Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. SJ Pittler, W Baehr Proceedings of the National Academy of Sciences 88 (19), 8322-8326, 1991 | 647 | 1991 |
Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis I Perrault, JM Rozet, P Calvas, S Gerber, A Camuzat, H Dollfus, ... Nature genetics 14 (4), 461-464, 1996 | 533 | 1996 |
Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. ML Suber, SJ Pittler, N Qin, GC Wright, V Holcombe, RH Lee, CM Craft, ... Proceedings of the National Academy of Sciences 90 (9), 3968-3972, 1993 | 338 | 1993 |
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness JP Van Hooser, TS Aleman, YG He, AV Cideciyan, V Kuksa, SJ Pittler, ... Proceedings of the National Academy of Sciences 97 (15), 8623-8628, 2000 | 309 | 2000 |
Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase SH Huang, SJ Pittler, X Huang, L Oliveira, EL Berson, TP Dryja Nature genetics 11 (4), 468-471, 1995 | 302 | 1995 |
Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success SG Jacobson, TS Aleman, AV Cideciyan, A Sumaroka, SB Schwartz, ... Proceedings of the National Academy of Sciences 102 (17), 6177-6182, 2005 | 280 | 2005 |
Three-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegeneration JC Gilliam, JT Chang, IM Sandoval, Y Zhang, T Li, SJ Pittler, W Chiu, ... Cell 151 (5), 1029-1041, 2012 | 170 | 2012 |
Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase α-subunit and chromosomal localization of the human gene SJ Pittler, W Baehr, JJ Wasmuth, DG McConnell, MS Champagne, ... Genomics 6 (2), 272-283, 1990 | 127 | 1990 |
PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect. SJ Pittler, CE Keeler, RL Sidman, W Baehr Proceedings of the National Academy of Sciences 90 (20), 9616-9619, 1993 | 122 | 1993 |
Mouse opsin. Gene structure and molecular basis of multiple transcripts MR Al-Ubaidi, SJ Pittler, MS Champagne, JT Triantafyllos, JF McGinnis, ... Journal of Biological Chemistry 265 (33), 20563-20569, 1990 | 118 | 1990 |
In vitro isoprenylation and membrane association of mouse rod photoreceptor cGMP phosphodiesterase alpha and beta subunits expressed in bacteria. N Qin, SJ Pittler, W Baehr Journal of Biological Chemistry 267 (12), 8458-8463, 1992 | 108 | 1992 |
Knockout of GARPs and the β-subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity Y Zhang, LL Molday, RS Molday, SS Sarfare, ML Woodruff, GL Fain, ... Journal of Cell Science 122 (8), 1192-1200, 2009 | 94 | 2009 |
Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel. SJ Pittler, AK Lee, MR Altherr, TA Howard, MF Seldin, RL Hurwitz, ... Journal of Biological Chemistry 267 (9), 6257-6262, 1992 | 87 | 1992 |
Functional analysis of the rod photoreceptor cGMP phosphodiesterase α-subunit gene promoter: Nrl and Crx are required for full transcriptional activity SJ Pittler, Y Zhang, S Chen, AJ Mears, DJ Zack, Z Ren, PK Swain, S Yao, ... Journal of Biological Chemistry 279 (19), 19800-19807, 2004 | 73 | 2004 |
Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation N Tuntivanich, SJ Pittler, AJ Fischer, G Omar, M Kiupel, A Weber, S Yao, ... Investigative ophthalmology & visual science 50 (2), 801-813, 2009 | 68 | 2009 |
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis MJ Simovich, B Miller, H Ezzeldin, BT Kirkland, G McLeod, C Fulmer, ... Human mutation 18 (2), 164-164, 2001 | 66 | 2001 |
In vivo biosynthesis of cholesterol in the rat retina SJ Fliesler, R Florman, LM Rapp, SJ Pittler, RK Keller FEBS letters 335 (2), 234-238, 1993 | 64 | 1993 |
Complete cDNA sequences of mouse rod photoreceptor cGMP phosphodiesterase α-and β-subunits, and identification of β′-, a putative β-subunit isozyme produced by alternative … W Baehr, MS Champagne, AK Lee, SJ Pittler FEBS letters 278 (1), 107-114, 1991 | 63 | 1991 |
Investigation of the hyper-reflective inner/outer segment band in optical coherence tomography of living frog retina RW Lu, CA Curcio, Y Zhang, QX Zhang, SJ Pittler, D Deretic, XC Yao Journal of biomedical optics 17 (6), 060504-060504, 2012 | 54 | 2012 |
Genomic organization of the human rod photoreceptor cGMP-gated cation channel β-subunit gene MD Ardell, DL Bedsole, RV Schoborg, SJ Pittler Gene 245 (2), 311-318, 2000 | 53 | 2000 |