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Molecular Vision

Jiaxing Wang, Ying Li, Rebecca King, Felix L Struebing, Eldon E Geisert
Purpose: The present study is designed to identify the influences of genetic background on optic nerve regeneration using the two parental strains (C57BL/6J and DBA/2J) and seven BXD recombinant inbred mouse strains. Methods: To study regeneration in the optic nerve, Pten was knocked down in the retinal ganglion cells using adenoassociated virus (AAV) delivery of shRNA, and a mild inflammatory response was induced with an intravitreal injection of zymosan with CPT-cAMP...
2018: Molecular Vision
Xiao Zhang, Wai Kitt Chee, Sylvia Liu, Subramaniam Tavintharan, Chee Fang Sum, Su Chi Lim, Neelam Kumari
Purpose: Osteopontin (OPN) is a proinflammatory cytokine with diverse functions. Increased levels of OPN in vitreous fluid have been reported in patients with diabetic retinopathy (DR); however, studies on circulating OPN levels in DR are limited. We aim to examine the association of plasma OPN levels with the presence and severity of DR in a multiethnic cohort with type 2 diabetes mellitus (type 2 diabetes) in Singapore. Methods: Plasma levels of OPN were measured using enzyme-linked immunosorbent assay...
2018: Molecular Vision
Katie L Bales, Lara Ianov, Andrew J Kennedy, J David Sweatt, Alecia K Gross
Purpose: Epigenetic and transcriptional mechanisms have been shown to contribute to long-lasting functional changes in adult neurons. The purpose of this study was to identify any such modifications in diseased retinal tissues from a mouse model of rhodopsin mutation-associated autosomal dominant retinitis pigmentosa (ADRP), Q344X, relative to age-matched wild-type (WT) controls. Methods: We performed RNA sequencing (RNA-seq) at poly(A) selected RNA to profile the transcriptional patterns in 3-week-old ADRP mouse model rhodopsin Q344X compared to WT controls...
2018: Molecular Vision
Yuchuan Wang, Yuan Tian, Jinyong Lin, Luxia Chen, Liming Wang, Peng Hao, Ruifang Han, Ming Ying, Xuan Li, Xin Tang
Purpose: Adenoid cystic carcinoma (ACC) in the lacrimal gland is a rare malignancy. P16 is encoded by the CDKN2A gene, which is recognized as a tumor suppressor due to its inactivation in many types of tumors. However, p16 overexpression is also linked to adverse tumor parameters. These contradictory observations have also been confirmed in ACCs in the salivary glands. Furthermore, evidence of human papilloma virus (HPV) infection is found in a proportion of ACCs in the salivary glands...
2018: Molecular Vision
Ye Lu, Diana Zhou, Rebecca King, Shuang Zhu, Claire L Simpson, Byron C Jones, Wenbo Zhang, Eldon E Geisert, Lu Lu
Purpose: Usher syndrome (US) is characterized by a loss of vision due to retinitis pigmentosa (RP) and deafness. US has three clinical subtypes, but even within each subtype, the severity varies. Myosin VIIA, coded by Myo7a, has been identified as one of the causal genes of US. This study aims to identify pathways and other genes through which Myo7a interacts to affect the presentation of US symptoms. Methods: In this study, we used the retinal tissue of BXD recombinant inbred (RI) mice to examine the expression of Myo7a and perform genetic mapping...
2018: Molecular Vision
Rupal L Shah, Qing Li, Wanting Zhao, Milly S Tedja, J Willem L Tideman, Anthony P Khawaja, Qiao Fan, Seyhan Yazar, Katie M Williams, Virginie J M Verhoeven, Jing Xie, Ya Xing Wang, Moritz Hess, Stefan Nickels, Karl J Lackner, Olavi Pärssinen, Juho Wedenoja, Ginevra Biino, Maria Pina Concas, André Uitterlinden, Fernando Rivadeneira, Vincent W V Jaddoe, Pirro G Hysi, Xueling Sim, Nicholas Tan, Yih-Chung Tham, Sonoko Sensaki, Albert Hofman, Johannes R Vingerling, Jost B Jonas, Paul Mitchell, Christopher J Hammond, René Höhn, Paul N Baird, Tien-Yin Wong, Chinfsg-Yu Cheng, Yik Ying Teo, David A Mackey, Cathy Williams, Seang-Mei Saw, Caroline C W Klaver, Jeremy A Guggenheim, Joan E Bailey-Wilson
Purpose: To identify genes and genetic markers associated with corneal astigmatism. Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software...
