N T Bech-Hansen

Summary

Affiliation: University of Calgary
Country: Canada

Publications

  1. ncbi Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
    N T Bech-Hansen
    Department of Medical Genetics, University of Calgary, Alberta, Canada
    Nat Genet 19:264-7. 1998
  2. ncbi Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23
    N T Bech-Hansen
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Alberta, Canada
    Hum Genet 103:124-30. 1998
  3. ncbi Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
    K M Boycott
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Alta
    Can J Ophthalmol 35:204-13. 2000
  4. ncbi A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
    K M Boycott
    Department of Medical Genetics, University of Calgary, AB, Canada
    Hum Genet 108:91-7. 2001
  5. ncbi Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
    N T Bech-Hansen
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Nat Genet 26:319-23. 2000
  6. ncbi Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness
    M J Naylor
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, T2N 4N1, Canada
    Genomics 66:324-7. 2000
  7. doi Congenital stationary night blindness in mice - a tale of two Cacna1f mutants
    N Lodha
    Department Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Adv Exp Med Biol 664:549-58. 2010
  8. ncbi Physical map covering a 2 Mb region in human xp11.3 distal to DX6849
    K L Stoddart
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta T2N 4N1, Canada
    Gene 227:111-6. 1999
  9. pmc X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
    R Jalkanen
    J Med Genet 43:699-704. 2006
  10. ncbi Clustered organization of Krüppel zinc-finger genes at Xp11.23, flanking a translocation breakpoint at OATL1: a physical map with locus assignments for ZNF21, ZNF41, ZNF81, and ELK1
    J C Knight
    Department of Histopathology, St Thomas s Hospital, UMDS, London, United Kingdom
    Genomics 21:180-7. 1994

Collaborators

Detail Information

Publications10

  1. ncbi Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
    N T Bech-Hansen
    Department of Medical Genetics, University of Calgary, Alberta, Canada
    Nat Genet 19:264-7. 1998
    ..These findings establish that loss-of-function mutations in CACNA1F cause incomplete CSNB, making this disorder an example of a human channelopathy of the retina...
  2. ncbi Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23
    N T Bech-Hansen
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Alberta, Canada
    Hum Genet 103:124-30. 1998
    ..Detailed analysis of critical recombinant chromosomes in this extended family have refined the minimal region for the CSNB2 locus to the interval between DXS6849 and DXS8023 in Xp11.23...
  3. ncbi Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
    K M Boycott
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Alta
    Can J Ophthalmol 35:204-13. 2000
    ..We assessed the clinical variability in the expression of the incomplete CSNB phenotype in a subgroup of patients of Mennonite ancestry with the same founder mutation...
  4. ncbi A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
    K M Boycott
    Department of Medical Genetics, University of Calgary, AB, Canada
    Hum Genet 108:91-7. 2001
    ..In characterizing transcripts of CACNA1F we have identified several splice variants and defined a prototypical sequence based on the location of mutations in splice variants and comparison with the mouse orthologue, Cacnalf...
  5. ncbi Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
    N T Bech-Hansen
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Nat Genet 26:319-23. 2000
    ..The role of other SLRP proteins suggests that mutant nyctalopin disrupts developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB...
  6. ncbi Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness
    M J Naylor
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, T2N 4N1, Canada
    Genomics 66:324-7. 2000
    ..23. Using in situ hybridization, Cacna1f was found to be expressed in the inner and outer nuclear layers and the ganglion cell layer of the retina...
  7. doi Congenital stationary night blindness in mice - a tale of two Cacna1f mutants
    N Lodha
    Department Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Adv Exp Med Biol 664:549-58. 2010
    ..We have characterized two putative murine CSNB2 models: an engineered null-mutant, with a stop codon (G305X); and a spontaneous mutant with an ETn insertion in intron 2 of Cacna1f (nob2)...
  8. ncbi Physical map covering a 2 Mb region in human xp11.3 distal to DX6849
    K L Stoddart
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta T2N 4N1, Canada
    Gene 227:111-6. 1999
    ..The contig is merged with published physical maps both in the distal and in the centromeric direction of Xp, and provides reagents to aid in the DNA sequencing and the finding of genes in this region of the human genome...
  9. pmc X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
    R Jalkanen
    J Med Genet 43:699-704. 2006
    ..CORDX1 is caused by mutations in the RPGR gene (Xp21.1), CORDX2 is located on Xq27.2-28, and we recently localised CORDX3 to Xp11.4-q13.1. We aimed to identify the causative gene behind the CORDX3 phenotype...
  10. ncbi Clustered organization of Krüppel zinc-finger genes at Xp11.23, flanking a translocation breakpoint at OATL1: a physical map with locus assignments for ZNF21, ZNF41, ZNF81, and ELK1
    J C Knight
    Department of Histopathology, St Thomas s Hospital, UMDS, London, United Kingdom
    Genomics 21:180-7. 1994
    ..ZNF41 maps to a 440-kb YAC spanning this region, while a more proximal cluster comprising the ZNF21 and ZNF81 genes lies 150 kb distal to the chromosome breakpoint associated with synovial sarcoma...