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Items: 1 to 20 of 22

1.
ZIC3 in heterotaxy
Helen M. Bellchambers, Stephanie M. Ware
Adv Exp Med Biol. Author manuscript; available in PMC 2021 Sep 16.
Published in final edited form as: Adv Exp Med Biol. 2018; 1046: 301–327. doi: 10.1007/978-981-10-7311-3_15
PMCID:
PMC8445495
AbstractArticlePDF–1.9M
2.
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
Aimee D C Paulussen, Anja Steyls, Jo Vanoevelen, Florence HJ van Tienen, Ingrid P C Krapels, Godelieve RF Claes, Sonja Chocron, Crool Velter, Gita M Tan-Sindhunata, Catarina Lundin, Irene Valenzuela, Balint Nagy, Iben Bache, Lisa Leth Maroun, Kristiina Avela, Han G Brunner, Hubert J M Smeets, Jeroen Bakkers, Arthur van den Wijngaard
Eur J Hum Genet. 2016 Dec; 24(12): 1783–1791. Published online 2016 Jul 13. doi: 10.1038/ejhg.2016.91
PMCID:
PMC5117940
AbstractArticlePDF–2.7M
3.
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects
Jason R. Cowan, Muhammad Tariq, Chad Shaw, Mitchell Rao, John W. Belmont, Seema R. Lalani, Teresa A. Smolarek, Stephanie M. Ware
Philos Trans R Soc Lond B Biol Sci. 2016 Dec 19; 371(1710): 20150406. doi: 10.1098/rstb.2015.0406
PMCID:
PMC5104505
AbstractArticlePDF–913K
4.
Genetic and functional analyses of ZIC3 variants in congenital heart disease
Jason Cowan, Muhammad Tariq, Stephanie M. Ware
Hum Mutat. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: Hum Mutat. 2014 Jan; 35(1): 66–75. doi: 10.1002/humu.22457
PMCID:
PMC3946352
AbstractArticlePDF–1.0M
5.
The Phenotypic Spectrum of ZIC3 Mutations Includes Isolated d-Transposition of the Great Arteries and Double Outlet Right Ventricle
Lisa C. A. D’Alessandro, Brande C. Latney, Prasuna C. Paluru, Elizabeth Goldmuntz
Am J Med Genet A. Author manuscript; available in PMC 2014 Apr 1.
Published in final edited form as: Am J Med Genet A. 2013 Apr; 161(4): 792–802. Published online 2013 Feb 20. doi: 10.1002/ajmg.a.35849
PMCID:
PMC3707401
AbstractArticlePDF–2.2M
6.
Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects
Stephanie M. Ware, Jianlan Peng, Lirong Zhu, Susan Fernbach, Suzanne Colicos, Brett Casey, Jeffrey Towbin, John W. Belmont
Am J Hum Genet. 2004 Jan; 74(1): 93–105. Published online 2003 Dec 16. doi: 10.1086/380998
PMCID:
PMC1181916
AbstractArticlePDF–685K
7.
Identification of a Novel ZIC3 Isoform and Mutation Screening in Patients with Heterotaxy and Congenital Heart Disease
James E. J. Bedard, Allison M. Haaning, Stephanie M. Ware
PLoS One. 2011; 6(8): e23755. Published online 2011 Aug 17. doi: 10.1371/journal.pone.0023755
PMCID:
PMC3157443
AbstractArticlePDF–1.4M
8.
A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease
Shuolin Li, Sida Liu, Weicheng Chen, Yuan Yuan, Ruoyi Gu, Yangliu Song, Jian Li, Yinyin Cao, Yixiang Lin, Jun Xu, Huijun Wang, Duan Ma, Xiaojing Ma, Wei Sheng, Guoying Huang
Sci Rep. 2018; 8: 12386. Published online 2018 Aug 17. doi: 10.1038/s41598-018-30204-3
PMCID:
PMC6098004
AbstractArticlePDF–3.3M
9.
