N Torben Bech-Hansen

Summary

Affiliation: University of Calgary
Country: Canada

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick
    N Torben Bech-Hansen
    Department of Medical Genetics, Population Genomics Research Group, Faculty of Medicine, University of Calgary, 3330 Hospital Drive, N W, Calgary, Alberta, T2N 4N1, Canada
    Mamm Genome 16:815-24. 2005
  3. ncbi request reprint 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 request reprint 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
  5. ncbi request reprint 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
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  8. ncbi request reprint Extended evaluation of serotonin transporter gene functional polymorphisms in subjects with post-stroke depression
    Rajamannar Ramasubbu
    Department of Psychiatry and Clinical Neurosciences, University of Calgary, Hotchkiss Brain Institute, Alberta
    Can J Psychiatry 53:197-201. 2008
  9. ncbi request reprint Serotonin transporter gene promoter region polymorphism associated with poststroke major depression
    Rajamannar Ramasubbu
    Department of Psychiatry and Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada, T2N 2T9
    J Neuropsychiatry Clin Neurosci 18:96-9. 2006
  10. ncbi request reprint Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina
    Fiona Mansergh
    Department of Oncology, University of Calgary, Canada
    Hum Mol Genet 14:3035-46. 2005

Collaborators

Detail Information

Publications15

  1. ncbi request reprint 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...
  2. ncbi request reprint Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick
    N Torben Bech-Hansen
    Department of Medical Genetics, Population Genomics Research Group, Faculty of Medicine, University of Calgary, 3330 Hospital Drive, N W, Calgary, Alberta, T2N 4N1, Canada
    Mamm Genome 16:815-24. 2005
    ..Expression (albeit weaker) was also detected in the cerebrum and cerebellum and in non-neuronal tissues. Finally, we also report the identification of three novel splice variants, one of which predominates in the retina...
  3. ncbi request reprint 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 request reprint 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...
  5. ncbi request reprint 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...
  6. ncbi request reprint 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...
  7. ncbi request reprint 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...
  8. ncbi request reprint Extended evaluation of serotonin transporter gene functional polymorphisms in subjects with post-stroke depression
    Rajamannar Ramasubbu
    Department of Psychiatry and Clinical Neurosciences, University of Calgary, Hotchkiss Brain Institute, Alberta
    Can J Psychiatry 53:197-201. 2008
    ....
  9. ncbi request reprint Serotonin transporter gene promoter region polymorphism associated with poststroke major depression
    Rajamannar Ramasubbu
    Department of Psychiatry and Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada, T2N 2T9
    J Neuropsychiatry Clin Neurosci 18:96-9. 2006
    ..Findings indicate a significant association between 5-HTTLPR short variant genotype and poststroke major depression...
  10. ncbi request reprint Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina
    Fiona Mansergh
    Department of Oncology, University of Calgary, Canada
    Hum Mol Genet 14:3035-46. 2005
    ..Moreover, the outcome of this study provides critical clues to the pathophysiology of the human retinal channelopathy of X-linked incomplete CSNB...
  11. ncbi request reprint A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD
    Kym M Boycott
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet A 122:139-47. 2003
    ..3 region is not always associated with the classic presentations of Léri-Weill syndrome, or chondrodysplasia punctata, and that one or more genes involved in learning and attention may reside in Xp22.3...
  12. ncbi request reprint 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...
  13. ncbi request reprint A novel CACNA1F gene mutation causes Aland Island eye disease
    Reetta Jalkanen
    Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Biomedicum Helsinki, Helsinki, Finland
    Invest Ophthalmol Vis Sci 48:2498-502. 2007
    ..The purpose of this study was to identify the mutated gene underlying the disease phenotype in the original AIED-affected family...
  14. ncbi request reprint Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology
    Mary A Raven
    Neuroscience Research Institute, University of California, Santa Barbara 93106 5060, USA
    J Comp Neurol 506:745-58. 2008
    ..Together, they suggest a complex cascade of interactions between developing cone pedicles and horizontal cell dendrites involving early spontaneous activity, dendritic attraction, ribbon assembly, and pedicle invagination...
  15. pmc Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 17:2405-15. 2008
    ..The results point to the photoreceptor cell as the therapeutic target for USH treatment trials, such as MYO7A somatic gene replacement therapy...