Experts and Doctors on eye proteins in Ann Arbor, Michigan, United States


Locale: Ann Arbor, Michigan, United States
Topic: eye proteins

Top Publications

  1. Gerth Kahlert C, Tiwari A, Hanson J, Batmanabane V, Traboulsi E, Pennesi M, et al. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Invest Ophthalmol Vis Sci. 2017;58:3840-3850 pubmed publisher
    ..The phenotype analysis over a wide age range showed a variable and progressive retinal degeneration with early onset maculopathy and a better visual potential before the age of 30 years. ..
  2. Vasireddy V, Vijayasarathy C, Huang J, Wang X, Jablonski M, Petty H, et al. Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. Mol Vis. 2005;11:665-76 pubmed
  3. Song W, Sternberg L, Kasten Sportes C, Keuren M, Chung S, Slack A, et al. Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome "critical region". Genomics. 1996;38:331-9 pubmed
  4. Farjo Q, Jackson A, Pieke Dahl S, Scott K, Kimberling W, Sieving P, et al. Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration. Genomics. 1997;45:395-401 pubmed
  5. Li Q, Puro D. Adenosine activates ATP-sensitive K(+) currents in pericytes of rat retinal microvessels: role of A1 and A2a receptors. Brain Res. 2001;907:93-9 pubmed
    ..These results suggest that the regulation of K(ATP) channels via A1 and A2a receptors allows adenosine to serve over a broad range of metabolic conditions as a vasoactive signal in the retinal microvasculature. ..
  6. Murga Zamalloa C, Swaroop A, Khanna H. Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Adv Exp Med Biol. 2010;664:105-14 pubmed publisher
    ..Piecing together the RPGR-interactome in different subcellular compartments should provide critical insights into the role of alternative RPGR isoforms in associated orphan and syndromic retinal degenerative diseases. ..
  7. Shin K, Straight S, Margolis B. PATJ regulates tight junction formation and polarity in mammalian epithelial cells. J Cell Biol. 2005;168:705-11 pubmed
    ..This study provides new functional information on PATJ as a polarity protein and increases our understanding of the Crumbs-PALS1-PATJ complex function in epithelial polarity. ..
  8. Thompson D, McHenry C, Li Y, Richards J, Othman M, Schwinger E, et al. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet. 2002;70:224-9 pubmed
  9. Zacks D, Han Y, Zeng Y, Swaroop A. Activation of signaling pathways and stress-response genes in an experimental model of retinal detachment. Invest Ophthalmol Vis Sci. 2006;47:1691-5 pubmed
    ..This adaptive response may enable the photoreceptor cells to survive the acute phase of a retinal detachment, and it is the breakdown of these protective mechanisms in chronic disease that leads to the ultimate death of the cell. ..

More Information


  1. Mastick G, Davis N, Andrew G, Easter S. Pax-6 functions in boundary formation and axon guidance in the embryonic mouse forebrain. Development. 1997;124:1985-97 pubmed
    ..We conclude that Pax-6 plays multiple roles in forebrain patterning, including boundary formation, regional patterning, neuron specification and axon guidance. ..
  2. He S, Parapuram S, Hurd T, Behnam B, Margolis B, Swaroop A, et al. Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vision Res. 2008;48:366-76 pubmed
    ..Our findings indicate that multiple isotypes of RPGR may perform overlapping yet somewhat distinct transport-related functions in photoreceptors. ..
  3. Wu D, Khanna H, Atmaca Sonmez P, Sieving P, Branham K, Othman M, et al. Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye (Lond). 2010;24:764-74 pubmed publisher
    ..Broader recognition of X-linked RP forms with dominant inheritance is necessary to facilitate appropriate counselling of these patients. ..
  4. Hiriyanna K, Bingham E, Yashar B, Ayyagari R, Fishman G, Small K, et al. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. Hum Mutat. 1999;14:423-7 pubmed
    ..Mutations in 25 of the families were localized to exons 4-6, emphasizing the critical functional significance of the discoidin domain of the XLRS1 protein. ..
