journal
MENU ▼
Read by QxMD icon Read
search

Molecular Vision

journal
https://www.readbyqxmd.com/read/29033534/multicellular-tumor-spheroids-of-human-uveal-melanoma-induce-genes-associated-with-anoikis-resistance-lipogenesis-and-ssxs
#1
Charlotte Ness, Øystein Garred, Nils A Eide, Theresa Kumar, Ole K Olstad, Thomas P Bærland, Goran Petrovski, Morten C Moe, Agate Noer
PURPOSE: Uveal melanoma (UM) has a high propensity for metastatic spread, and approximately 40-50% of patients die of metastatic disease. Metastases can be found at the time of diagnosis but also several years after the tumor has been removed. The survival of disseminated cancer cells is known to be linked to anchorage independence, anoikis resistance, and an adaptive cellular metabolism. The cultivation of cancer cells as multicellular tumor spheroids (MCTS) by anchorage-independent growth enriches for a more aggressive phenotype...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28966549/myopia-induced-by-flickering-light-in-guinea-pig-eyes-is-associated-with-increased-rather-than-decreased-dopamine-release
#2
Xiumei Luo, Bing Li, Tao Li, Yue Di, Changyue Zheng, Shunmei Ji, Yuanyuan Ma, Jie Zhu, Xuefeng Chen, Xiaodong Zhou
PURPOSE: It is well known that the dopaminergic signaling pathway plays a pivotal role in the control of axial elongation. Much research has shown that retinal dopamine (DA) is decreased in experimental myopia, but the exact alteration in DA quantity underlying the myopia model induced by flickering light (FL) has not yet been fully elucidated. Therefore, in this study, we first attempted to prove the feasibility of the myopia model induced by FL and then to determine whether and how DA and its receptors changed in myopia induced by FL...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28966548/genome-wide-linkage-and-association-analysis-of-primary-open-angle-glaucoma-endophenotypes-in-the-norfolk-island-isolate
#3
Elizabeth Matovinovic, Pik Fang Kho, Rodney A Lea, Miles C Benton, David A Eccles, Larisa M Haupt, Alex W Hewitt, Justin C Sherwin, David A Mackey, Lyn R Griffiths
PURPOSE: Primary open-angle glaucoma (POAG) refers to a group of heterogeneous diseases involving optic nerve damage. Two well-established risk factors for POAG are elevated intraocular pressure (IOP) and a thinner central corneal thickness (CCT). These endophenotypes exhibit a high degree of heritability across populations. Large-scale genome-wide association studies (GWASs) of outbred populations have robustly implicated several susceptibility gene variants for both IOP and CCT. Despite this progress, a substantial amount of genetic variance remains unexplained...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28966547/diagnostic-application-of-clinical-exome-sequencing-in-leber-congenital-amaurosis
#4
Jinu Han, John Hoon Rim, In Sik Hwang, Jieun Kim, Saeam Shin, Seung-Tae Lee, Jong Rak Choi
PURPOSE: Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS: A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targets 4,813 clinically associated genes, followed by confirmation using Sanger sequencing...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28943754/pinus-densiflora-bark-extract-prevents-selenite-induced-cataract-formation-in-the-lens-of-sprague-dawley-rat-pups
#5
Jun Kim, Se-Young Choung
PURPOSE: Rat pups treated with sodium selenite are typically used as an in vivo model to mimic age-related nuclear cataract. Reactive oxygen species (ROS) production, lipid peroxidation, reduction of antioxidant enzymes, crystalline proteolysis, and apoptosis are considered factors that contribute to pathogenesis of age-related nuclear cataract. In the present study, we investigated whether Pinus densiflora bark extract has potential to prevent cataract formation and elucidated the underlying mechanism...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28928627/a-novel-truncation-mutation-in-crybb1-associated-with-autosomal-dominant-congenital-cataract-with-nystagmus
#6
Yan Rao, Sufang Dong, Zuhua Li, Guohua Yang, Chunyan Peng, Ming Yan, Fang Zheng
