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  1. 51841
    “…RESULTS: Almost all cases exhibited phenotypes that were at the severe end of the aniridia spectrum with associated ocular alterations such as nystagmus, macular hypoplasia, and congenital cataracts. The mutation detection rate was 30%. …”
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    Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
  2. 51842
    “…Human bestrophin-1 (hBest1), which is genetically linked to several kinds of retinopathy and macular degeneration in both humans and dogs, is the founding member of a family of Cl(−) ion channels that are activated by intracellular Ca(2+). …”
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    Regulation of Bestrophin Cl Channels by Calcium: Role of the C Terminus
  3. 51843
    “…Cell marker showed an excess of large granular lymphocytes and activated lymphocytes. The Glandular Fever Slide Test was positive. …”
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    Glandular fever and pulmonary artery thrombosis in a paraplegic patient, who had undergone splenectomy for splenic trauma sustained along with spinal cord injury: misdiagnosed initially as urine infection and later as lymphoma when CT scan revealed enlarged lymph nodes: a case report
  4. 51844
    “…The key pathological finding is the accumulation of granular osmiophilic material (GOM), which contains extracellular domains of Notch3, on degenerating vascular smooth muscle cells (VSMCs). …”
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    Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
  5. 51845
    “…CONCLUSIONS: Patterns of Eph-A6 expression in the developing macaque retina suggest that Eph-A6 - ephrin-A1 and -A4 repellent signaling has a role in retinal vascular patterning, and in the postnatal maintenance of projections from macular and foveal GC.…”
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    Gradients of Eph-A6 expression in primate retina suggest roles in both vascular and axon guidance
  6. 51846
    “…Light and electron microscopic examinations revealed the presence of degenerating and/or swollen spinal axons accumulating granular aggregates and autophagosome-like vesicles in early- and even pre-symptomatic SOD1(H46R) mice. …”
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    Loss of ALS2/Alsin Exacerbates Motor Dysfunction in a SOD1(H46R)-Expressing Mouse ALS Model by Disturbing Endolysosomal Trafficking
  7. 51847
    “…The use of Exon arrays makes it possible to assess the performance of RNA-Seq in two key areas: detection of expression at the granularity of individual exons, and discovery of transcription outside annotated loci. …”
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    A comparison of massively parallel nucleotide sequencing with oligonucleotide microarrays for global transcription profiling
  8. 51848
    “…CONCLUSIONS: H(2)O(2) stimulated the production of IL-6, a key factor in the modulation of immune responses, inflammatory processes, and the occurrence of autoimmune diseases, which recently has been documented to be increased in age-related macular degeneration (AMD). This may be a molecular linkage for the oxidative stress and inflammatory/autoimmune reactions in AMD and may provide a novel target for the treatment of AMD.…”
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    Subtoxic levels hydrogen peroxide-induced production of interleukin-6 by retinal pigment epithelial cells
  9. 51849
    “…The current torrential influx of new sequence data enables elucidation of more and more protein families, and at an increasingly fine granularity. However, gathering good quality training data usually requires manual attention by experts and has therefore been the rate limiting step for expanding the number of available models. …”
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    Subdivision of the MDR superfamily of medium-chain dehydrogenases/reductases through iterative hidden Markov model refinement
  10. 51850
    “…PURPOSE: Mounting evidence implicates chronic oxidative stress as a significant pathogenic factor in the development and progression of retinopathies, including age-related macular degeneration (AMD). The age-dependent toxic accumulation of oxidatively damaged proteins, lipids, and DNA in susceptible cells of the retina arises, at least in part, from a decreased capacity to eliminate these damaged biomolecules. …”
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    Expression and distribution of the class III ubiquitin-conjugating enzymes in the retina
  11. 51851
    “…PURPOSE: To present genome-wide association analyses of genotypic and environmental risks on age-related macular degeneration (AMD) using 593 subjects from the age-related eye disease study (AREDS), after adjusting for population stratification and including questionable controls. …”
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    Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study
  12. 51852
    por Ren, Wenjie, Neugebauer, Volker
    Publicado 2010
    “…Neuroplasticity in the central nucleus of the amygdala (CeA), particularly its latero-capsular division (CeLC), is an important contributor to the emotional-affective aspects of pain. …”
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    Pain-related increase of excitatory transmission and decrease of inhibitory transmission in the central nucleus of the amygdala are mediated by mGluR1
  13. 51853
    por Seo, J. K., Yeon, K. M., Chi, J. G.
    Publicado 1992
    “…Among 10 children with ulcerative Colitis, there were crypt abscess in 8, granularity or friability in 10 and rectosigmoid ulcerations with purulent exudate in 8 children. …”
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    Inflammatory bowel disease in children--clinical, endoscopic, radiologic and histopathologic investigation.
  14. 51854
    “…Recurrences were seen more commonly in eyes with snow banking (P = 0.011); cystoid macular edema (P = 0.015), and in eyes that received local therapy (P = 0.001). …”
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    Intermediate uveitis in Indian population
  15. 51855
    “…Retinal gliosis occurs in several major degenerative conditions of the eye, including age-related macular degeneration, where angiogenesis is also a prevailing pathological feature. …”
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    A robust model for simultaneously inducing corneal neovascularization and retinal gliosis in the mouse eye
  16. 51856
    “…Higher levels of IL-6 and IL-8 were found in IU patients with cystoid macular edema (CME) compared to non-CME IU patients (p=0.026 and 0.012, respectively). …”
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    Intraocular and serum cytokine profiles in patients with intermediate uveitis
  17. 51857
    “…As well as the well-documented epithelial defects, aberrant Pax6 dosage had profound effects on the corneal stroma and endothelium in both genotypes, including cellular vacuolation, similar to that reported for human macular corneal dystrophy. We used mosaic expression of an X-linked LacZ transgene in X-inactivation mosaic female (XLacZ(Tg/−)) mice to investigate corneal epithelial maintenance by LESC clones in Pax6(+/−) and PAX77(Tg/−) mosaic mice. …”
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    Effects of Aberrant Pax6 Gene Dosage on Mouse Corneal Pathophysiology and Corneal Epithelial Homeostasis
  18. 51858
    “…Melanin has an important role in retinal development, function, and protection against light-induced oxidative stress, and melanin levels are associated with age-related macular degeneration (AMD). Because the levels of and protection afforded by melanin seem to decline with increasing age, proper regulation of the human tyrosinase gene (TYR) in the RPE is an important but insufficiently understood process. …”
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    Regulation of the human tyrosinase gene in retinal pigment epithelium cells: the significance of transcription factor orthodenticle homeobox 2 and its polymorphic binding site
  19. 51859
    “…Neuropathological examination of 14 patients revealed a range of transactive response DNA binding protein molecular weight 43 pathology (10 type A and four type B), as well as ubiquitin-positive cerebellar granular neuron inclusions in all but one case. Motor neuron degeneration was detected in nine patients, including five patients without ante-mortem signs of motor neuron disease. …”
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    Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
  20. 51860
    “…The most often ocular complication leading to visual acuity ≤20/200 was optic atrophy and had been observed in 14 of 32 eyes (43.7%). Macular scar observed in five eyes (15.6%) was the second most often complication. …”
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    Patterns of childhood-onset uveitis in a referral center in Turkey
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