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Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes

Koltsov Institute of Developmental Biology, Russian Academy of Sciences, 119334 Moscow, Russia
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Author to whom correspondence should be addressed.
The authors contributed equally to the manuscript.
Int. J. Mol. Sci. 2020, 21(5), 1602; https://doi.org/10.3390/ijms21051602
Received: 31 January 2020 / Revised: 21 February 2020 / Accepted: 24 February 2020 / Published: 26 February 2020
(This article belongs to the Special Issue Rare Diseases: Molecular Mechanisms and Therapeutic Strategies (II))
Retinal development is under the coordinated control of overlapping networks of signaling pathways and transcription factors. The paper was conceived as a review of the data and ideas that have been formed to date on homeobox genes mutations that lead to the disruption of eye organogenesis and result in inherited eye/retinal diseases. Many of these diseases are part of the same clinical spectrum and have high genetic heterogeneity with already identified associated genes. We summarize the known key regulators of eye development, with a focus on the homeobox genes associated with monogenic eye diseases showing retinal manifestations. Recent advances in the field of genetics and high-throughput next-generation sequencing technologies, including single-cell transcriptome analysis have allowed for deepening of knowledge of the genetic basis of inherited retinal diseases (IRDs), as well as improve their diagnostics. We highlight some promising avenues of research involving molecular-genetic and cell-technology approaches that can be effective for IRDs therapy. The most promising neuroprotective strategies are aimed at mobilizing the endogenous cellular reserve of the retina. View Full-Text
Keywords: retina; inherited retinal diseases; homeobox genes; animal models; molecular genetic diagnostics; gene and cell therapy retina; inherited retinal diseases; homeobox genes; animal models; molecular genetic diagnostics; gene and cell therapy
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MDPI and ACS Style

Markitantova, Y.; Simirskii, V. Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes. Int. J. Mol. Sci. 2020, 21, 1602. https://doi.org/10.3390/ijms21051602

AMA Style

Markitantova Y, Simirskii V. Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes. International Journal of Molecular Sciences. 2020; 21(5):1602. https://doi.org/10.3390/ijms21051602

Chicago/Turabian Style

Markitantova, Yuliya; Simirskii, Vladimir. 2020. "Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes" Int. J. Mol. Sci. 21, no. 5: 1602. https://doi.org/10.3390/ijms21051602

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