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Items: 1 to 20 of 33

1.
Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism
Yingwei Wang, Wenmin Sun, Xueshan Xiao, Yi Jiang, Jiamin Ouyang, Junwen Wang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J. Fielding Hejtmancik, Qingjiong Zhang
Invest Ophthalmol Vis Sci. 2023 Apr; 64(4): 29. Published online 2023 Apr 25. doi: 10.1167/iovs.64.4.29
PMCID:
PMC10148663
AbstractArticlePDF–6.5M
2.
Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia
Maureen Neitz, Melissa Wagner-Schuman, Jessica S. Rowlan, James A. Kuchenbecker, Jay Neitz
Genes (Basel) 2022 Jun; 13(6): 942. Published online 2022 May 25. doi: 10.3390/genes13060942
PMCID:
PMC9222437
AbstractArticlePDF–1.1M
3.
Thyroid Hormone Controls Cone Opsin Expression in the Retina of Adult Rodents
Anika Glaschke, Jessica Weiland, Domenico Del Turco, Marianne Steiner, Leo Peichl, Martin Glösmann
J Neurosci. 2011 Mar 30; 31(13): 4844–4851. doi: 10.1523/JNEUROSCI.6181-10.2011
PMCID:
PMC6622973
AbstractArticlePDF–2.2M
4.
Differential stability of variant OPN1LW gene transcripts in myopic patients
Jessica K. Mountford, Wayne I. L. Davies, Lyn R. Griffiths, Seyhan Yazar, David A. Mackey, David M. Hunt
Mol Vis. 2019; 25: 183–193. Published online 2019 Mar 17.
PMCID:
PMC6441357
AbstractArticlePDF–917K
5.
Signatures of Selection and Gene Conversion Associated with Human Color Vision Variation
Brian C. Verrelli, Sarah A. Tishkoff
Am J Hum Genet. 2004 Sep; 75(3): 363–375. Published online 2004 Jul 13. doi: 10.1086/423287
PMCID:
PMC1182016
AbstractArticlePDF–683K
6.
Beyond spectral tuning: human cone visual pigments adopt different transient conformations for chromophore regeneration
Sundaramoorthy Srinivasan, Arnau Cordomí, Eva Ramon, Pere Garriga
Cell Mol Life Sci. 2016 Mar; 73(6): 1253–1263. Published online 2015 Sep 19. doi: 10.1007/s00018-015-2043-7
PMCID:
PMC11108329
AbstractArticlePDF–1.1M
7.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V. Cideciyan, Katarina Stingl, Isabelle Audo, Isabelle Meunier, Beatrice Bocquet, Elias I. Traboulsi, Alison J. Hardcastle, Jessica C. Gardner, Michel Michaelides, Kari E. Branham, Thomas Rosenberg, Sten Andreasson, Hélène Dollfus, David Birch, Andrea L. Vincent, Loreto Martorell, Jaume Català Mora, Ulrich Kellner, Klaus Rüther, Birgit Lorenz, Markus N. Preising, Emanuela Manfredini, Yuri A. Zarate, Raymon Vijzelaar, Eberhart Zrenner, Samuel G. Jacobson, Susanne Kohl
Proc Natl Acad Sci U S A. 2022 Jul 5; 119(27): e2115538119. Published online 2022 Jun 27. doi: 10.1073/pnas.2115538119
PMCID:
PMC9271157
AbstractArticlePDF–1.7M
8.
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger
Int J Mol Sci. 2022 Jun; 23(12): 6868. Published online 2022 Jun 20. doi: 10.3390/ijms23126868
PMCID:
PMC9224739
AbstractArticlePDF–1.7M
9.
Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders
Maureen Neitz, Jay Neitz
Genes (Basel) 2021 Aug; 12(8): 1180. Published online 2021 Jul 29. doi: 10.3390/genes12081180
PMCID:
PMC8391646
AbstractArticlePDF–1.9M
10.
Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr–rich domain conserved in vertebrates
David Salom, Hui Jin, Thomas A. Gerken, Clinton Yu, Lan Huang, Krzysztof Palczewski
J Biol Chem. 2019 May 17; 294(20): 8123–8133. Published online 2019 Apr 4. doi: 10.1074/jbc.RA118.006835
PMCID:
PMC6527158
AbstractArticlePDF–1.9M
11.
A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report
Elena Buena-Atienza, Fadi Nasser, Susanne Kohl, Bernd Wissinger
BMC Med Genet. 2018; 19: 107. Published online 2018 Jun 26. doi: 10.1186/s12881-018-0623-8
PMCID:
PMC6019650
AbstractArticlePDF–1.9M
12.
