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Items: 1 to 20 of 121

1.
Myocilin misfolding and glaucoma: a 20-year update
Emily G. Saccuzzo, Hannah A. Youngblood, Raquel L. Lieberman
Prog Retin Eye Res. Author manuscript; available in PMC 2024 Jul 1.
Published in final edited form as: Prog Retin Eye Res. 2023 Jul; 95: 101188. Published online 2023 May 20. doi: 10.1016/j.preteyeres.2023.101188
PMCID:
PMC10330797
AbstractArticlePDF–1.7M
2.
COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children
Sarah Abdul Majeed, Helene Dunzendorfer, Juliane Weiner, John T. Heiker, Wieland Kiess, Antje Körner, Kathrin Landgraf
Int J Mol Sci. 2023 Feb; 24(4): 3085. Published online 2023 Feb 4. doi: 10.3390/ijms24043085
PMCID:
PMC9964948
AbstractArticlePDF–4.5M
3.
Characteristics of Gln368Ter Myocilin variant and influence of polygenic risk on glaucoma penetrance in the UK Biobank
Nazlee Zebardast, Sayuri Sekimitsu, Jiali Wang, Tobias Elze, Puya Gharahkhani, Brian S. Cole, Michael M. Lin, Ayellet V. Segrè, Janey L. Wiggs
Ophthalmology. Author manuscript; available in PMC 2022 May 26.
Published in final edited form as: Ophthalmology. 2021 Sep; 128(9): 1300–1311. Published online 2021 Mar 10. doi: 10.1016/j.ophtha.2021.03.007
PMCID:
PMC9134646
AbstractArticlePDF–874K
4.
Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities
Tarin Tanji, Emily Cohen, Darrick Shen, Chi Zhang, Fei Yu, Anne L. Coleman, Jie J. Zheng
Genes (Basel) 2021 Nov; 12(11): 1802. Published online 2021 Nov 16. doi: 10.3390/genes12111802
PMCID:
PMC8623052
AbstractArticlePDF–890K
5.
Myocilin-associated Glaucoma: A Historical Perspective and Recent Research Progress
Ritika Sharma, Abhinav Grover
Mol Vis. 2021; 27: 480–493. Published online 2021 Aug 20.
PMCID:
PMC8403517
AbstractArticlePDF–770K
6.
Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population
Perttu J. Liuska, Susanna Lemmelä, Aki S. Havulinna, Kai Kaarniranta, Hannu Uusitalo, Hannele Laivuori, Tuomo Kiiskinen, Mark J. Daly, Aarno Palotie, Joni A. Turunen
JAMA Ophthalmol. 2021 Jul; 139(7): 1–7. Published online 2021 Jun 3. doi: 10.1001/jamaophthalmol.2021.1610
PMCID:
PMC8176385
AbstractArticle
7.
The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma
Viney Gupta, Bindu I. Somarajan, Shikha Gupta, Gagandeep Kaur Walia, Abhishek Singh, Rayees Sofi, Richard Sher Chaudhary, Arundhati Sharma
Eye (Lond) 2021 Feb; 35(2): 400–408. Published online 2020 Apr 16. doi: 10.1038/s41433-020-0850-z
PMCID:
PMC8027054
AbstractArticlePDF–969K
8.
Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin
Ramesh B. Kasetti, Prabhavathi Maddineni, Charles Kiehlbauch, Shruti Patil, Charles C. Searby, Beth Levine, Val C. Sheffield, Gulab S. Zode
JCI Insight. 2021 Mar 8; 6(5): e143359. Published online 2021 Mar 8. doi: 10.1172/jci.insight.143359
PMCID:
PMC8021112
AbstractArticlePDF–13M
9.
Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open-angle glaucoma
Wanlin Fan, Wan Li, Chaoye Duan, Wenbo Zhang, Yongwei Guo, Fei Chen
Mol Med Rep. 2020 Oct; 22(4): 3263–3270. Published online 2020 Aug 19. doi: 10.3892/mmr.2020.11441
PMCID:
PMC7453629
AbstractArticlePDF–960K
10.
Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells
Xuejing Yan, Shen Wu, Qian Liu, Yang Li, Wei Zhu, Jingxue Zhang
Mol Vis. 2020; 26: 563–573. Published online 2020 Jul 29.
PMCID:
PMC7406863
AbstractArticlePDF–6.6M
11.
