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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 104561752.

Anterior chamber depth in mice is controlled by several quantitative trait loci

Demelza R. Larson, Allysa J. Kimber, Kacie J. Meyer, Michael G. Anderson

PLoS One. 2023; 18(8): e0286897. Published online 2023 Aug 25. doi: 10.1371/journal.pone.0286897

PMCID:: PMC10456175

Abstract Article PDF–1.1M

Select item 101212243.

Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects

Holly Y Chen, Manju Swaroop, Samantha Papal, Anupam K Mondal, Hyun Beom Song, Laura Campello, Gregory J Tawa, Florian Regent, Hiroko Shimada, Kunio Nagashima, Natalia de Val, Samuel G Jacobson, Wei Zheng, Anand Swaroop

eLife. 2023; 12: e83205. Published online 2023 Mar 28. doi: 10.7554/eLife.83205

PMCID:: PMC10121224

Abstract Article PDF–4.5M

Select item 85649004.

Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290

Valencia L. Potter, Abigail R. Moye, Michael A. Robichaux, Theodore G. Wensel

JCI Insight. 2021 Oct 22; 6(20): e145256. Published online 2021 Oct 22. doi: 10.1172/jci.insight.145256

PMCID:: PMC8564900

Abstract Article PDF–3.1M

Select item 82538595.

Tribbles homolog 3-mediated targeting the AKT/mTOR axis in mice with retinal degeneration

Irina V. Saltykova, Asif Elahi, Priyam M. Pitale, Oleg S. Gorbatyuk, Mohammad Athar, Marina S. Gorbatyuk

Cell Death Dis. 2021 Jul; 12(7): 664. Published online 2021 Jul 2. doi: 10.1038/s41419-021-03944-w

PMCID:: PMC8253859

Abstract Article PDF–4.1M

Select item 81085176.

Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone

Antonia Wiegering, Renate Dildrop, Christine Vesque, Hemant Khanna, Sylvie Schneider-Maunoury, Christoph Gerhardt

Mol Biol Cell. 2021 Apr 15; 32(8): 675–689. doi: 10.1091/mbc.E20-03-0190

PMCID:: PMC8108517

Abstract Article PDF–6.1M

Select item 81044077.

Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenance

Poppy Datta, J. Thomas Cribbs, Seongjin Seo

PLoS One. 2021; 16(5): e0246358. Published online 2021 May 7. doi: 10.1371/journal.pone.0246358

PMCID:: PMC8104407

Abstract Article PDF–2.2M

Select item 79387708.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 72270289.

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs

Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931

PMCID:: PMC7227028

Abstract Article PDF–5.4M

Select item 696953210.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Simon A. Ramsbottom, Peter E. Thelwall, Katrina M. Wood, Gavin J. Clowry, Laura A. Devlin, Flora Silbermann, Helena L. Spiewak, Shirlee Shril, Elisa Molinari, Friedhelm Hildebrandt, Meral Gunay-Aygun, Sophie Saunier, Heather J. Cordell, John A. Sayer, Colin G. Miles

Proc Natl Acad Sci U S A. 2020 Jan 14; 117(2): 1113–1118. Published online 2019 Dec 26. doi: 10.1073/pnas.1912602117

PMCID:: PMC6969532

Abstract Article PDF–1.8M

Select item 691649211.

The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors

Poppy Datta, Brandon Hendrickson, Sarah Brendalen, Avri Ruffcorn, Seongjin Seo

J Biol Chem. 2019 Dec 13; 294(50): 19119–19136. Published online 2019 Nov 6. doi: 10.1074/jbc.RA119.009712

PMCID:: PMC6916492

Abstract Article PDF–5.5M

Select item 687133712.

Role of Translational Attenuation in Inherited Retinal Degeneration

Christopher R. Starr, Cyril N. A. Nyankerh, Xiaoping Qi, Yang Hu, Oleg S. Gorbatyuk, Nahum Sonenberg, Michael E. Boulton, Marina S. Gorbatyuk

Invest Ophthalmol Vis Sci. 2019 Nov; 60(14): 4849–4857. doi: 10.1167/iovs.19-27512

PMCID:: PMC6871337

Abstract Article PDF–960K

Select item 653868413.

Delineating the role of eIF2α in retinal degeneration

Christopher R. Starr, Marina S. Gorbatyuk

Cell Death Dis. 2019 Jun; 10(6): 409. Published online 2019 May 28. doi: 10.1038/s41419-019-1641-y

PMCID:: PMC6538684

Abstract Article PDF–1.6M

Select item 629810414.

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Simon A. Ramsbottom, Elisa Molinari, Shalabh Srivastava, Flora Silberman, Charline Henry, Sumaya Alkanderi, Laura A. Devlin, Kathryn White, David H. Steel, Sophie Saunier, Colin G. Miles, John A. Sayer

Proc Natl Acad Sci U S A. 2018 Dec 4; 115(49): 12489–12494. Published online 2018 Nov 16. doi: 10.1073/pnas.1809432115

PMCID:: PMC6298104

Abstract Article PDF–1.2M

Select item 624595015.

A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration

Suddhasil Mookherjee, Holly Yu Chen, Kevin Isgrig, Wenhan Yu, Suja Hiriyanna, Rivka Levron, Tiansen Li, Peter Colosi, Wade Chien, Anand Swaroop, Zhijian Wu

Cell Rep. Author manuscript; available in PMC 2018 Nov 20.

Published in final edited form as: Cell Rep. 2018 Oct 16; 25(3): 611–623.e6. doi: 10.1016/j.celrep.2018.09.043

PMCID:: PMC6245950

Article PDF–1.5M

Select item 608092516.

SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium

Rachayata Dharmat, Aiden Eblimit, Michael A. Robichaux, Zhixian Zhang, Thanh-Minh T. Nguyen, Sung Yun Jung, Feng He, Antrix Jain, Yumei Li, Jun Qin, Paul Overbeek, Ronald Roepman, Graeme Mardon, Theodore G. Wensel, Rui Chen

J Cell Biol. 2018 Aug 6; 217(8): 2851–2865. doi: 10.1083/jcb.201712117