A A B Bergen

Summary

Affiliation: Netherlands Institute of Ecology
Country: The Netherlands

Publications

  1. pmc Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity
    A A Bergen
    The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
    Am J Hum Genet 60:1468-73. 1997
  2. ncbi Mutations in ABCC6 cause pseudoxanthoma elasticum
    A A Bergen
    The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
    Nat Genet 25:228-31. 2000
  3. ncbi ABCC6 and pseudoxanthoma elasticum
    Arthur A B Bergen
    Department of Clinical and Molecular Ophthalmogenetics, Amsterdam, The Netherlands
    Pflugers Arch 453:685-91. 2007
  4. ncbi Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth
    Arthur A B Bergen
    Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
    J Invest Dermatol 126:704-5. 2006
  5. ncbi [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene]
    A A B Bergen
    Interuniversitair Oogheelkundig Instituut, Meibergdreef 47, 11o05 BA Amsterdam
    Ned Tijdschr Geneeskd 148:1586-9. 2004
  6. ncbi [From gene to disease; primary open-angle glaucoma and three known genes: MYOC, CYP1B1 and OPTN]
    A A B Bergen
    Interuniversitair Oogheelkundig Instituut, Meibergdreef 47, 1105 BA Amsterdam
    Ned Tijdschr Geneeskd 148:1343-4. 2004
  7. ncbi [Changing perception of hereditary eye diseases]
    A S Plomp
    Klinisch geneticus, Interuniversitair Oogheelkundig Instituut KNAW, Meibergdreef 47, 1105 BA Amsterdam
    Ned Tijdschr Geneeskd 146:345-50. 2002
  8. ncbi Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Accession #Hm0541
    J F F Brinkmann
    Department of Clinical and Molecular Ophthalmogenetics, Division of Development, Aging and Genetic Diseases of the Eye, The Netherlands Ophthalmic Research Institute, KNAW, Meibergdreef 47, 1105 Amsterdam, The Netherlands
    Hum Genet 118:779. 2006
  9. pmc Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
    J C Booij
    Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Arts and Sciences, Amsterdam, Netherlands
    J Med Genet 42:e67. 2005
  10. doi The dynamic nature of Bruch's membrane
    J C Booij
    Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute of Neurosciences NIN, an institute of the Royal Netherlands Academy of Arts and Sciences KNAW, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands
    Prog Retin Eye Res 29:1-18. 2010