PURPOSE: To identify the potential candidate genes for a large Chinese family with autosomal dominant congenital cataract (ADCC) and nystagmus, and investigate the possible molecular mechanism underlying the role of the candidate genes in cataractogenesis. METHODS: We combined the linkage analysis and direct sequencing for the candidate genes in the linkage regions to identify the causative mutation. The molecular and bio-functional properties of the proteins encoded by the candidate genes was further explored with biophysical and biochemical studies of the recombinant wild-type and mutant proteins...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28867932/a-dna-dot-hybridization-model-for-molecular-diagnosis-of-parasitic-keratitis
#7
Fu-Chin Huang, Hsin-Yi Hsieh, Tsung C Chang, Shu-Li Su, Shin-Ling Tseng, Yu-Hsuan Lai, Ming-Tse Kuo
PURPOSE: Developing a DNA dot hybridization model for diagnosing parasitic keratitis. METHODS: Newly designed oligonucleotide probes for detecting Acanthamoeba and microsporidia were tested with target reference strains of Acanthamoeba (n = 20) and microsporidia (n = 3), and non-target microorganisms, including bacteria (n = 20) and fungi (n = 20). These probes, which had passed the preliminary tests, were then assembled as a parasite dot hybridization (PDH) model for assessing 33 clinical samples from patients with clinically suspected Acanthamoeba and microsporidia keratitis, including eight positives for Acanthamoeba, 13 positives for microsporidia, and 12 negatives for both pathogens...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28867931/targeted-next-generation-sequencing-analysis-identifies-novel-mutations-in-families-with-severe-familial-exudative-vitreoretinopathy
#8
Xiao-Yan Huang, Hong Zhuang, Ji-Hong Wu, Jian-Kang Li, Fang-Yuan Hu, Yu Zheng, Laurent Christian Asker M Tellier, Sheng-Hai Zhang, Feng-Juan Gao, Jian-Guo Zhang, Ge-Zhi Xu
PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese families with a definitive diagnosis of FEVR. METHODS: To identify the causative gene, next-generation sequencing (NGS)-based target capture sequencing was performed...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28855795/reduction-in-ocular-complement-factor-b-protein-in-mice-and-monkeys-by-systemic-administration-of-factor-b-antisense-oligonucleotide
#9
Tamar R Grossman, Michele Carrer, Lijiang Shen, Robert B Johnson, Lisa A Hettrick, Scott P Henry, Brett P Monia, Michael L McCaleb
PURPOSE: Age-related macular degeneration (AMD) is the leading cause of permanent vision loss among the elderly in many industrialized countries, and the complement system plays an important role in the pathogenesis of AMD. Inhibition of complement factor B, a key regulator of the alternative pathway, is implicated as a potential therapeutic intervention for AMD. Here we investigated the effect of liver factor B reduction on systemic and ocular factor B levels. METHODS: Second-generation antisense oligonucleotides (ASOs) targeting mouse and monkey factor B mRNA were administered by subcutaneous injection to healthy mice or monkeys, and the level of factor B mRNA was assessed in the liver and the eye...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28848321/association-and-interaction-of-myopia-with-snp-markers-rs13382811-and-rs6469937-at-zfhx1b-and-sntb1-in-han-chinese-and-european-populations
#10
Jiali Li, Xiaodong Jiao, Qingjiong Zhang, J Fielding Hejtmancik
PURPOSE: Previously, a genome-wide association study (GWAS) identified rs13382811 (near ZFHX1B) and rs6469937 (near SNTB1) to be associated with high myopia. The present study evaluates the association of these two single nucleotide polymorphisms (SNPs) with moderate to high myopia in two Chinese cohorts and two cohorts of European populations. METHODS: Two Chinese university student cohorts, including one with 300 unrelated subjects with high myopia and 308 emmetropic controls from Guangzhou and a second with 96 unrelated individuals with moderate to high myopia and 96 emmetropic controls of Chaoshanese origin in Guangzhou, were enrolled in this study...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28848320/heparanase-mediates-vascular-endothelial-growth-factor-gene-transcription-in-high-glucose-human-retinal-microvascular-endothelial-cells
