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Bernhard Weber


CV of Bernhard Weber [pdf]

Scientifc Interest

  • Mechanisms of retinal degeneration
  • Extracellular matrix – cell interaction
  • Genetics of multifactorial diseases
  • Mechanisms of genetic predisposition

Further Activities

  • DNA diagnostics for retinal diseases and familial tumour disposition
  • Genetic counselling


  • American Society of Human Genetics (ASHG)
  • Deutsche Gesellschaft für Humangenetik (GfH)
  • Association for Research in Vision and Ophthalmology (ARVO)
  • Human Genome Organization (HUGO)
  • European Society of Human Genetics (ESHG)
Bernhard Weber
Bernhard Weber

Research Group

Institute of Human Genetics
[more information]


University of Regensburg

Franz-Josef-Strauss-Allee 11
D-93053 Regensburg

Phone: +49-941 944 5400
Fax: +49-941 944 5402



Key Publications

  1. Langmann T, Lai CC, Weigelt K, Tam BM, Warneke-Wittstock R, Moritz OL, Weber BH.
    CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene.
    Nucleic Acids Res. 2008 Nov;36(20):6523-34.
  2. Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH.
    Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.
    Nat Genet. 2008 Jul;40(7):892-6.
  3. Janssen A, Min SH, Molday LL, Tanimoto N, Seeliger MW, Hauswirth WW, Molday RS, Weber BH.
    Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse.
    Mol Ther. 2008 Jun;16(6):1010-7.
  4. Gehrig A, Langmann T, Horling F, Janssen A, Bonin M, Walter M, Poths S, Weber BH.
    Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development.
    Invest Ophthalmol Vis Sci. 2007 Feb;48(2):891-900.
  5. Fisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G, Weber BH.
    Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
    Hum Mutat. 2007 Apr;28(4):406-13.
  6. Milenkovic VM, Rivera A, Horling F, Weber BH.
    Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.
    J Biol Chem. 2007 Jan 12;282(2):1313-21.
  7. Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH.
    Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
    Hum Mol Genet. 2005 Nov 1;14(21):3227-36.
  8. Min SH, Molday LL, Seeliger MW, Dinculescu A, Timmers AM, Janssen A, Tonagel F, Tanimoto N, Weber BH, Molday RS, Hauswirth WW.
    Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis.
    Mol Ther. 2005 Oct;12(4):644-51.
  9. Schulz HL, Goetz T, Kaschkoetoe J, Weber BH.
    The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium.
    BMC Genomics. 2004 Jul 29;5(1):50.
  10. Stöhr H, Stojic J, Weber BH.
    Cellular localization of the MPP4 protein in the mammalian retina.
    Invest Ophthalmol Vis Sci. 2003 Dec;44(12):5067-74.

Research Groups