Research Topics
Genomes and GenesSpecies | Monica M JablonskiSummaryAffiliation: University of Tennessee Country: USA Publications
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Publications
The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1Monica M Jablonski
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN, USA
Mol Vis 10:577-87. 2004..We also have fine-mapped the mutation, ldis1 (lens disrupter 1), and have evaluated positional candidate genes...- The intact Xenopus laevis eye rudiment: a quasi-in vivo system for the study of retinal development and degenerationsMonica M Jablonski
Department of Ophthalmology, University of Tennessee Health Science Center, 956 Court Avenue, Suite D228, Memphis, TN 38163, USA
Adv Exp Med Biol 533:189-96. 2003 - An ENU-induced mutation in Rs1h causes disruption of retinal structure and functionMonica M Jablonski
Department of Ophthalmology, University of Tennessee Health Science Center and Tennessee Mouse Genome Consortium, Memphis, TN, USA
Mol Vis 11:569-81. 2005..Herein we present its retinal phenotype and genetic basis... 
Age-related decline in VIP-positive parasympathetic nerve fibers in the human submacular choroidMonica M Jablonski
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA
Invest Ophthalmol Vis Sci 48:479-85. 2007..The current study was conducted to examine the possibility that an age-related loss of these fibers might occur in the submacular choroid in humans, and thus contribute to a decline in ChBF...- Cellular retinol binding protein 1 modulates photoreceptor outer segment folding in the isolated eyeXiaofei Wang
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee, USA
Dev Neurobiol 70:623-35. 2010.... - The Tennessee Mouse Genome Consortium: identification of ocular mutantsMonica M Jablonski
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
Vis Neurosci 22:595-604. 2005..Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study... - In search of the identity of the XAP-1 antigen: a protein localized to cone outer segmentsSuba Nookala
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
Invest Ophthalmol Vis Sci 51:2736-43. 2010..To determine the identity of the XAP-1 antigen. The XAP-1 antibody has been used by many investigators and is recognized as an index of photoreceptor outer segment maturity, yet its antigen remains unknown... - Complex interactions of Tyrp1 in the eyeHong Lu
Department of Ophthalmology, Hamilton Eye Institute, University of Tennessee Health Science Center, Memphis, TN, USA
Mol Vis 17:2455-68. 2011.... - Proteomic analysis of the retina: removal of RPE alters outer segment assembly and retinal protein expressionXiaofei Wang
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA
Glia 57:380-92. 2009.... - Clinical and functional findings in choroideremia due to complete deletion of the CHM geneMarco Mura
Retinal Degeneration and Ophthalmic Genetics Service, Hamilton Eye Institute, University of Tennessee Health Science Center, 930 Madison Ave, Ste 731, Memphis, TN 38163, USA
Arch Ophthalmol 125:1107-13. 2007..To report the clinical, functional, and in vivo microanatomic characteristics of a family with choroideremia with a deletion of the entire gene that encodes for the Rab escort protein 1 (CHM)... - An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutationAlessandro Iannaccone
Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA
Vision Res 46:3845-52. 2006.... - Permissive glycan support of photoreceptor outer segment assembly occurs via a non-metabolic mechanismXiaofei Wang
Retinal Degeneration Research Center, Department of Ophthalmology, The University of Tennessee, Memphis, TN, USA
Mol Vis 9:701-9. 2003..Moreover, this effect is supported by a non-metabolic mechanism and is therefore not accounted for by simple provision of an energy source... - Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 miceElijah Talamas
Department of Ophthalmology, Eye Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Genomics 88:44-51. 2006..In humans, mutations in HSF4 have been associated with both autosomal dominant and recessive cataracts. The lop11 mouse is an excellent resource for evaluating the role of Hsf4 in transparency of the lens... - Innate immune network in the retina activated by optic nerve crushJustin P Templeton
Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee
Invest Ophthalmol Vis Sci 54:2599-606. 2013..We have used transcriptome profiling in the mouse to identify a network of genes involved in innate immunity that is present in the normal retina and that is activated by optic nerve crush (ONC)... - Downregulation of a unique photoreceptor protein correlates with improper outer segment assemblyAmira Wohabrebbi
