Publications by authors named "Stephanie A Hagstrom"

56Publications

Evidence of complement dysregulation in outer retina of Stargardt disease donor eyes.

Redox Biol 2020 Nov 10:101787. Epub 2020 Nov 10.

UCLA Stein Eye Institute and Department of Ophthalmology, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, CA, 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.redox.2020.101787DOI Listing
November 2020

Cellular Changes in Retinas From Patients With Mutations.

Front Cell Dev Biol 2020 14;8:573330. Epub 2020 Oct 14.

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, United States.

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http://dx.doi.org/10.3389/fcell.2020.573330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7591587PMC
October 2020

Prolonged ocular exposure leads to retinal lesions in mice.

Exp Eye Res 2019 08 22;185:107672. Epub 2019 May 22.

Cole Eye Institute/Ophthalmic Research, Cleveland Clinic, Cleveland, OH, United States; Louis Stokes Cleveland VA Medical Center, Cleveland, OH, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00144835193009
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http://dx.doi.org/10.1016/j.exer.2019.05.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332086PMC
August 2019

The Retinol-Binding Protein Receptor 2 (Rbpr2) Is Required for Photoreceptor Survival and Visual Function in the Zebrafish.

Adv Exp Med Biol 2018 ;1074:569-576

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.1007/978-3-319-75402-4_69DOI Listing
May 2019

Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration.

PLoS One 2016 17;11(3):e0151806. Epub 2016 Mar 17.

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, 44195, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151806PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795779PMC
August 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

A Novel Approach to Identify Photoreceptor Compartment-Specific Tulp1 Binding Partners.

Adv Exp Med Biol 2016 ;854:605-11

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, 44195, Cleveland, OH, USA.

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http://dx.doi.org/10.1007/978-3-319-17121-0_80DOI Listing
April 2016

TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR).

Adv Exp Med Biol 2016 ;854:223-30

Department of Ophthalmic Research-i31, Cole Eye Institute, Cleveland Clinic, 9500 Euclid Avenue, 44195, Cleveland, OH, USA.

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http://dx.doi.org/10.1007/978-3-319-17121-0_30DOI Listing
April 2016

Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations.

Graefes Arch Clin Exp Ophthalmol 2015 Dec 23;253(12):2161-9. Epub 2015 Jul 23.

Cole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.

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http://dx.doi.org/10.1007/s00417-015-3099-7DOI Listing
December 2015

Does genetic variation influence response to treatment with vascular endothelial growth factor inhibitors in neovascular age-related macular degeneration?

Ophthalmic Epidemiol 2014 Dec;21(6):345-6

Center for Experimental Medicine, Queen's University Belfast , Belfast , UK and.

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http://dx.doi.org/10.3109/09286586.2014.966850DOI Listing
December 2014

Mutation screen of LOXL1 in patients with female pelvic organ prolapse.

Female Pelvic Med Reconstr Surg 2014 Nov-Dec;20(6):316-21

From the *Urology Institute, University Hospitals Case Medical Center; †Department of Urology, Case Western Reserve University School of Medicine; ‡Cole Eye Institute, and §Glickman Urological Institute, Cleveland Clinic, Cleveland, OH.

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http://dx.doi.org/10.1097/SPV.0000000000000108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263899PMC
June 2015

Endothelial PAS domain-containing protein 1 (EPAS1) gene polymorphisms and response to anti-VEGF therapy in the comparison of AMD treatments trials (CATT).

Ophthalmology 2014 Aug 9;121(8):1663-4.e1. Epub 2014 May 9.

Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420140018
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http://dx.doi.org/10.1016/j.ophtha.2014.02.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122574PMC
August 2014

Author reply: To PMID 23337555.

Ophthalmology 2014 Aug 6;121(8):e44-5. Epub 2014 May 6.

Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio.

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http://dx.doi.org/10.1016/j.ophtha.2014.02.026DOI Listing
August 2014

Interaction of tubby-like protein-1 (Tulp1) and microtubule-associated protein (MAP) 1A and MAP1B in the mouse retina.

Adv Exp Med Biol 2014 ;801:511-8

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA,

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http://dx.doi.org/10.1007/978-1-4614-3209-8_65DOI Listing
July 2014

Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.

Br J Ophthalmol 2014 Apr 23;98(4):513-8. Epub 2014 Jan 23.

Abrahamson Eye Institute, Cincinnati Children's Hospital Medical Center, , Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1136/bjophthalmol-2013-304270DOI Listing
April 2014

Protein partners of dynamin-1 in the retina.