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency
Emily J. Patterson, Melissa Wilk, Christopher S. Langlo, Melissa Kasilian, Michael Ring, Robert B. Hufnagel, Adam M. Dubis, James J. Tee, Angelos Kalitzeos, Jessica C. Gardner, Zubair M. Ahmed, Robert A. Sisk, Michael Larsen, Stacy Sjoberg, Thomas B. Connor, Alfredo Dubra, Jay Neitz, Alison J. Hardcastle, Maureen Neitz, Michel Michaelides, Joseph Carroll
Invest Ophthalmol Vis Sci. 2016 Jul; 57(8): 3853–3863. Published online 2016 Jul 22. doi: 10.1167/iovs.16-19608
PMCID:
PMC4968428
AbstractArticlePDF–1.2M
13.
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
Elena Buena-Atienza, Klaus Rüther, Britta Baumann, Richard Bergholz, David Birch, Elfride De Baere, Helene Dollfus, Marie T. Greally, Peter Gustavsson, Christian P. Hamel, John R. Heckenlively, Bart P. Leroy, Astrid S. Plomp, Jan Willem R. Pott, Katherine Rose, Thomas Rosenberg, Zornitza Stark, Joke B. G. M. Verheij, Richard Weleber, Ditta Zobor, Nicole Weisschuh, Susanne Kohl, Bernd Wissinger
Sci Rep. 2016; 6: 28253. Published online 2016 Jun 24. doi: 10.1038/srep28253
PMCID:
PMC4919619
AbstractArticlePDF–1.3M
14.
Genetic Variation in Osteopontin Gene Is Associated with Susceptibility to Sarcoidosis in Slovenian Population
A. Maver, I. Medica, B. Salobir, M. Tercelj, B. Peterlin
Dis Markers. 2009; 27(6): 295–302. Published online 2010 Jan 14. doi: 10.3233/DMA-2009-0675
PMCID:
PMC3835065
SummaryPDF–524K
15.
The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic
Joseph Carroll, Alfredo Dubra, Jessica C. Gardner, Liliana Mizrahi-Meissonnier, Robert F. Cooper, Adam M. Dubis, Rick Nordgren, Mohamed Genead, Thomas B. Connor, Jr, Kimberly E. Stepien, Dror Sharon, David M. Hunt, Eyal Banin, Alison J. Hardcastle, Anthony T. Moore, David R. Williams, Gerald Fishman, Jay Neitz, Maureen Neitz, Michel Michaelides
Invest Ophthalmol Vis Sci. 2012 Dec; 53(13): 8006–8015. Published online 2012 Dec 5. doi: 10.1167/iovs.12-11087
PMCID:
PMC3816954
AbstractArticlePDF–906K
16.
Clinical utility gene card for: blue cone monochromatism
Susanne Kohl, Christian P Hamel
Eur J Hum Genet. 2011 Jun; 19(6) Published online 2011 Jan 26. doi: 10.1038/ejhg.2010.232
PMCID:
PMC3110038
ArticlePDF–106K
17.
Genetic heterogeneity among blue-cone monochromats
Jeremy Nathans, Irene H. Maumenee, Eberhart Zrenner, Bettina Sadowski, Lindsay T. Sharpe, Richard A. Lewis, Egill Hansen, Thomas Rosenberg, Marianne Schwartz, John R. Heckenlively, Elias Traboulsi, Roger Klingaman, N. Torben Bech-Hansen, G. Robert LaRoche, Roberta A. Pagon, William H. Murphey, Richard G. Weleber
Am J Hum Genet. 1993 Nov; 53(5): 987–1000.
PMCID:
PMC1682301
SummaryPage BrowsePDF–1.8M
18.
The human blue opsin promoter directs transgene expression in short-wave cones and bipolar cells in the mouse retina.
J Chen, C L Tucker, B Woodford, A Szél, J Lem, A Gianella-Borradori, M I Simon, E Bogenmann
Proc Natl Acad Sci U S A. 1994 Mar 29; 91(7): 2611–2615. doi: 10.1073/pnas.91.7.2611
PMCID:
PMC43419
SummaryPage BrowsePDF–1.8M
19.
Rod photoreceptor neurite sprouting in retinitis pigmentosa
ZY Li, IJ Kljavin, AH Milam
J Neurosci. 1995 Aug 1; 15(8): 5429–5438. doi: 10.1523/JNEUROSCI.15-08-05429.1995
PMCID:
PMC6577619
AbstractPDF–5.1M
20.
Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy
Wen-Tao Deng, Jie Li, Ping Zhu, Vince A. Chiodo, W. Clay Smith, Beau Freedman, Wolfgang Baehr, Jijing Pang, William W. Hauswirth
Mol Vis. 2018; 24: 17–28. Published online 2018 Jan 8.
PMCID:
PMC5757852
AbstractArticlePDF–2.7M

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