Department of Ophthalmology, the Retinal Degeneration Research Center, The University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA
J Neurosci Res 67:298-308. 2002.... - Genetic pathways regulating glutamate levels in retinal Müller cellsMonica M Jablonski
Department of Ophthalmology, Hamilton Eye Institute, University of Tennessee Health Science Center, Memphis, TN 38163, USA
Neurochem Res 36:594-603. 2011.... - Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor geneAmy C Martin
Department of Hematology Oncology, St Jude Children s Research Hospital, Memphis, Tennessee 38105, USA
Invest Ophthalmol Vis Sci 45:3387-96. 2004..The present work addressed the pathogenesis of PHPV in a mouse model that replicates many aspects of the human disease... - Mice with targeted genetic reduction of GABA(A) receptor alpha1 subunits display performance differences in Morris water maze tasksRaymond B Berry
Department of Psychology, The University of Memphis, Memphis, TN 38152, USA
Neurobiol Learn Mem 90:580-3. 2008..These results suggested that normal performance of the spatial and nonspatial water maze tasks may be dependent upon a natural alpha1 subunit array... - Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 geneAlessandro Iannaccone
Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee, USA
Am J Med Genet A 132:343-6. 2005..This finding broadens the spectrum of clinical manifestations associated with BBS, confirms the role of BBS4 in olfaction, and lends support to the hypothesis that ciliary dysfunction is an important aspect of BBS pathogenesis... - Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the proteinRajesh Ambasudhan
Kellogg Eye Center, Ophthalmology, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
Genomics 83:615-25. 2004..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... - An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retinaEkaterina Semenova
Howard Hughes Medical Institute, Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA
Hum Mol Genet 12:1301-12. 2003..We suggest that the increase in severity may reflect an interaction between Uchl3 and Lmo7 in the ubiquitin-mediated protein degradation pathway... - Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degenerationVidyullatha Vasireddy
Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
Invest Ophthalmol Vis Sci 47:4558-68. 2006..To develop and characterize a heterozygous knock-in mouse model carrying the 5-bp deletion in Elovl4 (E_mut+/-) and to study the pathology underlying Stargardt-like macular degeneration (STGD3)... - Spatial and temporal expression of MFRP and its interaction with CTRP5Md Nawajes A Mandal
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA
Invest Ophthalmol Vis Sci 47:5514-21. 2006..The purpose of this study was to characterize the spatial and temporal expression of the mouse Mfrp gene, determine tissue and subcellular localization of MFRP protein, and study its interaction with CTRP5... - CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretionMd Nawajes A Mandal
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA
Invest Ophthalmol Vis Sci 47:5505-13. 2006..The purpose of this study was to characterize the spatial and temporal expression of the mouse Ctrp5 gene, determine tissue and subcellular localization, and study the effect of the S163R mutation... - Increasing evidence for syndromic phenotypes associated with RPGR mutationsAlessandro Iannaccone
Am J Ophthalmol 137:785-6; author reply 786. 2004 - Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutationsRobert K Koenekoop
McGill Ocular Genetics Laboratory, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
Arch Ophthalmol 120:1325-30. 2002..In the future, LCA may become treatable by gene and/or pharmacological intervention, and these therapies will likely be gene specific, giving major significance to rapid gene identification and gene-phenotype studies... - Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomesVidyullatha Vasireddy
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
Mol Vis 11:665-76. 2005....
Research Grants
- Proteomic Analysis of the RetinaMONICA JABLONSKI; Fiscal Year: 2007..These studies will also generate the framework for future project periods in which the precise molecular mechanisms and detailed pathways that control photoreceptor outer segment assembly will be determined. ..