#11
Jie Hu, Jingwei Wang, Xuan Leng, Yijun Hu, Huangxuan Shen, Xin Song
PURPOSE: To observe the nuclear expression and interaction of heparanase and RNA polymerase II (RNA Pol II), an enzyme that catalyzes the transcription of DNA in eukaryotic cells) in human retinal microvascular endothelial cells (HRECs) under high glucose condition and to investigate the association of heparanase with the transcription activity of the vascular endothelial growth factor (VEGF) gene promoter. METHODS: Cultured HRECs were maintained for 3 days in media with high or normal glucose...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28848319/magnetic-resonance-imaging-study-of-eye-congenital-birth-defects-in-mouse-model
#12
Jing-Huei Lee, Zachary Tucker, Maureen Mongan, Qinghang Meng, Ying Xia
PURPOSE: Embryonic eyelid closure is a well-documented morphogenetic episode in mammalian eye development. Detection of eyelid closure defect in humans is a major challenge because eyelid closure and reopen occur entirely in utero. As a consequence, congenital eye defects that are associated with failure of embryonic eyelid closure remain unknown. To fill the gap, we developed a mouse model of defective eyelid closure. This preliminary work demonstrates that the magnetic resonance imaging (MRI) approach can be used for the detection of extraocular muscle abnormalities in the mouse model...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28848318/diagnostic-genetic-testing-for-patients-with-bilateral-optic-neuropathy-and-comparison-of-clinical-features-according-to-opa1-mutation-status
#13
Eric D Gaier, Katherine Boudreault, Isao Nakata, Maria Janessian, Philip Skidd, Elizabeth DelBono, Keri F Allen, Louis R Pasquale, Emily Place, Dean M Cestari, Rebecca C Stacy, Joseph F Rizzo, Janey L Wiggs
PURPOSE: Inherited optic neuropathy is genetically heterogeneous, and genetic testing has an important role in risk assessment and counseling. The purpose of this study is to determine the prevalence and spectrum of mutations in a group of patients referred for genetic testing to a tertiary center in the United States. In addition, we compared the clinical features of patients with and without mutations in OPA1, the gene most commonly involved in dominantly inherited optic atrophy. METHODS: Clinical data and genetic testing results were reviewed for 74 unrelated, consecutive patients referred with a history of insidious, relatively symmetric, bilateral visual loss secondary to an optic neuropathy...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28761327/expression-and-role-of-interleukin-9-in-vogt-koyanagi-harada-disease
#14
Zhixi Peng, Shaoqiu Jiang, Mingxing Wu, Xiyuan Zhou, Qian Wang
PURPOSE: Vogt-Koyanagi-Harada (VKH) disease is a systemic autoimmune disease that can lead to blindness. This study was designed to investigate whether interleukin (IL)-9 plays a role in the development of VKH disease. METHODS: IL-9, IL-17, and interferon (IFN)-γ levels, present in the supernatants of cultured peripheral blood mononuclear cells (PBMCs) and CD4+T cells, were assessed with enzyme-linked immunosorbent assay. IL-9 mRNA expression in PBMCs was measured with real-time quantitative PCR...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28761326/concentrations-of-muc16-and-muc5ac-using-three-tear-collection-methods
#15
Anna F Ablamowicz, Jason J Nichols
PURPOSE: To determine the optimal tear collection method for analysis of ocular surface mucins MUC5AC and MUC16. METHODS: Fifteen subjects without ocular surface disease were recruited. Subjects presented for tear collection on three separate days for three different tear collection methods with the order of method randomized. Methods used to collect tears from right and left eyes included Schirmer's strip, basal tear collection, and flush tear collection. All samples from the right eyes were individually analyzed for MUC5AC whereas the left eye samples were individually analyzed for MUC16...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28761325/taxifolin-protects-rpe-cells-against-oxidative-stress-induced-apoptosis
