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Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.

Changyi Ji, Yao Li, Alec Kittredge, Austin Hopiavuori, Nancy Ward, Peng Yao, Yohta Fukuda, Yu Zhang, Stephen H Tsang, Tingting Yang,

BEST1 is a Ca2+-activated Cl- channel predominantly expressed in retinal pigment epithelium (RPE), and over 250 genetic mutations in the BEST1 gene have been identified to cause retinal degenerative disorders generally known as bestrophinopathies. As most BEST1 mutations are autosomal dominant, it is of great biomedical interest to determine their ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):19026]

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Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert's disease: A case of triple dystrophy.

Amparo Gargallo-Benedicto, Vicente Tomás Pérez-Torregrosa, Rodrigo Clemente-Tomás, Antonio Miguel Duch-Samper,

INTRODUCTION:A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert's myotonic dystrophy type 1 is described, and a literature review on the triple association is made. CASE DESCRIPTION:A 52-year-old male diagnosed with myotonic dystrophy type 1 presented ... Read more >>

Eur J Ophthalmol (European journal of ophthalmology)
[2019, :1120672119872374]

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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Riet De Rycke, Brecht Guillemyn, Sarah De Jaegere, Frauke Coppieters, Rudy Van Coster, Bart P Leroy, Elfride De Baere,

Biallelic MFSD8 variants are an established cause of severe late-infantile subtype of neuronal ceroid lipofuscinosis (v-LINCL), a severe lysosomal storage disorder, but have also been associated with nonsyndromic adult-onset maculopathy. Here, we functionally characterized two novel MFSD8 variants found in a child with juvenile isolated maculopathy, in order to establish ... Read more >>

Clin. Genet. (Clinical genetics)
[2020, 97(3):426-436]

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A CARE-compliant article: optical coherence tomography for epithelial basement membrane dystrophy: A case report.

Yi-Chun Kuo, Yuan-Chieh Lee,

RATIONALE:The etiology of anterior corneal opacities and the effect of debridement cannot be determined by biomicroscopy. Optical coherence tomography (OCT) helps identify the character and depth of these lesions. PATIENT CONCERNS:A 45-year-old female complained of progressive blurred vision for a long time. Slit lamp biomicroscopy showed irregular, faint scar-like opacity ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(13):e15032]

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Pachymetry-induced exacerbation of map-dot-fingerprint dystrophy.

Meera S Ramakrishnan, Robin A Vora, Ying Qian,

Am J Ophthalmol Case Rep (American journal of ophthalmology case reports)
[2018, 12:101-102]

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Dot2dot: accurate whole-genome tandem repeats discovery.

Loredana M Genovese, Marco M Mosca, Marco Pellegrini, Filippo Geraci,

MOTIVATION:Large-scale sequencing projects have confirmed the hypothesis that eukaryotic DNA is rich in repetitions whose functional role needs to be elucidated. In particular, tandem repeats (TRs) (i.e. short, almost identical sequences that lie adjacent to each other) have been associated to many cellular processes and, indeed, are also involved in ... Read more >>

Bioinformatics (Bioinformatics (Oxford, England))
[2019, 35(6):914-922]

Cited: 1 time

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RF/6A Chorioretinal Cells Do Not Display Key Endothelial Phenotypes.

Ryan D Makin, Ivana Apicella, Yosuke Nagasaka, Hiroki Kaneko, Stephen D Turner, Nagaraj Kerur, Jayakrishna Ambati, Bradley D Gelfand,

Purpose:The misuse of inauthentic cell lines is widely recognized as a major threat to the integrity of biomedical science. Whereas the majority of efforts to address this have focused on DNA profiling, we sought to anatomically, transcriptionally, and functionally authenticate the RF/6A chorioretinal cell line, which is widely used as ... Read more >>

Invest. Ophthalmol. Vis. Sci. (Investigative ophthalmology & visual science)
[2018, 59(15):5795-5802]

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Recurrent corneal erosion: a comprehensive review.

