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Select item 106650161.

ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims

Tylor R Lewis, Mustafa S Makia, Carson M Castillo, Ying Hao, Muayyad R Al-Ubaidi, Nikolai P Skiba, Shannon M Conley, Vadim Y Arshavsky, Muna I Naash

eLife. 2023; 12: RP89444. Published online 2023 Nov 22. doi: 10.7554/eLife.89444

PMCID:: PMC10665016

Abstract Article PDF–12M

Select item 96038602.

The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3

Laura Sánchez-Bellver, Andrea Férriz-Gordillo, Marc Carrillo-Pz, Laura Rabanal, Francesc R. Garcia-Gonzalo, Gemma Marfany

Int J Mol Sci. 2022 Oct; 23(20): 12527. Published online 2022 Oct 19. doi: 10.3390/ijms232012527

PMCID:: PMC9603860

Abstract Article PDF–3.4M

Select item 94511513.

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

Maéva Langouët, Christine Jolicoeur, Awais Javed, Pierre Mattar, Micah D. Gearhart, Stephen P. Daiger, Mette Bertelsen, Lisbeth Tranebjærg, Nanna D. Rendtorff, Karen Grønskov, Catherine Jespersgaard, Rui Chen, Zixi Sun, Hui Li, Najmeh Alirezaie, Jacek Majewski, Vivian J. Bardwell, Ruifang Sui, Robert K. Koenekoop, Michel Cayouette

Sci Adv. 2022 Sep; 8(36): eabh2868. Published online 2022 Sep 7. doi: 10.1126/sciadv.abh2868

PMCID:: PMC9451151

Abstract Article PDF–7.1M

Select item 78384184.

Absence of S100A4 in the mouse lens induces an aberrant retina-specific differentiation program and cataract

Rupalatha Maddala, Junyuan Gao, Richard T. Mathias, Tylor R. Lewis, Vadim Y. Arshavsky, Adriana Levine, Jonathan M. Backer, Anne R. Bresnick, Ponugoti V. Rao

Sci Rep. 2021; 11: 2203. Published online 2021 Jan 26. doi: 10.1038/s41598-021-81611-y

PMCID:: PMC7838418

Abstract Article PDF–6.5M

Select item 75305335.

ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease

Daniel Strayve, Mustafa S Makia, Mashal Kakakhel, Haarthi Sakthivel, Shannon M Conley, Muayyad R Al-Ubaidi, Muna I Naash

Hum Mol Genet. 2020 Aug 15; 29(16): 2708–2722. Published online 2020 Jul 27. doi: 10.1093/hmg/ddaa160

PMCID:: PMC7530533

Abstract Article PDF–2.6M

Select item 72270286.

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 70606707.

Foxn4 is a temporal identity factor conferring mid/late-early retinal competence and involved in retinal synaptogenesis

Shuting Liu, Xiaoning Liu, Shengguo Li, Xiuting Huang, Haohua Qian, Kangxin Jin, Mengqing Xiang

Proc Natl Acad Sci U S A. 2020 Mar 3; 117(9): 5016–5027. Published online 2020 Feb 18. doi: 10.1073/pnas.1918628117

PMCID:: PMC7060670

Abstract Article PDF–4.2M

Select item 68857418.

Cul3‐Klhl18 ubiquitin ligase modulates rod transducin translocation during light‐dark adaptation

Taro Chaya, Ryotaro Tsutsumi, Leah Rie Varner, Yamato Maeda, Satoyo Yoshida, Takahisa Furukawa

EMBO J. 2019 Dec 2; 38(23): e101409. Published online 2019 Nov 7. doi: 10.15252/embj.2018101409

PMCID:: PMC6885741

Abstract Article PDF–5.2M

Select item 67257829.

Function of Atypical Protein Kinase C λ in Differentiating Photoreceptors Is Required for Proper Lamination of Mouse Retina

Chieko Koike, Akihiro Nishida, Kazunori Akimoto, Masa-aki Nakaya, Tetsuo Noda, Shigeo Ohno, Takahisa Furukawa

J Neurosci. 2005 Nov 2; 25(44): 10290–10298. doi: 10.1523/JNEUROSCI.3657-05.2005

PMCID:: PMC6725782

Abstract Article PDF–529K

Select item 633769510.

Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization

Shannon M Conley, Michael W Stuck, Jamie N Watson, Rahel Zulliger, Justin L Burnett, Muna I Naash

Hum Mol Genet. 2019 Feb 1; 28(3): 459–475. Published online 2018 Oct 10. doi: 10.1093/hmg/ddy359

PMCID:: PMC6337695

Abstract Article PDF–75M

Select item 614339411.

