Penetrance of <i>MYOC</i> gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis

Xie, Juan‐Juan; Zhang, Guowei; Cui, Hai-Yue; Li, Na; Liu, Xingxing; Hao, Mengyao; Wang, Shaowen; Lü, Hong

doi:10.1080/13816810.2021.2021427

Cited by 2 publications

(2 citation statements)

References 46 publications

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“…In this regard, disease severity varies between individuals due to a strong genotype–phenotype correlation ( 73 ). A meta-analysis of the penetrance of MYOC mutation revealed that except for a few variants (e.g., Pro370Leu, Thr377Arg, Asp380Ala, and Asn480Lys) having a stable penetrance, the penetrance of MYOC mutations can be influenced by factors such as aging, and ethnicity ( 74 ).…”

Section: Resultsmentioning

confidence: 99%

Genetics and Glaucoma: the state of the art

Tirendi,

Domenicotti,

Bassi

et al. 2023

Front. Med.

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Glaucoma is the second leading cause of irreversible blindness worldwide. Although genetic background contributes differently to rare early-onset glaucoma (before age 40) or common adult-onset glaucoma, it is now considered an important factor in all major forms of the disease. Genetic and genomic studies, including GWAS, are contributing to identifying novel loci associated with glaucoma or to endophenotypes across ancestries to enrich the knowledge about glaucoma genetic susceptibility. Moreover, new high-throughput functional genomics contributes to defining the relevance of genetic results in the biological pathways and processes involved in glaucoma pathogenesis. Such studies are expected to advance significantly our understanding of glaucoma’s genetic basis and provide new druggable targets to treat glaucoma. This review gives an overview of the role of genetics in the pathogenesis or risk of glaucoma.

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Section: Resultsmentioning

confidence: 99%

Genetics and Glaucoma: the state of the art

Tirendi,

Domenicotti,

Bassi

et al. 2023

Front. Med.

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“…MYOC is expressed in many ocular tissues, including the TM, and was revealed to be the TM glucocorticoid-inducible response protein (TIGR). Mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma 192 .…”

Section: Evaluating Htmc On Se Scaffoldmentioning

confidence: 99%

Mechanical and morphological modulation of electrospun polymeric scaffolds for tissue engineering applications

Bikuña

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Electrospinning technologies herald the arrival of a new era in which previously unthinkable scaffolds for tissue engineering applications will be solved efficiently. However, electrospinning techniques, like solution electrospinning and melt electrowriting are held down by fabrications parameters, technology limitations, and the application perse. The science of scaffolding fabrication seeks to mimic the extracellular matrix of a particular tissue in ways that mitigates the damage or enables its pathophysiological study. Thenceforce, scaffolds have the primordial role of not only supporting the cells, but to replicate as close as possible the native extracellular matrix, taking into consideration the biocompatibility, biodegradability, morphology and mechanical properties. The last two properties are pivotal in the scaffold ́s outcome, as cells communicate with the environment, and behave in response to external signals. In context of scaffolds ́ assembly, electrospinning fabrication parameters should be correctly modulated, to ensure an appropriate cellular environment. In this dissertation we attempt to tackle this concern relying on solution electrospinning and melt electrowriting techniques. As potential tissue engineering applications, the recreation of an artificial human trabecular meshwork and a skeletal muscle platform are developed. The mechanical and morphological requirements of each tissue are evaluated and fabrication parameters adapted. An in vitro human trabecular meshwork scaffold was developed and validated with human trabecular meshwork cells ́ behavioral studies. With the development of a perfusion bioreactor human trabecular meshwork cells react to medicaments inducing measurable pressure changes. Finally, an attempt for skeletal muscle platform was made. This first approach enabled us the optimization of the process for next attempts.

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Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis

Cited by 2 publications

References 46 publications

Genetics and Glaucoma: the state of the art

Genetics and Glaucoma: the state of the art

Mechanical and morphological modulation of electrospun polymeric scaffolds for tissue engineering applications

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