  5. Brown N, Kanekar S, Vetter M, Tucker P, Gemza D, Glaser T. Math5 encodes a murine basic helix-loop-helix transcription factor expressed during early stages of retinal neurogenesis. Development. 1998;125:4821-33 pubmed
    ..We propose that Math5 acts as a proneural gene, but has properties different from its most closely related vertebrate family member, Xath5. ..
  6. Mercer A, Thoreson W. Tracking quantum dot-tagged calcium channels at vertebrate photoreceptor synapses: retinal slices and dissociated cells. Curr Protoc Neurosci. 2013;Chapter 2:Unit 2.18 pubmed publisher
    ..These approaches can also be readily adapted to examine membrane proteins in other systems. ..
  7. Hurd T, Zhou W, Jenkins P, Liu C, Swaroop A, Khanna H, et al. The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Hum Mol Genet. 2010;19:4330-44 pubmed publisher
    ..This work suggests that RP2 may be an important regulator of ciliary function through its association with polycystin 2 and provides evidence of a further link between retinal and renal cilia function. ..
  8. Branham K, Othman M, Brumm M, Karoukis A, Atmaca Sonmez P, Yashar B, et al. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci. 2012;53:8232-7 pubmed publisher
    ..Based on our findings, we suggest that RPGR should be considered as a first tier gene for screening isolated males with retinal degeneration. ..
  9. Akimoto M, Cheng H, Zhu D, Brzezinski J, Khanna R, Filippova E, et al. Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proc Natl Acad Sci U S A. 2006;103:3890-5 pubmed
    ..Our results provide a framework for establishing gene regulatory networks that lead to mature functional photoreceptors from postmitotic precursors. Differentially expressed rod and cone genes are excellent candidates for retinopathies. ..
  10. Mackay D, Borman A, Sui R, van den Born L, Berson E, Ocaka L, et al. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013;34:1537-1546 pubmed publisher
    ..Some patients have remaining foveal cone structures (intact IS/OS junctions on OCT imaging) and remaining visual acuities, which may bode well for upcoming treatment trials. ..
  11. Nicoletti A, Kawase K, Thompson D. Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein. Invest Ophthalmol Vis Sci. 1998;39:637-44 pubmed
    ..Identification of promoter elements and genetic markers in the upstream sequence will enable the screening of patients with retinal degeneration for possible mutations that affect RPE65 expression. ..
  12. Mitton K, Swain P, Chen S, Xu S, Zack D, Swaroop A. The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. J Biol Chem. 2000;275:29794-9 pubmed
  13. Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk L, et al. Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genet. 2001;22:233-9 pubmed
    ..However, for the detection of modest effects of multiple alleles in a complex disease, the analysis of larger cohorts of patients may be required. ..
  14. Polaczyk P, Gasperini R, Gibson G. Naturally occurring genetic variation affects Drosophila photoreceptor determination. Dev Genes Evol. 1998;207:462-70 pubmed
    ..This implies that different genes and/or alleles modify the two activated receptor genotypes. The evolutionary significance of the existence of high levels of genetic variation in the absence of normal phenotypic variation is discussed. ..
  15. Hurd T, Gao L, Roh M, Macara I, Margolis B. Direct interaction of two polarity complexes implicated in epithelial tight junction assembly. Nat Cell Biol. 2003;5:137-42 pubmed
    ..Our data highlight a previously unrecognized link between protein complexes that are essential for epithelial polarity and formation of tight junctions. ..
  16. Mitton K, Swain P, Khanna H, Dowd M, Apel I, Swaroop A. Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor. Hum Mol Genet. 2003;12:365-73 pubmed
    ..Our results indicate potential cross-talk among signaling pathways in the retina and suggest that the function of NRL is modulated by its interaction with specific repressor proteins. ..
  17. Ghosh A, Murga Zamalloa C, Chan L, Hitchcock P, Swaroop A, Khanna H. Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development. Hum Mol Genet. 2010;19:90-8 pubmed publisher
    ..We propose that RPGR is involved in cilia-dependent cascades during development in zebrafish. Our studies provide evidence for a heterogenic effect of the disease-causing mutations on the function of RPGR. ..
