scholarly journals New insight into the genetics, developmental mechanism and therapeutic targets of Retinitis Pigmentosa

2018 ◽  
Vol 3 ◽  
pp. 68-73
Author(s):  
Luqman Khan ◽  
Qaisar Hanif ◽  
Muhammad Usman
2021 ◽  
Vol 14 ◽  
Author(s):  
Jiurong Cheng ◽  
Yingdong Deng ◽  
Jun Zhou

As a significant public health issue, chronic pain, mainly neuropathic pain (NP) and inflammatory pain, has a severe impact. The underlying mechanisms of chronic pain are enigmatic at present. The roles of ubiquitin have been demonstrated in various physiological and pathological conditions and underscore its potential as therapeutic targets. The dysfunction of the component of the ubiquitin system that occurs during chronic pain is rapidly being discovered. These results provide insight into potential molecular mechanisms of chronic pain. Chronic pain is regulated by ubiquitination, SUMOylation, ubiquitin ligase, and deubiquitinating enzyme (DUB), etc. Insight into the mechanism of the ubiquitin system regulating chronic pain might contribute to relevant therapeutic targets and the development of novel analgesics.


Oncogene ◽  
2019 ◽  
Vol 38 (28) ◽  
pp. 5700-5724 ◽  
Author(s):  
Claire E. Fletcher ◽  
Eric Sulpice ◽  
Stephanie Combe ◽  
Akifumi Shibakawa ◽  
Damien A. Leach ◽  
...  

2015 ◽  
Vol 6 (3) ◽  
pp. 311-316
Author(s):  
A.P. Vignesh ◽  
Renuka Srinivasan ◽  
Swathi Karanth ◽  
Sai Vijitha

Aim: To describe a rare case of Vogt's limbal girdle in a boy with retinitis pigmentosa. Methods: A 13-year-old boy from India presented to us with progressive diminution of vision and nyctalopia for 5 years. On examination, he had the characteristic features of retinitis pigmentosa with the fundus showing disc pallor, bony spicules and arteriolar attenuation. His anterior segment examination showed Vogt's limbal girdle in both eyes. Results: Vogt's limbal girdle is a corneal degeneration usually seen in elderly individuals. This is the first time it is seen in association with retinitis pigmentosa. It has also never been reported at such a young age. Conclusion: We report a rare case where Vogt's limbal girdle was observed in a 13-year-old boy with retinitis pigmentosa. This gives further insight into the pathogenesis of the disease.


2017 ◽  
Vol 13 (6) ◽  
pp. 340-347 ◽  
Author(s):  
Elaine M. Dennison ◽  
Avan A. Sayer ◽  
Cyrus Cooper

2016 ◽  
Vol 11 (3) ◽  
pp. 1621-1630 ◽  
Author(s):  
DANYANG REN ◽  
HUIYING LI ◽  
RENQIU LI ◽  
JIANMING SUN ◽  
PIN GUO ◽  
...  

2021 ◽  
Vol 8 ◽  
Author(s):  
Yi Wei ◽  
Xiang Gao ◽  
Aihua Li ◽  
Mengjun Liang ◽  
Zongpei Jiang

Diabetic kidney disease (DKD) leads to the loss of renal function and cell cross-talk is one of the crucial mechanisms participating in the pathogenesis of DKD. However, the mechanisms of cell communication were not fully elucidated in previous studies. In this study, we performed cell cross-talk analysis using CellPhoneDB based on a single-nucleus transcriptomic dataset (GSE131882) and revealed the associations between cell communication-related genes and renal function, providing overall insight into cell communication in DKD. In addition, this study may facilitate the discovery of novel mechanisms, promising biomarkers, and therapeutic targets that are clinically beneficial to patients.


BMC Biology ◽  
2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Chaofan Xing ◽  
Rongrong Pan ◽  
Guangwei Hu ◽  
Xian Liu ◽  
Yiquan Wang ◽  
...  

Abstract Background Left-right (LR) asymmetry is an essential feature of bilateral animals. Studies in vertebrates show that LR asymmetry formation comprises three major steps: symmetry breaking, asymmetric gene expression, and LR morphogenesis. Although much progress has been made in the first two events, mechanisms underlying asymmetric morphogenesis remain largely unknown due to the complex developmental processes deployed by vertebrate organs. Results We here addressed this question by studying Pitx gene function in the basal chordate amphioxus whose asymmetric organogenesis, unlike that in vertebrates, occurs essentially in situ and does not rely on cell migration. Pitx null mutation in amphioxus causes loss of all left-sided organs and incomplete ectopic formation of all right-sided organs on the left side, whereas Pitx partial loss-of-function leads to milder phenotypes with only some LR organs lost or ectopically formed. At the N1 to N3 stages, Pitx expression is gradually expanded from the dorsal anterior domain to surrounding regions. This leads to activation of genes like Lhx3 and/or Prop1 and Pit, which are essential for left-side organs, and downregulation of genes like Hex and/or Nkx2.1 and FoxE4, which are required for right-side organs to form ectopically on the left side. In Pitx mutants, the left-side expressed genes are not activated, while the right-side genes fail to decrease expression on the left side. In contrast, in embryos overexpressing Pitx genes, the left-side genes are induced ectopically on the right side, and the right-side genes are inhibited. Several Pitx binding sites are identified in the upstream sequences of the left-side and right-side genes which are essential for activation of the former and repression of the latter by Pitx. Conclusions Our results demonstrate that (1) Pitx is a major (although not the only) determinant of asymmetric morphogenesis in amphioxus, (2) the development of different LR organs have distinct requirements for Pitx activity, and (3) Pitx controls amphioxus LR morphogenesis probably through inducing left-side organs and inhibiting right-side organs directly. These findings show much more dependence of LR organogenesis on Pitx in amphioxus than in vertebrates. They also provide insight into the molecular developmental mechanism of some vertebrate LR organs like the lungs and atria, since they show a right-isomerism phenotype in Pitx2 knockout mice like right-sided organs in Pitx mutant amphioxus. Our results also explain why some organs like the adenohypophysis are asymmetrically located in amphioxus but symmetrically positioned in vertebrates.


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