B H Weber

Summary

Country: Germany

Publications

  1. pmc The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium
    Heidi L Schulz
    Institute of Human Genetics, Biocenter, University of Wuerzburg, D 97074 Wuerzburg, Germany
    BMC Genomics 5:50. 2004
  2. ncbi A mouse model for Sorsby fundus dystrophy
    Bernhard H F Weber
    Institute of Human Genetics, Biocenter, University of Wuerzburg, Germany
    Invest Ophthalmol Vis Sci 43:2732-40. 2002
  3. pmc Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
    Bernhard H F Weber
    Institute of Human Genetics, Biocenter, University of Wurzburg, D 97074 Wurzburg, Germany
    Proc Natl Acad Sci U S A 99:6222-7. 2002
  4. ncbi Recent advances in the molecular genetics of hereditary retinal dystrophies with primary involvement of the macula
    B H Weber
    Institut für Humangenetik der Universität, Biozentrum, Wurzburg, Deutschland
    Acta Anat (Basel) 162:65-74. 1998
  5. ncbi Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
    A Marquardt
    Institut fur Humangenetik, Universitat Wurzburg, D 97074 Wurzburg, Germany
    Hum Mol Genet 7:1517-25. 1998
  6. ncbi Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins
    H Stohr
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Wurzburg, D 97074, Germany
    Genomics 74:377-84. 2001
  7. ncbi Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes
    N Mah
    Institut fuer Humangenetik, Biozentrum, Universitaet Wuerzburg, D 97074, Wuerzburg, Germany
    Biochim Biophys Acta 1522:167-74. 2001
  8. pmc A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
    A Rivera
    Institut fur Humangenetik, Universitat Wurzburg, D 97074 Wurzburg, Germany
    Am J Hum Genet 67:800-13. 2000
  9. ncbi cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family
    A Marquardt
    Institute of Human Genetics, University of Wurzburg, Wurzburg, 97074, Germany
    Genomics 66:175-83. 2000
  10. ncbi Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
    U Felbor
    Institute of Human Genetics, University Eye Hospital, University of Wurzburg, Germany
    Arch Ophthalmol 115:1569-71. 1997

