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Items: 1 to 20 of 21

1.
Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR
Duong Thu Trang, Nguyen Minh Phu, Do Manh Hung, Vu Phuong Nhung, Nguyen Ngan Ha, Ma Thi Huyen Thuong, Tran Thi Bich Ngoc, Nguyen Xuan Hiep, Nguyen Dang Ton, Nong Van Hai, Nguyen Hai Ha
Mol Vis. 2022; 28: 480–491. Published online 2022 Dec 21.
PMCID:
PMC10115361
AbstractArticlePDF–4.4M
2.
Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7
David Atac, Lucas Mohn, Silke Feil, Kevin Maggi, Dominik Haenni, Britta Seebauer, Samuel Koller, Wolfgang Berger
Int J Mol Sci. 2022 Feb; 23(3): 1053. Published online 2022 Jan 19. doi: 10.3390/ijms23031053
PMCID:
PMC8834682
AbstractArticlePDF–3.9M
3.
Impact of cytosine methylation on DNA binding specificities of human transcription factors
Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R. Nitta, Minna Taipale, Alexander Popov, Paul A. Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale
Science. Author manuscript; available in PMC 2021 Mar 30.
Published in final edited form as: Science. 2017 May 5; 356(6337): eaaj2239. doi: 10.1126/science.aaj2239
PMCID:
PMC8009048
AbstractArticlePDF–2.6M
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.
Elevated expression of human bHLH factor ATOH7 accelerates cell cycle progression of progenitors and enhances production of avian retinal ganglion cells
Xiang-Mei Zhang, Takao Hashimoto, Ronald Tang, Xian-Jie Yang
Sci Rep. 2018; 8: 6823. Published online 2018 May 1. doi: 10.1038/s41598-018-25188-z
PMCID:
PMC5931526
AbstractArticlePDF–5.1M
6.
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families
Vafa Keser, Ayesha Khan, Sorath Siddiqui, Irma Lopez, Huanan Ren, Raheel Qamar, Javad Nadaf, Jacek Majewski, Rui Chen, Robert K. Koenekoop
Invest Ophthalmol Vis Sci. 2017 Feb; 58(2): 1028–1036. doi: 10.1167/iovs.16-20281
PMCID:
PMC5308768
AbstractArticlePDF–776K
7.
A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population
Drew R. Nannini, Mina Torres, Yii-Der I. Chen, Kent D. Taylor, Jerome I. Rotter, Rohit Varma, Xiaoyi Gao
Invest Ophthalmol Vis Sci. 2017 Jan; 58(1): 87–95. doi: 10.1167/iovs.16-19891
PMCID:
PMC5231910
AbstractArticlePDF–1.1M
8.
Genetic Association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the Endophenotypes of Primary Open Angle Glaucoma in Indian Population
Ferdinamarie Sharmila Philomenadin, Rashima Asokan, Viswanathan N, Ronnie George, Vijaya Lingam, Sripriya Sarangapani
PLoS One. 2015; 10(3): e0119703. Published online 2015 Mar 23. doi: 10.1371/journal.pone.0119703
PMCID:
PMC4370747
AbstractArticlePDF–235K
9.
Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts
Shazia Micheal, Humaira Ayub, Muhammad Imran Khan, Bjorn Bakker, Frederieke E. Schoenmaker-Koller, Mahmood Ali, Farah Akhtar, Wajid Ali Khan, Raheel Qamar, Anneke I. den Hollander
Mol Vis. 2014; 20: 1471–1479. Published online 2014 Nov 4.
PMCID:
PMC4225136
AbstractArticlePDF–433K
10.
