Genomes and Genes
O H Sundin
Affiliation: Johns Hopkins University
- Genetic basis of total colourblindness among the Pingelapese islandersO H Sundin
Laboratory of Developmental Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Nat Genet 25:289-93. 2000..Combined with earlier findings, our results demonstrate that both alpha- and beta-subunits of the cGMP-gated channel are essential for phototransduction in all three classes of cones...
- A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotypeE Silva
Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Invest Ophthalmol Vis Sci 41:2076-9. 2000..To identify and characterize new cone rod homeobox (CRX) mutations associated with the Leber congenital amaurosis phenotype...
- Sequence and location of SIX3, a homeobox gene expressed in the human eyeG S Leppert
Wilmer Ophthalmological Institute, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Ophthalmic Genet 20:7-21. 1999..Alternatively, the expression pattern of mouse Six3 suggests that human SIX3 could be involved in disorders of eye and pituitary development...
- Expression of the optx2 homeobox gene during mouse developmentJ Toy
Department of Ophthalmology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Mech Dev 83:183-6. 1999..In the adult mouse retina, Optx2 mRNA is found in cells within the ganglion cell layer and inner nuclear layer...
- The optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genesJ Toy
Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 9289, USA
Proc Natl Acad Sci U S A 95:10643-8. 1998..We also have isolated optix, a Drosophila gene that is the closest insect homologue of Optx2 and Six3. Optix is expressed during early development of the fly head and eye primordia...
- Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidityC F Parsa
Wilmer Ophthalmological Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287-9237, USA
Ophthalmology 108:738-49. 2001..The absence of defects in the PAX2 gene in these families suggests that mutations in other genes may also be responsible for this syndrome...