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1.

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Ratnapriya, Rinki; Zhan, Xiaowei; Fariss, Robert N; Branham, Kari E; Zipprer, David; Chakarova, Christina F; Sergeev, Yuri V; Campos, Maria M; Othman, Mohammad; Friedman, James S; Maminishkis, Arvydas; Waseem, Naushin H; Brooks, Matthew; Rajasimha, Harsha K; Edwards, Albert O; Lotery, Andrew; Klein, Barbara E; Truitt, Barbara J; Li, Bingshan; Schaumberg, Debra A; Morgan, Denise J; Morrison, Margaux A; Souied, Eric; Tsironi, Evangelia E; Grassmann, Felix; Fishman, Gerald A; Silvestri, Giuliana; Scholl, Hendrik P N; Kim, Ivana K; Ramke, Jacqueline; Tuo, Jingsheng; Merriam, Joanna E; Merriam, John C; Park, Kyu Hyung; Olson, Lana M; Farrer, Lindsay A; Johnson, Matthew P; Peachey, Neal S; Lathrop, Mark; Baron, Robert V; Igo, Robert P; Klein, Ronald; Hagstrom, Stephanie A; Kamatani, Yoichiro; Martin, Tammy M; Jiang, Yingda; Conley, Yvette; Sahel, Jose-Alan; Zack, Donald J; Chan, Chi-Chao.

Hum Mol Genet ; 23(21): 5827-37, 2014 Nov 01.

Artículo en Inglés | MEDLINE | ID: mdl-24899048

2.

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

Dhanoa, Bajinder S; Cogliati, Tiziana; Satish, Akhila G; Bruford, Elspeth A; Friedman, James S.

Hum Genomics ; 7: 13, 2013 May 15.

Artículo en Inglés | MEDLINE | ID: mdl-23676014

3.

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

Friedman, James S; Chang, Bo; Krauth, Daniel S; Lopez, Irma; Waseem, Naushin H; Hurd, Ron E; Feathers, Kecia L; Branham, Kari E; Shaw, Manessa; Thomas, George E; Brooks, Matthew J; Liu, Chunqiao; Bakeri, Hirva A; Campos, Maria M; Maubaret, Cecilia; Webster, Andrew R; Rodriguez, Ignacio R; Thompson, Debra A; Bhattacharya, Shomi S; Koenekoop, Robert K; Heckenlively, John R; Swaroop, Anand.

Proc Natl Acad Sci U S A ; 107(35): 15523-8, 2010 Aug 31.

Artículo en Inglés | MEDLINE | ID: mdl-20713727

4.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Friedman, James S; Ray, Joseph W; Waseem, Naushin; Johnson, Kory; Brooks, Matthew J; Hugosson, Therése; Breuer, Debra; Branham, Kari E; Krauth, Daniel S; Bowne, Sara J; Sullivan, Lori S; Ponjavic, Vesna; Gränse, Lotta; Khanna, Ritu; Trager, Edward H; Gieser, Linn M; Hughbanks-Wheaton, Dianna; Cojocaru, Radu I; Ghiasvand, Noor M; Chakarova, Christina F; Abrahamson, Magnus; Göring, Harald H H; Webster, Andrew R; Birch, David G; Abecasis, Goncalo R; Fann, Yang; Bhattacharya, Shomi S; Daiger, Stephen P; Heckenlively, John R; Andréasson, Sten; Swaroop, Anand.

Am J Hum Genet ; 84(6): 792-800, 2009 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-19520207

5.

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

Kanda, Atsuhiro; Friedman, James S; Nishiguchi, Koji M; Swaroop, Anand.

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

Artículo en Inglés | MEDLINE | ID: mdl-17335001

6.

Seven new loci associated with age-related macular degeneration.