Darby D Miller, Syed A Hasan, Nathaniel L Simmons, Michael W Stewart,

Purpose:To comprehensively review the literature regarding recurrent corneal erosion (RCE) and to present treatment options and recommendations for management. Overview:RCE usually presents with sharp, unilateral pain upon awakening, in an eye with an underlying basement membrane dystrophy, prior ocular trauma, stromal dystrophy or degeneration, or prior surgery for refractive errors, ... Read more >>

Clin Ophthalmol (Clinical Ophthalmology (Auckland, N.Z.))
[2019, 13:325-335]

Cited: 2 times

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Bernt Popp, Mandy Krumbiegel, Janina Grosch, Annika Sommer, Steffen Uebe, Zacharias Kohl, Sonja Plötz, Michaela Farrell, Udo Trautmann, Cornelia Kraus, Arif B Ekici, Reza Asadollahi, Martin Regensburger, Katharina Günther, Anita Rauch, Frank Edenhofer, Jürgen Winkler, Beate Winner, André Reis,

Genetic integrity of induced pluripotent stem cells (iPSCs) is essential for their validity as disease models and for potential therapeutic use. We describe the comprehensive analysis in the ForIPS consortium: an iPSC collection from donors with neurological diseases and healthy controls. Characterization included pluripotency confirmation, fingerprinting, conventional and molecular karyotyping ... Read more >>

Sci Rep (Scientific reports)
[2018, 8(1):17201]

Cited: 3 times

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Physiological and pathological skeletal muscle T1 changes quantified using a fast inversion-recovery radial NMR imaging sequence.

Benjamin Marty, Pierre G Carlier,

We investigated the response of skeletal muscle global T1 under different physiological and pathological conditions using an inversion-recovery radial T1 mapping sequence. Thirty five healthy volunteers, seven patients with Becker muscular dystrophy (BMD) and seven patients with sporadic inclusion body myositis (IBM) were investigated in order to evaluate the effects ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):6852]

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Alcohol delamination of the corneal epithelium for recurrent corneal erosion syndrome.

Áine Ní Mhéalóid, Taylor Lukasik, William Power, Conor C Murphy,

To evaluate the outcomes of alcohol delamination (ALD) of the corneal epithelium for the treatment of recurrent corneal erosion syndrome (RCES) and to implement a standardized treatment protocol for this condition utilizing evidence based practice and the findings of an internal audit.A retrospective analysis of 42 eyes of 40 patients ... Read more >>

Int J Ophthalmol (International journal of ophthalmology)
[2018, 11(7):1129-1131]

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Management of Pseudophakic Malignant Glaucoma in Sunset Syndrome: A Case Report and Literature Review.

Ioannis-Nikolaos Chalkias, Efthymios Chalkias, Anastasios Halkias,

To present an interesting case of pseudophakic malignant glaucoma in sunset syndrome, which potentially points to a correlation between a posterior chamber intraocular lens (PCIOL) subluxation and development of aqueous misdirection. Furthermore, we underlined the effectiveness of YAG-laser hyaloidotomy as a first line treatment for malignant glaucoma. This is a ... Read more >>

Med Hypothesis Discov Innov Ophthalmol (Medical hypothesis, discovery & innovation ophthalmology journal)
[2019, 8(2):92-95]

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ATP activates bestrophin ion channels through direct interaction.

Yu Zhang, Alec Kittredge, Nancy Ward, Changyi Ji, Shoudeng Chen, Tingting Yang,

Human Bestrophin1 (hBest1) is a Ca2+-activated Cl- channel in retinal pigment epithelium (RPE) essential for retina physiology, and its mutation results in retinal degenerative diseases that have no available treatments. Here, we discover that hBest1's channel activity in human RPE is significantly enhanced by adenosine triphosphate (ATP) in a dose-dependent ... Read more >>

Nat Commun (Nature communications)
[2018, 9(1):3126]

Cited: 5 times

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Characterization of Contractile Proteins from Skeletal Muscle Using Gel-Based Top-Down Proteomics.

