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Select item 55678681.

Identification of Phosphorylation Codes for Arrestin Recruitment by G protein-Coupled Receptors

X. Edward Zhou, Yuanzheng He, Parker W. de Waal, Xiang Gao, Yanyong Kang, Ned Van Eps, Yanting Yin, Kuntal Pal, Devrishi Goswami, Thomas A. White, Anton Barty, Naomi R. Latorraca, Henry N. Chapman, Wayne L. Hubbell, Ron O. Dror, Raymond C. Stevens, Vadim Cherezov, Vsevolod V. Gurevich, Patrick R. Griffin, Oliver P. Ernst, Karsten Melcher, H. Eric Xu

Cell. Author manuscript; available in PMC 2018 Jul 27.

Published in final edited form as: Cell. 2017 Jul 27; 170(3): 457–469.e13. doi: 10.1016/j.cell.2017.07.002

PMCID:: PMC5567868

Abstract Article PDF–3.3M

Select item 55165672.

Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme

Beau R. Froebel, Alexandria J. Trujillo, Jack M. Sullivan

Invest Ophthalmol Vis Sci. 2017 Jul; 58(9): 3576–3591. doi: 10.1167/iovs.16-20877

PMCID:: PMC5516567

Abstract Article PDF–2.2M

Select item 70584313.

A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes

Shari R. Atilano, M. Cristina Kenney, Adriana D. Briscoe, Kimberly A. Jameson

Mol Vis. 2020; 26: 158–172. Published online 2020 Mar 5.

PMCID:: PMC7058431

Abstract Article PDF–2.4M

Select item 70278114.

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach

Aliete Wan, Emily Place, Eric A. Pierce, Jason Comander

Hum Mutat. 2019 Aug; 40(8): 1127–1144. Published online 2019 Jun 22. doi: 10.1002/humu.23762

PMCID:: PMC7027811

Abstract Article PDF–4.4M

Select item 69823485.

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa

Marianthi Karali, Francesco Testa, Raffaella Brunetti-Pierri, Valentina Di Iorio, Mariateresa Pizzo, Paolo Melillo, Maria Rosaria Barillari, Annalaura Torella, Francesco Musacchia, Luigi D’Angelo, Sandro Banfi, Francesca Simonelli

Int J Mol Sci. 2020 Jan; 21(1): 86. Published online 2019 Dec 20. doi: 10.3390/ijms21010086

PMCID:: PMC6982348

Abstract Article PDF–1.1M

Select item 69782396.

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing

Juan C. Zenteno, Leopoldo A. García‐Montaño, Marisa Cruz‐Aguilar, Josué Ronquillo, Agustín Rodas‐Serrano, Luis Aguilar‐Castul, Rodrigo Matsui, Carlos I. Vencedor‐Meraz, Rocío Arce‐González, Federico Graue‐Wiechers, Mario Gutiérrez‐Paz, Tatiana Urrea‐Victoria, Ulises de Dios Cuadras, Oscar F. Chacón‐Camacho

Mol Genet Genomic Med. 2020 Jan; 8(1): 10.1002/mgg3.1044. Published online 2019 Nov 17. doi: 10.1002/mgg3.1044

PMCID:: PMC6978239

Abstract Article PDF–1.3M

Select item 69081387.

Systematic Screening, Rational Development, and Initial Optimization of Efficacious RNA Silencing Agents for Human Rod Opsin Therapeutics

Edwin H. Yau, Robert T. Taggart, Mohammed Zuber, Alexandria J. Trujillo, Zahra S. Fayazi, Mark C. Butler, Lowell G. Sheflin, Jennifer B. Breen, Dian Yu, Jack M. Sullivan

Transl Vis Sci Technol. 2019 Nov; 8(6): 28. Published online 2019 Dec 12. doi: 10.1167/tvst.8.6.28

PMCID:: PMC6908138

Abstract Article PDF–3.4M

Select item 57711348.

A live cell assay of GPCR coupling allows identification of optogenetic tools for controlling Go and Gi signaling

Edward R. Ballister, Jessica Rodgers, Franck Martial, Robert J. Lucas

BMC Biol. 2018; 16: 10. Published online 2018 Jan 16. doi: 10.1186/s12915-017-0475-2

PMCID:: PMC5771134

Abstract Article PDF–2.0M

Select item 57042179.

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations

Adrian Dockery, Kirk Stephenson, David Keegan, Niamh Wynne, Giuliana Silvestri, Peter Humphries, Paul F. Kenna, Matthew Carrigan, G. Jane Farrar

Genes (Basel) 2017 Nov; 8(11): 304. Published online 2017 Nov 3. doi: 10.3390/genes8110304

PMCID:: PMC5704217

Abstract Article PDF–3.1M

Select item 566410610.

