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https://www.readbyqxmd.com/read/29785634/a-cluster-of-five-genes-essential-for-the-utilization-of-dihydroxamate-xenosiderophores-in-synechocystis-sp-pcc-6803
#1
Tobias A Obando S, Michael M Babykin, Vladislav V Zinchenko
The unicellular freshwater cyanobacterium Synechocystis sp. PCC 6803 is capable of using dihydroxamate xenosiderophores, either ferric schizokinen (FeSK) or a siderophore of the filamentous cyanobacterium Anabaena variabilis ATCC 29413 (SAV), as the sole source of iron in the TonB-dependent manner. The fecCDEB1-schT gene cluster encoding a siderophore transport system that is involved in the utilization of FeSK and SAV in Synechocystis sp. PCC 6803 was identified. The gene schT encodes TonB-dependent outer membrane transporter, whereas the remaining four genes encode the ABC-type transporter FecB1CDE formed by the periplasmic binding protein FecB1, the transmembrane permease proteins FecC and FecD, and the ATPase FecE...
May 21, 2018: Current Microbiology
https://www.readbyqxmd.com/read/29781926/repeatability-and-intersession-reproducibility-of-pentacam-corneal-thickness-maps-in-fuchs-dystrophy-and-endothelial-keratoplasty
#2
David Mingo-Botín, Francisco Arnalich-Montiel, Ana Couceiro de Juan, Sara Ortiz-Toquero
PURPOSE: To assess intrasession repeatability and intersession reproducibility of Pentacam corneal thickness maps in patients with Fuchs endothelial corneal dystrophy (FECD) before and after endothelial transplantation. METHODS: In this observational diagnostic evaluation, 20 healthy subjects along with 81 consecutive patients were examined. Patients were classified into 4 groups: FECD without corneal edema, FECD with corneal edema, Descemet stripping automated endothelial keratoplasty, and Descemet membrane endothelial keratoplasty...
May 16, 2018: Cornea
https://www.readbyqxmd.com/read/29698634/function-related-protein-expression-in-fuchs-endothelial-corneal-dystrophy-cells-and-tissue-models
#3
Mathieu Thériault, Sébastien P Gendron, Isabelle Brunette, Patrick J Rochette, Stéphanie Proulx
Fuchs endothelial corneal dystrophy (FECD) is a corneal pathology that affects the endothelial cell ability to maintain deturgescence, resulting in a progressive loss of corneal transparency. In this study, we investigated the expression of function-related proteins in corneal endothelial cells using FECD or healthy corneal endothelial cells, either in a cell culture 2D model or in an engineered corneal endothelium 3D tissue model. No statistically significant difference in gene regulation was observed for the function-related families ATP1, SLC4, SLC16, AQP, TJP, and CDH between the FECD and the healthy cell models...
April 23, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29677349/repeat-associated-non-atg-ran-translation-in-fuchs-endothelial-corneal-dystrophy
#4
Elisabetta Soragni, Lina Petrosyan, Tommy A Rinkoski, Eric D Wieben, Keith H Baratz, Michael P Fautsch, Joel M Gottesfeld
Purpose: The strongest genetic association with Fuchs' endothelial corneal dystrophy (FECD) is the presence of an intronic (CTG·CAG)n trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene. Repeat-associated non-ATG (RAN) translation, an unconventional protein translation mechanism that does not require an initiating ATG, has been described in many TNR expansion diseases, including myotonic dystrophy type 1 (DM1). Given the similarities between DM1 and FECD, we wished to determine whether RAN translation occurs in FECD...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29610297/intron-retention-induced-by-microsatellite-expansions-as-a-disease-biomarker
#5
Łukasz J Sznajder, James D Thomas, Ellie M Carrell, Tammy Reid, Karen N McFarland, John D Cleary, Ruan Oliveira, Curtis A Nutter, Kirti Bhatt, Krzysztof Sobczak, Tetsuo Ashizawa, Charles A Thornton, Laura P W Ranum, Maurice S Swanson
Expansions of simple sequence repeats, or microsatellites, have been linked to ∼30 neurological-neuromuscular diseases. While these expansions occur in coding and noncoding regions, microsatellite sequence and repeat length diversity is more prominent in introns with eight different trinucleotide to hexanucleotide repeats, causing hereditary diseases such as myotonic dystrophy type 2 (DM2), Fuchs endothelial corneal dystrophy (FECD), and C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD)...