Paul Dowling, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck,

The mass spectrometric analysis of skeletal muscle proteins has used both peptide-centric and protein-focused approaches. The term 'top-down proteomics' is often used in relation to studying purified proteoforms and their post-translational modifications. Two-dimensional gel electrophoresis, in combination with peptide generation for the identification and characterization of intact proteoforms being present ... Read more >>

Proteomes (Proteomes)
[2019, 7(2):]

Cited: 1 time

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Lifespan-increasing drug nordihydroguaiaretic acid inhibits p300 and activates autophagy.

Tugsan Tezil, Manish Chamoli, Che-Ping Ng, Roman P Simon, Victoria J Butler, Manfred Jung, Julie Andersen, Aimee W Kao, Eric Verdin,

Aging is characterized by the progressive loss of physiological function in all organisms. Remarkably, the aging process can be modulated by environmental modifications, including diet and small molecules. The natural compound nordihydroguaiaretic acid (NDGA) robustly increases lifespan in flies and mice, but its mechanism of action remains unclear. Here, we ... Read more >>

NPJ Aging Mech Dis (NPJ aging and mechanisms of disease)
[2019, 5:7]

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Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

Alexander Teumer, Yong Li, Sahar Ghasemi, Bram P Prins, Matthias Wuttke, Tobias Hermle, Ayush Giri, Karsten B Sieber, Chengxiang Qiu, Holger Kirsten, Adrienne Tin, Audrey Y Chu, Nisha Bansal, Mary F Feitosa, Lihua Wang, Jin-Fang Chai, Massimiliano Cocca, Christian Fuchsberger, Mathias Gorski, Anselm Hoppmann, Katrin Horn, Man Li, Jonathan Marten, Damia Noce, Teresa Nutile, Sanaz Sedaghat, Gardar Sveinbjornsson, Bamidele O Tayo, Peter J van der Most, Yizhe Xu, Zhi Yu, Lea Gerstner, Johan Ärnlöv, Stephan J L Bakker, Daniela Baptista, Mary L Biggs, Eric Boerwinkle, Hermann Brenner, Ralph Burkhardt, Robert J Carroll, Miao-Li Chee, Miao-Ling Chee, Mengmeng Chen, Ching-Yu Cheng, James P Cook, Josef Coresh, Tanguy Corre, John Danesh, Martin H de Borst, Alessandro De Grandi, Renée de Mutsert, Aiko P J de Vries, Frauke Degenhardt, Katalin Dittrich, Jasmin Divers, Kai-Uwe Eckardt, Georg Ehret, Karlhans Endlich, Janine F Felix, Oscar H Franco, Andre Franke, Barry I Freedman, Sandra Freitag-Wolf, Ron T Gansevoort, Vilmantas Giedraitis, Martin Gögele, Franziska Grundner-Culemann, Daniel F Gudbjartsson, Vilmundur Gudnason, Pavel Hamet, Tamara B Harris, Andrew A Hicks, Hilma Holm, Valencia Hui Xian Foo, Shih-Jen Hwang, M Arfan Ikram, Erik Ingelsson, Vincent W V Jaddoe, Johanna Jakobsdottir, Navya Shilpa Josyula, Bettina Jung, Mika Kähönen, Chiea-Chuen Khor, Wieland Kiess, Wolfgang Koenig, Antje Körner, Peter Kovacs, Holly Kramer, Bernhard K Krämer, Florian Kronenberg, Leslie A Lange, Carl D Langefeld, Jeannette Jen-Mai Lee, Terho Lehtimäki, Wolfgang Lieb, Su-Chi Lim, Lars Lind, Cecilia M Lindgren, Jianjun Liu, Markus Loeffler, Leo-Pekka Lyytikäinen, Anubha Mahajan, Joseph C Maranville, Deborah Mascalzoni, Barbara McMullen, Christa Meisinger, Thomas Meitinger, Kozeta Miliku, Dennis O Mook-Kanamori, Martina Müller-Nurasyid, Josyf C Mychaleckyj, Matthias Nauck, Kjell Nikus, Boting Ning, Raymond Noordam, Jeffrey O' Connell, Isleifur Olafsson, Nicholette D Palmer, Annette Peters, Anna I Podgornaia, Belen Ponte, Tanja Poulain, Peter P Pramstaller, Ton J Rabelink, Laura M Raffield, Dermot F Reilly, Rainer Rettig, Myriam Rheinberger, Kenneth M Rice, Fernando Rivadeneira, Heiko Runz, Kathleen A Ryan, Charumathi Sabanayagam, Kai-Uwe Saum, Ben Schöttker, Christian M Shaffer, Yuan Shi, Albert V Smith, Konstantin Strauch, Michael Stumvoll, Benjamin B Sun, Silke Szymczak, E-Shyong Tai, Nicholas Y Q Tan, Kent D Taylor, Andrej Teren, Yih-Chung Tham, Joachim Thiery, Chris H L Thio, Hauke Thomsen, Unnur Thorsteinsdottir, Anke Tönjes, Johanne Tremblay, André G Uitterlinden, Pim van der Harst, Niek Verweij, Suzanne Vogelezang, Uwe Völker, Melanie Waldenberger, Chaolong Wang, Otis D Wilson, Charlene Wong, Tien-Yin Wong, Qiong Yang, Masayuki Yasuda, Shreeram Akilesh, Murielle Bochud, Carsten A Böger, Olivier Devuyst, Todd L Edwards, Kevin Ho, Andrew P Morris, Afshin Parsa, Sarah A Pendergrass, Bruce M Psaty, Jerome I Rotter, Kari Stefansson, James G Wilson, Katalin Susztak, Harold Snieder, Iris M Heid, Markus Scholz, Adam S Butterworth, Adriana M Hung, Cristian Pattaro, Anna Köttgen,

Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we conduct trans-ethnic (n = 564,257) and European-ancestry specific meta-analyses of genome-wide association studies of UACR, including ancestry- and diabetes-specific analyses, and identify 68 UACR-associated ... Read more >>

Nat Commun (Nature communications)
[2019, 10(1):4130]

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Anti-Hexokinase 1 Antibody as a Novel Serum Biomarker of a Subgroup of Diabetic Macular Edema.

Tatsuya Yoshitake, Tomoaki Murakami, Shin Yoshitake, Kiyoshi Suzuma, Yoko Dodo, Masahiro Fujimoto, Shinji Ito, Akitaka Tsujikawa,

Diabetic retinopathy (DR) induces the breakdown of the blood-retinal barrier and promotes neuroinflammation, although autoimmune responses to sequestered retinal antigens remain poorly understood. In this study, we investigated the autoantibodies for retinal antigens in sera from diabetic macular edema (DME) patients. Screening by immunoblotting demonstrated that IgG from 7 of ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):4806]

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Longitudinal profiling of human blood transcriptome in healthy and lupus pregnancy.

Seunghee Hong, Romain Banchereau, Bat-Sheva L Maslow, Marta M Guerra, Jacob Cardenas, Jeanine Baisch, D Ware Branch, T Flint Porter, Allen Sawitzke, Carl A Laskin, Jill P Buyon, Joan Merrill, Lisa R Sammaritano, Michelle Petri, Elizabeth Gatewood, Alma-Martina Cepika, Marina Ohouo, Gerlinde Obermoser, Esperanza Anguiano, Tae Whan Kim, John Nulsen, Djamel Nehar-Belaid, Derek Blankenship, Jacob Turner, Jacques Banchereau, Jane E Salmon, Virginia Pascual,

Systemic lupus erythematosus carries an increased risk of pregnancy complications, including preeclampsia and fetal adverse outcomes. To identify the underlying molecular mechanisms, we longitudinally profiled the blood transcriptome of 92 lupus patients and 43 healthy women during pregnancy and postpartum and performed multicolor flow cytometry in a subset of them. ... Read more >>

J. Exp. Med. (The Journal of experimental medicine)
[2019, 216(5):1154-1169]

Cited: 2 times

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Verteporfin blocks Clusterin which is required for survival of gastric cancer stem cell by modulating HSP90 function.

