Genomes and Genes
Summary: PROTEINS derived from TISSUES of the EYE.
- Boucherie C, Mukherjee S, Henckaerts E, Thrasher A, Sowden J, Ali R. Brief report: self-organizing neuroepithelium from human pluripotent stem cells facilitates derivation of photoreceptors. Stem Cells. 2013;31:408-14 pubmed publisher..Directed differentiation into photoreceptors using this protocol is also possible with human-induced pluripotent stem (hiPS) cells, facilitating the use of patient-specific hiPS cell lines for regenerative medicine and disease modeling. ..
- Huang J, Zhang Y, Rittenhouse K, Pickering E, McDowell M. Evaluations of tear protein markers in dry eye disease: repeatability of measurement and correlation with disease. Invest Ophthalmol Vis Sci. 2012;53:4556-64 pubmed publisher..We characterized tear protein markers in dry eye disease (DED)...
- Davidson A, Sergouniotis P, Mackay D, Wright G, Waseem N, Michaelides M, et al. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Hum Mutat. 2013;34:506-14 pubmed publisher..These findings imply an important and diverse role for RP1L1 in human retinal physiology and disease...
- Gattu A, Birkenfeld A, Jornayvaz F, Dziura J, Li F, Crawford S, et al. Insulin resistance is associated with elevated serum pigment epithelium-derived factor (PEDF) levels in morbidly obese patients. Acta Diabetol. 2012;49 Suppl 1:S161-9 pubmed publisher..016). These data demonstrate that serum PEDF concentrations better relate to insulin resistance than to adiposity and suggest that PEDF expression is closely linked to the development of insulin resistance. ..
- Versura P, Bavelloni A, Blalock W, Fresina M, Campos E. A rapid standardized quantitative microfluidic system approach for evaluating human tear proteins. Mol Vis. 2012;18:2526-37 pubmed..To explore the potential of a chip-based miniaturized capillary gel electrophoresis device in a quantitative evaluation of the human tear protein profile and to validate the method...
- Shaham O, Gueta K, Mor E, Oren Giladi P, Grinberg D, Xie Q, et al. Pax6 regulates gene expression in the vertebrate lens through miR-204. PLoS Genet. 2013;9:e1003357 pubmed publisher..Collectively, this study identifies a novel evolutionarily conserved mechanism by which Pax6 controls the down-regulation of multiple genes through direct up-regulation of miR-204. ..
- Senthil Kumar G, Kyle J, Minogue P, Dinesh Kumar K, Vasantha K, Berthoud V, et al. An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. Exp Eye Res. 2013;110:136-41 pubmed publisher..They emphasize the importance of AQP0 for maintenance of lens transparency and identify a critical residue that is conserved among aquaporins, but has not previously been associated with disease-associated replacement. ..
- Ajmal M, Khan M, Micheal S, Ahmed W, Shah A, Venselaar H, et al. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa. Mol Vis. 2012;18:1226-37 pubmed..Homozygosity mapping, combined with candidate-gene analysis, successfully identified genetic defects in TULP1 in two large Pakistani families with early-onset retinitis pigmentosa. ..
- Srinivasan S, Thangavelu M, Zhang L, Green K, Nichols K. iTRAQ quantitative proteomics in the analysis of tears in dry eye patients. Invest Ophthalmol Vis Sci. 2012;53:5052-9 pubmed publisher..We analyzed the change in protein expression of tear film proteins in dry eye (DE) and non-DE (NDE) patients using isobaric tag for relative and absolute quantitation (iTRAQ) technology...
- Pan F, Keung J, Kim I, Snuggs M, Mills S, O BRIEN J, et al. Connexin 57 is expressed by the axon terminal network of B-type horizontal cells in the rabbit retina. J Comp Neurol. 2012;520:2256-74 pubmed publisher..Thus, in species where there are two types of HC, different connexins are expressed. The absence of Cx57 labeling in the somatic dendrites of B-type HCs suggests the possibility of an additional unidentified HC connexin in the rabbit...
- Shaham O, Menuchin Y, Farhy C, Ashery Padan R. Pax6: a multi-level regulator of ocular development. Prog Retin Eye Res. 2012;31:351-76 pubmed publisher..Pax6 functions at multiple levels to integrate extracellular information and execute cell-intrinsic differentiation programs that culminate in the specification and differentiation of a distinct ocular lineage. ..