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Henriët. Springelkamp, René Höhn, Aniket Mishra, Pirro G. Hysi, Chiea-Chuen Khor, Stephanie J. Loomis, Jessica N. Cooke Bailey, Jane Gibson, Gudmar Thorleifsson, Sarah F. Janssen, Xiaoyan Luo, Wishal D. Ramdas, Eranga Vithana, Monisha E. Nongpiur, Grant W. Montgomery, Liang Xu, Jenny E. Mountain, Puya Gharahkhani, Yi Lu, Najaf Amin, Lennart C. Karssen, Kar-Seng Sim, Elisabeth M. van Leeuwen, Adriana I. Iglesias, Virginie J. M. Verhoeven, Michael A. Hauser, Seng-Chee Loon, Dominiek D. G. Despriet, Abhishek Nag, Cristina Venturini, Paul G. Sanfilippo, Arne Schillert, Jae H. Kang, John Landers, Fridbert Jonasson, Angela J. Cree, Leonieke M. E. van Koolwijk, Fernando Rivadeneira, Emmanuelle Souzeau, Vesteinn Jonsson, Geeta Menon, Blue Mountains Eye Study—GWAS group, Robert N. Weinreb, Paulus T. V. M. de Jong, Ben A. Oostra, André G. Uitterlinden, Albert Hofman, Sarah Ennis, Unnur Thorsteinsdottir, Kathryn P. Burdon, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Timothy D. Spector, Alireza Mirshahi, Seang-Mei Saw, Johannes R. Vingerling, Yik-Ying Teo, Jonathan L. Haines, Roger C. W. Wolfs, Hans G. Lemij, E-Shyong Tai, Nomdo M. Jansonius, Jost B. Jonas, Ching-Yu Cheng, Tin Aung, Ananth C. Viswanathan, Caroline C. W. Klaver, Jamie E. Craig, Stuart Macgregor, David A. Mackey, Andrew J. Lotery, Kari Stefansson, Arthur A. B. Bergen, Terri L. Young, Janey L. Wiggs, Norbert Pfeiffer, Tien-Yin Wong, Louis R. Pasquale, Alex W. Hewitt, Cornelia M. van Duijn, Christopher J. Hammond
Nat Commun. 2014 Sep 22; 5: 4883. Published online 2014 Sep 22. doi: 10.1038/ncomms5883
PMCID:
PMC4199103
AbstractArticlePDF–481K
11.
Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia
Sing-Hui Lim, Elizabeth St.Germain, Khanh-Nhat Tran-Viet, Sandra Staffieri, Meghan Marino, Pr Hélène Dollfus, Erica B. Nading, Sue Crowe, Glen Gole, Yaumara Perdomo-Trujillo, Michael Haybittel, James Elder, Valérie Pelletier, Elias Traboulsi, David Mackey, Terri L. Young
Ophthalmic Genet. Author manuscript; available in PMC 2014 Sep 9.
Published in final edited form as: Ophthalmic Genet. 2014 Mar; 35(1): 1–6. Published online 2013 Jun 26. doi: 10.3109/13816810.2012.752017
PMCID:
PMC4159081
AbstractArticlePDF–58K
12.
Genetic variants associated with disordered eating
Tracey D Wade, Scott Gordon, Sarah Medland, Cynthia M. Bulik, Andrew C Heath, Grant W Montgomery, Nicholas G Martin
Int J Eat Disord. Author manuscript; available in PMC 2014 Sep 1.
Published in final edited form as: Int J Eat Disord. 2013 Sep; 46(6): 594–608. Published online 2013 Apr 9. doi: 10.1002/eat.22133
PMCID:
PMC3775874
AbstractArticlePDF–2.1M
13.
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous
Lev Prasov, Tehmina Masud, Shagufta Khaliq, S. Qasim Mehdi, Aiysha Abid, Edward R. Oliver, Eduardo D. Silva, Amy Lewanda, Michael C. Brodsky, Mark Borchert, Daniel Kelberman, Jane C. Sowden, Mehul T. Dattani, Tom Glaser
Hum Mol Genet. 2012 Aug 15; 21(16): 3681–3694. Published online 2012 May 29. doi: 10.1093/hmg/dds197
PMCID:
PMC3406761
AbstractArticlePDF–517K
14.