April 2, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29559831/dj-1-in-ocular-diseases-a-review
#6
REVIEW
Cong Liu, Xiufen Liu, Jing Qi, Om Prakash Pant, Cheng-Wei Lu, Jilong Hao
Protein deglycase DJ-1 (Parkinson disease protein 7) is a 20 kDa protein encoded by PARK7 gene. It is also known as a redox-sensitive chaperone and sensor that protect cells against oxidative stress-induced cell death in many human diseases. Though increasing evidence implicates that DJ-1 may also participate in ocular diseases, the overview of DJ-1 in ocular diseases remains elusive. In this review, we discuss the role as well as the underlying molecular mechanisms of DJ-1 in ocular diseases, including Fuchs endothelial corneal dystrophy (FECD), age-related macular degeneration (AMD), cataracts, and ocular neurodegenerative diseases, highlighting that DJ-1 may serve as a very striking therapeutic target for ocular diseases...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29557816/outcomes-of-hemi-descemet-membrane-endothelial-keratoplasty-for-fuchs-endothelial-corneal-dystrophy
#7
Rénuka S Birbal, Shugi Hsien, Vasiliki Zygoura, Jack S Parker, Lisanne Ham, Korine van Dijk, Isabel Dapena, Lamis Baydoun, Gerrit R J Melles
PURPOSE: To report the mid-term outcomes of hemi-Descemet membrane endothelial keratoplasty (hemi-DMEK) performed for Fuchs endothelial corneal dystrophy (FECD). METHODS: In this prospective, interventional case series, we evaluated clinical outcomes of 10 eyes from 10 patients who underwent hemi-DMEK for FECD. Main outcome measures were best-corrected visual acuity (BCVA), endothelial cell density (ECD), central pachymetry, and postoperative complications. RESULTS: At 1 year postoperatively, 7/7 eyes (excluding 2 eyes with low visual potential) reached a BCVA of ≥20/40 (≥0...
March 19, 2018: Cornea
https://www.readbyqxmd.com/read/29526280/antisense-therapy-for-a-common-corneal-dystrophy-ameliorates-tcf4-repeat-expansion-mediated-toxicity
#8
Christina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, Pontus Klein, Petra Liskova, Kalyan Dulla, Ma'ayan Semo, Anthony A Vugler, Kirithika Muthusamy, Lubica Dudakova, Hannah J Levis, Pavlina Skalicka, Pirro Hysi, Michael E Cheetham, Stephen J Tuft, Peter Adamson, Alison J Hardcastle, Alice E Davidson
Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large cohort of affected individuals. An FECD subject-derived corneal endothelial cell (CEC) model was developed to probe disease mechanism and investigate therapeutic approaches. The CEC model demonstrated that the repeat expansion leads to nuclear RNA foci, with the sequestration of splicing factor proteins (MBNL1 and MBNL2) to the foci and altered mRNA processing...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29428794/supramolecular-cyclodextrin-based-metal-organic-framework-as-efficient-carriers-for-anti-inflammatory-drugs
#9
Marina P Abuçafy, Bruno L Caetano, Bruna G Chiari-Andréo, Bruno Fonseca-Santos, Aline M do Santos, Marlus Chorilli, Leila A Chiavacci
Drug delivery systems have been used to reduce adverse effects and improve the efficacy of therapies. Drug carriers have been developed over the years, but they have limitations. γ-cyclodextrin-based metal-organic frameworks (γ-CD-MOF) have significant advantages due to their biocompatibility and environmental safety, besides crystallinity and porosity. Herein, γ-CD-MOFs were synthesised with different metals as nodes and investigated. Uniform mesoporous γ-CD-MOFs were obtained and showed an absence of toxicity in HepG2 and Caco-2 cells...
February 8, 2018: European Journal of Pharmaceutics and Biopharmaceutics
https://www.readbyqxmd.com/read/29408827/corneal-optical-changes-associated-with-induced-edema-in-fuchs-endothelial-corneal-dystrophy
#10
Katrin Wacker, Jay W McLaren, Katrina M Kane, Sanjay V Patel
PURPOSE: Patients with Fuchs endothelial corneal dystrophy (FECD) often notice poor vision in the morning that improves as the day progresses. In this study, we determined changes in corneal optical properties associated with induced corneal edema. METHODS: Twenty-three phakic eyes (23 participants) with FECD (grades 1-6, modified Krachmer scale) and 8 normal eyes (8 participants) were examined by Scheimpflug photography. Central corneal thickness, high-order aberrations from anterior and posterior corneal surfaces, and backscatter from the anterior, mid-, and posterior cornea were determined from the Scheimpflug images...