  18. Acar C, Mears A, Yashar B, Maheshwary A, Andreasson S, Baldi A, et al. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. Mol Vis. 2003;9:14-7 pubmed
    ..It is possible that the loss of NRL function in humans is associated with a more complex clinical phenotype due to its expression in pineal gland in addition to rod photoreceptors. ..
  19. Lenkowski J, Qin Z, Sifuentes C, Thummel R, Soto C, Moens C, et al. Retinal regeneration in adult zebrafish requires regulation of TGF? signaling. Glia. 2013;61:1687-97 pubmed publisher
    ..Tgif1 expression and regulation of TGF? signaling are implicated in the function of several types of stem cells, but this is the first demonstration that this regulatory network is necessary for regeneration of neurons. ..
  20. Zahid S, Khan N, Branham K, Othman M, Karoukis A, Sharma N, et al. Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations. JAMA Ophthalmol. 2013;131:1016-25 pubmed publisher
    ..Phenotypic concordance is important for establishing proper counseling of patients diagnosed as having X-linked retinitis pigmentosa, as well as for establishing accurate patient selection and efficacy monitoring in therapeutic trials. ..
  21. Kanda A, Friedman J, Nishiguchi K, Swaroop A. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. Hum Mutat. 2007;28:589-98 pubmed
    ..We propose that differential phosphorylation of NRL fine-tunes its transcriptional regulatory activity, leading to a more precise control of gene expression. ..
  22. Murga Zamalloa C, Swaroop A, Khanna H. RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. J Genet. 2009;88:399-407 pubmed
  23. Swain P, Hicks D, Mears A, Apel I, Smith J, John S, et al. Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors. J Biol Chem. 2001;276:36824-30 pubmed
    ..We propose that NRL regulates rod photoreceptor-specific gene expression and is involved in rod differentiation. ..
  24. Thompson D, Khan N, Othman M, Chang B, Jia L, Grahek G, et al. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. PLoS ONE. 2012;7:e35865 pubmed publisher
  25. Roh M, Liu C, Laurinec S, Margolis B. The carboxyl terminus of zona occludens-3 binds and recruits a mammalian homologue of discs lost to tight junctions. J Biol Chem. 2002;277:27501-9 pubmed
    ..Finally, reciprocal co-immunoprecipitation experiments revealed that full-length ZO-3 can associate with PATJ. Hence, the PATJ/ZO-3 interaction is likely important for recruiting PATJ and its associated proteins to tight junctions. ..
  26. Mandal M, Vasireddy V, Jablonski M, Wang X, Heckenlively J, Hughes B, et al. Spatial and temporal expression of MFRP and its interaction with CTRP5. Invest Ophthalmol Vis Sci. 2006;47:5514-21 pubmed
    ..MFRP is localized to the plasma membrane of CE and RPE, and colocalizes and interacts with CTRP5 indicating a functional relationship between these two proteins. ..
  27. Senut M, Gulati Leekha A, Goldman D. An element in the alpha1-tubulin promoter is necessary for retinal expression during optic nerve regeneration but not after eye injury in the adult zebrafish. J Neurosci. 2004;24:7663-73 pubmed
    ..696 kb and mutant promoters targeted GFP expression to Müller glia-like cells, some of which re-entered the cell cycle. These new findings will be useful for identifying the molecular signals necessary for successful CNS regeneration. ..
  28. Hurd T, Fan S, Margolis B. Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2. J Cell Sci. 2011;124:718-26 pubmed publisher
    ..Together, this work further highlights a role of Importin ?2 in regulation of the entry of RP2 and other proteins into the ciliary compartment. ..