- Bharti K, Gasper M, Ou J, Brucato M, Clore Gronenborn K, Pickel J, et al. A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development. PLoS Genet. 2012;8:e1002757 pubmed publisher..The results suggest that careful manipulation of the Pax6 regulatory circuit may facilitate the generation of retinal and pigment epithelium cells from embryonic or induced pluripotent stem cells. ..
- Zhou W, Hong Y. Drosophila Patj plays a supporting role in apical-basal polarity but is essential for viability. Development. 2012;139:2891-6 pubmed publisher..In addition, our results confirm that dPatj possesses an as yet unidentified function that is essential for pupal development. ..
- Jusiak B, Abulimiti A, Haelterman N, Chen R, Mardon G. MAPK target sites of eyes absent are not required for eye development or survival in Drosophila. PLoS ONE. 2012;7:e50776 pubmed publisher..These findings indicate similar genomic rescue strategies may prove useful for re-evaluating other long-standing Drosophila developmental models. ..
- ..This article will review the clinical manifestations, the molecular basis including genotype-phenotype correlations, diagnostic approaches and management of aniridia. ..
- Xu F, Sui R, Liang X, Li H, Jiang R, Dong F. Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients. Mol Vis. 2012;18:3021-xxx pubmed
- Han K, Woo J, Park H, Yoon B, Choi S, Lee C. Channel-mediated astrocytic glutamate release via Bestrophin-1 targets synaptic NMDARs. Mol Brain. 2013;6:4 pubmed publisher..Our results indicate that astrocytic glutamate via Best1 channel targets and activates synaptic NMDARs. ..
- Tan M, Mackay D, Cowing J, Tran H, Smith A, Wright G, et al. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. PLoS ONE. 2012;7:e32330 pubmed publisher..This data suggests that there are patients who have a reasonable window of opportunity for gene therapy in childhood. ..
- Mi D, Carr C, Georgala P, Huang Y, Manuel M, Jeanes E, et al. Pax6 exerts regional control of cortical progenitor proliferation via direct repression of Cdk6 and hypophosphorylation of pRb. Neuron. 2013;78:269-84 pubmed publisher..Our results indicate that Pax6's modulation of cortical progenitor cell cycles is regional and direct. ..
- Wang H, Feng L, Hu J, Xie C, Wang F. Differentiating vitreous proteomes in proliferative diabetic retinopathy using high-performance liquid chromatography coupled to tandem mass spectrometry. Exp Eye Res. 2013;108:110-9 pubmed publisher..These data provide insight into the molecular events possibly involved in the pathogenesis of PDR and widen the scope of potential avenues for new therapies for PDR...
- Preising M, Pasquay C, Friedburg C, Bowl W, Jager M, Andrassi Darida M, et al. [Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood]. Klin Monbl Augenheilkd. 2012;229:1009-17 pubmed publisher..This is not only due to its low prevalence, but also to the phenotypic appearance. This paper describes typical features in two patients and discusses novel findings using improved ophthalmological diagnostic tools...
- Siemiatkowska A, Astuti G, Arimadyo K, den Hollander A, Faradz S, Cremers F, et al. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. Mol Vis. 2012;18:2411-9 pubmed..The purpose of this study was to identify the underlying molecular genetic defect in an Indonesian family with three affected individuals who had received a diagnosis of retinitis pigmentosa (RP)...
- Morillo S, Braid L, Verheyen E, Rebay I. Nemo phosphorylates Eyes absent and enhances output from the Eya-Sine oculis transcriptional complex during Drosophila retinal determination. Dev Biol. 2012;365:267-76 pubmed publisher..Thus, we propose that Nmo phosphorylation of Eya potentiates its transactivation function to enhance transcription of Eya-So target genes during eye specification and development. ..
- Liu X, Sano T, Guan Y, Nagata S, Hoffmann J, Fukuyama H. Drosophila EYA regulates the immune response against DNA through an evolutionarily conserved threonine phosphatase motif. PLoS ONE. 2012;7:e42725 pubmed publisher..Our data provide the first in vivo demonstration for the immune function of EYA and point to their conserved immune function in response to endogenous DNA, throughout evolution. ..
