Heleen H Arts

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. ncbi C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
    Heleen H Arts
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, 6525 GA, Nijmegen, The Netherlands
    J Med Genet 48:390-5. 2011
  2. ncbi Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations
    Ronald Roepman
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 102:18520-5. 2005
  3. ncbi Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
    Anneke I den Hollander
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 39:889-95. 2007
  4. ncbi Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:418-23. 2010
  5. ncbi Scrutinizing ciliopathies by unraveling ciliary interaction networks
    Jeroen van Reeuwijk
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 20:R149-57. 2011

Collaborators

  • Ronald Roepman
  • Han G Brunner
  • Nine V A M Knoers
  • Nicole de Leeuw
  • Joris A Veltman
  • Alexander Hoischen
  • Elmar Krieger
  • Robert Karel Koenekoop
  • Uwe Wolfrum
  • Jeroen van Reeuwijk
  • Christian Gilissen
  • Anneke I den Hollander
  • Bart van Lier
  • Sarina G Kant
  • Marloes Steehouwer
  • Peer Arts
  • Liesbeth Spruijt
  • Dorus A Mans
  • Erwin Van Wijk
  • Michael E Cheetham
  • Irma Lopez
  • Moin D Mohamed
  • Karsten Boldt
  • Kelly Springell
  • Ilse Gosens
  • Marijke N Zonneveld
  • Yasmin Rashid
  • Katherine V Towns
  • Sharola Dharmaraj
  • C Geoff Woods
  • Sylvia E C van Beersum
  • Kerstin Nagel-Wolfrum
  • Martin McKibbin
  • Chris F Inglehearn
  • Bert van der Zwaag
  • Tina Sedmak
  • Robert K Koenekoop
  • Irene H Maumenee
  • Tim M Strom
  • Hussain Jafri
  • Ferry F J Kersten
  • Monika Beer
  • Frans P M Cremers
  • Lenka Ivings
  • Grange A Williams
  • Marius Ueffing

Detail Information

Publications5

  1. ncbi C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
    Heleen H Arts
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, 6525 GA, Nijmegen, The Netherlands
    J Med Genet 48:390-5. 2011
    ..Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features...
  2. ncbi Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations
    Ronald Roepman
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 102:18520-5. 2005
    ..Thus, we provide evidence for the involvement of this disrupted interaction in the retinal dystrophy of both SLSN and LCA patients...
  3. ncbi Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
    Anneke I den Hollander
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 39:889-95. 2007
    ..Members of this interactome represent candidate genes for LCA and other ciliopathies. Our findings emphasize the emerging role of disrupted ciliary processes in the molecular pathogenesis of LCA...
  4. ncbi Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    Christian Gilissen
    Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 87:418-23. 2010
    ..WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder...
  5. ncbi Scrutinizing ciliopathies by unraveling ciliary interaction networks
    Jeroen van Reeuwijk
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 20:R149-57. 2011
    ....