Fritsche, Lars G; Chen, Wei; Schu, Matthew; Yaspan, Brian L; Yu, Yi; Thorleifsson, Gudmar; Zack, Donald J; Arakawa, Satoshi; Cipriani, Valentina; Ripke, Stephan; Igo, Robert P; Buitendijk, Gabriëlle H S; Sim, Xueling; Weeks, Daniel E; Guymer, Robyn H; Merriam, Joanna E; Francis, Peter J; Hannum, Gregory; Agarwal, Anita; Armbrecht, Ana Maria; Audo, Isabelle; Aung, Tin; Barile, Gaetano R; Benchaboune, Mustapha; Bird, Alan C; Bishop, Paul N; Branham, Kari E; Brooks, Matthew; Brucker, Alexander J; Cade, William H; Cain, Melinda S; Campochiaro, Peter A; Chan, Chi-Chao; Cheng, Ching-Yu; Chew, Emily Y; Chin, Kimberly A; Chowers, Itay; Clayton, David G; Cojocaru, Radu; Conley, Yvette P; Cornes, Belinda K; Daly, Mark J; Dhillon, Baljean; Edwards, Albert O; Evangelou, Evangelos; Fagerness, Jesen; Ferreyra, Henry A; Friedman, James S; Geirsdottir, Asbjorg; George, Ronnie J.

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

Artículo en Inglés | MEDLINE | ID: mdl-23455636

7.

Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

Hugosson, Therése; Friedman, James S; Ponjavic, Vesna; Abrahamson, Magnus; Swaroop, Anand; Andréasson, Sten.

Arch Ophthalmol ; 128(6): 772-8, 2010 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-20547956

8.

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

Kukekova, Anna V; Goldstein, Orly; Johnson, Jennifer L; Richardson, Malcolm A; Pearce-Kelling, Susan E; Swaroop, Anand; Friedman, James S; Aguirre, Gustavo D; Acland, Gregory M.

Mamm Genome ; 20(2): 109-23, 2009 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-19130129

9.

Retinoic acid regulates the expression of photoreceptor transcription factor NRL.

Khanna, Hemant; Akimoto, Masayuki; Siffroi-Fernandez, Sandrine; Friedman, James S; Hicks, David; Swaroop, Anand.

J Biol Chem ; 281(37): 27327-34, 2006 Sep 15.

Artículo en Inglés | MEDLINE | ID: mdl-16854989

10.

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Friedman, James S; Chang, Bo; Kannabiran, Chitra; Chakarova, Christina; Singh, Hardeep P; Jalali, Subhadra; Hawes, Norman L; Branham, Kari; Othman, Mohammad; Filippova, Elena; Thompson, Debra A; Webster, Andrew R; Andréasson, Sten; Jacobson, Samuel G; Bhattacharya, Shomi S; Heckenlively, John R; Swaroop, Anand.

Am J Hum Genet ; 79(6): 1059-70, 2006 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-17186464

11.

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

Nishiguchi, Koji M; Friedman, James S; Sandberg, Michael A; Swaroop, Anand; Berson, Eliot L; Dryja, Thaddeus P.

Proc Natl Acad Sci U S A ; 101(51): 17819-24, 2004 Dec 21.

Artículo en Inglés | MEDLINE | ID: mdl-15591106

12.

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.

Yu, Jindan; He, Shirley; Friedman, James S; Akimoto, Masayuki; Ghosh, Debashis; Mears, Alan J; Hicks, David; Swaroop, Anand.

J Biol Chem ; 279(40): 42211-20, 2004 Oct 01.

Artículo en Inglés | MEDLINE | ID: mdl-15292180

13.

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

Friedman, James S; Faucher, Mathieu; Hiscott, Paul; Biron, Vincent L; Malenfant, Mario; Turcotte, Pierre; Raymond, Vincent; Walter, Michael A.

Hum Mol Genet ; 11(11): 1333-42, 2002 May 15.

Artículo en Inglés | MEDLINE | ID: mdl-12019215

14.

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

Friedman, James S; Khanna, Hemant; Swain, Prabodh K; Denicola, Raphael; Cheng, Hong; Mitton, Kenneth P; Weber, Christian H; Hicks, David; Swaroop, Anand.

J Biol Chem ; 279(45): 47233-41, 2004 Nov 05.

Artículo en Inglés | MEDLINE | ID: mdl-15328344

15.

Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl.

Yoshida, Shigeo; Mears, Alan J; Friedman, James S; Carter, Todd; He, Shirley; Oh, Edwin; Jing, Yuezhou; Farjo, Rafal; Fleury, Gilles; Barlow, Carrolee; Hero, Alfred O; Swaroop, Anand.

Hum Mol Genet ; 13(14): 1487-503, 2004 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-15163632

16.

Biomedicine. Under pressure.

Friedman, James S; Walter, Michael A.

Science ; 295(5557): 983-4, 2002 Feb 08.

Artículo en Inglés | MEDLINE | ID: mdl-11834805

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