- Hernandez C, Simo R. Neuroprotection in diabetic retinopathy. Curr Diab Rep. 2012;12:329-37 pubmed publisher..In this review we will focus on neurotrophic factors already synthesized by the retina in physiological conditions as a new therapy strategy for neuroprotection. ..
- Cascavilla M, Querques G, Stenirri S, Battaglia Parodi M, Querques L, Bandello F. Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy. Ophthalmic Res. 2012;48:146-50 pubmed publisher..This case of unilateral vitelliform phenotype further supports the notion that ARB represents a disease spectrum in terms of severity, age at onset and heritability. ..
- Kannabiran C, Singh H, Sahini N, Jalali S, Mohan G. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. Mol Vis. 2012;18:1165-74 pubmed..To identify genes underlying autosomal recessive retinitis pigmentosa (ARRP) by homozygosity mapping...
- Gosmain Y, Cheyssac C, Masson M, Guerardel A, Poisson C, Philippe J. Pax6 is a key component of regulated glucagon secretion. Endocrinology. 2012;153:4204-15 pubmed publisher..We propose that Pax6 is not only critical for glucagon biosynthesis but also for glucagon secretion particularly in response to nutrients. ..
- Graziussi D, Suga H, Schmid V, Gehring W. The "eyes absent" (eya) gene in the eye-bearing hydrozoan jellyfish Cladonema radiatum: conservation of the retinal determination network. J Exp Zool B Mol Dev Evol. 2012;318:257-67 pubmed publisher..These data suggest that several members of the RDGN have begun to be localized also into the different context of egg development early in the course of metazoan evolution. ..
- Venturini G, Rose A, Shah A, Bhattacharya S, Rivolta C. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS Genet. 2012;8:e1003040 pubmed publisher..In asymptomatic carriers CNOT3 is expressed at low levels, allowing higher amounts of wild-type PRPF31 transcripts to be produced and preventing manifestation of retinal degeneration...
- Watanabe K, Wada K, Ohashi T, Okubo S, Takekuma K, Hashizume R, et al. A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo rats. PLoS ONE. 2012;7:e50737 pubmed publisher..Therefore, the kfrs4 rat represents the first characterised rat model with a recessive mutation in the Mip gene. ..
- Liu T, Zhao Y, Tang N, Feng R, Yang X, Lu N, et al. Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing. PLoS ONE. 2012;7:e46934 pubmed publisher..We identified proSAAS as a novel down-regulated target of Pax6 in the regulation of glucose metabolism. This study also provides a complete molecular mechanism for the Pax6 deficiency-caused diabetes. ..
- Gosmain Y, Katz L, Masson M, Cheyssac C, Poisson C, Philippe J. Pax6 is crucial for ?-cell function, insulin biosynthesis, and glucose-induced insulin secretion. Mol Endocrinol. 2012;26:696-709 pubmed publisher..We provide further evidence that Pax6 represents a key element of mature ?-cell function. ..
- Boon C, van den Born L, Visser L, Keunen J, Bergen A, Booij J, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology. 2013;120:809-20 pubmed publisher..To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB)...
- Avila Fernandez A, Corton M, Nishiguchi K, Muñoz Sanz N, Benavides Mori B, Blanco Kelly F, et al. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis. Ophthalmology. 2012;119:2616-21 pubmed publisher..To identify the genetic causes underlying early-onset autosomal recessive retinitis pigmentosa (arRP) in the Spanish population and describe the associated phenotype...
- Burdon K, Vincent A. Insights into keratoconus from a genetic perspective. Clin Exp Optom. 2013;96:146-54 pubmed publisher..These gene identifications are beginning to reveal the molecular aetiology of keratoconus but despite this recent progress, there remain numerous genetic risk factors to be identified for this relatively common yet complex disease. ..
- Seko Y, Azuma N, Kaneda M, Nakatani K, Miyagawa Y, Noshiro Y, et al. Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD. PLoS ONE. 2012;7:e35611 pubmed publisher..The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation. These findings contribute substantially to a major advance toward eventual cell-based therapy for retinal degenerative diseases...
- Blanco Kelly F, Garcia Hoyos M, Corton M, Avila Fernandez A, Riveiro Alvarez R, Gimenez A, et al. Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa. Mol Vis. 2012;18:1478-83 pubmed..Diagnostic accuracy was 15.1%. The adRP genotyping microarray is a quick, cost-efficient first step in the molecular diagnosis of Spanish patients with adRP. ..