  29. Swanson C, Evans N, Barolo S. Structural rules and complex regulatory circuitry constrain expression of a Notch- and EGFR-regulated eye enhancer. Dev Cell. 2010;18:359-70 pubmed publisher
  30. Yu J, Othman M, Farjo R, Zareparsi S, MacNee S, Yoshida S, et al. Evaluation and optimization of procedures for target labeling and hybridization of cDNA microarrays. Mol Vis. 2002;8:130-7 pubmed
    ..These procedures have been used for expression profiling with 3 microgram of starting RNA. Our studies should encourage further use of microarray technology for gene profiling during eye development and in retinal diseases. ..
  31. Chang J, Lin H, Blauwkamp T, Cadigan K. Spenito and Split ends act redundantly to promote Wingless signaling. Dev Biol. 2008;314:100-11 pubmed publisher
    ..We propose that Spen and Nito act redundantly downstream of TCF/Armadillo to activate many Wg transcriptional targets. ..
  32. Buraczynska M, Wu W, Fujita R, Buraczynska K, Phelps E, Andreasson S, et al. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet. 1997;61:1287-92 pubmed
    ..The reported studies will be beneficial in establishing genotype-phenotype correlations and should lead to further investigations seeking to understand the mechanism of disease pathogenesis. ..
  33. Kulzer J, Stitzel M, Morken M, Huyghe J, Fuchsberger C, Kuusisto J, et al. A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell. Am J Hum Genet. 2014;94:186-97 pubmed publisher
    ..This work suggests that increased ARAP1 expression might contribute to T2D susceptibility at this GWAS locus. ..
  34. Farjo Q, Jackson A, Xu J, Gryzenia M, Skolnick C, Agarwal N, et al. Molecular characterization of the murine neural retina leucine zipper gene, Nrl. Genomics. 1993;18:216-22 pubmed
  35. Vasireddy V, Jablonski M, Mandal M, Raz Prag D, Wang X, Nizol L, et al. Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2006;47:4558-68 pubmed
    ..E_mut+/- animals display characteristic features associated with Stargardt-like macular degeneration and serve as a model for the study of the mechanism underlying STGD3. ..
  36. Feathers K, Lyubarsky A, Khan N, Teofilo K, Swaroop A, Williams D, et al. Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments. Invest Ophthalmol Vis Sci. 2008;49:1126-35 pubmed publisher
  37. Bespalova I, Farjo Q, Mortlock D, Jackson A, Meisler M, Swaroop A, et al. Mapping of the neural retina leucine zipper gene, Nrl, to mouse chromosome 14. Mamm Genome. 1993;4:618-20 pubmed
  38. Vasireddy V, Uchida Y, Salem N, Kim S, Mandal M, Reddy G, et al. Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death. Hum Mol Genet. 2007;16:471-82 pubmed
    ..These findings demonstrate that ELOVL4 is required for generating VLFA critical for epidermal barrier function, and that the lack of epidermal omega-O-acylceramides is incompatible with survival in a desiccating environment. ..
  39. Khanna H, Hurd T, Lillo C, Shu X, Parapuram S, He S, et al. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem. 2005;280:33580-7 pubmed
    ..Taken together, these results provide novel evidence for the possible involvement of RPGR-ORF15 in microtubule organization and regulation of transport in primary cilia. ..
  40. Mandal M, Heckenlively J, Burch T, Chen L, Vasireddy V, Koenekoop R, et al. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci. 2005;46:3355-62 pubmed
    ..In addition, these arrays offer a unique opportunity to interrogate complex patterns of inheritance due to the involvement of more than one gene by screening multiple genes on a single platform. ..
  41. Cho E, Dressler G. TCF-4 binds beta-catenin and is expressed in distinct regions of the embryonic brain and limbs. Mech Dev. 1998;77:9-18 pubmed
    ..5 and is limited to mesenchymal cells surrounding the areas of chondrification. These data indicate a function for Tcf-4 in neural and limb development, two tissues where Wnt signaling plays an essential role. ..
  42. Chuang J, Mathers P, Raymond P. Expression of three Rx homeobox genes in embryonic and adult zebrafish. Mech Dev. 1999;84:195-8 pubmed
    ..This is the first transcription factor described that distinguishes between cone and rod photoreceptors. ..