Collaborators

Detail Information

Publications38

  1. pmc Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity
    A A Bergen
    The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
    Am J Hum Genet 60:1468-73. 1997
    ..All other regions on the chromosome could be excluded. Since this novel locus is distinct from previously identified genes or regions involved in XLPCD, we further establish genetic heterogeneity underlying this disease entity...
  2. ncbi Mutations in ABCC6 cause pseudoxanthoma elasticum
    A A Bergen
    The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
    Nat Genet 25:228-31. 2000
    ..Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6 (formerly MRP6) associated with all genetic forms of PXE in seven patients or families...
  3. ncbi ABCC6 and pseudoxanthoma elasticum
    Arthur A B Bergen
    Department of Clinical and Molecular Ophthalmogenetics, Amsterdam, The Netherlands
    Pflugers Arch 453:685-91. 2007
    ..2005) 14:1763-1773; Klement et al. (2005) 25:8299-8310], which may be useful to elucidate the precise function of Abcc6 and to develop experimental therapies...
  4. ncbi Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth
    Arthur A B Bergen
    Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
    J Invest Dermatol 126:704-5. 2006
    ....
  5. ncbi [From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene]
    A A B Bergen
    Interuniversitair Oogheelkundig Instituut, Meibergdreef 47, 11o05 BA Amsterdam
    Ned Tijdschr Geneeskd 148:1586-9. 2004
    ..In 80% of the 110 PXE patients the authors studied, at least one ABCC6 mutation was found. Molecular diagnostics of PXE is especially useful to confirm the clinical diagnosis...
  6. ncbi [From gene to disease; primary open-angle glaucoma and three known genes: MYOC, CYP1B1 and OPTN]
    A A B Bergen
    Interuniversitair Oogheelkundig Instituut, Meibergdreef 47, 1105 BA Amsterdam
    Ned Tijdschr Geneeskd 148:1343-4. 2004
    ..The three genes known to be involved in POAG (MYOC, CYP1B1 and OPTN) account for up to 18% of the POAG cases. These findings result in new possibilities for the presymptomatic molecular diagnosis of POAG...
  7. ncbi [Changing perception of hereditary eye diseases]
    A S Plomp
    Klinisch geneticus, Interuniversitair Oogheelkundig Instituut KNAW, Meibergdreef 47, 1105 BA Amsterdam
    Ned Tijdschr Geneeskd 146:345-50. 2002
    ..Particularly if there is genetic heterogeneity or multifactorial inheritance, possibilities for counselling and DNA analysis remain limited...
  8. ncbi Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Accession #Hm0541
    J F F Brinkmann
    Department of Clinical and Molecular Ophthalmogenetics, Division of Development, Aging and Genetic Diseases of the Eye, The Netherlands Ophthalmic Research Institute, KNAW, Meibergdreef 47, 1105 Amsterdam, The Netherlands
    Hum Genet 118:779. 2006
  9. pmc Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
    J C Booij
    Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Arts and Sciences, Amsterdam, Netherlands
    J Med Genet 42:e67. 2005
    ..To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa...
  10. doi The dynamic nature of Bruch's membrane
    J C Booij
    Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute of Neurosciences NIN, an institute of the Royal Netherlands Academy of Arts and Sciences KNAW, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands
    Prog Retin Eye Res 29:1-18. 2010
    ..Our review may shed light on the complex involvement of BM in retinal pathology, notably age-related macular degeneration...
  11. pmc Global gene expression profiling of ischemic preconditioning in the rat retina
    W Kamphuis
    Department of Ophthalmogenetics, Netherlands Institute for Neuroscience, Amsterdam, The Netherlands
    Mol Vis 13:1020-30. 2007
    ..To obtain and analyze the gene expression changes after ischemic preconditioning (IPC) in the rat retina...
  12. ncbi Gene symbol: CYP1B1. Disease: Glaucoma, primary congenital. Accession #Hd0513
    J F F Brinkmann
    Department of Clinical and Molecular Ophthalmogenetics, Division of Development, Aging and Genetic Diseases of the Eye, The Netherlands Ophthalmic Research Institute, KNAW, Meibergdreef 47, 1105 Amsterdam, The Netherlands
    Hum Genet 118:775. 2006
  13. pmc Transfer of lens-specific transcripts to retinal RNA samples may underlie observed changes in crystallin-gene transcript levels after ischemia
    Willem Kamphuis
    Department of Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience KNAW, Amsterdam, The Netherlands
    Mol Vis 13:220-8. 2007
    ..Our purpose is to study whether these alterations are truly the result of retinal ischemia or whether they could be caused by contamination of the retinal tissue with trace amounts of lens tissue...
  14. ncbi GAP-43 expression is upregulated in retinal ganglion cells after ischemia/reperfusion-induced damage
    Frederike Dijk
    Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience NIN, KNAW, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands
    Exp Eye Res 84:858-67. 2007
    ..These findings suggest a temporal window during which ganglion cells may remodel their neuronal network in the damaged retina...
  15. ncbi Comparison of human retinal pigment epithelium gene expression in macula and periphery highlights potential topographic differences in Bruch's membrane
    Simone S van Soest
    Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences KNAW, Meibergdreef, Amsterdam, The Netherlands
    Mol Vis 13:1608-17. 2007
    ..To describe gene expression differences between healthy, young human retinal pigment epithelium (RPE) cells from the macular area and RPE cells from two locations in the retinal periphery...
  16. ncbi Ischemic preconditioning alters the pattern of gene expression changes in response to full retinal ischemia
    Willem Kamphuis
    Department of Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences KNAW, Amsterdam, The Netherlands
    Mol Vis 13:1892-901. 2007
    ....
  17. pmc Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration
    Dominiek D G Despriet
    Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences KNAW, Amsterdam, The Netherlands
    Invest Ophthalmol Vis Sci 49:364-71. 2008
    ..To determine whether variants in the candidate genes TLR4, CCL2, and CCR2 are associated with age-related macular degeneration (AMD)...
  18. pmc ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones
    Astrid S Plomp
    Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    Mol Vis 14:118-24. 2008
    ..Up to now, the literature reports that there are 180 different ABCC6 mutations in PXE. The purpose of this paper is to report eight novel mutations in ABCC6 and to update the spectrum and frequency of ABCC6 mutations in PXE patients...