Collaborators

Detail Information

Publications38

  1. pmc The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium
    Heidi L Schulz
    Institute of Human Genetics, Biocenter, University of Wuerzburg, D 97074 Wuerzburg, Germany
    BMC Genomics 5:50. 2004
    ..To obtain insight into intrinsic processes of the retina, great efforts are directed towards the identification and characterization of transcripts with functional relevance to this tissue...
  2. ncbi A mouse model for Sorsby fundus dystrophy
    Bernhard H F Weber
    Institute of Human Genetics, Biocenter, University of Wuerzburg, Germany
    Invest Ophthalmol Vis Sci 43:2732-40. 2002
    ..To facilitate in vivo investigation of mutant TIMP3, the authors generated a knock-in mouse carrying a disease-related Ser156Cys mutation in the orthologous murine Timp3 gene...
  3. pmc Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
    Bernhard H F Weber
    Institute of Human Genetics, Biocenter, University of Wurzburg, D 97074 Wurzburg, Germany
    Proc Natl Acad Sci U S A 99:6222-7. 2002
    ....
  4. ncbi Recent advances in the molecular genetics of hereditary retinal dystrophies with primary involvement of the macula
    B H Weber
    Institut für Humangenetik der Universität, Biozentrum, Wurzburg, Deutschland
    Acta Anat (Basel) 162:65-74. 1998
    ....
  5. ncbi Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
    A Marquardt
    Institut fur Humangenetik, Universitat Wurzburg, D 97074 Wurzburg, Germany
    Hum Mol Genet 7:1517-25. 1998
    ..In conclusion, our data provide strong evidence that mutations in the gene that we have identified cause Best's disease...
  6. ncbi Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins
    H Stohr
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Wurzburg, D 97074, Germany
    Genomics 74:377-84. 2001
    ..Colocalization of MPP4 and autosomal recessive retinitis pigmentosa 26 (RP26) on chromosome 2q31-q33 makes this transcript an attractive candidate for the disease gene...
  7. ncbi Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes
    N Mah
    Institut fuer Humangenetik, Biozentrum, Universitaet Wuerzburg, D 97074, Wuerzburg, Germany
    Biochim Biophys Acta 1522:167-74. 2001
    ..Comparison of interchromosomal sequence variation with the sequences of expressed transcripts suggests that the gene is transcribed in the human retina from at least four different chromosomes...
  8. pmc A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
    A Rivera
    Institut fur Humangenetik, Universitat Wurzburg, D 97074 Wurzburg, Germany
    Am J Hum Genet 67:800-13. 2000
    ..This represents no significant difference between the two groups; however, for detection of modest effects of rare alleles in complex diseases, the analysis of larger cohorts of patients may be required...
  9. ncbi cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family
    A Marquardt
    Institute of Human Genetics, University of Wurzburg, Wurzburg, 97074, Germany
    Genomics 66:175-83. 2000
    ..Protein database searches identified FADS1, FADS2, and FADS3 as fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion...
  10. ncbi Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
    U Felbor
    Institute of Human Genetics, University Eye Hospital, University of Wurzburg, Germany
    Arch Ophthalmol 115:1569-71. 1997
    ..In addition, we have reevaluated the question of variable SFD phenotypes by analyzing the available clinical data on carriers of the Ser181Cys mutation...
  11. ncbi EST mining of the UniGene dataset to identify retina-specific genes
    H Stohr
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Wurzburg, Germany
    Cytogenet Cell Genet 91:267-77. 2000
    ..Multiple C18orf2 transcripts display a complex pattern of differential splicing in the human retina. The various isoforms encode hypothetical polypeptides with no homologies to known proteins or protein motifs...
  12. pmc A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy
    U Felbor
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany
    J Med Genet 33:233-6. 1996
    ..In addition, all known mutations cause a change of an amino acid to a cysteine residue. This suggests a critical role for the additional C-terminal free thiol group in SFD pathogenesis...
  13. pmc Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration
    C G Sauer
    Institute of Human Genetics, , Germany
    Br J Ophthalmol 85:969-75. 2001
    ..However, a possible connection between the variants and age related retinal pathology cannot be discarded. Functional studies are needed to clarify the role of GPR75 in retinal physiology...
  14. ncbi VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies
    K White
    Institut fur Humangenetik, Universitat Wurzburg, Wurzburg, Germany
    Hum Mutat 15:301-8. 2000
    ..Results of analysis in two large series of individuals with age-related macular degeneration (AMD) suggest that VMD2 does not play a major role in this prevalent disorder...
  15. pmc Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1)
    A Gehrig
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany
    J Med Genet 35:641-5. 1998
    ..However, as the autosomal dominant Stargardt-like macular dystrophies are genetically heterogeneous, other forms of this disorder, in particular STGD3 previously linked to 6q, may be caused by mutations in IMPG1...
  16. ncbi Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene
    A E Gehrig
    Institut fur Humangenetik, Biozentrum, Am Hubland, Universitat Wurzburg, 97074 Wurzburg, Germany
    Mamm Genome 10:303-7. 1999
    ....
  17. ncbi [Genetics of macular degeneration]
    B H Weber
    Institut fur Humangenetik, Biozentrum, Julius Maximilians Universitat, Wurzburg
    Klin Monbl Augenheilkd 210:aA9-17. 1997
    ..This will be most important for clinical diagnosis, management and treatment of patients with macular degenerations...
  18. ncbi Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis
    A Gehrig
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany
    Clin Genet 55:461-5. 1999
    ..We did not find mutations in any of the senile retinoschisis patients and conclude that senile retinoschisis is not the result of germline mutations in the RS1 gene...
  19. ncbi Evaluation of DHPLC in the analysis of hemophilia A
    J Oldenburg
    Department of Human Genetics, University of Wurzburg, Biozentrum, Am Hubland, D 97074, Wurzburg, Germany
    J Biochem Biophys Methods 47:39-51. 2001
