Relevant bibliographies by topics / Anterior segment dysgenesis

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters

Academic literature on the topic 'Anterior segment dysgenesis'

Author: Grafiati
Published: 4 June 2021
Last updated: 12 February 2022

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Journal articles on the topic "Anterior segment dysgenesis"

1

Stahl, Erin D. "Anterior Segment Dysgenesis." International Ophthalmology Clinics 54, no. 3 (2014): 95–104. http://dx.doi.org/10.1097/iio.0000000000000031.

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Banitt, M. R., A. Romano, S. Iragavarapu, D. L. Budenz, and R. K. Lee. "Forme fruste anterior segment dysgenesis." British Journal of Ophthalmology 95, no. 12 (August 30, 2010): 1756–57. http://dx.doi.org/10.1136/bjo.2009.177535.

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Cook, Cynthia S. "Experimental models of anterior segment dysgenesis." Ophthalmic Paediatrics and Genetics 10, no. 1 (January 1989): 33–46. http://dx.doi.org/10.3109/13816818909083771.

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Reis, Linda M., and Elena V. Semina. "Genetics of anterior segment dysgenesis disorders." Current Opinion in Ophthalmology 22, no. 5 (September 2011): 314–24. http://dx.doi.org/10.1097/icu.0b013e328349412b.

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Churchill, A., and A. Booth. "Genetics of aniridia and anterior segment dysgenesis." British Journal of Ophthalmology 80, no. 7 (July 1, 1996): 669–73. http://dx.doi.org/10.1136/bjo.80.7.669.

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Lloyd, I. C., P. M. Haigh, J. Clayton-Smith, P. Clayton, D. A. Price, A. E. A. Ridgway, and D. Donnai. "Anterior segment dysgenesis in mosaic Turner syndrome." British Journal of Ophthalmology 81, no. 8 (August 1, 1997): 639–43. http://dx.doi.org/10.1136/bjo.81.8.639.

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Harissi-Dagher, Mona, and Kathryn Colby. "Anterior Segment Dysgenesis: Peters Anomaly and Sclerocornea." International Ophthalmology Clinics 48, no. 2 (2008): 35–42. http://dx.doi.org/10.1097/iio.0b013e318169526c.

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Ito, Yoko A., and Michael A. Walter. "Genomics and anterior segment dysgenesis: a review." Clinical & Experimental Ophthalmology 42, no. 1 (July 29, 2013): 13–24. http://dx.doi.org/10.1111/ceo.12152.

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Williams, D. L. "A comparative approach to anterior segment dysgenesis." Eye 7, no. 5 (September 1993): 607–16. http://dx.doi.org/10.1038/eye.1993.142.

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Bloch, Edward, Maria Pefkianaki, and Jamil Hakim. "An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis." European Journal of Ophthalmology 28, no. 2 (August 11, 2017): 253–55. http://dx.doi.org/10.5301/ejo.5001073.

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Abstract:
Purpose: Pigmentary maculopathy can occur in the context of various inherited and acquired diseases. Anterior segment dysgenesis arises due to developmental anomalies and may be associated with systemic disease, as in Rieger syndrome. Case report: A 49-year-old woman presented with longstanding reduction in vision, evidence of anterior segment dysgenesis, and multiple discrete pigmented lesions throughout the macula bilaterally. Electroretinographic findings were consistent with severe macular dysfunction. Gene array analysis did not reveal any chromosomal imbalances or other specific abnormalities. Conclusions: This is a unique case of bilateral pigmentary maculopathy and anterior segment dysgenesis, with clinical findings that are not characteristic of previously reported disease.
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Dissertations / Theses on the topic "Anterior segment dysgenesis"

1

Fetterman, Christina. "Forkhead evolution and the FOXC1 inhibitory domain." Phd thesis, 2011. http://hdl.handle.net/10048/1801.

