Genomes and Genes
N Torben Bech-Hansen
Affiliation: University of Calgary
- 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 the leucine-rich proteoglycan nyctalopin gene (cNyx) from chickN 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...
- 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...
- 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...
- 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...
- 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...
- Extended evaluation of serotonin transporter gene functional polymorphisms in subjects with post-stroke depressionRajamannar Ramasubbu
Department of Psychiatry and Clinical Neurosciences, University of Calgary, Hotchkiss Brain Institute, Alberta
Can J Psychiatry 53:197-201. 2008....
- Serotonin transporter gene promoter region polymorphism associated with poststroke major depressionRajamannar 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...
- Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retinaFiona 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...
- A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHDKym 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...
- 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...
- A novel CACNA1F gene mutation causes Aland Island eye diseaseReetta 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...
- Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphologyMary 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...
- Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanismSamuel 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...