March 2018: Cornea
https://www.readbyqxmd.com/read/29384811/accuracy-of-corneal-thickness-by-swept-source-optical-coherence-tomography-and-scheimpflug-camera-in-virgin-and-treated-fuchs-endothelial-dystrophy
#11
Francisco Arnalich-Montiel, Sara Ortiz-Toquero, Clara Auladell, Ana Couceiro
PURPOSE: To assess intraobserver repeatability, intersession reproducibility, and agreement of swept-source Fourier-domain optical coherence tomography (SS-OCT) and the Scheimpflug camera in measuring corneal thickness in virgin and grafted eyes with Fuchs endothelial corneal dystrophy (FECD). METHODS: Thirty-six control eyes, 35 FECD eyes, 30 FECD with corneal edema eyes, 25 Descemet stripping automated endothelial keratoplasty (DSAEK) eyes, and 29 Descemet membrane endothelial keratoplasty (DMEK) eyes were included...
January 30, 2018: Cornea
https://www.readbyqxmd.com/read/29384808/regenerative-therapy-for-fuchs-endothelial-corneal-dystrophy
#12
Yu Qiang Soh, Jodhbir S Mehta
PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is an acquired corneal endotheliopathy and is one of the most common indications for corneal transplantation surgery worldwide. Endothelial keratoplasty (EK) is the most popular form of corneal transplantation for FECD. In standard EK surgery, the patient's corneal endothelium and basement membrane [ie, Descemet membrane (DM)] are first removed, followed by transplantation of donor tissue that comprises allogenic corneal endothelial cells, DM, and corneal stroma of variable thickness...
April 2018: Cornea
https://www.readbyqxmd.com/read/29338061/feasibility-of-cell-based-therapy-combined-with-descemetorhexis-for-treating-fuchs-endothelial-corneal-dystrophy-in-rabbit-model
#13
Naoki Okumura, Daiki Matsumoto, Yuya Fukui, Masataka Teramoto, Hirofumi Imai, Tetta Kurosawa, Tomoki Shimada, Friedrich Kruse, Ursula Schlötzer-Schrehardt, Shigeru Kinoshita, Noriko Koizumi
Corneal transparency is maintained by the corneal endothelium through its pump and barrier function. Severe corneal endothelial damage results in dysregulation of water flow and eventually causes corneal haziness and deterioration of visual function. In 2013, we initiated clinical research of cell-based therapy for treating corneal decompensation. In that study, we removed an 8-mm diameter section of damaged corneal endothelium without removing Descemet's membrane (the basement membrane of the corneal endothelium) and then injected cultured human corneal endothelial cells (CECs) into the anterior chamber...
2018: PloS One
https://www.readbyqxmd.com/read/29327391/molecular-phenotype-of-slc4a11-missense-mutants-setting-the-stage-for-personalized-medicine-in-corneal-dystrophies
#14
Kumari Alka, Joseph R Casey
SLC4A11 mutations cause cases of congenital hereditary endothelial dystrophy (CHED), Harboyan syndrome (HS), and Fuchs endothelial corneal dystrophy (FECD). Defective water reabsorption from corneal stroma by corneal endothelial cells (CECs) leads to these corneal dystrophies. SLC4A11, in the CEC basolateral membrane, facilitates transmembrane movement of H2 O, NH3 , and H+ -equivalents. Some SLC4A11 disease mutants have impaired folding, leading to a failure to move to the cell surface, which in some cases can be corrected by the drug, glafenine...
January 11, 2018: Human Mutation
https://www.readbyqxmd.com/read/29325021/oligonucleotides-targeting-tcf4-triplet-repeat-expansion-inhibit-rna-foci-and-mis-splicing-in-fuchs-dystrophy
#15
Jiaxin Hu, Ziye Rong, Xin Gong, Zhengyang Zhou, Vivek K Sharma, Chao Xing, Jonathan K Watts, David R Corey, V Vinod Mootha
Fuchs' endothelial corneal dystrophy (FECD) is the most common repeat expansion disorder. FECD impacts 4% of U.S. population and is the leading indication for corneal transplantation. Most cases are caused by an expanded intronic CUG tract in the TCF4 gene that forms nuclear foci, sequesters splicing factors and impairs splicing. We investigated the sense and antisense RNA landscape at the FECD gene and find that the sense-expanded repeat transcript is the predominant species in patient corneas. In patient tissue, sense foci number were negatively correlated with age and showed no correlation with sex...