The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa

Jason Comander, Carol Weigel-DiFranco, Matthew Maher, Emily Place, Aliete Wan, Shyana Harper, Michael A. Sandberg, Daniel Navarro-Gomez, Eric A. Pierce

Genes (Basel) 2017 Oct; 8(10): 256. Published online 2017 Oct 5. doi: 10.3390/genes8100256

PMCID:: PMC5664106

Abstract Article PDF–4.9M

Select item 562591411.

Samd7 is a cell type-specific PRC1 component essential for establishing retinal rod photoreceptor identity

Yoshihiro Omori, Shun Kubo, Tetsuo Kon, Mayu Furuhashi, Hirotaka Narita, Taro Kominami, Akiko Ueno, Ryotaro Tsutsumi, Taro Chaya, Haruka Yamamoto, Isao Suetake, Shinji Ueno, Haruhiko Koseki, Atsushi Nakagawa, Takahisa Furukawa

Proc Natl Acad Sci U S A. 2017 Sep 26; 114(39): E8264–E8273. Published online 2017 Sep 12. doi: 10.1073/pnas.1707021114

PMCID:: PMC5625914

Abstract Article PDF–1.7M

Select item 557158412.

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

Xinjing Wang, Wadih M. Zein, Leera D’Souza, Chimere Roberson, Keith Wetherby, Hong He, Angela Villarta, Amy Turriff, Kory R. Johnson, Yang C. Fann

BMC Ophthalmol. 2017; 17: 157. Published online 2017 Aug 24. doi: 10.1186/s12886-017-0549-5

PMCID:: PMC5571584

Abstract Article PDF–2.1M

Select item 522682313.

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P. Leroy, Elfride De Baere

PLoS One. 2017; 12(1): e0170038. Published online 2017 Jan 11. doi: 10.1371/journal.pone.0170038

PMCID:: PMC5226823

Abstract Article PDF–2.4M

Select item 509588514.

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

Charlotte Reiff, Marta Owczarek-Lipska, Georg Spital, Carsten Röger, Hebke Hinz, Christoph Jüschke, Holger Thiele, Janine Altmüller, Peter Nürnberg, Romain Da Costa, John Neidhardt

Sci Rep. 2016; 6: 36208. Published online 2016 Nov 4. doi: 10.1038/srep36208

PMCID:: PMC5095885

Abstract Article PDF–1.8M

Select item 505409815.

Gene Expression Profiling of Human Epidermal Keratinocytes in Simulated Microgravity and Recovery Cultures

Jade Q. Clement, Shareen M. Lacy, Bobby L. Wilson

Genomics Proteomics Bioinformatics. 2008; 6(1): 8–28. Published online 2008 Jun 14. doi: 10.1016/S1672-0229(08)60017-0

PMCID:: PMC5054098

Abstract Article PDF–1.0M

Select item 502193516.

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

Matthew Carrigan, Emma Duignan, Conor P. G. Malone, Kirk Stephenson, Tahira Saad, Ciara McDermott, Andrew Green, David Keegan, Peter Humphries, Paul F. Kenna, G. Jane Farrar

Sci Rep. 2016; 6: 33248. Published online 2016 Sep 14. doi: 10.1038/srep33248

PMCID:: PMC5021935

Abstract Article PDF–844K

Select item 501170617.

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands

Qi Zhang, Mingchu Xu, Jennifer D. Verriotto, Yumei Li, Hui Wang, Lin Gan, Byron L. Lam, Rui Chen

Sci Rep. 2016; 6: 32792. Published online 2016 Sep 6. doi: 10.1038/srep32792

PMCID:: PMC5011706

Abstract Article PDF–906K

Select item 500808518.

The Evolutionary Histories of Antiretroviral Proteins SERINC3 and SERINC5 Do Not Support an Evolutionary Arms Race in Primates

Ben Murrell, Thomas Vollbrecht, John Guatelli, Joel O. Wertheim

J Virol. 2016 Sep 15; 90(18): 8085–8089. Prepublished online 2016 Jun 29. Published online 2016 Aug 26. doi: 10.1128/JVI.00972-16

PMCID:: PMC5008085

Abstract Article PDF–974K

Select item 493841619.

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Amit Tiwari, Johannes Lemke, Janine Altmueller, Holger Thiele, Esther Glaus, Johannes Fleischhauer, Peter Nürnberg, John Neidhardt, Wolfgang Berger

PLoS One. 2016; 11(7): e0158692. Published online 2016 Jul 8. doi: 10.1371/journal.pone.0158692

PMCID:: PMC4938416

Abstract Article PDF–4.5M

Select item 475805720.

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

Kristof Van Schil, Marcus Karlstetter, Alexander Aslanidis, Katharina Dannhausen, Maleeha Azam, Raheel Qamar, Bart P. Leroy, Fanny Depasse, Thomas Langmann, Elfride De Baere

Sci Rep. 2016; 6: 21307. Published online 2016 Feb 18. doi: 10.1038/srep21307

PMCID:: PMC4758057

Abstract Article PDF–1.0M

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