B Bakall

Summary

Affiliation: University Hospital
Country: Sweden

Publications

  1. ncbi The mutation spectrum of the bestrophin protein--functional implications
    B Bakall
    Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
    Hum Genet 104:383-9. 1999
  2. ncbi Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene
    V Ponjavic
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Ophthalmic Genet 20:251-7. 1999
  3. ncbi Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene
    L Eksandh
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Ophthalmic Genet 22:107-15. 2001
  4. ncbi Identification of the gene responsible for Best macular dystrophy
    K Petrukhin
    Department of Human Genetics, Merck Research Laboratories, West Point, Pennsylvania 19486, USA
    Nat Genet 19:241-7. 1998
  5. ncbi Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)
    B Bakall
    Department of Ophthalmology and Vision Science, University of Arizona, Tucson, AZ 85724, USA
    Exp Eye Res 85:34-43. 2007

Detail Information

Publications5

  1. ncbi The mutation spectrum of the bestrophin protein--functional implications
    B Bakall
    Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
    Hum Genet 104:383-9. 1999
    ..Computer simulations of the structural elements in the bestrophin protein show that this protein is probably membrane bound, with four putative transmembrane regions...
  2. ncbi Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene
    V Ponjavic
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Ophthalmic Genet 20:251-7. 1999
    ..To examine the clinical phenotype of three Swedish families with Best's vitelliform macular dystrophy (BMD) and three different mutations in the recently identified bestrophin gene...
  3. ncbi Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene
    L Eksandh
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Ophthalmic Genet 22:107-15. 2001
    ..To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene...
  4. ncbi Identification of the gene responsible for Best macular dystrophy
    K Petrukhin
    Department of Human Genetics, Merck Research Laboratories, West Point, Pennsylvania 19486, USA
    Nat Genet 19:241-7. 1998
    ..The 3' UTR of the candidate gene contains a region of antisense complementarity to the 3' UTR of the ferritin heavy-chain gene (FTH1), indicating the possibility of antisense interaction between VMD2 and FTH1 transcripts...
  5. ncbi Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)
    B Bakall
    Department of Ophthalmology and Vision Science, University of Arizona, Tucson, AZ 85724, USA
    Exp Eye Res 85:34-43. 2007
    ..Finally, the changes we observe in the granules suggest that the histopathology and eventual vision loss associated with BMD may be due to defects in the ability of the RPE to fully degrade phagocytosed photoreceptor outer segments...