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Select item 92711571.

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

Abstract Article PDF–1.7M

Select item 92247392.

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

Abstract Article PDF–1.7M

Select item 83916463.

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

Abstract Article PDF–1.9M

Select item 67403454.

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

Abstract Article PDF–688K

Select item 65776195.

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

Abstract PDF–5.1M

Select item 65271586.

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

Abstract Article PDF–1.9M

Select item 60196507.

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

Abstract Article PDF–1.9M

Select item 58531238.

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

Abstract Article PDF–1.6M

Select item 57578529.

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

Abstract Article PDF–2.7M

Select item 550131010.

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

Abstract Article PDF–1.1M

Select item 527452711.

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

Abstract Article PDF–715K

Select item 496842812.

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

Abstract Article PDF–1.2M

Select item 491961913.

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

Abstract Article PDF–1.3M

Select item 413714314.

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

Abstract Article PDF–1.1M

Select item 381695415.

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

Abstract Article PDF–906K

Select item 317805916.

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

Abstract Article PDF–1.0M

Select item 311003817.

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

Article PDF–106K

Select item 289677518.

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

Abstract Article PDF–1.3M

Select item 277862519.

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

Abstract Article PDF–768K

Select item 271357020.

The Action of 11-cis-Retinol on Cone Opsins and Intact Cone Photoreceptors

Petri Ala-Laurila, M. Carter Cornwall, Rosalie K. Crouch, Masahiro Kono

J Biol Chem. 2009 Jun 12; 284(24): 16492–16500. Published online 2009 Apr 22. doi: 10.1074/jbc.M109.004697

PMCID:: PMC2713570

Abstract Article PDF–1.6M

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