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Forkhead (Fox) proteins are transcription factors that function in many processes including development, metabolism and cell cycle regulation. This gene family is divided into subfamilies that appear to originate from a common ancestor. I have identified the evolutionary selection pressures acting on individual amino acid positions in the FoxA, FoxC, FoxD, FoxI, FoxO and FoxP subfamilies. The patterns of selection observed allowed for the prediction of residue function and identification of residues that differentiate orthologs and paralogs. The subfamily structure and negative selection found within the subfamilies indicates that after gene duplication, differentiation of subfamilies through amino acid changes and subsequent negative selection on these changes has occurred. Meanwhile, the observed neutral changes and positive selection allow for further protein differentiation. Within the FoxC subfamily, positive selection was identified at one amino acid site in the inhibitory domain. Mutation of this site in FOXC1 alters transactivation activity and the effects of mutants on transactivation activity are different on different reporters. The mutant effects were consistent with those of known disease causing mutations, supporting the predicted positive selection. The inhibitory domain is known to function in reducing FOXC1 transactivation activity and influences protein stability. Here I additionally show that loss of the inhibitory domain and mutation of the positively selected site can reduce FOXC1 DNA binding. Co-transfection of FOXC1 and TLE4, a repressor protein that can potentially bind to the inhibitory domain, was shown to increase FOXC1 transactivation activity. The effects of a novel disease causing FOXC1 inhibitory domain mutation on FOXC1 function were also assessed. The mutation reduced FOXC1 transactivation activity and increased protein half-life both of which may lead to disease. Regulation of FOXC1 activity is critical for normal function and this work has furthered our knowledge of how the inhibitory domain influences FOXC1 activity. I have provided biological evidence for the theory that positive selection acts at the amino acid level to optimize protein function. I have also shown that both changes in transcription factor proteins and the cis-regulatory region of target genes have the potential to contribute to evolutionary adaptation.
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Moravíková, Jana. "Molekulárně genetické příčiny vývojových onemocnění předního segmentu oka." Master's thesis, 2018. http://www.nusl.cz/ntk/nusl-380488.

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Abstract:
Proper eye development depends on expression and mutual regulation of many genes. Anterior segment dysgenesis (ASD) are a highly heterogeneous group of diseases exhibiting all types of Mendelian inheritance, which manifest as combination of congenital abnormalities of the cornea, iris, anterior chamber angle or lens. Screening of genes associated with ASD does not often lead to the identification of the underlying genetic cause implying that there are still novel variants or genes to be discovered. Molecular genetic analysis in 12 probands with ASD using Sanger and whole-exome sequencing were performed. Functional analysis by Exon trapping assay was provided in variants predicted to effect pre-mRNA splicing. Four PAX6 mutations evaluated as pathogenic or likely pathogenic in a heterozygous state were found in four probands c.183C˃G; p.(Tyr61*), c.1032+1G>A, c.1183+1G>T and c.622C>T; p.(Arg208Trp). One proband was found to be a compound heterozygote for c.244A>G; p.(Met82Val) and c.541delG; p.(Glu181Lysfs*26) mutations in FOXE3. In 7 probands, no potentially pathogenic variants were identified. Exon trapping assay confirmed that mutations c.1032+1G>A and c.1183+1G>T have an effect on pre-mRNA splicing of the PAX6 gene. Detailed molecular-genetic analysis in patients with ASD may contribute to...
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Book chapters on the topic "Anterior segment dysgenesis"

1

Boente, Charline S., and Faruk H. Örge. "Anterior Segment Dysgenesis Syndromes." In Practical Management of Pediatric Ocular Disorders and Strabismus, 141–47. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4939-2745-6_14.

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Khokhar, Sudarshan Kumar, Yogita Gupta, Abhidnya Surve, and Chirakshi Dhull. "Cataract in Childhood Glaucoma and Anterior Segment Dysgenesis." In Atlas of Pediatric Cataract, 103–14. Singapore: Springer Singapore, 2019. http://dx.doi.org/10.1007/978-981-13-6939-1_11.

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"Anterior Segment Dysgenesis." In Encyclopedia of Ophthalmology, 144. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_100112.

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"Severe Anterior Segment Dysgenesis." In Encyclopedia of Ophthalmology, 1621. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_101595.

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"ASMD (anterior segment mesenchymal dysgenesis)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 149. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_1225.

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"Microphthalmos with Anterior Segment Dysgenesis." In Encyclopedia of Ophthalmology, 1143. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_101118.

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"NEUROCRISTOPATHIES (ANTERIOR SEGMENT DYSGENESES)." In Key Topics in Ophthalmology, 199–201. CRC Press, 2019. http://dx.doi.org/10.3109/9780203450390-53.

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Reis, Linda M., and Elena V. Semina. "PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment." In Epstein's Inborn Errors of Development, 727–31. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199934522.003.0101.

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