Jixian Xiong, Shaoxiang Wang, Tie Chen, Xingsheng Shu, Xianming Mo, Gang Chang, Jia-Jie Chen, Chenyang Li, Hui Luo, Jiing-Dwan Lee,

Gastric cancer stem cell (GCSC) is implicated in gastric cancer relapse, metastasis and drug resistance. However, the key molecule(s) involved in GCSC survival and the targeting drugs are poorly understood. We discovered increased secreted clusterin (S-Clu) protein expression during the sphere-forming growth of GCSC via mass spectrometry. Overexpression of clusterin ... Read more >>

Int. J. Biol. Sci. (International journal of biological sciences)
[2019, 15(2):312-324]

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Informed consent in refractive surgery: in-person vs telemedicine approach.

Steven C Schallhorn, Stephen J Hannan, David Teenan, Martina Pelouskova, Julie M Schallhorn,

Purpose:The aim of this study was to compare the quality of consent process in refractive surgery between patients who had a preoperative consent discussion with the surgeon using a telemedicine approach and those who had a face-to-face discussion. Methods:Patients treated between January and December 2017 (8,184 laser vision correction [LVC] ... Read more >>

Clin Ophthalmol (Clinical Ophthalmology (Auckland, N.Z.))
[2018, 12:2459-2470]

Cited: 0 times

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Pregabalin Failed to Prevent Dry Eye Symptoms after Laser-Assisted in Situ Keratomileusis (LASIK) in a Randomized Pilot Study.

Anat Galor, Sneh Patel, Leslie R Small, Adriana Rodriguez, Michael J Venincasa, Stephen E Valido, William Feuer, Roy C Levitt, Constantine D Sarantopoulos, Elizabeth R Felix,

PURPOSE:Perioperative pregabalin administration has been found to reduce the risk of persistent pain after a variety of surgical procedures. However, this approach has not been tested in relation to eye surgery. As such, the purpose of this study was to evaluate whether perioperative pregabalin can reduce the presence of dry ... Read more >>

J Clin Med (Journal of clinical medicine)
[2019, 8(9):]

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The Amino Acid Composition of Quadruplex Binding Proteins Reveals a Shared Motif and Predicts New Potential Quadruplex Interactors.

Václav Brázda, Jiří Červeň, Martin Bartas, Nikol Mikysková, Jan Coufal, Petr Pečinka,

The importance of local DNA structures in the regulation of basic cellular processes is an emerging field of research. Amongst local non-B DNA structures, G-quadruplexes are perhaps the most well-characterized to date, and their presence has been demonstrated in many genomes, including that of humans. G-quadruplexes are selectively bound by ... Read more >>

Molecules (Molecules (Basel, Switzerland))
[2018, 23(9):]

Cited: 4 times

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Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells.

Jill M Haenfler, Geena Skariah, Caitlin M Rodriguez, Andre Monteiro da Rocha, Jack M Parent, Gary D Smith, Peter K Todd,

Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and autism. It results from expansion of a CGG nucleotide repeat in the 5' untranslated region (UTR) of FMR1. Large expansions elicit repeat and promoter hyper-methylation, heterochromatin formation, FMR1 transcriptional silencing and loss of the Fragile X ... Read more >>

Front Mol Neurosci (Frontiers in molecular neuroscience)
[2018, 11:282]

Cited: 7 times

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Emerging roles of macrosatellite repeats in genome organization and disease development.

Gabrijela Dumbovic, Sonia-V Forcales, Manuel Perucho,

Abundant repetitive DNA sequences are an enigmatic part of the human genome. Despite increasing evidence on the functionality of DNA repeats, their biologic role is still elusive and under frequent debate. Macrosatellites are the largest of the tandem DNA repeats, located on one or multiple chromosomes. The contribution of macrosatellites ... Read more >>

Epigenetics (Epigenetics)
[2017, 12(7):515-526]

Cited: 3 times

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Cornea and anterior eye assessment with slit lamp biomicroscopy, specular microscopy, confocal microscopy, and ultrasound biomicroscopy.

Raul Martin,

Current corneal assessment technologies make the process of corneal evaluation extremely fast and simple, and several devices and technologies show signs that help in identification of different diseases thereby, helping in diagnosis, management, and follow-up of patients. The purpose of this review is to present and update readers on the ... Read more >>

Indian J Ophthalmol (Indian journal of ophthalmology)
[2018, 66(2):195-201]

Cited: 1 time

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