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
Kamron Khan, Clare V. Logan, Martin McKibbin, Eamonn Sheridan, Nursel H. Elçioglu, Ozlem Yenice, David A. Parry, Narcis Fernandez-Fuentes, Zakia I.A. Abdelhamed, Ahmed Al-Maskari, James A. Poulter, Moin D. Mohamed, Ian M. Carr, Joanne E. Morgan, Hussain Jafri, Yasmin Raashid, Graham R. Taylor, Colin A. Johnson, Chris F. Inglehearn, Carmel Toomes, Manir Ali
Hum Mol Genet. 2012 Feb 15; 21(4): 776–783. Published online 2011 Nov 7. doi: 10.1093/hmg/ddr509
PMCID:
PMC3263993
AbstractArticlePDF–240K
15.
Focus on Molecules: Math5 and Retinal Ganglion Cells
Darshan Sapkota, Fuguo Wu, Xiuqian Mu
Exp Eye Res. Author manuscript; available in PMC 2012 Dec 1.
Published in final edited form as: Exp Eye Res. 2011 Dec; 93(6): 796–797. Published online 2011 Oct 15. doi: 10.1016/j.exer.2011.10.003
PMCID:
PMC3225721
ArticlePDF–489K
16.
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
17.
Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease
Noor M. Ghiasvand, Dellaney D. Rudolph, Mohammad Mashayekhi, Joseph A. Brzezinski, IV, Daniel Goldman, Tom Glaser
Nat Neurosci. Author manuscript; available in PMC 2011 Nov 1.
Published in final edited form as: Nat Neurosci. 2011 May; 14(5): 578–586. Published online 2011 Mar 27. doi: 10.1038/nn.2798
PMCID:
PMC3083485
AbstractArticlePDF–3.0M
18.
A Genome-Wide Association Study of Optic Disc Parameters
Wishal D. Ramdas, Leonieke M. E. van Koolwijk, M. Kamran Ikram, Nomdo M. Jansonius, Paulus T. V. M. de Jong, Arthur A. B. Bergen, Aaron Isaacs, Najaf Amin, Yurii S. Aulchenko, Roger C. W. Wolfs, Albert Hofman, Fernando Rivadeneira, Ben A. Oostra, Andre G. Uitterlinden, Pirro Hysi, Christopher J. Hammond, Hans G. Lemij, Johannes R. Vingerling, Caroline C. W. Klaver, Cornelia M. van Duijn
PLoS Genet. 2010 Jun; 6(6): e1000978. Published online 2010 Jun 10. doi: 10.1371/journal.pgen.1000978
PMCID:
PMC2883590
AbstractArticlePDF–850K
19.
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
Stuart Macgregor, Alex W. Hewitt, Pirro G. Hysi, Jonathan B. Ruddle, Sarah E. Medland, Anjali K. Henders, Scott D. Gordon, Toby Andrew, Brian McEvoy, Paul G. Sanfilippo, Francis Carbonaro, Vikas Tah, Yi Ju Li, Sonya L. Bennett, Jamie E. Craig, Grant W. Montgomery, Khanh-Nhat Tran-Viet, Nadean L. Brown, Timothy D. Spector, Nicholas G. Martin, Terri L. Young, Christopher J. Hammond, David A. Mackey
Hum Mol Genet. 2010 Jul 1; 19(13): 2716–2724. Published online 2010 Apr 15. doi: 10.1093/hmg/ddq144
PMCID:
PMC2883339
AbstractArticlePDF–322K
20.
Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development
Nadean L. Brown, Susan L. Dagenais, Chuan-Min Chen, Tom Glaser
Mamm Genome. Author manuscript; available in PMC 2008 Mar 4.
Published in final edited form as: Mamm Genome. 2002 Feb; 13(2): 95–101. doi: 10.1007/s00335-001-2101-3
PMCID:
PMC2262845
AbstractArticlePDF–1.7M

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