Vis Neurosci 2013 Jul 10;30(4):129-39. Epub 2013 Jun 10.

Department of Ophthalmic Research, Cleveland Clinic Cole Eye Institute, Cleveland, Ohio.

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http://dx.doi.org/10.1017/S0952523813000138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936680PMC
July 2013

Retinal deimination and PAD2 levels in retinas from donors with age-related macular degeneration (AMD).

Exp Eye Res 2013 Jun 3;111:71-8. Epub 2013 Apr 3.

Department of Ophthalmology, The Cole Eye Institute(i31), Cleveland Clinic Lerner College of Medicine, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1016/j.exer.2013.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683981PMC
June 2013

Seven new loci associated with age-related macular degeneration.

Authors:
Lars G Fritsche Wei Chen Matthew Schu Brian L Yaspan Yi Yu Gudmar Thorleifsson Donald J Zack Satoshi Arakawa Valentina Cipriani Stephan Ripke Robert P Igo Gabriëlle H S Buitendijk Xueling Sim Daniel E Weeks Robyn H Guymer Joanna E Merriam Peter J Francis Gregory Hannum Anita Agarwal Ana Maria Armbrecht Isabelle Audo Tin Aung Gaetano R Barile Mustapha Benchaboune Alan C Bird Paul N Bishop Kari E Branham Matthew Brooks Alexander J Brucker William H Cade Melinda S Cain Peter A Campochiaro Chi-Chao Chan Ching-Yu Cheng Emily Y Chew Kimberly A Chin Itay Chowers David G Clayton Radu Cojocaru Yvette P Conley Belinda K Cornes Mark J Daly Baljean Dhillon Albert O Edwards Evangelos Evangelou Jesen Fagerness Henry A Ferreyra James S Friedman Asbjorg Geirsdottir Ronnie J George Christian Gieger Neel Gupta Stephanie A Hagstrom Simon P Harding Christos Haritoglou John R Heckenlively Frank G Holz Guy Hughes John P A Ioannidis Tatsuro Ishibashi Peronne Joseph Gyungah Jun Yoichiro Kamatani Nicholas Katsanis Claudia N Keilhauer Jane C Khan Ivana K Kim Yutaka Kiyohara Barbara E K Klein Ronald Klein Jaclyn L Kovach Igor Kozak Clara J Lee Kristine E Lee Peter Lichtner Andrew J Lotery Thomas Meitinger Paul Mitchell Saddek Mohand-Saïd Anthony T Moore Denise J Morgan Margaux A Morrison Chelsea E Myers Adam C Naj Yusuke Nakamura Yukinori Okada Anton Orlin M Carolina Ortube Mohammad I Othman Chris Pappas Kyu Hyung Park Gayle J T Pauer Neal S Peachey Olivier Poch Rinki Ratna Priya Robyn Reynolds Andrea J Richardson Raymond Ripp Guenther Rudolph Euijung Ryu José-Alain Sahel Debra A Schaumberg Hendrik P N Scholl Stephen G Schwartz William K Scott Humma Shahid Haraldur Sigurdsson Giuliana Silvestri Theru A Sivakumaran R Theodore Smith Lucia Sobrin Eric H Souied Dwight E Stambolian Hreinn Stefansson Gwen M Sturgill-Short Atsushi Takahashi Nirubol Tosakulwong Barbara J Truitt Evangelia E Tsironi André G Uitterlinden Cornelia M van Duijn Lingam Vijaya Johannes R Vingerling Eranga N Vithana Andrew R Webster H-Erich Wichmann Thomas W Winkler Tien Y Wong Alan F Wright Diana Zelenika Ming Zhang Ling Zhao Kang Zhang Michael L Klein Gregory S Hageman G Mark Lathrop Kari Stefansson Rando Allikmets Paul N Baird Michael B Gorin Jie Jin Wang Caroline C W Klaver Johanna M Seddon Margaret A Pericak-Vance Sudha K Iyengar John R W Yates Anand Swaroop Bernhard H F Weber Michiaki Kubo Margaret M Deangelis Thierry Léveillard Unnur Thorsteinsdottir Jonathan L Haines Lindsay A Farrer Iris M Heid Gonçalo R Abecasis

Nat Genet 2013 Apr 3;45(4):433-9, 439e1-2. Epub 2013 Mar 3.

Institute of Human Genetics, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.2578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739472PMC
April 2013

Tulp1 is involved in specific photoreceptor protein transport pathways.

