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Items: 1 to 20 of 23

1.
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
2.
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
3.
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
4.
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
5.
GRK1-Dependent Phosphorylation of S and M Opsins and Their Binding to Cone Arrestin during Cone Phototransduction in the Mouse Retina
Xuemei Zhu, Bruce Brown, Aimin Li, Alan J. Mears, Anand Swaroop, Cheryl M. Craft
J Neurosci. 2003 Jul 9; 23(14): 6152–6160. doi: 10.1523/JNEUROSCI.23-14-06152.2003
PMCID:
PMC6740345
AbstractArticlePDF–688K
6.
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
7.
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
8.
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
9.
Increasing the Stability of Recombinant Human Green Cone Pigment
Timothy S. Owen, David Salom, Wenyu Sun, Krzysztof Palczewski
Biochemistry. Author manuscript; available in PMC 2018 Mar 15.
Published in final edited form as: Biochemistry. 2018 Feb 13; 57(6): 1022–1030. Published online 2018 Jan 29. doi: 10.1021/acs.biochem.7b01118
PMCID:
PMC5853123
AbstractArticlePDF–1.6M
10.
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
11.
Hydrogen/Deuterium Exchange Mass Spectrometry of Human Green Opsin Reveals a Conserved Pro-Pro Motif in Extracellular Loop 2 of Monostable Visual G Protein-Coupled Receptors
Lukas Hofrnann, Nathan S. Alexander, Wenyu Sun, Jianye Zhang, Tivadar Orban, Krzysztof Palczewski
Biochemistry. Author manuscript; available in PMC 2017 Jul 7.
Published in final edited form as: Biochemistry. 2017 May 2; 56(17): 2338–2348. Published online 2017 Apr 21. doi: 10.1021/acs.biochem.7b00165
PMCID:
PMC5501310
AbstractArticlePDF–1.1M
12.
A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins
Beata Jastrzebska, William D. Comar, Megan J. Kaliszewski, Kevin C. Skinner, Morgan H. Torcasio, Anthony S. Esway, Hui Jin, Krzysztof Palczewski, Adam W. Smith
Biochemistry. Author manuscript; available in PMC 2017 Jan 28.
Published in final edited form as: Biochemistry. 2017 Jan 10; 56(1): 61–72. Published online 2016 Nov 29. doi: 10.1021/acs.biochem.6b00877
PMCID:
PMC5274527
AbstractArticlePDF–715K
13.
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
14.
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
15.
G-protein-coupled receptors participate in cytokinesis
Xin Zhang, Anne V. Bedigian, Wenchao Wang, Ulrike S. Eggert
Cytoskeleton (Hoboken) Author manuscript; available in PMC 2014 Aug 19.
Published in final edited form as: Cytoskeleton (Hoboken). 2012 Oct; 69(10): 810–818. Published online 2012 Aug 28. doi: 10.1002/cm.21055
PMCID:
PMC4137143
AbstractArticlePDF–1.1M
16.
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
17.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
18.
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
19.
X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins
Jessica C. Gardner, Tom R. Webb, Naheed Kanuga, Anthony G. Robson, Graham E. Holder, Andrew Stockman, Caterina Ripamonti, Neil D. Ebenezer, Olufunmilola Ogun, Sophie Devery, Genevieve A. Wright, Eamonn R. Maher, Michael E. Cheetham, Anthony T. Moore, Michel Michaelides, Alison J. Hardcastle
Am J Hum Genet. 2010 Jul 9; 87(1): 26–39. doi: 10.1016/j.ajhg.2010.05.019
PMCID:
PMC2896775
AbstractArticlePDF–1.3M
20.
Fulfilling the Promise of Personalized Medicine? Systematic Review and Field Synopsis of Pharmacogenetic Studies
Michael V. Holmes, Tina Shah, Christine Vickery, Liam Smeeth, Aroon D. Hingorani, Juan P. Casas
PLoS One. 2009; 4(12): e7960. Published online 2009 Dec 2. doi: 10.1371/journal.pone.0007960
PMCID:
PMC2778625
AbstractArticlePDF–768K

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