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Items: 1 to 20 of 31

1.
The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts
Venkata Pulla Rao Vendra, Christian Ostrowski, Rebecca Clark, Marzena Dyba, Sergey G. Tarasov, J. Fielding Hejtmancik
Biochemistry. Author manuscript; available in PMC 2024 Jan 1.
Published in final edited form as: Biochemistry. 2023 Jun 20; 62(12): 1864–1877. Published online 2023 May 15. doi: 10.1021/acs.biochem.2c00628
PMCID:
PMC10758276
AbstractArticlePDF–1.6M
2.
Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia
Yu Peng, Yu Zheng, Zifeng Deng, Shuju Zhang, Yilan Tan, Zhengmao Hu, Lijuan Tao, Yulin Luo
Front Genet. 2022; 13: 866246. Published online 2022 May 27. doi: 10.3389/fgene.2022.866246
PMCID:
PMC9198712
AbstractArticlePDF–969K
3.
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
4.
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
5.
Spindle assembly checkpoint inhibition can resensitize p53-null stem cells to cancer chemotherapy
Changlong Liu, Carolyn E. Banister, Phillip J. Buckhaults
Cancer Res. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: Cancer Res. 2019 May 1; 79(9): 2392–2403. Published online 2019 Mar 12. doi: 10.1158/0008-5472.CAN-18-3024
PMCID:
PMC6497569
AbstractArticlePDF–2.2M
6.
Endogenous Cell Type-Specific DISC1 Interactomes Reveal Protein Networks Associated to Neurodevelopmental Disorders
Brent Wilkinson, Oleg Evgrafov, DongQing Zheng, Nicolas Hartel, James A. Knowles, Nicholas A. Graham, Justin Ichida, Marcelo P. Coba
Biol Psychiatry. Author manuscript; available in PMC 2020 Feb 15.
Published in final edited form as: Biol Psychiatry. 2019 Feb 15; 85(4): 305–316. Published online 2018 May 23. doi: 10.1016/j.biopsych.2018.05.009
PMCID:
PMC6251761
AbstractArticlePDF–1.6M
7.
Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities
Zixi Sun, Qi Zhou, Huajin Li, Lizhu Yang, Shijing Wu, Ruifang Sui
Mol Vis. 2017; 23: 977–986. Published online 2017 Dec 24.
PMCID:
PMC5757854
AbstractArticlePDF–1.7M
8.
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
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
9.
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
Zilin Zhong, Zehua Wu, Liyun Han, Jianjun Chen
Sci Rep. 2017; 7: 189. Published online 2017 Mar 15. doi: 10.1038/s41598-017-00318-1
PMCID:
PMC5428270
AbstractArticlePDF–2.3M
10.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
11.
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1
Ivan Prokudin, Cas Simons, John R Grigg, Rebecca Storen, Vikrant Kumar, Zai Y Phua, James Smith, Maree Flaherty, Sonia Davila, Robyn V Jamieson
Eur J Hum Genet. 2014 Jul; 22(7): 907–915. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.268
PMCID:
PMC4060118
AbstractArticlePDF–648K
12.
Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing
Yukiko Kondo, Hirotomo Saitsu, Toshinobu Miyamoto, Byung Joo Lee, Kiyomi Nishiyama, Mitsuko Nakashima, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Jeong Hun Kim, Young Suk Yu, Naomichi Matsumoto
Mol Vis. 2013; 19: 384–389. Published online 2013 Feb 18.
PMCID:
PMC3580970
AbstractArticlePDF–933K
13.
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree
Yuanyuan Guo, Dongmei Su, Qian Li, Zhenfei Yang, Zicheng Ma, Xu Ma, Siquan Zhu
Mol Vis. 2012; 18: 1874–1880. Published online 2012 Jul 11.
PMCID:
PMC3413427
AbstractArticlePDF–616K
14.
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
15.
Overexpression of Human γC-crystallin 5 bp Duplication Disrupts Lens Morphology in Transgenic Mice
Zhiwei Ma, Wenliang Yao, Veena Theendakara, Chi-Chao Chan, Eric Wawrousek, J. Fielding Hejtmancik
Invest Ophthalmol Vis Sci. 2011 Jul; 52(8): 5369–5375. Published online 2011 Jul 21. doi: 10.1167/iovs.11-7168
PMCID:
PMC3176079
AbstractArticlePDF–1.7M
16.
Partially Folded Aggregation Intermediates of Human γD-, γC- and γS-Crystallin Are Recognized and Bound by Human αB-crystallin Chaperone
Ligia Acosta-Sampson, Jonathan King
J Mol Biol. Author manuscript; available in PMC 2011 Aug 6.
Published in final edited form as: J Mol Biol. 2010 Aug 6; 401(1): 134–152. Published online 2010 Jun 1. doi: 10.1016/j.jmb.2010.05.067
PMCID:
PMC3072757
AbstractArticlePDF–1.3M
17.
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract
Manoj Kumar, Tushar Agarwal, Sudarshan Khokhar, Manoj Kumar, Punit Kaur, Tara Sankar Roy, Rima Dada
Mol Vis. 2011; 17: 693–707. Published online 2011 Mar 11.
PMCID:
PMC3060158
AbstractArticlePDF–1.4M
18.
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
Alessandro Santana, Mauro Waiswol, Enyr Saran Arcieri, José Paulo Cabral de Vasconcellos, Mônica Barbosa de Melo
Mol Vis. 2009; 15: 793–800. Published online 2009 Apr 17.
PMCID:
PMC2671581
AbstractArticlePDF–2.2M
19.
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
Lu Zhang, Songbin Fu, Yangshan Ou, Tingting Zhao, Yunjuan Su, Ping Liu
Mol Vis. 2009; 15: 276–282. Published online 2009 Feb 6.
PMCID:
PMC2635849
AbstractArticlePDF–5.4M
20.
Evaluation of three canine γ-crystallins (CRYGB, CRYGC, and CRYGS) as candidates for hereditary cataracts in the dachshund
Christina Müller, Anne Wöhlke, Ottmar Distl
Mol Vis. 2007; 13: 125–132. Published online 2007 Jan 31.
PMCID:
PMC2533037
AbstractArticlePDF–310K

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