Heleen H Arts

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. doi request reprint 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. doi request reprint Early presentation of cystic kidneys in a family with a homozygous INVS mutation
    Machteld M Oud
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet A 164:1627-34. 2014
  3. pmc 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
  4. ncbi request reprint 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
  5. pmc 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
  6. pmc Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
    Miriam Schmidts
    Molecular Medicine Unit, Birth Defects Research Centre, University College London UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    J Med Genet 50:309-23. 2013
  7. doi request reprint 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
  8. pmc A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
    Machteld M Oud
    Department of Human Genetics 855, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Cilia 5:8. 2016
  9. pmc Current insights into renal ciliopathies: what can genetics teach us?
    Heleen H Arts
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands
    Pediatr Nephrol 28:863-74. 2013

Collaborators

  • Ronald Roepman
  • Han G Brunner
  • Nicole de Leeuw
  • Alexander Hoischen
  • Hane Lee
  • Joris A Veltman
  • Elmar Krieger
  • Robert Karel Koenekoop
  • Nine V A M Knoers
  • Uwe Wolfrum
  • Machteld M Oud
  • Christian Gilissen
  • Jeroen van Reeuwijk
  • Ernie M H F Bongers
  • Miriam Schmidts
  • Dorus A Mans
  • Anneke I den Hollander
  • C Anthony Rupar
  • Ascia Eskin
  • Bruno Reversade
  • H lya Kayserili
  • Nathalie P de Wagenaar
  • Piya Lahiry
  • Sumanty Tohari
  • Byrappa Venkatesh
  • Gregory J Pazour
  • Robert A Hegele
  • Alvin Yu Jin Ng
  • Ka Man Wu
  • Carine Bonnard
  • Victoria M Siu
  • Umut Altunoglu
  • Stanley F Nelson
  • Bregje W van Bon
  • Suzanne J J Mol
  • Carlo L Marcelis
  • Geert Mortier
  • Jan Bart L Yntema
  • Diana Wellesley
  • Hulya Kayserili
  • Nel Roeleveld
  • Nursel Elcioglu
  • Zhimin Yap
  • Raoul C M Hennekam
  • Philip L Beales
  • Nienke E Verbeek
  • Anna Kutkowska-Kazmierczak
  • Andrea Superti-Furga
  • Vincent Plagnol
  • Lonneke Duijkers
  • Dinu Antony
  • Hannah M Mitchison
  • Ekkehart Lausch
  • Luitgard M Graul-Neumann
  • Sarah F Smithson
  • Richard D Emes
  • Erik Jan Kamsteeg
  • Merel C Van Maarle
  • Koenraad Devriendt
  • Jim Stalker
  • Peter J Scambler
  • Elisabeth Forsythe
  • Peer Arts
  • Sarina G Kant
  • Bart van Lier
  • Liesbeth Spruijt
  • Marloes Steehouwer
  • Kelly Springell
  • Kerstin Nagel-Wolfrum
  • Tim M Strom
  • Irene H Maumenee
  • Michael E Cheetham
  • Marius Ueffing
  • Hussain Jafri
  • Tina Sedmak
  • C Geoff Woods
  • Moin D Mohamed
  • Ferry F J Kersten
  • Frans P M Cremers
  • Yasmin Rashid
  • Martin McKibbin
  • Karsten Boldt
  • Sylvia E C van Beersum
  • Irma Lopez
  • Grange A Williams
  • Robert K Koenekoop
  • Lenka Ivings
  • Marijke N Zonneveld
  • Bert van der Zwaag
  • Katherine V Towns

Detail Information

Publications9

  1. doi request reprint 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. doi request reprint Early presentation of cystic kidneys in a family with a homozygous INVS mutation
    Machteld M Oud
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet A 164:1627-34. 2014
    ..We also identified that the fetuses had mild skeletal abnormalities, including shortening and bowing of long bones, which may expand the phenotypic spectrum associated with INVS mutations...
  3. pmc 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...
  4. ncbi request reprint 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...
  5. pmc 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...
  6. pmc Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
    Miriam Schmidts
    Molecular Medicine Unit, Birth Defects Research Centre, University College London UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    J Med Genet 50:309-23. 2013
    ..Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis...
  7. doi request reprint 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
    ....
  8. pmc A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
    Machteld M Oud
    Department of Human Genetics 855, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Cilia 5:8. 2016
    ..In this study, we present a novel homozygous ICK mutation in a fetus with ECO syndrome and compare the effect of this mutation with the previously reported ICK variant on ciliogenesis and cilium morphology...
  9. pmc Current insights into renal ciliopathies: what can genetics teach us?
    Heleen H Arts
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands
    Pediatr Nephrol 28:863-74. 2013
    ....