Adv Exp Med Biol 2012 ;723:783-9

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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http://link.springer.com/10.1007/978-1-4614-0631-0_100
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http://dx.doi.org/10.1007/978-1-4614-0631-0_100DOI Listing
April 2012

Isolating photoreceptor compartment-specific protein complexes for subsequent proteomic analysis.

Adv Exp Med Biol 2012 ;723:701-7

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1007/978-1-4614-0631-0_89DOI Listing
April 2012

Immunocytochemical evidence of Tulp1-dependent outer segment protein transport pathways in photoreceptor cells.

Exp Eye Res 2011 Nov 16;93(5):658-68. Epub 2011 Aug 16.

Department of Ophthalmic Research, i31, Cole Eye Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00144835110023
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http://dx.doi.org/10.1016/j.exer.2011.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3221742PMC
November 2011

Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.

Ophthalmic Genet 2010 Sep;31(3):129-34

Louis Stokes Cleveland Department of Veterans Affairs Medical Center, Cleveland, Ohio, USA.

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http://dx.doi.org/10.3109/13816810.2010.486774DOI Listing
September 2010

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Proc Natl Acad Sci U S A 2010 Apr 12;107(16):7401-6. Epub 2010 Apr 12.

Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1073/pnas.0912702107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867722PMC
April 2010

Tubby-like protein 1 (Tulp1) is required for normal photoreceptor synaptic development.

Adv Exp Med Biol 2010 ;664:89-96

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

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http://link.springer.com/10.1007/978-1-4419-1399-9_11
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http://dx.doi.org/10.1007/978-1-4419-1399-9_11DOI Listing
September 2011

Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

Am J Ophthalmol 2010 Mar 30;149(3):513-22. Epub 2009 Dec 30.

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1016/j.ajo.2009.09.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026437PMC
March 2010

Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.

Mol Vis 2009 10;15:731-6. Epub 2009 Apr 10.

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667568PMC
July 2009

Early synaptic defects in tulp1-/- mice.

Invest Ophthalmol Vis Sci 2009 Jul 14;50(7):3074-83. Epub 2009 Feb 14.

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1167/iovs.08-3190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021947PMC
July 2009

Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers.

Mol Cell Proteomics 2009 Jun 6;8(6):1338-49. Epub 2009 Feb 6.

Cole Eye Institute, Lerner Research Inst., Cleveland Clinic Foundation, 9500 Euclid Ave., Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1074/mcp.M800453-MCP200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2690477PMC
June 2009

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

Mol Vis 2009 21;15:162-7. Epub 2009 Jan 21.

Case Western Reserve University School of Medicine, Cleveland, OH, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2628315PMC
May 2009

Interaction between the photoreceptor-specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1.

Invest Ophthalmol Vis Sci 2007 Jun;48(6):2837-44

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1167/iovs.06-0059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021943PMC
June 2007

Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.

Exp Eye Res 2006 Sep 27;83(3):569-73. Epub 2006 Apr 27.

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1016/j.exer.2006.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3023989PMC
September 2006

Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations.

Ophthalmic Genet 2005 Dec;26(4):157-61

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1080/13816810500374425DOI Listing
December 2005

Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells.

Invest Ophthalmol Vis Sci 2005 Dec;46(12):4754-61

Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1167/iovs.05-0693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026440PMC
December 2005

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

Am J Med Genet A 2005 Oct;138A(2):95-8

Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1002/ajmg.a.30803DOI Listing
October 2005

Probing inner retinal circuits in the rod pathway: a comparison of c-fos activation in mutant mice.

Vis Neurosci 2004 Nov-Dec;21(6):873-81

Cleveland Department of Veterans Affairs Medical Center, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1017/S0952523804216078DOI Listing
April 2005

Retinal degeneration caused by mutations in TULP1.

Adv Exp Med Biol 2003 ;533:303-8

Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1007/978-1-4615-0067-4_37DOI Listing
August 2004

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.

Nature 2004 Jan;427(6969):75-8

Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.

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http://www.nature.com/articles/nature02170
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http://dx.doi.org/10.1038/nature02170DOI Listing
January 2004

Chemical Characterization of Polysaccharide from the Slime Layer of the Cyanobacterium Microcystis flos-aquae C3-40.

Appl Environ Microbiol 1991 Jun;57(6):1696-1700

Departments of Chemistry and Biology and Microbiology, University of Wisconsin—Oshkosh, Oshkosh, Wisconsin 54901.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC183454PMC
http://dx.doi.org/10.1128/AEM.57.6.1696-1700.1991DOI Listing
June 1991