scholarly journals The Molecular Basis of Human Anophthalmia and Microphthalmia

2019 ◽  
Vol 7 (3) ◽  
pp. 16 ◽  
Author(s):  
Harding ◽  
Moosajee
Keyword(s):  
Molecular Basis ◽  
Pluripotent Stem Cell ◽  
Eye Development ◽  
Induced Pluripotent Stem Cell ◽  
Structural Basis ◽  
Signalling Pathways ◽  
Temporal Expression ◽  
Key Genes ◽  
Induced Pluripotent ◽  
Eye Formation

Human eye development is coordinated through an extensive network of genetic signalling pathways. Disruption of key regulatory genes in the early stages of eye development can result in aborted eye formation, resulting in an absent eye (anophthalmia) or a small underdeveloped eye (microphthalmia) phenotype. Anophthalmia and microphthalmia (AM) are part of the same clinical spectrum and have high genetic heterogeneity, with >90 identified associated genes. By understanding the roles of these genes in development, including their temporal expression, the phenotypic variation associated with AM can be better understood, improving diagnosis and management. This review describes the genetic and structural basis of eye development, focusing on the function of key genes known to be associated with AM. In addition, we highlight some promising avenues of research involving multiomic approaches and disease modelling with induced pluripotent stem cell (iPSC) technology, which will aid in developing novel therapies.

Induced pluripotent stem cell technology: trends in molecular biology, from genetics to epigenetics

Epigenomics ◽  
2021 ◽  
Author(s):  
Amirhosein Maali ◽  
Faezeh Maroufi ◽  
Farzin Sadeghi ◽  
Amir Atashi ◽  
Reza Kouchaki ◽  
...  
Keyword(s):  
Stem Cell ◽  
Molecular Basis ◽  
Regulatory Networks ◽  
Pluripotent Stem Cell ◽  
Induced Pluripotent Stem Cell ◽  
Basic Research ◽  
Retroviral Vectors ◽  
New Approach ◽  
Reprogramming Factors ◽  
Induced Pluripotent

Induced pluripotent stem cell (iPSC) technology, based on autologous cells’ reprogramming to the embryonic state, is a new approach in regenerative medicine. Current advances in iPSC technology have opened up new avenues for multiple applications, from basic research to clinical therapy. Thus, conducting iPSC trials have attracted increasing attention and requires an extensive understanding of the molecular basis of iPSCs. Since iPSC reprogramming is based on the methods inducing the expression of specific genes involved in pluripotency states, it can be concluded that iPSC reprogramming is strongly influenced by epigenetics. In this study, we reviewed the molecular basis of reprogramming, including the reprogramming factors (OCT4, SOX2, KLF4, c-MYC, NANOG, ESRRB, LIN28 as well as their regulatory networks), applied vectors (retroviral vectors, adenoviral vectors, Sendaiviral vectors, episomal plasmids, piggyBac, simple vectors, etc.) and epigenetic modifications (miRNAs, histones and DNA methylation states) to provide a comprehensive guide for reprogramming studies.

Use of 3D culture systems to generate human induced pluripotent stem cell-derived [beta]-cells in vitro

2018 ◽  
Author(s):  
Fantuzzi Federica ◽  
Toivonen Sanna ◽  
Schiavo Andrea Alex ◽  
Pachera Nathalie ◽  
Rajaei Bahareh ◽  
...  
Keyword(s):  
Stem Cell ◽  
Beta Cells ◽  
Pluripotent Stem Cell ◽  
3D Culture ◽  
Induced Pluripotent Stem Cell ◽  
Culture Systems ◽  
Induced Pluripotent
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