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Select item 88346821.

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

Article PDF–3.9M

Select item 59315262.

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

Article PDF–5.1M

Select item 53087683.

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

Article PDF–776K

Select item 52319104.

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

Article PDF–1.1M

Select item 41590815.

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

Article PDF–58K

Select item 32639936.

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

Article PDF–240K

Select item 34067617.

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

Article PDF–517K

Select item 32257218.

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

Article PDF–489K

Select item 43707479.

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

Article PDF–235K

Select item 422513610.

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

Article PDF–433K

Select item 1011536111.

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

Article PDF–4.4M

Select item 308348512.

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

Article PDF–3.0M

Select item 226284513.

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

Article PDF–1.7M

Select item 288359014.

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

Article PDF–850K

Select item 288333915.

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

Article PDF–322K

Select item 419910316.

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

Article PDF–481K

Select item 377587417.

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

Article PDF–2.1M

Select item 800904818.

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

Article PDF–2.6M

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 13924120.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Article PDF–118K

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