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Select item 48287211.

Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy

Xue Chen, Xunlun Sheng, Xiantao Sun, Yuxin Zhang, Chao Jiang, Huiping Li, Sijia Ding, Yani Liu, Wenzhou Liu, Zili Li, Chen Zhao

Sci Rep. 2016; 6: 24357. Published online 2016 Apr 12. doi: 10.1038/srep24357

PMCID:: PMC4828721

Article PDF–913K

Select item 43379592.

Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

Donna S. Mackay, Arundhati Dev Borman, Ruifang Sui, L. Ingeborgh van den Born, Eliot L. Berson, Louise A. Ocaka, Alice E. Davidson, John R. Heckenlively, Kari Branham, Huanan Ren, Irma Lopez, Maleeha Maria, Maleeha Azam, Arjen Henkes, Ellen Blokland, Raheel Qamar, Andrew R. Webster, Frans P.M. Cremers, Anthony T. Moore, Robert K. Koenekoop, [LCA5 Study Group (see acknowledgements for Universities), Sten Andreasson, Elfride de Baere, Jean Bennett, Gerald J. Chader, Wolfgang Berger, Irina Golovleva, Jacquie Greenberg, Anneke I. den Hollander, Caroline C.W. Klaver, B. Jeroen Klevering, Birgit Lorenz, Markus N. Preising, Raj Ramsear, Lisa Roberts, Ronald Roepman, Klaus Rohrschneider, Bernd Wissinger

Hum Mutat. Author manuscript; available in PMC 2015 Feb 23.

Published in final edited form as: Hum Mutat. 2013 Nov; 34(11): 1537–1546. Published online 2013 Sep 17. doi: 10.1002/humu.22398

Correction in:: volume 35 on page 149

PMCID:: PMC4337959

Article PDF–1.7M

Select item 31541263.

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

Adeel Ahmad, Shakeela Daud, Naseebullah Kakar, Gudrun Nürnberg, Peter Nürnberg, Masroor Ellahi Babar, Michaela Thoenes, Christian Kubisch, Jamil Ahmad, Hanno Jörn Bolz

Mol Vis. 2011; 17: 1940–1945. Published online 2011 Jul 16.

PMCID:: PMC3154126

Article PDF–1.6M

Select item 26909554.

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization

Samuel G. Jacobson, Tomas S. Aleman, Artur V. Cideciyan, Alexander Sumaroka, Sharon B. Schwartz, Elizabeth A.M. Windsor, Malgorzata Swider, Waldo Herrera, Edwin M. Stone

Mol Vis. 2009; 15: 1098–1106. Published online 2009 Jun 2.

PMCID:: PMC2690955

Article PDF–2.3M

Select item 22688505.

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

Vedam Lakshmi Ramprasad, Nagasamy Soumittra, Derek Nancarrow, Parveen Sen, Martin McKibbin, Grange A Williams, Tharigopala Arokiasamy, Praveena Lakshmipathy, Chris F Inglehearn, Govindasamy Kumaramanickavel

Mol Vis. 2008; 14: 481–486. Published online 2008 Mar 10.

PMCID:: PMC2268850

Article PDF–5.0M

Select item 17716226.

Progession of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus

M D Mohamed, N C Topping, H Jafri, Y Raashed, M A McKibbin, C F Inglehearn

Br J Ophthalmol. 2003 Apr; 87(4): 473–475. doi: 10.1136/bjo.87.4.473

PMCID:: PMC1771622

Article PDF–139K

Select item 12883377.

A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6q

Sharola Dharmaraj, Yingying Li, Johane M. Robitaille, Eduardo Silva, Danping Zhu, Thomas N. Mitchell, Lara P. Maltby, Agnes B. Baffoe-Bonnie, Irene H. Maumenee

Am J Hum Genet. 2000 Jan; 66(1): 319–326. doi: 10.1086/302719

PMCID:: PMC1288337

Article PDF–677K

Select item 31047578.