Cross-talk between MYOC p. Y437H mutation and TGF-β2 in the pathology of glaucoma
Yang Yang, AL Sabri Waled Abdulghani Abdulatef, LuSi Zhang, Haibo Jiang, Zhou Zeng, Haibo Li, Xiaobo Xia
Int J Med Sci. 2020; 17(8): 1062–1070. Published online 2020 Apr 27. doi: 10.7150/ijms.43614
PMCID:
PMC7211149
AbstractArticlePDF–1.0M
12.
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
13.
Differential misfolding properties of glaucoma-associated olfactomedin domains from human and mouse
Athéna C. Patterson-Orazem, Shannon E. Hill, Yiming Wang, Iramofu M. Dominic, Carol K. Hall, Raquel L. Lieberman
Biochemistry. Author manuscript; available in PMC 2020 Apr 2.
Published in final edited form as: Biochemistry. 2019 Apr 2; 58(13): 1718–1727. Published online 2019 Mar 12. doi: 10.1021/acs.biochem.8b01309
PMCID:
PMC6815101
AbstractArticlePDF–1.7M
14.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M
15.
Myocilin Mutations in Patients With Normal-Tension Glaucoma
Wallace L. M. Alward, Carly van der Heide, Cheryl L. Khanna, Ben R. Roos, Sobha Sivaprasad, Jason Kam, Robert Ritch, Andrew Lotery, Robert P. Igo, Jr, Jessica N. Cooke Bailey, Edwin M. Stone, Todd E. Scheetz, Young H. Kwon, Louis R. Pasquale, Janey L. Wiggs, John H. Fingert
JAMA Ophthalmol. 2019 May; 137(5): 559–563. Published online 2019 Feb 28. doi: 10.1001/jamaophthalmol.2019.0005
PMCID:
PMC6512256
AbstractArticle
16.
Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies
Xikun Han, Emmanuelle Souzeau, Jue-Sheng Ong, Jiyuan An, Owen M. Siggs, Kathryn P. Burdon, Stephen Best, Ivan Goldberg, Paul R. Healey, Stuart L. Graham, Jonathan B. Ruddle, Richard A. Mills, John Landers, Anna Galanopoulos, Andrew J.R. White, Robert Casson, David A. Mackey, Alex W. Hewitt, Puya Gharahkhani, Jamie E. Craig, Stuart MacGregor
JAMA Ophthalmol. 2019 Jan; 137(1): 28–35. Published online 2018 Sep 27. doi: 10.1001/jamaophthalmol.2018.4477
PMCID:
PMC6439786
AbstractArticle
17.
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients
Luke O’Gorman, Angela J. Cree, Daniel Ward, Helen L. Griffiths, Roshan Sood, Alastair K. Denniston, Jay E. Self, Sarah Ennis, Andrew J. Lotery, Jane Gibson
Sci Rep. 2019; 9: 3100. Published online 2019 Feb 28. doi: 10.1038/s41598-019-38760-y
PMCID:
PMC6395666
AbstractArticlePDF–1.9M
18.
Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cells
Jeffrey M. Lynch, Bing Li, Parvaneh Katoli, Chuanxi Xiang, Barrett Leehy, Nalini Rangaswamy, Veronica Saenz-Vash, Y. Karen Wang, Hong Lei, Thomas B. Nicholson, Erik Meredith, Dennis S. Rice, Ganesh Prasanna, Amy Chen
J Biol Chem. 2018 Dec 28; 293(52): 20137–20156. Published online 2018 Nov 2. doi: 10.1074/jbc.RA118.004325
PMCID:
PMC6311499
AbstractArticlePDF–4.6M
19.
Identification of myocilin as a blood plasma protein and analysis of its role in leukocyte adhesion to endothelial cell monolayers
José-Daniel Aroca-Aguilar, Ana Fernández-Navarro, Jesús Ontañón, Miguel Coca-Prados, Julio Escribano
PLoS One. 2018; 13(12): e0209364. Published online 2018 Dec 17. doi: 10.1371/journal.pone.0209364
PMCID:
PMC6296516
AbstractArticlePDF–2.2M
20.
Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma
Ana Maria Marques, Galina Ananina, Vital Paulino Costa, José Paulo Cabral de Vasconcellos, Mônica Barbosa de Melo
PLoS One. 2018; 13(11): e0207409. Published online 2018 Nov 16. doi: 10.1371/journal.pone.0207409
PMCID:
PMC6239314
AbstractArticlePDF–1.2M

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