James S Friedman

James S Friedman

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James S Friedman

James S Friedman

Publications by authors named "James S Friedman"

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Update on the Kelch-like (KLHL) gene family.

Hum Genomics 2013 May 15;7:13. Epub 2013 May 15.

Department of Ophthalmology, University of Colorado School of Medicine, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1186/1479-7364-7-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658946PMC
May 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

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.

Proc Natl Acad Sci U S A 2010 Aug 16;107(35):15523-8. Epub 2010 Aug 16.

Neurobiology-Neurodegeneration and Repair Laboratory, Biological Imaging Core, and Mechanisms of Retinal Diseases Section, Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.1002897107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932565PMC
August 2010

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.

Mamm Genome 2009 Feb 9;20(2):109-23. Epub 2009 Jan 9.

James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Hungerford Hill Road, Ithaca, New York 14853, USA.

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http://dx.doi.org/10.1007/s00335-008-9163-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652121PMC
February 2009

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Hum Mutat 2007 Jun;28(6):589-98

Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA.

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http://dx.doi.org/10.1002/humu.20488DOI Listing
June 2007

Retinoic acid regulates the expression of photoreceptor transcription factor NRL.

J Biol Chem 2006 Sep 19;281(37):27327-34. Epub 2006 Jul 19.

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA, and Translational Research Center, Kyoto University Hospital, Japan.

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http://dx.doi.org/10.1074/jbc.M605500200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1592579PMC
September 2006

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

Proc Natl Acad Sci U S A 2004 Dec 9;101(51):17819-24. Epub 2004 Dec 9.

Ocular Molecular Genetics Institute and Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.

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http://dx.doi.org/10.1073/pnas.0408183101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC535407PMC
December 2004

The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein.

J Biol Chem 2004 Nov 24;279(45):47233-41. Epub 2004 Aug 24.

Department of Ophthalmology, WK Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA.

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http://dx.doi.org/10.1074/jbc.M408298200DOI Listing
November 2004

Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays.

J Biol Chem 2004 Oct 28;279(40):42211-20. Epub 2004 Jul 28.

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48015, USA.

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http://dx.doi.org/10.1074/jbc.M408223200DOI Listing
October 2004

Protein localization in the human eye and genetic screen of opticin.

Hum Mol Genet 2002 May;11(11):1333-42

Department of Ophthalmology, University of Alberta, Edmonton, AB, Canada T6G-2H7.

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http://dx.doi.org/10.1093/hmg/11.11.1333DOI Listing
May 2002

Biomedicine. Under pressure.

Science 2002 Feb;295(5557):983-4

Department of Ophthalmology, University of Alberta, Edmonton, T6G 2S2 Alberta, Canada.

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http://dx.doi.org/10.1126/science.1069950DOI Listing
February 2002