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Items: 20

1.
Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium
Janet R. Sparrow, Rait Parmann, Stephen H. Tsang, Rando Allikmets, Stanley Chang, Ruben Jauregui
Invest Ophthalmol Vis Sci. 2021 Jun; 62(7): 15. Published online 2021 Jun 11. doi: 10.1167/iovs.62.7.15
PMCID:
PMC8196415
AbstractArticlePDF–1.8M
2.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
3.
Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees
Muawyah Al-Bdour, Svenja Pauleck, Zain Dardas, Raghda Barham, Dema Ali, Sami Amr, Lina Mustafa, Mohammed Abu-Ameerh, Ranad Maswadi, Belal Azab, Abdalla Awidi
Mol Vis. 2020; 26: 445–458. Published online 2020 Jun 19.
PMCID:
PMC7305691
AbstractArticlePDF–1.7M
4.
Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice
Jose Ronaldo Lima de Carvalho, Jr., Hye Jin Kim, Keiko Ueda, Jin Zhao, Aaron P. Owji, Tingting Yang, Stephen H. Tsang, Janet R. Sparrow
J Biol Chem. 2020 May 8; 295(19): 6767–6780. Published online 2020 Mar 18. doi: 10.1074/jbc.RA120.012695
PMCID:
PMC7212638
AbstractArticlePDF–4.0M
5.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
6.
Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1
Patrice J. Persad, Iris M. Heid, Daniel E. Weeks, Paul N. Baird, Eiko K. de Jong, Jonathan L. Haines, Margaret A. Pericak-Vance, William K. Scott, for the International Age-Related Macular Degeneration Genomics Consortium (IAMDGC)
Invest Ophthalmol Vis Sci. 2017 Aug; 58(10): 4027–4038. doi: 10.1167/iovs.17-21734
PMCID:
PMC5559178
AbstractArticlePDF–1.1M
7.
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens
Concetta Scimone, Luigi Donato, Teresa Esposito, Carmela Rinaldi, Rosalia D’Angelo, Antonina Sidoti
Hum Genomics. 2017; 11: 18. Published online 2017 Aug 1. doi: 10.1186/s40246-017-0114-6
PMCID:
PMC5540190
AbstractArticlePDF–1.0M
8.
Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2
Jason M. Arne, Made Airanthi K. Widjaja-Adhi, Taylor Hughes, Kevin W. Huynh, Josie A. Silvaroli, Sylwia Chelstowska, Vera Y. Moiseenkova-Bell, Marcin Golczak
J Lipid Res. 2017 Apr; 58(4): 719–730. Published online 2017 Mar 29. doi: 10.1194/jlr.M073692
PMCID:
PMC5392747
AbstractArticlePDF–1.2M
9.
Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium
Bin Wen, Shuang Li, Huirong Li, Yu Chen, Xiaoyin Ma, Jing Wang, Fan Lu, Jia Qu, Ling Hou
Sci Rep. 2016; 6: 21208. Published online 2016 Feb 15. doi: 10.1038/srep21208
PMCID:
PMC4753414
AbstractArticlePDF–1.6M
10.
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families
Shagufta Naz, Shahbaz Ali, S Amer Riazuddin, Tahir Farooq, Nadeem H Butt, Ahmad U Zafar, Shaheen N Khan, Tayyab Husnain, Ian M MacDonald, Paul A Sieving, J Fielding Hejtmancik, Sheikh Riazuddin
Br J Ophthalmol. Author manuscript; available in PMC 2012 Sep 27.
Published in final edited form as: Br J Ophthalmol. 2011 Jul; 95(7): 1019–1024. Published online 2011 Mar 28. doi: 10.1136/bjo.2010.189076
PMCID:
PMC3459316
AbstractArticlePDF–1.4M
11.
Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826
AbstractArticlePDF–5.7M
12.
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
13.
Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W
Xiaoqin He, Joel Lobsiger, Achim Stocker
Proc Natl Acad Sci U S A. 2009 Nov 3; 106(44): 18545–18550. Published online 2009 Oct 21. doi: 10.1073/pnas.0907454106
PMCID:
PMC2774026
AbstractArticlePDF–1.7M
14.
Biochemical Properties of Purified Human Retinol Dehydrogenase 12 (RDH12): Catalytic Efficiency toward Retinoids and C9 Aldehydes and Effects of Cellular Retinol-Binding Protein Type I (CRBPI) and Cellular Retinaldehyde-Binding Protein (CRALBP) on the Oxidation and Reduction of Retinoids
Olga V. Belyaeva, Olga V. Korkina, Anton V. Stetsenko, Tom Kim, Peter S. Nelson, Natalia Y. Kedishvili
Biochemistry. Author manuscript; available in PMC 2009 May 8.
Published in final edited form as: Biochemistry. 2005 May 10; 44(18): 7035–7047. doi: 10.1021/bi050226k
PMCID:
PMC2679700
AbstractArticlePDF–1.8M
15.
CRALBP is a Highly Prevalent Autoantigen for Human Autoimmune Uveitis
Cornelia A. Deeg, Albert J. Raith, Barbara Amann, John W. Crabb, Stephan R. Thurau, Stefanie M. Hauck, Marius Ueffing, Gerhild Wildner, Manfred Stangassinger
Clin Dev Immunol. 2007; 2007: 39245. Published online 2007 Nov 5. doi: 10.1155/2007/39245
PMCID:
PMC2246040
AbstractArticlePDF–3.0M
16.
Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein.
J. W. Crabb, A. Carlson, Y. Chen, S. Goldflam, R. Intres, K. A. West, J. D. Hulmes, J. T. Kapron, L. A. Luck, J. Horwitz, D. Bok
Protein Sci. 1998 Mar; 7(3): 746–757. doi: 10.1002/pro.5560070324
PMCID:
PMC2143945
SummaryPDF–1.0M
17.
Mapping of transcription start sites of human retina expressed genes
Valeria Roni, Ronald Carpio, Bernd Wissinger
BMC Genomics. 2007; 8: 42. Published online 2007 Feb 7. doi: 10.1186/1471-2164-8-42
PMCID:
PMC1802077
AbstractArticlePDF–578K
18.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
19.
Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
Erica R. Eichers, Jane S. Green, David W. Stockton, Christopher S. Jackman, James Whelan, J. Arch McNamara, Gordon J. Johnson, James R. Lupski, Nicholas Katsanis
Am J Hum Genet. 2002 Apr; 70(4): 955–964. Published online 2002 Feb 26. doi: 10.1086/339688
PMCID:
PMC379124
AbstractArticlePDF–737K
20.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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