Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
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D. Mackey | R. Newbury-Ecob | A. Markham | J. Craig | C. Inglehearn | C. Toomes | C. Bennett | G. Black | A F Markham | A. Churchill | C F Inglehearn | J E Craig | D A Mackey | C Toomes | N J Marchbank | R A Newbury-Ecob | C P Bennett | C J Vize | S P Desai | G C Black | N Patel | M Teimory | A J Churchill | S. Desai | C. Vize | M. Teimory | C. Bennett | N. Marchbank | N. Patel | Alex F. Markham | G. C. Black | David A. Mackey | Jamie E. Craig | A. J. Churchill | Christopher P. Bennett | Colin J. Vize | Shrivatsa P. Desai | Graeme C. M. Black | Nishal Patel | M. Teimory | N. Patel
[1] B. Ducommun,et al. Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance. , 1998, Biochemical and biophysical research communications.
[2] B. Ducommun,et al. Fission yeast Msp1 is a mitochondrial dynamin-related protein. , 1999, Journal of cell science.
[3] A. Jonasdottir,et al. Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig , 1996, Human Genetics.
[4] L. French,et al. A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype , 2001, Cytogenetic and Genome Research.
[5] D. Harvey,et al. Genetic risks. , 1978, British journal of hospital medicine.
[6] J. Kivlin,et al. Linkage analysis in dominant optic atrophy. , 1983, American journal of human genetics.
[7] J. Mulvihill. Craniofacial syndromes: no such thing as a single gene disease , 1995, Nature Genetics.
[8] V. Sheffield,et al. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) , 1997, Archives of ophthalmology.
[9] F. Fitzke,et al. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. , 1998, Archives of ophthalmology.
[10] L. Maquat. Defects in RNA splicing and the consequence of shortened translational reading frames. , 1996, American journal of human genetics.
[11] M. Seller,et al. Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree. , 1997, Archives of ophthalmology.
[12] D. Wallace,et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. , 1988, Science.
[13] M. Dixon,et al. Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23. , 1998, Genomics.
[14] Alan Bird,et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy , 1993, Nature Genetics.
[15] L. Strong,et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region , 1991, Cell.
[16] E. Stone,et al. Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss. , 1991, Journal of clinical neuro-ophthalmology.
[17] E. Fisher,et al. Human haploinsufficiency — one for sorrow, two for joy , 1994, Nature Genetics.
[18] J. Weissenbach,et al. Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer. , 1995, American journal of human genetics.
[19] W. L. Fangman,et al. Mitochondrial DNA maintenance in yeast requires a protein containing a region related to the GTP-binding domain of dynamin. , 1992, Genes & development.
[20] J. Grosgeorge,et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy , 2000, Nature Genetics.
[21] V. Sheffield,et al. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. , 1993, Genomics.
[22] C. Baldwin,et al. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome , 1992, Nature.
[23] S. Bhattacharya,et al. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method , 1998, Human Genetics.
[24] T. L. McGee,et al. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. , 1997, American journal of human genetics.
[25] M. Aebi,et al. 5′ cleavage site in eukaryotic pre-mRNA splicing is determined by the overall 5′ splice region, not by the conserved 5′ GU , 1987, Cell.
[26] S. Bhattacharya,et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 , 2000, Nature Genetics.
[27] A. Child,et al. Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28. , 1997, Ophthalmic genetics.
[28] T. Rosenberg,et al. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. , 1994, Human molecular genetics.
[29] N. Howell. Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve , 1998, Vision Research.
[30] C. Freund,et al. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. , 1998, American journal of human genetics.
[31] N. Nomura,et al. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. , 1997, DNA research : an international journal for rapid publication of reports on genes and genomes.
[32] R. Balling,et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene , 1992, Nature.
[33] N. Nomura,et al. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. , 1998, DNA research : an international journal for rapid publication of reports on genes and genomes.
[34] V. Smith,et al. A clinicopathologic study of autosomal dominant optic atrophy. , 1979, American journal of ophthalmology.
[35] M. Vagefi,et al. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. , 1999, Archives of ophthalmology.
[36] T. Rosenberg,et al. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. , 2009, Acta ophthalmologica Scandinavica.
[37] S. O’Brien,et al. Detecting single base substitutions as heteroduplex polymorphisms. , 1992, Genomics.
[38] J. Weissenbach,et al. No evidence of genetic heterogeneity in dominant optic atrophy. , 1995, Journal of medical genetics.
[39] H. Gallinaro,et al. The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA. , 1989, Nucleic acids research.
[40] D. Mackey,et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. , 1996, American journal of human genetics.