  19. pmc Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders
    Egbert J W Redeker
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, TheNetherlands
    Mol Vis 14:836-40. 2008
    ..The mutation detection rate will increase from 49% to 60%. This shows that MLPA substantially enhances the molecular diagnosis of aniridia...
  20. pmc Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
    John Neidhardt
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland
    Mol Vis 14:1081-93. 2008
    ..The goal of this study was to identify mutations in X-chromosomal genes associated with retinitis pigmentosa (RP) in patients from Germany, The Netherlands, Denmark, and Switzerland...
  21. pmc Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa
    Andrew J Lotery
    Human Genetics Division, University of Southampton, Southampton, Hampshire, United Kingdom
    Hum Mutat 27:568-74. 2006
    ..Such knowledge may ultimately lead to the development of novel therapies for this common disease...
  22. ncbi Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the Rotterdam Study
    Caroline A A Hulsman
    Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands
    Graefes Arch Clin Exp Ophthalmol 240:468-74. 2002
    ..To investigate the prevalence of myocilin (MYOC) mutations in a population-based sample of open-angle glaucoma (OAG) cases and to describe a family with both juvenile and adult onset OAG caused by a mutation in MYOC...
  23. ncbi Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells
    Emese Sinkó
    Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary
    Biochem Biophys Res Commun 308:263-9. 2003
    ..The polarized mammalian expression system characterized here provides a useful tool for further examination of routing, glycosylation, and function of the normal and pathological variants of human ABCC6...
  24. ncbi A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene
    Janneke J C van Lith-Verhoeven
    Department of Ophthalmology, University Medical Center Nijmegen, The Netherlands
    Arch Ophthalmol 121:1452-7. 2003
    ..To describe the clinical and genetic findings in a family with a peculiar autosomal dominant macular dystrophy with peripheral deposits...
  25. ncbi Does autosomal dominant pseudoxanthoma elasticum exist?
    Astrid S Plomp
    The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
    Am J Med Genet A 126:403-12. 2004
    ..AD inheritance in PXE may exist, but is both after careful literature study and in our patient material much rarer than previously thought...
  26. ncbi Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update
    Xiaofeng Hu
    Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
    Surv Ophthalmol 48:424-38. 2003
    ..One of these sites is Bruch's membrane. This review is an update on etiology of pseudoxanthoma elasticum, including its clinical and genetic features, pathogenesis, and biomolecular basis...
  27. ncbi Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum
    Xiaofeng Hu
    Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Art and Sciences KNAW, Amsterdam, The Netherlands
    Invest Ophthalmol Vis Sci 44:1824-9. 2003
    ..To characterize the ABCC6 R1141X nonsense mutation, which is implicated in more than 25% of a cohort of patients from The Netherlands with pseudoxanthoma elasticum (PXE)...
  28. ncbi Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum
    Xiaofeng Hu
    Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
    Genet Test 8:292-300. 2004
    ..7%) out of 89 mutant alleles could be detected within a week. We conclude that this strategy leads to both reliable and time-saving screening for mutations in the ABCC6 gene in sporadic cases and in families with PXE...
  29. ncbi Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype
    Jurgen J Wegman
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands
    Int J Cardiol 100:389-93. 2005
    ..The objective of our study was to determine if skin and/or eye abnormalities related to a PXE phenotype could be found in patients with premature coronary artery disease, with and without the R1141X mutation...
  30. ncbi Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum
    Theo G M F Gorgels
    Department of Molecualr and Clinical Ophthalmogenetics, The Netherlands Ophthalmic Research Institute NORI, Amsterdam, The Netherlands
    Hum Mol Genet 14:1763-73. 2005
    ..Our data support the hypothesis that PXE is in fact a systemic disease...
  31. ncbi VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma
    Joep F F Brinkman
    Division of Development, Aging and Genetic Diseases of the Eye, Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, The Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    Mol Vis 11:582-6. 2005
    ..We subsequently analyzed whether or not sequence changes in VAMP5 or VAMP8 were implicated in POAG...
  32. ncbi ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
    Xiaofeng Hu
    Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands
    Eur J Hum Genet 11:215-24. 2003
    ..The consequences of our data for the molecular pathology of PXE are discussed...
  33. ncbi Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease
    Mieke D Trip
    Department of Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Circulation 106:773-5. 2002
    ..Given the association between CVD and PXE, we hypothesized that heterozygosity of this ABCC6 mutation could also confer an increased risk for CVD...
  34. ncbi MRP6 (ABCC6) detection in normal human tissues and tumors
    George L Scheffer
    Department of Pathology, Free University Medical Center, Amsterdam, The Netherlands
    Lab Invest 82:515-8. 2002
  35. ncbi In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation
    Lilian Kornet
    Department of Physiology, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands
    Ultrasound Med Biol 30:1041-8. 2004
    ..These alterations might be explained by the elastin fragmentation and proteoglycans accumulation as observed in these patients...
  36. pmc Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome
    Theo G M F Gorgels
    Department of Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands
    Mol Cell Biol 27:1433-41. 2007
    ....
  37. ncbi New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands
    Ralph J Florijn
    Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    Eur J Hum Genet 14:986-90. 2006
    ..We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders...
  38. ncbi A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study
    Isabella Kardys
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    J Am Coll Cardiol 47:1568-75. 2006
    ..This study was designed to investigate the association between a common polymorphism (Tyr402His, rs1061170) in the complement factor H (CFH) gene and risk of coronary heart disease...