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies
Lijiang Ma, Elif Seda Selamet Tierney, Teresa Lee, Patricia Lanzano, Wendy K. Chung
Cardiol Young. Author manuscript; available in PMC 2013 Jun 11.
Published in final edited form as: Cardiol Young. 2012 Apr; 22(2): 194–201. Published online 2011 Aug 25. doi: 10.1017/S1047951111001181
PMCID:
PMC3678527
AbstractArticlePDF–1.6M
10.
Targeted re-sequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association
Alina C. Hilger, Jan Halbritter, Tracie Pennimpede, Amelie van der Ven, Georgia Sarma, Daniela A. Braun, Jonathan D. Porath, Stefan Kohl, Daw-Yung Hwang, Gabriel C. Dworschak, Bernhard G. Hermann, Anna Pavlova, Osman El-Maarri, Markus M. Nöthen, Michael Ludwig, Heiko Reutter, Friedhelm Hildebrandt
Hum Mutat. Author manuscript; available in PMC 2016 Dec 1.
Published in final edited form as: Hum Mutat. 2015 Dec; 36(12): 1150–1154. Published online 2015 Sep 14. doi: 10.1002/humu.22859
PMCID:
PMC4643331
AbstractArticlePDF–254K
11.
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain
Minoru Hatayama, Tadashi Tomizawa, Kumiko Sakai-Kato, Patrice Bouvagnet, Shingo Kose, Naoko Imamoto, Shigeyuki Yokoyama, Naoko Utsunomiya-Tate, Katsuhiko Mikoshiba, Takanori Kigawa, Jun Aruga
Hum Mol Genet. 2008 Nov 15; 17(22): 3459–3473. Published online 2008 Aug 20. doi: 10.1093/hmg/ddn239
PMCID:
PMC2572694
AbstractArticlePDF–1.4M
12.
An Evolutionarily Conserved Mesodermal Enhancer in Vertebrate Zic3
Yuri S. Odaka, Takahide Tohmonda, Atsushi Toyoda, Jun Aruga
Sci Rep. 2018; 8: 14954. Published online 2018 Oct 8. doi: 10.1038/s41598-018-33235-y
PMCID:
PMC6175831
AbstractArticlePDF–7.4M
13.
The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis
Giorgio Oliviero, Nayla Munawar, Ariane Watson, Gundula Streubel, Gwendolyn Manning, Vivian Bardwell, Adrian P. Bracken, Gerard Cagney
Sci Rep. 2015; 5: 18388. Published online 2015 Dec 21. doi: 10.1038/srep18388
PMCID:
PMC4685312
AbstractArticlePDF–1.5M
14.
The DNA sequence of the human X chromosome
Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley
Nature. Author manuscript; available in PMC 2009 Apr 5.
Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440
PMCID:
PMC2665286
AbstractArticlePDF–1.0M
15.
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
16.
DNA Cloning Using In Vitro Site-Specific Recombination
James L. Hartley, Gary F. Temple, Michael A. Brasch
Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000
PMCID:
PMC310948
AbstractArticlePDF–1.7M
17.
The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery
Ramesh Kumar, Román González-Prieto, Zhenyu Xiao, Matty Verlaan-de Vries, Alfred C. O. Vertegaal
Nat Commun. 2017; 8: 1809. Published online 2017 Nov 27. doi: 10.1038/s41467-017-01900-x
PMCID:
PMC5703878
AbstractArticlePDF–3.7M
18.
Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205
PMCID:
PMC9348576
AbstractArticlePDF–3.0M
19.
Human transcription factor protein interaction networks
Helka Göös, Matias Kinnunen, Kari Salokas, Zenglai Tan, Xiaonan Liu, Leena Yadav, Qin Zhang, Gong-Hong Wei, Markku Varjosalo
Nat Commun. 2022; 13: 766. Published online 2022 Feb 9. doi: 10.1038/s41467-022-28341-5
PMCID:
PMC8828895
AbstractArticlePDF–1.7M
20.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K

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