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Items: 13

1.
Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency
Maureen Neitz, Elise D. Krekling, Lene A. Hagen, Hilde R. Pedersen, Jessica Rowlan, Rachel Barborek, Jay Neitz, Adam Crain, Rigmor C. Baraas
J Opt Soc Am A Opt Image Sci Vis. Author manuscript; available in PMC 2021 Apr 1.
Published in final edited form as: J Opt Soc Am A Opt Image Sci Vis. 2020 Apr 1; 37(4): A26–A34. doi: 10.1364/JOSAA.381919
PMCID:
PMC7254067
ArticlePDF–1.3M
2.
Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities
Rigmor C. Baraas, Lene A. Hagen, Elise W. Dees, Maureen Neitz
Vision Res. Author manuscript; available in PMC 2013 Nov 15.
Published in final edited form as: Vision Res. 2012 Nov 15; 73: 1–9. Published online 2012 Sep 26. doi: 10.1016/j.visres.2012.09.007
PMCID:
PMC3516400
AbstractArticlePDF–2.6M
3.
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
C J Weitz, Y Miyake, K Shinzato, E Montag, E Zrenner, L N Went, J Nathans
Am J Hum Genet. 1992 Mar; 50(3): 498–507.
PMCID:
PMC1684278
SummaryPage BrowsePDF–2.3M
4.
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.
C J Weitz, L N Went, J Nathans
Am J Hum Genet. 1992 Aug; 51(2): 444–446.
PMCID:
PMC1682686
SummaryPage BrowsePDF–626K
5.
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
AbstractArticlePDF–715K
6.
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
AbstractArticlePDF–1.6M
7.
Opsin3 Downregulation Induces Apoptosis of Human Epidermal Melanocytes via Mitochondrial Pathway
Yu Wang, Yinghua Lan, Hongguang Lu
Photochem Photobiol. 2020 Jan-Feb; 96(1): 83–93. Published online 2020 Jan 10. doi: 10.1111/php.13178
PMCID:
PMC7004086
AbstractArticlePDF–4.2M
8.
Opsin 3 is a key regulator of ultraviolet A‐induced photoageing in human dermal fibroblast cells
Y. Lan, Y. Wang, H. Lu
Br J Dermatol. 2020 May; 182(5): 1228–1244. Published online 2019 Oct 20. doi: 10.1111/bjd.18410
PMCID:
PMC7318274
AbstractArticlePDF–4.8M
9.
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances
Ghazaleh Fatemifar, Clive J. Hoggart, Lavinia Paternoster, John P. Kemp, Inga Prokopenko, Momoko Horikoshi, Victoria J. Wright, Jon H. Tobias, Stephen Richmond, Alexei I. Zhurov, Arshed M. Toma, Anneli Pouta, Anja Taanila, Kirsi Sipila, Raija Lähdesmäki, Demetris Pillas, Frank Geller, Bjarke Feenstra, Mads Melbye, Ellen A. Nohr, Susan M. Ring, Beate St Pourcain, Nicholas J. Timpson, George Davey Smith, Marjo-Riitta Jarvelin, David M. Evans
Hum Mol Genet. 2013 Sep 15; 22(18): 3807–3817. Published online 2013 May 23. doi: 10.1093/hmg/ddt231
PMCID:
PMC3749866
AbstractArticlePDF–277K
10.
Human Chromosome 7: DNA Sequence and Biology
Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, Simone Gentles, Constantine C. Christopoulos, Sanaa Choufani, Dorota Kwasnicka, Xiangqun H. Zheng, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Malgorzata J. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah R. Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H. Q. Heng, Pier Giuseppe Pelicci, Francesco Lo-Coco, Elena Belloni, Lisa G. Shaffer, Barbara Pober, Cynthia C. Morton, James F. Gusella, Gail A. P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung-Goo Kim, Anne M. Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, Elizabeth J. T. Winsor, Karl-Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Lluis Armengol, Miguel Angel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David G. Oscier, Sarah J. Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard J. Mural, Mark D. Adams, Lap-Chee Tsui
Science. Author manuscript; available in PMC 2010 Jun 9.
Published in final edited form as: Science. 2003 May 2; 300(5620): 767–772. Published online 2003 Apr 10. doi: 10.1126/science.1083423
PMCID:
PMC2882961
AbstractArticlePDF–1.2M
11.
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
12.
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
13.
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

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