March 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29209447/nrf2-a-potential-therapeutic-target-against-oxidative-stress-in-corneal-diseases
#16
REVIEW
Xiu-Fen Liu, Dan-Dan Zhou, Tian Xie, Tayyab Hamid Malik, Cheng-Bo Lu, Hai-Jun Li, Fan Wang, Chang Shu, Cong Liu, Cheng-Wei Lu, Ji-Long Hao
Corneal diseases are one of the major causes of blindness worldwide. Conservative medical agents, which may prevent sight-threatening corneal disease progression, are urgently desired. Numerous evidences have revealed the involvement of oxidative stress in various corneal diseases, such as corneal wound healing and Fuchs endothelial corneal dystrophy (FECD). Nuclear factor (erythroid-derived 2)-like 2 (Nrf2)/Kelch-like erythroid-cell-derived protein with CNC homology- (ECH-) associated protein 1 (Keap1)/antioxidant response element (ARE) signaling is well known as one of the main antioxidative defense systems...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29044056/association-of-polymorphisms-in-the-intron-of-tcf4-gene-to-late-onset-fuchs-endothelial-corneal-dystrophy-an-indian-cohort-study
#17
Bhavna S Rao, Arokiasamy Tharigopala, Sudhir R Rachapalli, Rama Rajagopal, Nagasamy Soumittra
PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is a progressive degenerative disease of the corneal endothelium. It is genetically heterogeneous and follows either an autosomal dominant or sporadic pattern of inheritance. Here, we have explored the association of four previously reported intronic single nucleotide polymorphisms and intronic CTG repeat expansions in TCF4 gene to FECD in an Indian cohort. METHODS: The cohort consisting of 52 sporadic late-onset cases, 5 early-onset cases, and 148 controls was taken for the study...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28886202/fuchs-endothelial-corneal-dystrophy-and-rna-foci-in-patients-with-myotonic-dystrophy
#18
V Vinod Mootha, Brock Hansen, Ziye Rong, Pradeep P Mammen, Zhengyang Zhou, Chao Xing, Xin Gong
Purpose: The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DMPK. In this study, we examine for RNA-MBNL1 foci in endothelial cells of FECD subjects with DM1, test the hypothesis that DM1 patients are at risk for FECD, and determine prevalence of TCF4 and DMPK expansions in a FECD cohort...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28832669/tgc-repeat-expansion-in-the-tcf4-gene-increases-the-risk-of-fuchs-endothelial-corneal-dystrophy-in-australian-cases
#19
Abraham Kuot, Alex W Hewitt, Grant R Snibson, Emmanuelle Souzeau, Richard Mills, Jamie E Craig, Kathryn P Burdon, Shiwani Sharma
Fuchs' endothelial corneal dystrophy (FECD) is a progressive, vision impairing disease. Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 gene have been associated with the risk of FECD in some populations. We previously reported association of SNPs in TCF4 with FECD risk in the Australian population. The aim of this study was to determine whether TGC repeat polymorphism in TCF4 is associated with FECD in the Australian population...
2017: PloS One
https://www.readbyqxmd.com/read/28754918/activation-of-tgf-%C3%AE-signaling-induces-cell-death-via-the-unfolded-protein-response-in-fuchs-endothelial-corneal-dystrophy
#20
Naoki Okumura, Keisuke Hashimoto, Miu Kitahara, Hirokazu Okuda, Emi Ueda, Kyoko Watanabe, Makiko Nakahara, Takahiko Sato, Shigeru Kinoshita, Theofilos Tourtas, Ursula Schlötzer-Schrehardt, Friedrich Kruse, Noriko Koizumi
Fuchs endothelial corneal dystrophy (FECD) is a slowly progressive bilateral disease of corneal endothelium in which accumulation of extracellular matrix (ECM) and loss of corneal endothelial cells (CECs) are phenotypic features. The corneal endothelium maintains corneal transparency by regulating water hydration; consequently, corneal endothelial dysfunction causes serious vision loss. The only therapy for corneal haziness due to corneal endothelial diseases, including FECD, is corneal transplantation using donor corneas, and no pharmaceutical treatment is available...
July 28, 2017: Scientific Reports
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