    ..4%), dHPLC facilitated the detection of the disease-associated nucleotide alterations. From these findings we conclude that the dHPLC technology is a highly sensitive method well suited to the molecular analysis of hemophilia A...
  20. ncbi Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1)
    H Stohr
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Germany
    Hum Genet 104:99-105. 1999
    ..Mutational analysis of the entire coding region of DAGK3 in 19 unrelated German OPA1 patients has not revealed any disease-causing mutations, therefore excluding DAGK3 as a major cause underlying OPA1...
  21. ncbi Characterization of ATM gene mutations in 66 ataxia telangiectasia families
    N Sandoval
    Department of Genome Analysis, Institute of Molecular Biotechnology, Jena, Germany, Institute of Human Genetics, Medical School Hannover, D 30625 Hannover, Germany
    Hum Mol Genet 8:69-79. 1999
    ..In summary, our results survey and characterize a plethora of variations in the ATM gene identified by exon scanning sequencing and indicate a high diversity of mutations giving rise to AT in a non-isolated population...
  22. ncbi Isolation of a Drosophila T-box gene closely related to human TBX1
    M Porsch
    Lehrstuhl fur Genetik, Theodor Boveri Institut, Biozentrum, Am Hubland, D 97074, Wurzburg, Germany
    Gene 212:237-48. 1998
    ..We localized TBX1 to chromosomal band 22q11, confirming a recent report, and discuss TBX1 as a candidate gene for DiGeorge and related syndromes...
  23. ncbi Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter
    B H Weber
    Institut fur Humangenetik, Biozentrum, Wurzburg, Germany
    Nat Genet 7:158-61. 1994
    ..After exclusion of approximately 65% of the autosomal genome, we found significant linkage to several markers from chromosome 22. Recombinant chromosomes sublocalize the SFD gene to 22q13-qter between D22S275 and D22S274...
  24. pmc A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1
    H Stohr
    Institute of Human Genetics, University of Wurzburg, Germany
    Genome Res 8:48-56. 1998
    ..The GenBank/EMBL accession numbers and details of the isolation, localization, and characterization of ESTs and selected cDNAs are available as online supplements in Online Tables 1-3 at http://www.genome.org.]..
  25. ncbi Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    B H Weber
    Institut fur Humangenetik, Biozentrum, Wurzburg, Germany
    Nat Genet 8:352-6. 1994
    ..We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees. These mutations are predicted to disrupt the tertiary structure and thus the functional properties of the mature protein...
  26. ncbi Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells
    L L Molday
    Department of Biochemistry and Molecular Biology, University of British Columbia, 2146 Health Sciences Mall, Vancouver, British Columbia V6T 1Z3, Canada
    Invest Ophthalmol Vis Sci 42:816-25. 2001
    ..The secreted complex associates with the surface of these cells, where it may function as a cell adhesion protein to maintain the integrity of the central and peripheral retina...
  27. ncbi Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes
    S D Wijesuriya
    Department of Molecular Genetics, Institute of Ophthalmology, Southampton, UK
    Genome Res 6:92-101. 1996
    ....
  28. pmc Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance
    U Felbor
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Am J Hum Genet 60:57-62. 1997
    ..Considering all available data, we suggest that SFD is a genetically homogeneous, autosomal dominant condition...
  29. ncbi L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus
    H P Scholl
    Department of Experimental Ophthalmology, University Eye Hospital, , , Germany
    Invest Ophthalmol Vis Sci 42:1380-9. 2001
    ..The phase changes are similar to those found in patients with retinitis pigmentosa and possibly are a general feature of retinal dystrophies...
  30. ncbi Positional cloning of the gene associated with X-linked juvenile retinoschisis
    C G Sauer
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Nat Genet 17:164-70. 1997
    ..These data provide strong evidence that the XLRS1 gene, when mutated, causes RS...
  31. pmc Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q
    R E Kelsell
    Am J Hum Genet 63:274-9. 1998
  32. ncbi EFEMP1 is not associated with sporadic early onset drusen
    C G Sauer
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Ophthalmic Genet 22:27-34. 2001
    ..We conclude that EFEMP1 is unlikely to be involved in the disease in this patient group. This suggests that mutations in a different as yet unknown gene or genes may lead to the early onset drusen phenotype...
  33. ncbi Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
    U Felbor
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Hum Mutat 10:301-9. 1997
    ..In addition, this study shows that the variable phenotypes in AVMD are due, at least in part, to genetic heterogeneity and are likely to be caused by mutations in disease genes thus far unknown...
  34. ncbi Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
    F Kramer
    Institut fur Humangenetik, Universitat Wurzburg, Germany
    Eur J Hum Genet 8:286-92. 2000
    ..There were no mutations found in the AMD group. In addition, four frequent intragenic polymorphisms did not reveal allelic association of the VMD2 locus with AMD. These data exclude a direct role of VMD2 in the predisposition to AMD...
  35. ncbi Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)
    H Stohr
    Genome Res 5:483-7. 1995
    ..To further facilitate mutational analysis and to provide a basis for functional studies, we now report the genomic organization of the human TIMP3 gene...
  36. ncbi A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
    U Felbor
    Insitut für Humangenetik, Unversität Würzburg, Germany
    Hum Mol Genet 4:2415-6. 1995
  37. ncbi Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies
    U Felbor
    Institut fur Humangenetik, Biozentrum, Universitat Wurzburg, Wurzburg Germany
    Cytogenet Cell Genet 81:12-7. 1998
    ....
  38. ncbi Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease
    I Nasonkin
    Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada
    Hum Genet 102:21-6. 1998
    ..This brings the total number of independently identified mutations to 23, providing further evidence that the human ABCR gene is associated with Stargardt's disease...