2018: Molecular Vision
Salvador López-Rubio, Oscar F Chacon-Camacho, Rodrigo Matsui, Dalia Guadarrama-Vallejo, Mirena C Astiazarán, Juan C Zenteno
Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4. Methods: Ten patients carrying the p.Ala1773Val mutation, nine of them homozygously, were included. Visual function studies included best-corrected visual acuity, electroretinography, Goldmann kinetic visual fields, and full-field electroretinography (ERG). In addition, imaging studies, such as optical coherence tomography (OCT), short-wave autofluorescence imaging, and quantitative analyses of hypofluorescence, were performed in each patient...
2018: Molecular Vision
Naiya B Patel, Jorge A Hinojosa, Meifang Zhu, Danielle M Robertson
Purpose: We have previously shown that invasive strains of Pseudomonas aeruginosa exploit the robust neutrophil response to form biofilms on contact lens surfaces and invade the corneal epithelium. The present study investigated the ability of multiple bacterial genera, all commonly recovered during contact lens-related infectious events, to adhere to and form biofilms on contact lens surfaces in the presence of neutrophils. Methods: Five reference strains from the American Type Culture Collection were used: P...
2018: Molecular Vision
Zhenzhen Yan, Haihong Shi, Rongrong Zhu, Lele Li, Bai Qin, Lihua Kang, Hui Chen, Huaijin Guan
Purpose: Age-related macular degeneration (AMD) is the leading cause of central visual loss among patients over the age of 55 years worldwide. Neovascular-type AMD (nAMD) accounts for approximately 10% of patients with AMD and is characterized by choroidal neovascularization (CNV). The proliferation of choroidal endothelial cells (CECs) is one important step in the formation of new vessels. Transcriptional coactivator Yes-associated protein (YAP) can promote the proliferation of multiple cancer cells, corneal endothelial cells, and vascular smooth muscle cells, which participate in angiogenesis...
2018: Molecular Vision
Samaneh Davoudi, Victoria S Chang, Daniel Navarro-Gomez, Lynn K Stanwyck, Damla Duriye Sevgi, Evangelia Papavasileiou, Aiai Ren, Eduardo Uchiyama, Lynn Sullivan, Ann-Marie Lobo, George N Papaliodis, Lucia Sobrin
Purpose: Uveitis occurs in a subset of patients with sarcoidosis. The purpose of this study was to determine whether genetic variants that have been associated previously with overall sarcoidosis are associated with increased risk of developing uveitis. Methods: Seventy-seven subjects were enrolled, including 45 patients diagnosed with sarcoidosis-related uveitis as cases and 32 patients with systemic sarcoidosis without ocular involvement as controls. Thirty-eight single nucleotide polymorphisms (SNPs) previously associated with sarcoidosis, sarcoidosis severity, or other organ-specific sarcoidosis involvement were identified...
2018: Molecular Vision
Carmen Haro, Mary Luz Uribe, Cristina Quereda, Jesús Cruces, José Martín-Nieto
Purpose: Dystroglycanopathies are a heterogeneous group of recessive neuromuscular dystrophies that affect the muscle, brain and retina, and are caused by deficiencies in the O-glycosylation of α-dystroglycan. This post-translational modification is essential for the formation and maintenance of ribbon synapses in the retina. Fukutin and fukutin-related protein (FKRP) are two glycosyltransferases whose deficiency is associated with severe dystroglycanopathies. These enzymes carry out in vitro the addition of a tandem ribitol 5-phosphate moiety to the so-called core M3 phosphotrisaccharide of α-dystroglycan...
2018: Molecular Vision
Maartje J Geerlings, Eveline Kersten, Joannes M M Groenewoud, Lars G Fritsche, Carel B Hoyng, Eiko K de Jong, Anneke I den Hollander
Purpose: A recent genome-wide association study by the International Age-related Macular Degeneration Genomics Consortium (IAMDGC) identified seven rare variants that are individually associated with age-related macular degeneration (AMD), the most common cause of vision loss in the elderly. In literature, several of these rare variants have been reported with different frequencies and odds ratios across populations of Europe and North America. Here, we aim to describe the representation of these seven AMD-associated rare variants in different geographic regions based on 24 AMD studies...
2018: Molecular Vision
Wen-Tao Deng, Jie Li, Ping Zhu, Vince A Chiodo, W Clay Smith, Beau Freedman, Wolfgang Baehr, Jijing Pang, William W Hauswirth
Purpose: Blue cone monochromacy (BCM) is an X-linked congenital vision disorder characterized by complete loss or severely reduced L- and M-cone function. Patients with BCM display poor visual acuity, severely impaired color discrimination, myopia, nystagmus, and minimally detectable cone-mediated electroretinogram. Recent studies of patients with BCM with adaptive optics scanning laser ophthalmoscopy (AOSLO) showed that they have a disrupted cone mosaic with reduced numbers of cones in the fovea that is normally dominated by L- and M-cones...