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Karsten Boldt, Dorus A. Mans, Jungyeon Won, Jeroen van Reeuwijk, Andreas Vogt, Norbert Kinkl, Stef J.F. Letteboer, Wanda L. Hicks, Ron E. Hurd, Jürgen K. Naggert, Yves Texier, Anneke I. den Hollander, Robert K. Koenekoop, Jean Bennett, Frans P.M. Cremers, Christian J. Gloeckner, Patsy M. Nishina, Ronald Roepman, Marius Ueffing

J Clin Invest. 2011 Jun 1; 121(6): 2169–2180. Published online 2011 May 23. doi: 10.1172/JCI45627

PMCID:: PMC3104757

Article PDF–7.1M

Select item 27565579.

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock H. Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin-Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer

Am J Hum Genet. 2009 Oct 9; 85(4): 465–481. doi: 10.1016/j.ajhg.2009.09.002

PMCID:: PMC2756557

Article PDF–2.7M

Select item 412940110.

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Susanne Roosing, Ideke J.C. Lamers, Erik de Vrieze, L. Ingeborgh van den Born, Stanley Lambertus, Heleen H. Arts, POC1B Study Group, Theo A. Peters, Carel B. Hoyng, Hannie Kremer, Lisette Hetterschijt, Stef J.F. Letteboer, Erwin van Wijk, Ronald Roepman, Anneke I. den Hollander, Frans P.M. Cremers

Am J Hum Genet. 2014 Aug 7; 95(2): 131–142. doi: 10.1016/j.ajhg.2014.06.012

PMCID:: PMC4129401

Article PDF–2.3M

Select item 359570811.

Genome-Wide Association Study of Antiphospholipid Antibodies

M. Ilyas Kamboh, Xingbin Wang, Amy H. Kao, Michael M. Barmada, Ann Clarke, Rosalind Ramsey-Goldman, Susan Manzi, F. Yesim Demirci

Autoimmune Dis. 2013; 2013: 761046. Published online 2013 Feb 24. doi: 10.1155/2013/761046

PMCID:: PMC3595708

Article PDF–1.5M

Select item 985197312.

A comprehensive SARS-CoV-2–human protein–protein interactome reveals COVID-19 pathobiology and potential host therapeutic targets

Yadi Zhou, Yuan Liu, Shagun Gupta, Mauricio I. Paramo, Yuan Hou, Chengsheng Mao, Yuan Luo, Julius Judd, Shayne Wierbowski, Marta Bertolotti, Mriganka Nerkar, Lara Jehi, Nir Drayman, Vlad Nicolaescu, Haley Gula, Savaş Tay, Glenn Randall, Peihui Wang, John T. Lis, Cédric Feschotte, Serpil C. Erzurum, Feixiong Cheng, Haiyuan Yu

Nat Biotechnol. Author manuscript; available in PMC 2023 Jan 20.

Published in final edited form as: Nat Biotechnol. 2023 Jan; 41(1): 128–139. Published online 2022 Oct 10. doi: 10.1038/s41587-022-01474-0

PMCID:: PMC9851973

Article PDF–4.0M

Select item 552513313.

Prohibitin 1 regulates tumor cell apoptosis via the interaction with X-linked inhibitor of apoptosis protein

Yingjie Xu, Wen Yang, Jinjun Shi, Bruce R. Zetter

J Mol Cell Biol. 2016 Jun; 8(3): 282–285. Published online 2016 Jul 7. doi: 10.1093/jmcb/mjw018

PMCID:: PMC5525133

Article PDF–1.9M

Select item 553358514.

The human cytoplasmic dynein interactome reveals novel activators of motility

William B Redwine, Morgan E DeSantis, Ian Hollyer, Zaw Min Htet, Phuoc Tien Tran, Selene K Swanson, Laurence Florens, Michael P Washburn, Samara L Reck-Peterson

eLife. 2017; 6: e28257. Published online 2017 Jul 18. doi: 10.7554/eLife.28257

PMCID:: PMC5533585

Article PDF–5.9M

Select item 486917015.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Article PDF–2.0M

Select item 508937416.

A dynamic protein interaction landscape of the human centrosome-cilium interface

Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier

Cell. Author manuscript; available in PMC 2016 Dec 3.

Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065

PMCID:: PMC5089374

Article PDF–1.5M

Select item 426658817.

A proteome-scale map of the human interactome network

Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal

Cell. Author manuscript; available in PMC 2015 Nov 20.

Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050

PMCID:: PMC4266588

Article PDF–3.1M

Select item 911973618.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Article PDF–3.3M

Select item 716998319.

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

Article PDF–5.4M

Select item 553161120.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366