  43. Mears A, Kondo M, Swain P, Takada Y, Bush R, Saunders T, et al. Nrl is required for rod photoreceptor development. Nat Genet. 2001;29:447-52 pubmed
    ..On the basis of these findings, we postulate that Nrl acts as a 'molecular switch' during rod-cell development by directly modulating rod-specific genes while simultaneously inhibiting the S-cone pathway through the activation of Nr2e3. ..
  44. Roh M, Makarova O, Liu C, Shin K, Lee S, Laurinec S, et al. The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. J Cell Biol. 2002;157:161-72 pubmed
    ..Thus, our data identifies a new multiprotein complex that appears to be evolutionarily conserved and likely plays an important role in protein targeting and cell polarity. ..
  45. Cheng H, Khanna H, Oh E, Hicks D, Mitton K, Swaroop A. Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Hum Mol Genet. 2004;13:1563-75 pubmed
    ..Our results demonstrate that NR2E3 is involved in regulating the expression of rod photoreceptor-specific genes and support its proposed role in transcriptional regulatory network(s) during rod differentiation. ..
  46. Nicoletti A, Wong D, Kawase K, Gibson L, Yang Feng T, Richards J, et al. Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium. Hum Mol Genet. 1995;4:641-9 pubmed
  47. Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, et al. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet. 1997;61:571-80 pubmed
    ..1. ..
  48. Guevara Fujita M, Fahrner S, Buraczynska K, Cook J, Wheaton D, Cortes F, et al. Five novel RPGR mutations in families with X-linked retinitis pigmentosa. Hum Mutat. 2001;17:151 pubmed
    ..One of these mutations was detected in a family from Chile. Hum Mutat 17:151, 2001. ..
  49. Tucker P, Laemle L, Munson A, Kanekar S, Oliver E, Brown N, et al. The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene. Genesis. 2001;31:43-53 pubmed
    ..In contrast to a targeted Rx null allele, which causes anophthalmia, central nervous system defects, and neonatal death, the hypomorphic M10L allele is fully viable. ..
  50. Oh E, Khan N, Novelli E, Khanna H, Strettoi E, Swaroop A. Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proc Natl Acad Sci U S A. 2007;104:1679-84 pubmed
    ..Our studies establish that NRL is not only essential but is sufficient for rod differentiation and that postmitotic photoreceptor precursors are competent to make binary decisions during early retinogenesis. ..
  51. Lin J, Patel S, Cheng X, Cho E, Levitan I, Ullenbruch M, et al. Kielin/chordin-like protein, a novel enhancer of BMP signaling, attenuates renal fibrotic disease. Nat Med. 2005;11:387-93 pubmed
    ..The data indicate an important role for KCP in attenuating the pathology of renal fibrotic disease. ..
  52. Otto E, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 2005;37:282-8 pubmed
    ..Our studies emphasize the central role of ciliary dysfunction in the pathogenesis of SLSN. ..
  53. Friedman J, Khanna H, Swain P, Denicola R, Cheng H, Mitton K, et al. The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein. J Biol Chem. 2004;279:47233-41 pubmed
  54. Mandal M, Ambasudhan R, Wong P, Gage P, Sieving P, Ayyagari R. Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression. Genomics. 2004;83:626-35 pubmed
    ..These observations suggest that ELOVL4 may play an important role in embryonic development and in maintaining normal physiology of retina and brain at later stages of development. ..
  55. Weng M, Haenfler J, Lee C. Changes in Notch signaling coordinates maintenance and differentiation of the Drosophila larval optic lobe neuroepithelia. Dev Neurobiol. 2012;72:1376-90 pubmed publisher
    ..Thus, changes in Notch signaling orchestrate a dynamic balance between maintenance and conversion of neuroepithelial cells during optic lobe neurogenesis. ..
  56. Duncan J, Biswas P, Kozak I, Navani M, Syed R, Soudry S, et al. Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration. Ophthalmic Genet. 2016;37:44-52 pubmed publisher
    ..Exome sequencing may identify causative genetic variants in autosomal recessive RD families when other genetic test strategies fail to identify a mutation. ..