2018: Molecular Vision
Marion Schroeder, Ulrika Kjellström
Purpose: To assess retinal function in combination with the retinal structure in ABCA4-associated retinal degenerations. Moreover, to evaluate the possibility of predicting the natural course of these disorders. Methods: 34 patients with Stargardt disease or cone rod dystrophy carrying confirmed mutations in ABCA4 were selected from our retinitis pigmentosa (RP) register. Sequence analysis of the entire coding region of the ABCA4 gene was performed. The patients were subdivided into three groups based on their most recent visual fields...
2018: Molecular Vision
Anthony M Musolf, Claire L Simpson, Kyle A Long, Bilal A Moiz, Deyana D Lewis, Candace D Middlebrooks, Laura Portas, Federico Murgia, Elise B Ciner, Joan E Bailey-Wilson, Dwight Stambolian
Purpose: To determine genetic linkage between myopia and Han Chinese patients with a family history of the disease. Methods: One hundred seventy-six Han Chinese patients from 34 extended families were given eye examinations, and mean spherical equivalent (MSE) in diopters (D) was calculated by adding the spherical component of the refraction to one-half the cylindrical component and taking the average of both eyes. The MSE was converted to a binary phenotype, where all patients with an MSE of -1...
2018: Molecular Vision
Jiali Li, Qingjiong Zhang
Myopia is the most common cause of visual impairment worldwide. Genetic and environmental factors contribute to the development of myopia. Studies on the molecular genetics of myopia are well established and have implicated the important role of genetic factors. With linkage analysis, association studies, sequencing analysis, and experimental myopia studies, many of the loci and genes associated with myopia have been identified. Thus far, there has been no systemic review of the loci and genes related to non-syndromic and syndromic myopia based on the different approaches...
2017: Molecular Vision
Xiaojun Yang, Jinling Fu, Xiangyun Wei
Purpose: Daily modulation of gene expression is critical for the circadian rhythms of many organisms. One of the modulating mechanisms is based on nocturnin, a deadenylase that degrades mRNA in a circadian fashion. The nocturnin genes are expressed broadly, but their tissue expression patterns differ between mice and the frog Xenopus laevis; this difference suggests that the extent of the regulation of nocturin gene expression varies among species. In this study, we set out to characterize the expression patterns of two zebrafish nocturnin genes; in addition, we asked whether a frog nocturnin promoter has transcriptional activity in zebrafish...
2017: Molecular Vision
Kun Moon, Hyun-Gyo Lee, Won-Ki Baek, Youngkyun Lee, Kwang Soo Kim, Jong Hwa Jun, Jae-Young Kim, Choun-Ki Joo
Purpose: Nuclear factor kappa B (NF-κB) plays an important role in the epithelial-mesenchymal transition (EMT) of RPE cells. We investigated the effects of a proteasome inhibitor, bortezomib, on the EMT in RPE cells. In addition, we assessed the influence of bortezomib on regulation of the NF-κB pathway during this process. Methods: After treatment with various concentrations of bortezomib, cell viability was analyzed with the water-soluble tetrazolium salt-8 assay, cell-cycle regulation was evaluated with flow cytometry, and cell migration was monitored with in vitro wound healing and Transwell migration assays...
2017: Molecular Vision
Jie Xu, Dan Li, Tianyu Zheng, Yi Lu
Purpose: To evaluate the changes in β-amyloid (Aβ) expression in age-related cataract (ARC) lens epithelia and the effect of Aβ on oxidative damage in human lens epithelial cells (HLECs). Methods: Specimens of lens epithelia and aqueous humor were obtained from 255 cataract surgery patients and 48 healthy donor eyes. The ARC samples were divided into four groups according to the Lens Opacities Classification System III, with increasing severity from Group I to Group IV...
2017: Molecular Vision
Wenjuan Wan, Dongmei Cui, Klaus Trier, Junwen Zeng
Purpose: To evaluate the effects of 7-methylxanthine (7-MX) on the growth of human retinal pigment epithelium (RPE) cells and to observe the changes in the expression of adenosine receptors (ADORs) in RPE cells upon 7-MX treatment. Methods: Human RPE cells (monolayer at about 80% confluence) were cultured in vitro in the presence or absence of 7-MX. Cell proliferation was evaluated with 3-(4,5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide (MTT) assay. The cell cycle distribution and apoptosis level were analyzed with flow cytometry...
2017: Molecular Vision
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