#16
Xiaobin Xie, Jun Feng, Zefeng Kang, Shoukang Zhang, Lixia Zhang, Yan Zhang, Xuefei Li, Youzhi Tang
PURPOSE: Oxidative stress-induced damage to RPE cells has been suggested to be an important factor in the pathogenesis of age-related macular degeneration. Taxifolin, a flavonol, has been shown to exhibit significant antioxidant properties. The purpose of this study was to investigate the potential protective effects of taxifolin on RPE cells cultured under oxidative stress conditions and to elucidate the underlying mechanisms. METHODS: Human RPE (ARPE-19) cells were treated with different concentrations of taxifolin and 0...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28761324/arms2-variants-may-predict-the-3-year-outcome-of-photodynamic-therapy-for-wet-age-related-macular-degeneration
#17
Shunichiro Nakai, Shigeru Honda, Wataru Matsumiya, Akiko Miki, Makoto Nakamura
PURPOSE: To determine the association of age-related maculopathy susceptibility2 (ARMS2) gene polymorphisms with the 3-year outcomes of photodynamic therapy (PDT) in wet age-related macular degeneration (wet AMD). METHODS: The single nucleotide polymorphism (SNP) at rs10490924 in the ARMS2 gene of 65 patients with wet AMD who underwent PDT was genotyped using the TaqMan assay. The clinical characteristics and the outcomes of PDT were compared among the three genotypes at rs10490924...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28761323/the-comparative-safety-of-genipin-versus-uva-riboflavin-crosslinking-of-rabbit-corneas
#18
Wenjing Song, Yun Tang, Jing Qiao, Haili Li, Bei Rong, Songlin Yang, Yuan Wu, Xiaoming Yan
PURPOSE: To investigate, after 24 h, the safety of genipin or ultraviolet A (UVA)-riboflavin crosslinking of keratocytes and endothelial cells. METHODS: Fifteen New Zealand white rabbits were selected and divided into a PBS group (five rabbits), a 0.2% genipin crosslinking (GP-CXL) group (five rabbits), and a UVA-riboflavin crosslinking (UVA-CXL) group (five rabbits). In the GP-CXL and PBS groups, 0.2% genipin or PBS was applied to the corneal surface of the right eyes...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28761322/optimization-of-a-genotyping-screening-based-on-hydrolysis-probes-to-detect-the-main-mutations-related-to-leber-hereditary-optic-neuropathy-lhon
#19
Fábio Tadeu Arrojo Martins, Paulo Maurício do Amor Divino Miranda, Marcela Scabello Amaral Fernandes, Andréa Trevas Maciel-Guerra, Edi Lúcia Sartorato
PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial inherited disease characterized by bilateral vision problems, such as reduced visual acuity, dyschromatopsia, and central or centrocecal scotoma. Of these cases, 95% are caused by three mutations in mitochondrial DNA (mtDNA): m.G11778A, followed by m.T14484C and m.G3460A. The remaining 5% of cases of LHON are caused by rare mutations also present in mtDNA. Although conventional molecular tools for molecular screening of LHON are becoming popular, in most cases these tools are still expensive and time-consuming and are difficult to reproduce...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28761321/sequence-variants-in-four-genes-underlying-bardet-biedl-syndrome-in-consanguineous-families
#20
Asmat Ullah, Muhammad Umair, Maryam Yousaf, Sher Alam Khan, Muhammad Nazim-Ud-Din, Khadim Shah, Farooq Ahmad, Zahid Azeem, Ghazanfar Ali, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B Haack, Tim M Strom, Thomas Meitinger, Tahseen Ghous, Wasim Ahmad
PURPOSE: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. METHODS: Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis. RESULTS: Sanger sequencing revealed two novel mutations and three previously reported mutations in the BBS genes...
2017: Molecular Vision
journal
journal
32486
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"