek
    Deutsches Krebsforschungszentrum, Heidelberg, Germany
    Mamm Genome 5:633-9. 1994
    ..It was found that, similar to several other genes from the region, XAP-4 is split into exons of average size, which are interrupted by very short introns...
  9. ncbi A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    J Laporte
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM U LP, B P 163, C U de Strasbourg, France
    Nat Genet 13:175-82. 1996
    ..At least three other genes, one located within 100 kb distal from the MTM1 gene, encode proteins with very high sequence similarities and define, together with the MTM1 gene, a new family of putative tyrosine phosphatases in man...
  10. ncbi Analysis of reelin as a candidate gene for autism
    E Bonora
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Mol Psychiatry 8:885-92. 2003
    ..The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals...
  11. ncbi Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
    E Bacchelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, University of Bologna, Bologna, Italy
    Mol Psychiatry 8:916-24. 2003
    ..Further studies are needed to clarify the contribution of cAMP-GEFII gene variants to autism susceptibility...
  12. 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...