PMC Links for GEO Profiles (Select 122757191) - PMC

Select item 108095871.

Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study

Wolf Wonneberger, Bertil Sterner, Ulrika MacLean, Margareta Claesson, Lena Havstam Johansson, Ingmar Skoog, Madeleine Zetterberg, Anna Zettergren

BMC Ophthalmol. 2024; 24: 36. Published online 2024 Jan 24. doi: 10.1186/s12886-024-03299-8

PMCID:: PMC10809587

Abstract Article PDF–975K

Select item 87690722.

Proteome‐scale mapping of binding sites in the unstructured regions of the human proteome

Caroline Benz, Muhammad Ali, Izabella Krystkowiak, Leandro Simonetti, Ahmed Sayadi, Filip Mihalic, Johanna Kliche, Eva Andersson, Per Jemth, Norman E Davey, Ylva Ivarsson

Mol Syst Biol. 2022 Jan; 18(1): e10584. Published online 2022 Jan 19. doi: 10.15252/msb.202110584

PMCID:: PMC8769072

Abstract Article PDF–2.9M

Select item 79797053.

Acetylation of ELF5 suppresses breast cancer progression by promoting its degradation and targeting CCND1

Xiahui Li, Shujing Li, Bowen Li, Yanan Li, Sattout Aman, Kangkai Xia, Yuxi Yang, Bashir Ahmad, Huijian Wu

NPJ Precis Oncol. 2021; 5: 20. Published online 2021 Mar 19. doi: 10.1038/s41698-021-00158-3

PMCID:: PMC7979705

Abstract Article PDF–6.8M

Select item 69420444.

Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity

Jae Jin Kim, Seo Yun Lee, Fade Gong, Anna M. Battenhouse, Daniel R. Boutz, Aarti Bashyal, Samantha T. Refvik, Cheng-Ming Chiang, Blerta Xhemalce, Tanya T. Paull, Jennifer S. Brodbelt, Edward M. Marcotte, Kyle M. Miller

Genes Dev. 2019 Dec 1; 33(23-24): 1751–1774. doi: 10.1101/gad.331231.119

PMCID:: PMC6942044

Abstract Article PDF–10M

Select item 66125725.

Corneal perforation following corneal cross-linking in keratoconus associated with potentially pathogenic ZNF469 mutations

Wenlin Zhang, J. Ben Margines, Deborah S. Jacobs, Yaron S. Rabinowitz, Evelyn Maryam Hanser, Tulika Chauhan, Doug Chung, Yelena Bykhovskaya, Ronald N. Gaster, Anthony J. Aldave

Cornea. Author manuscript; available in PMC 2020 Aug 1.

Published in final edited form as: Cornea. 2019 Aug; 38(8): 1033–1039. doi: 10.1097/ICO.0000000000002002

PMCID:: PMC6612572

Abstract Article PDF–937K

Select item 61666826.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 58269267.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 57078008.

Polymorphism rs13334190 in zinc finger protein 469 (ZNF469) is not a risk factor for keratoconus in a Saudi cohort

Hatem Kalantan, Altaf A. Kondkar, Tahira Sultan, Taif A. Azad, Nasser A. Alsabaani, Masoud Ali AlQahtani, Abdulrahman Almummar, Yuato Liu, Khaled K. Abu-Amero

BMC Res Notes. 2017; 10: 652. Published online 2017 Nov 29. doi: 10.1186/s13104-017-2996-8

PMCID:: PMC5707800

Abstract Article PDF–794K

Select item 54101659.

Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population

Xiaoning Yu, Binbin Chen, Xin Zhang, Xingchao Shentu

Mol Vis. 2017; 23: 296–304. Published online 2017 Apr 28.

PMCID:: PMC5410165

Abstract Article PDF–1.3M

Select item 480585510.

Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways

Javier Rodriguez, Ruth Pilkington, Amaya Garcia Munoz, Lan K. Nguyen, Nora Rauch, Susan Kennedy, Naser Monsefi, Ana Herrero, Cormac T. Taylor, Alex von Kriegsheim

Cell Rep. 2016 Mar 22; 14(11): 2745–2760. Published online 2016 Mar 10. doi: 10.1016/j.celrep.2016.02.043

PMCID:: PMC4805855

Abstract Article PDF–4.6M

Select item 460415511.

Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy

Bethany L. Johnson-Kerner, Alejandro Garcia Diaz, Sean Ekins, Hynek Wichterle

PLoS One. 2015; 10(10): e0140157. Published online 2015 Oct 13. doi: 10.1371/journal.pone.0140157

PMCID:: PMC4604155

Abstract Article PDF–2.9M

Select item 416882412.

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

Judith Lechner, Louise F. Porter, Aine Rice, Veronique Vitart, David J. Armstrong, Daniel F. Schorderet, Francis L. Munier, Alan F. Wright, Chris F. Inglehearn, Graeme C. Black, David A. Simpson, Forbes Manson, Colin E. Willoughby

Hum Mol Genet. 2014 Oct 15; 23(20): 5527–5535. Published online 2014 Jun 3. doi: 10.1093/hmg/ddu253

PMCID:: PMC4168824

Abstract Article PDF–500K

Select item 392599413.

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Marianne Rohrbach, Helen L. Spencer, Louise F. Porter, Emma M.M. Burkitt-Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al-Hussain, Matthias Baumgartner, Beat Steinmann, Graeme C.M. Black, Forbes D.C. Manson, Cecilia Giunta

Mol Genet Metab. 2013 Jul; 109(3): 289–295. doi: 10.1016/j.ymgme.2013.04.014

PMCID:: PMC3925994

Abstract Article PDF–607K

Select item 377274714.

Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

Ching-Yu Cheng, Maria Schache, M. Kamran Ikram, Terri L. Young, Jeremy A. Guggenheim, Veronique Vitart, Stuart MacGregor, Virginie J.M. Verhoeven, Veluchamy A. Barathi, Jiemin Liao, Pirro G. Hysi, Joan E. Bailey-Wilson, Beate St. Pourcain, John P. Kemp, George McMahon, Nicholas J. Timpson, David M. Evans, Grant W. Montgomery, Aniket Mishra, Ya Xing Wang, Jie Jin Wang, Elena Rochtchina, Ozren Polasek, Alan F. Wright, Najaf Amin, Elisabeth M. van Leeuwen, James F. Wilson, Craig E. Pennell, Cornelia M. van Duijn, Paulus T.V.M. de Jong, Johannes R. Vingerling, Xin Zhou, Peng Chen, Ruoying Li, Wan-Ting Tay, Yingfeng Zheng, Merwyn Chew, Consortium for Refractive Error and Myopia, Kathryn P. Burdon, Jamie E. Craig, Sudha K. Iyengar, Robert P. Igo, Jr., Jonathan H. Lass, Jr., The Fuchs’ Genetics Multi-Center Study Group, Emily Y. Chew, Toomas Haller, Evelin Mihailov, Andres Metspalu, Juho Wedenoja, Claire L. Simpson, Robert Wojciechowski, René Höhn, Alireza Mirshahi, Tanja Zeller, Norbert Pfeiffer, Karl J. Lackner, Wellcome Trust Case Control Consortium 2, Thomas Bettecken, Thomas Meitinger, Konrad Oexle, Mario Pirastu, Laura Portas, Abhishek Nag, Katie M. Williams, Ekaterina Yonova-Doing, Ronald Klein, Barbara E. Klein, S. Mohsen Hosseini, Andrew D. Paterson, The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Kari-Matti Makela, Terho Lehtimaki, Mika Kahonen, Olli Raitakari, Nagahisa Yoshimura, Fumihiko Matsuda, Li Jia Chen, Chi Pui Pang, Shea Ping Yip, Maurice K.H. Yap, Akira Meguro, Nobuhisa Mizuki, Hidetoshi Inoko, Paul J. Foster, Jing Hua Zhao, Eranga Vithana, E-Shyong Tai, Qiao Fan, Liang Xu, Harry Campbell, Brian Fleck, Igor Rudan, Tin Aung, Albert Hofman, André G. Uitterlinden, Goran Bencic, Chiea-Chuen Khor, Hannah Forward, Olavi Pärssinen, Paul Mitchell, Fernando Rivadeneira, Alex W. Hewitt, Cathy Williams, Ben A. Oostra, Yik-Ying Teo, Christopher J. Hammond, Dwight Stambolian, David A. Mackey, Caroline C.W. Klaver, Tien-Yin Wong, Seang-Mei Saw, Paul N. Baird

Am J Hum Genet. 2013 Aug 8; 93(2): 264–277. doi: 10.1016/j.ajhg.2013.06.016

PMCID:: PMC3772747

Abstract Article PDF–959K

Select item 372012315.