  57. Yang D, Swaminathan A, Zhang X, Hughes B. Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium. Exp Eye Res. 2008;86:81-91 pubmed
    ..1 in human RPE, identifies a Kir7.1 splice variant resulting in predicted changes in protein sequence, and indicates that there is no functional interaction between this splice variant and full-length Kir7.1. ..
  58. Vasireddy V, Sharon M, Salem N, Ayyagari R. Role of ELOVL4 in fatty acid metabolism. Adv Exp Med Biol. 2008;613:283-90 pubmed publisher
  59. Murga Zamalloa C, Desai N, Hildebrandt F, Khanna H. Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis. 2010;16:1373-81 pubmed
    ..RPGR may regulate some complexes with NPHP proteins in the mammalian retina. The disruption of these complexes may contribute to the pathogenesis of retinal degeneration in X-linked RP and associated ciliary diseases. ..
  60. Yu J, He S, Friedman J, Akimoto M, Ghosh D, Mears A, et al. Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays. J Biol Chem. 2004;279:42211-20 pubmed
    ..We hypothesize that Bmp/Smad and Wnt/Ca(2+) pathways participate in cell-cell communication in the mature retina, and expression changes observed in the Nrl(-/-) retina reflect their biased utilization in rod versus cone homeostasis. ..
  61. Breuer D, Yashar B, Filippova E, Hiriyanna S, Lyons R, Mears A, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002;70:1545-54 pubmed
    ..We also discuss the implications of our studies for genetic diagnosis, genotype-phenotype correlations, and gene-based therapy. ..
  62. Ambasudhan R, Wang X, Jablonski M, Thompson D, Lagali P, Wong P, et al. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein. Genomics. 2004;83:615-25 pubmed
    ..Our observations suggest that the consequences of defective protein trafficking could underlie the molecular mechanism associated with degeneration of the macula in the patients with adMD/STGD3. ..
  63. Swanson C, Schwimmer D, Barolo S. Rapid evolutionary rewiring of a structurally constrained eye enhancer. Curr Biol. 2011;21:1186-96 pubmed publisher
    ..Our findings demonstrate that even a severely constrained cis-regulatory sequence can be significantly rewired over a short evolutionary timescale. ..
  64. Rozsa F, Scott K, Pawar H, Moroi S, Richards J. Effects of timolol on MYOC, OPTN, and WDR36 RNA levels. Arch Ophthalmol. 2008;126:86-93 pubmed publisher
    ..A broader survey of interindividual variation in response to timolol as well as mechanistic studies are still needed before potential therapeutic implications can be explored. ..
  65. Felius J, Thompson D, Khan N, Bingham E, Jamison J, Kemp J, et al. Clinical course and visual function in a family with mutations in the RPE65 gene. Arch Ophthalmol. 2002;120:55-61 pubmed
    ..The retinal and functional changes in the father carrying a presumed functional null allele suggest that some RPE65 heterozygous carriers may manifest visual symptoms. ..
  66. Lauderdale J, Wilensky J, Oliver E, Walton D, Glaser T. 3' deletions cause aniridia by preventing PAX6 gene expression. Proc Natl Acad Sci U S A. 2000;97:13755-9 pubmed
    ..Our findings suggest that remote 3' regulatory elements are required for initiation of PAX6 expression...
  67. Murga Zamalloa C, Atkins S, Peranen J, Swaroop A, Khanna H. Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration. Hum Mol Genet. 2010;19:3591-8 pubmed publisher
    ..We propose that perturbation of RPGR-RAB8A interaction, at least in part, underlies the pathogenesis of photoreceptor degeneration in XLRP caused by RPGR mutations. ..
  68. Jones J, Ranscht B, Berglund E, Gruenheid S, Gros P, Meisler M. Close linkage of three neuronal genes on distal mouse chromosome 15. Mamm Genome. 1996;7:696-7 pubmed