- Dismuke W, McKay B, Stamer W. Myocilin, a component of a membrane-associated protein complex driven by a homologous Q-SNARE domain. Biochemistry. 2012;51:3606-13 pubmed publisher..By identifying the Q-SNARE homology within the second coil of myocilin and documenting its participation in a SNARE-like complex, we provide evidence of a SNARE domain-containing protein associated with a human disease. ..
- Anholt R, Carbone M. A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response. Trends Mol Med. 2013;19:586-93 pubmed publisher..This mechanism of POAG is reminiscent of other age-dependent neurodegenerative diseases that involve accumulation of protein aggregates. ..
- Muranishi Y, Terada K, Furukawa T. An essential role for Rax in retina and neuroendocrine system development. Dev Growth Differ. 2012;54:341-8 pubmed publisher..This review highlights the biological functions and molecular mechanisms of RAX in retina, pituitary, hypothalamus, and pineal gland development. ..
- Vigneswara V, Berry M, Logan A, Ahmed Z. Pigment epithelium-derived factor is retinal ganglion cell neuroprotective and axogenic after optic nerve crush injury. Invest Ophthalmol Vis Sci. 2013;54:2624-33 pubmed publisher..This study is the first to demonstrate that PEDF enhances both RGC survival and axon regeneration in vitro and in vivo. ..
- Beryozkin A, Zelinger L, Bandah Rozenfeld D, Harel A, Strom T, Merin S, et al. Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations. Invest Ophthalmol Vis Sci. 2013;54:2068-75 pubmed publisher..We evaluated the role of Crumbs homolog 1 (CRB1) in autosomal recessive (AR) retinal diseases in the Israeli and Palestinian populations using homozygosity mapping...
- Balasubramanian S, Mohan S, Pye D, Willcox M. Proteases, proteolysis and inflammatory molecules in the tears of people with keratoconus. Acta Ophthalmol. 2012;90:e303-9 pubmed publisher..Further investigations are required to study the possible implications of these changes and whether they can be used to monitor disease progression or determine the success of corneal collagen cross-linking. ..
- Wang P, Sun W, Li S, Xiao X, Guo X, Zhang Q. PAX6 mutations identified in 4 of 35 families with microcornea. Invest Ophthalmol Vis Sci. 2012;53:6338-42 pubmed..4% of microcorneas in this cohort. The findings not only expand the spectrum of PAX6 mutations, but also suggest that PAX6 mutations may be a common cause of microcornea. ..
- Roosing S, van den Born L, Hoyng C, Thiadens A, De Baere E, Collin R, et al. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology. 2013;120:1239-46 pubmed publisher..The author(s) have no proprietary or commercial interest in any materials discussed in this article. ..
- Utz V, Beight C, Marino M, Hagstrom S, Traboulsi E. Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion. Ophthalmic Genet. 2013;34:183-8 pubmed publisher..The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene...
- Woo D, Han K, Shim J, Yoon B, Kim E, Bae J, et al. TREK-1 and Best1 channels mediate fast and slow glutamate release in astrocytes upon GPCR activation. Cell. 2012;151:25-40 pubmed publisher..Our results reveal two distinct sources of astrocytic glutamate that can differentially influence neighboring neurons. ..
- Rose A, Shah A, Waseem N, Chakarova C, Alfano G, Coussa R, et al. Expression of PRPF31 and TFPT: regulation in health and retinal disease. Hum Mol Genet. 2012;21:4126-37 pubmed publisher..Analysis of the mutant promoter fragment from CAN493 showed a >50% reduction in promoter activity, suggesting a disease mechanism of functional haploinsufficiency-the first report of this disease mechanism in adRP. ..
- Gómez N, Tamm E, Strauβ O. Role of bestrophin-1 in store-operated calcium entry in retinal pigment epithelium. Pflugers Arch. 2013;465:481-95 pubmed publisher..In conclusion we found that a proportion of bestrophin-1 is functionally localized to ER Ca(2+) stores where it influences the amount of Ca(2+) and therefore Ca(2+) signals which result from activation of Orai-1 via Stim-1. ..