Search Results - "Ploder, L"

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 by Sarfarazi, Mansoor, McInnes, Roderick R, Ferda Percin, E, Ploder, Lynda A, Yu, Jessica J, Arici, Kemal, Jonathan Horsford, D, Rutherford, Adam, Bapat, Bharati, Cox, Diane W, Duncan, Alessandra M.V, Kalnins, Vitauts I, Kocak-Altintas, Aysegul, Sowden, Jane C, Traboulsi, Elias

“…Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized…”
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Intragenic complementation at the argininosuccinate lyase locus: Reconstruction of the active site by Howell, P. L., Turner, M. A., Christodoulou, J., Walker, D. C., Craig, H. J., Simard, L. R., Ploder, L., McInnes, R. R.

“…Intragenic complementation has been observed at the argininosuccinate lyase (ASL) locus and the ASL alleles in the ASL‐deficient cell strains of two…”
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Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX) Essential for Maintenance of the Photoreceptor by Freund, Carol L, Gregory-Evans, Cheryl Y, Furukawa, Takahisa, Papaioannou, Myrto, Looser, Jens, Ploder, Lynda, Bellingham, James, Ng, David, Herbrick, Jo-Anne S, Duncan, Alessandra, Scherer, Stephen W, Tsui, Lap-Chee, Loutradis-Anagnostou, Aphrodite, Jacobson, Samuel G, Cepko, Constance L, Bhattacharya, Shomi S, McInnes, Roderick R

“…Genes associated with inherited retinal degeneration have been found to encode proteins required for phototransduction, metabolism, or structural support of…”
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Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis by Molday, Laurie L, McInnes, Roderick R, Szél, Ágoston, Molday, Robert S, Clarke, Geoff, Goldberg, Andrew F.X, Schwarz, Lois, Collins, Leslie, Rossant, Janet, Ploder, Lynda, Vidgen, Danka, Birch, David G

“…The homologous membrane proteins Rom-1 and peripherin-2 are localized to the disk rims of photoreceptor outer segments (OSs), where they associate as tetramers…”
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Pax-6, Prox 1, and Chx10 homeobox gene expression correlates with phenotypic fate of retinal precursor cells by BELECKY-ADAMS, T, TOMAREV, S, LI, H.-S, PLODER, L, MCINNES, R. R, SUNDIN, O, ADLER, R

“…To study the expression patterns of the homeobox genes Pax-6, Prox 1, and Chx10 during chick retinal development in vivo and in vitro. Sections of…”
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Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation by Burmeister, Margit, Novak, Jakub, Liang, Mei-Ying, Basu, Sharmila, Ploder, Lynda, Hawes, Norman L, Vidgen, Danka, Hoover, Frank, Goldman, Daniel, Kalnins, Vitauts I, Roderick, Thomas H, Taylor, Benjamin A, Hankin, Mark H, Mclnnes, Roderick R

“…Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying…”
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Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer by Liu, I S, Chen, J D, Ploder, L, Vidgen, D, van der Kooy, D, Kalnins, V I, McInnes, R R

“…Few potential regulatory proteins of vertebrate retinal development have been identified. We describe a 39 kDa murine polypeptide (Chx10) with a homeodomain…”
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PHR1 Encodes an Abundant, Pleckstrin Homology Domain-containing Integral Membrane Protein in the Photoreceptor Outer Segments by Xu, S, Ladak, R, Swanson, D A, Soltyk, A, Sun, H, Ploder, L, Vidgen, D, Duncan, A M, Garami, E, Valle, D, McInnes, R R

“…We cloned human and murine cDNAs of a gene (designated PHR1 ), expressed preferentially in retina and brain. In both species, PHR1 utilizes two promoters and…”
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Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles by Walker, D C, Christodoulou, J, Craig, H J, Simard, L R, Ploder, L, Howell, P L, McInnes, R R

“…To determine the molecular and biochemical basis of intragenic complementation observed at the human argininosuccinate lyase (ASL) locus, we identified the ASL…”
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A Ubiquitin C-Terminal Hydrolase Gene on the Proximal Short Arm of the X Chromosome: Implications for X-Linked Retinal Disorders by Swanson, Deborah A., Freund, Carol L., Ploder, Lynda, McInnes, Roderick R., Valle, David

“…We report the cloning of a novel human cDNA which encodes a 690 amino acid protein with high homology to ubiquitin C-terminal hydrolases. Northern blot…”
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Vsx1, a rapidly evolving paired-like homeobox gene expressed in cone bipolar cells by Chow, R L, Snow, B, Novak, J, Looser, J, Freund, C, Vidgen, D, Ploder, L, McInnes, R R

“…The paired-like homeodomain (HD) protein Chx10 is distinguished by the presence of the CVC domain, a conserved 56 amino acid sequence C-terminal to the HD. In…”
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A differential hybridization scheme to identify photoreceptor-specific genes by Swanson, D A, Freund, C L, Steel, J M, Xu, S, Ploder, L, McInnes, R R, Valle, D

“…Identification of genes expressed preferentially or exclusively in photoreceptors will facilitate the understanding of photoreceptor biology as well as provide…”
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