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Yi Lu, Veronique Vitart, Kathryn P Burdon, Chiea Chuen Khor, Yelena Bykhovskaya, Alireza Mirshahi, Alex W Hewitt, Demelza Koehn, Pirro G Hysi, Wishal D Ramdas, Tanja Zeller, Eranga N Vithana, Belinda K Cornes, Wan-Ting Tay, E Shyong Tai, Ching-Yu Cheng, Jianjun Liu, Jia-Nee Foo, Seang Mei Saw, Gudmar Thorleifsson, Kari Stefansson, David P Dimasi, Richard A Mills, Jenny Mountain, Wei Ang, René Hoehn, Virginie J M Verhoeven, Franz Grus, Roger Wolfs, Raphaële Castagne, Karl J Lackner, Henriët Springelkamp, Jian Yang, Fridbert Jonasson, Dexter Y L Leung, Li J Chen, Clement C Y Tham, Igor Rudan, Zoran Vatavuk, Caroline Hayward, Jane Gibson, Angela J Cree, Alex MacLeod, Sarah Ennis, Ozren Polasek, Harry Campbell, James F Wilson, Ananth C Viswanathan, Brian Fleck, Xiaohui Li, David Siscovick, Kent D Taylor, Jerome I Rotter, Seyhan Yazar, Megan Ulmer, Jun Li, Brian L Yaspan, Ayse B Ozel, Julia E Richards, Sayoko E Moroi, Jonathan L Haines, Jae H Kang, Louis R Pasquale, R Rand Allingham, Allison Ashley-Koch, NEIGHBOR Consortium, Paul Mitchell, Jie Jin Wang, Alan F Wright, Craig Pennell, Timothy D Spector, Terri L Young, Caroline C W Klaver, Nicholas G Martin, Grant W Montgomery, Michael G Anderson, Tin Aung, Colin E Willoughby, Janey L Wiggs, Chi P Pang, Unnur Thorsteinsdottir, Andrew J Lotery, Christopher J Hammond, Cornelia M van Duijn, Michael A Hauser, Yaron S Rabinowitz, Norbert Pfeiffer, David A Mackey, Jamie E Craig, Stuart Macgregor, Tien Y Wong

Nat Genet. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Nat Genet. 2013 Feb; 45(2): 155–163. Published online 2013 Jan 6. doi: 10.1038/ng.2506

PMCID:: PMC3720123

Abstract Article PDF–1.2M

Select item 311323916.

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Emma M.M. Burkitt Wright, Helen L. Spencer, Sarah B. Daly, Forbes D.C. Manson, Leo A.H. Zeef, Jill Urquhart, Nicoletta Zoppi, Richard Bonshek, Ioannis Tosounidis, Meyyammai Mohan, Colm Madden, Annabel Dodds, Kate E. Chandler, Siddharth Banka, Leon Au, Jill Clayton-Smith, Naz Khan, Leslie G. Biesecker, Meredith Wilson, Marianne Rohrbach, Marina Colombi, Cecilia Giunta, Graeme C.M. Black

Am J Hum Genet. 2011 Jun 10; 88(6): 767–777. doi: 10.1016/j.ajhg.2011.05.007

Correction in:: Am J Hum Genet. 2011 Aug 12; 89(2): 346.

PMCID:: PMC3113239

Abstract Article PDF–1.1M

Select item 286932517.

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

Yi Lu, David P. Dimasi, Pirro G. Hysi, Alex W. Hewitt, Kathryn P. Burdon, Tze'Yo Toh, Jonathan B. Ruddle, Yi Ju Li, Paul Mitchell, Paul R. Healey, Grant W. Montgomery, Narelle Hansell, Timothy D. Spector, Nicholas G. Martin, Terri L. Young, Christopher J. Hammond, Stuart Macgregor, Jamie E. Craig, David A. Mackey

PLoS Genet. 2010 May; 6(5): e1000947. Published online 2010 May 13. doi: 10.1371/journal.pgen.1000947

PMCID:: PMC2869325

Abstract Article PDF–370K

Select item 242719218.

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

Almogit Abu, Moshe Frydman, Dina Marek, Eran Pras, Uri Nir, Haike Reznik-Wolf, Elon Pras

Am J Hum Genet. 2008 May 9; 82(5): 1217–1222. Published online 2008 May 2. doi: 10.1016/j.ajhg.2008.04.001

PMCID:: PMC2427192

Abstract Article PDF–701K

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