Requirements for Neurogenin2 during mouse postnatal retinal neurogenesis

Angelica M. Kowalchuk, Kate A. Maurer, Farnaz Shoja-Taheri, Nadean L. Brown

Dev Biol. Author manuscript; available in PMC 2019 Oct 15.

Published in final edited form as: Dev Biol. 2018 Oct 15; 442(2): 220–235. Published online 2018 Jul 24. doi: 10.1016/j.ydbio.2018.07.020

PMCID:: PMC6143394

Abstract Article PDF–1.3M

Select item 607560612.

Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa

Shannon M. Conley, Michael W. Stuck, Jamie N. Watson, Muna I. Naash

Hum Mol Genet. 2017 Feb 1; 26(3): 509–518. Published online 2017 Jan 4. doi: 10.1093/hmg/ddw408

PMCID:: PMC6075606

Abstract Article PDF–1.2M

Select item 464603213.

Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex Formation

Michael W. Stuck, Shannon M. Conley, Muna I. Naash

J Biol Chem. 2015 Nov 13; 290(46): 27901–27913. Published online 2015 Sep 29. doi: 10.1074/jbc.M115.683698

PMCID:: PMC4646032

Abstract Article PDF–4.1M

Select item 458337214.

SNAREs Interact with Retinal Degeneration Slow and Rod Outer Segment Membrane Protein-1 during Conventional and Unconventional Outer Segment Targeting

Rahel Zulliger, Shannon M. Conley, Maggie L. Mwoyosvi, Michael W. Stuck, Seifollah Azadi, Muna I. Naash

PLoS One. 2015; 10(9): e0138508. Published online 2015 Sep 25. doi: 10.1371/journal.pone.0138508

PMCID:: PMC4583372

Abstract Article PDF–16M

Select item 317805915.

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 301246616.

Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival

Yoshihiro Omori, Taro Chaya, Kimiko Katoh, Naoko Kajimura, Shigeru Sato, Koichiro Muraoka, Shinji Ueno, Toshiyuki Koyasu, Mineo Kondo, Takahisa Furukawa

Proc Natl Acad Sci U S A. 2010 Dec 28; 107(52): 22671–22676. Published online 2010 Dec 8. doi: 10.1073/pnas.1009437108

PMCID:: PMC3012466

Abstract Article PDF–1.3M

Select item 293756917.

Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the RDS gene

Shannon M. Conley, Heidi M. Stricker, Muna I. Naash

Biochemistry. Author manuscript; available in PMC 2011 Feb 9.

Published in final edited form as: Biochemistry. 2010 Feb 9; 49(5): 905–911. doi: 10.1021/bi901622w

PMCID:: PMC2937569

Abstract Article PDF–723K

Select item 292380418.

Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1

Jennifer E. Westfall, Carlton Hoyt, Qin Liu, Yi-Chun Hsiao, Eric A. Pierce, Patrick S. Page-McCaw, Russell J. Ferland

J Neurosci. 2010 Jun 30; 30(26): 8759–8768. doi: 10.1523/JNEUROSCI.5229-09.2010

PMCID:: PMC2923804

Abstract Article PDF–3.8M

Select item 286291119.

Alms1-disrupted mice recapitulate human Alström syndrome

G.B. Collin, E. Cyr, R. Bronson, J.D. Marshall, E.J. Gifford, W. Hicks, S.A. Murray, Q.Y. Zheng, R.S. Smith, P.M. Nishina, J.K. Naggert

Hum Mol Genet. Author manuscript; available in PMC 2010 May 4.

Published in final edited form as: Hum Mol Genet. 2005 Aug 15; 14(16): 2323–2333. Published online 2005 Jul 6. doi: 10.1093/hmg/ddi235

PMCID:: PMC2862911

Abstract Article PDF–3.2M

Select item 283873620.

A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice

Hajime Sato, Tomohiro Suzuki, Kyoko Ikeda, Hiroshi Masuya, Hideki Sezutsu, Hideki Kaneda, Kimio Kobayashi, Ikuo Miura, Yasuyuki Kurihara, Shunji Yokokura, Kohji Nishida, Makoto Tamai, Yoichi Gondo, Tetsuo Noda, Shigeharu Wakana

Mol Vis. 2010; 16: 378–391. Published online 2010 Mar 10.