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Cataract and Cataract Surgical Coverage
Published in Ching-Yu Cheng, Tien Yin Wong, Ophthalmic Epidemiology, 2022
Olusola Olawoye, Priya Adhisesha Reddy, Ving Fai Chan, Prabhath Piyasena, Nathan Congdon
More than 25 loci and genes on different chromosomes have been identified in congenital cataracts.46 Distinct gene mutations which encode the cytoplasmic proteins of human lens are associated with cataracts of different morphologies. These include genes coding for crystallins (CRYA, CRYB, and CRYG),47 connexins (Cx43, Cx46, and Cx50),48 major intrinsic proteins,49 cytoskeletal structural proteins,50 and heat shock transcription factor 4 (HSF4).51
Nodulin Function and Nodulin Gene Regulation in Root Nodule Development
Published in Peter M. Gresshoff, Molecular Biology of Symbiotic Nitrogen Fixation, 2018
Nonsymbiotic counterparts have not been identified for peribacteroid membrane nodulins, but it should be realized that the analysis of plant membranes is a relatively new field of research,156 and the relevant analogous genes may simply not have been identified yet. To illustrate our point, Ngm-26 has recently been found homologous to the major intrinsic protein of the bovine eye lens fiber membrane.329 The gene for Ngm-24 is characterized by three direct repeats arranged in tandem, and gene duplication has been implicated in the generation of this gene.131 Because there is very little sequence divergence among the three repeated units of the Ngm-24 gene, the duplication events must have taken place relatively recently in evolution. The peribacteroid membrane nodulins Ngm-20, Ngm-23, Ngm-26b, Ngm-27, and Ngm-44 all have regions in common and regions unique to each nodulin.133,134 Whereas the regions in common may originate from duplication events, presumably starting from a common ancestor, the regions unique to each nodulin suggest the occurrence of various and different recombination events.133 The homologies observed in the 3'-noncoding regions indicate that these recombination events also have taken place relatively recently in evolution. The apparent diversity of recombination events during a short evolutionary period has been suggested to represent a "trial-and-error" mechanism still in progress for the generation of nodule-specific functions.133 Recombination events are more likely to result in totally new genetic information than duplications and subsequent divergence. The peribacteroid membrane nodulin genes may, therefore, be more unique than the nodulin genes discussed above.
Aquaporin 5—in Extracellular Vesicles of Human Vitreous as a Potential Marker for Fungal Endophthalmitis
Published in Current Eye Research, 2023
Jaishree Gandhi, Joveeta Joseph
Based on our previous studies, we found Aquaporin-5 (AQP5) as a signature protein molecule present in EVs during Fungal Endophthalmitis (FE).20,21 Since, aquaporins play a crucial role in physiology and pathology of ocular infections we foresee a remarkable involvement of AQP-5 in intraocular fungal infections. AQP5 is a small integral membrane protein related to the Major Intrinsic Protein (MIP), and recently increasing number of reports have shown the expression of AQP5 and its association with various types of cancers.22–24 AQP5 are reported to have overexpressed in cancer cells, playing key roles in migration of cells, proliferation, and invasion, and additionally, AQP5 also play an important role in the regulation of cancer cells migration and angiogenesis via the various signaling pathways (EGFR/ERK1/2).23,25,26 However, there are no reports on the association of AQP5 with infectious diseases especially fungal infections. In our study, we hypothesized that AQP5 expressions might alter pathological mechanisms during FE and might be a critical protein in fungal infection and inflammation. Thus, our study evaluated the expression of aquaporin-5 in EVs extracted from vitreous of the patients who were diagnosed with infectious FE.
A novel causative mutation for congenital cataract and its underlying pathogenesis
Published in Ophthalmic Genetics, 2019
Yanghui Xiu, Yuanrong Fan, Kangni Wu, Shuimiao Chen, Meihua Pan, Xun Xu, Yihua Zhu
Congenital cataract, characterized by opacities of the lens and decreased visual acuity, is one of the most common eye disorders and a leading cause of blindness in children, with a prevalence of 1–6 cases/10,000 live births worldwide (1). Genetic factors are the most common cause for congenital cataract, which explains approximately half of cataracts. Most congenital cataracts are inherited in autosomal-dominant pattern, although autosomal recessive and X-linked inheritance are also found. So far, more than 60 genes have been linked to congenital cataracts (Cat-Map; http://cat-map.wustl.edu/), including the membrane protein gene MIP, encoding the major intrinsic protein (MIP), a member of aquaporin family of membrane water channels. In Caucasian cohorts, reported genes may explain 60–70% of patients, while only 20–30% of Asian cataract patients have mutations in a known cataract causing gene. Therefore, additional cataract genes and mutations remain to be discovered, especially for the cohort of Asian pediatric cataract patients (2). Herein, we reported a novel causative mutation in the MIP gene in a Chinese congenital cataract family by targeted exon sequencing and revealed its molecular pathogenesis.
Expression of aquaporins mRNAs in patients with otitis media
Published in Acta Oto-Laryngologica, 2018
Su Young Jung, Sung Su Kim, Young Il Kim, Hyung-Sik Kim, Sang Hoon Kim, Seung Geun Yeo
Aquaporins (AQPs) are integral membrane proteins, belonging to a larger family of major intrinsic proteins, which form pores in the membrane of biological cells, mainly facilitating the transport of water between cells [8]. Because of the importance of AQPs in maintaining the homeostasis of water within the ME and ET, many studies have evaluated the levels of expression and roles of AQPs in OM [6,7,9–16]. To our knowledge, however, no study to date has compared levels of expression of AQPs in patients with various types of OM.