N T Bech-Hansen
Affiliation: University of Calgary
- Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindnessN 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...
- Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23N 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...
- Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1FK 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...
- A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variantsK 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...
- Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnessN 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...
- Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindnessM 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...
- Congenital stationary night blindness in mice - a tale of two Cacna1f mutantsN 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)...
- Physical map covering a 2 Mb region in human xp11.3 distal to DX6849K 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...
- X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneR 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...
- 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 ELK1J 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...