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Select item 74378571.

Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report

Alina Bogliş, Adriana S. Cosma, Florin Tripon, Claudia Bãnescu

Medicine (Baltimore) 2020 Aug 14; 99(33): e21632. Published online 2020 Aug 14. doi: 10.1097/MD.0000000000021632

PMCID:: PMC7437857

Abstract Article PDF–798K

Select item 62816612.

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

Aritoshi Iida, Eri Takeshita, Shunichi Kosugi, Yoichiro Kamatani, Yukihide Momozawa, Michiaki Kubo, Eiji Nakagawa, Kenji Kurosawa, Ken Inoue, Yu-ichi Goto

Hum Genome Var. 2019; 6: 1. Published online 2018 Dec 5. doi: 10.1038/s41439-018-0032-8

PMCID:: PMC6281661

Abstract Article PDF–561K

Select item 56072493.

High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan

Chia-Hsiang Chen, Hsin-I. Chen, Wei-Hsien Chien, Ling-Hui Li, Yu-Yu Wu, Yen-Nan Chiu, Wen-Che Tsai, Susan Shur-Fen Gau

Sci Rep. 2017; 7: 11919. Published online 2017 Sep 20. doi: 10.1038/s41598-017-12081-4

PMCID:: PMC5607249

Abstract Article PDF–1.2M

Select item 39566654.

Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development

Sabina Barresi, Sara Tomaselli, Alekos Athanasiadis, Federica Galeano, Franco Locatelli, Enrico Bertini, Ginevra Zanni, Angela Gallo

PLoS One. 2014; 9(3): e91351. Published online 2014 Mar 17. doi: 10.1371/journal.pone.0091351

PMCID:: PMC3956665

Abstract Article PDF–1.4M

Select item 26888195.

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

Björn Menten, Karen Buysse, Stefan Vermeulen, Valerie Meersschaut, Jo Vandesompele, Bee L. Ng, Nigel P.Carter, Geert R. Mortier, Frank Speleman

Eur J Med Genet. Author manuscript; available in PMC 2009 Jun 1.

Published in final edited form as: Eur J Med Genet. 2007 Nov-Dec; 50(6): 446–454. Published online 2007 Aug 6. doi: 10.1016/j.ejmg.2007.07.003

PMCID:: PMC2688819

Abstract Article PDF–1.0M

Select item 86003976.

Androgen deprivation-induced OPHN1 amplification promotes castration-resistant prostate cancer

Junjiang Liu, Yunxia Zhang, Shoubin Li, Fuzhen Sun, Gang Wang, Dong Wei, Tao Yang, Shouyi Gu

Oncol Rep. 2022 Jan; 47(1): 3. Published online 2021 Nov 2. doi: 10.3892/or.2021.8214

PMCID:: PMC8600397

Abstract Article PDF–1.1M

Select item 39925767.

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

Cíntia Barros Santos-Rebouças, Stefanie Belet, Luciana Guedes de Almeida, Márcia Gonçalves Ribeiro, Enrique Medina-Acosta, Paulo Roberto Valle Bahia, Antônio Francisco Alves da Silva, Flávia Lima dos Santos, Glenda Corrêa Borges de Lacerda, Márcia Mattos Gonçalves Pimentel, Guy Froyen

Eur J Hum Genet. 2014 May; 22(5): 644–651. Published online 2013 Oct 9. doi: 10.1038/ejhg.2013.216

PMCID:: PMC3992576

Abstract Article PDF–1.6M

Select item 17355028.

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

N Philip, B Chabrol, A Lossi, C Cardoso, R Guerrini, W Dobyns, C Raybaud, L Villard

J Med Genet. 2003 Jun; 40(6): 441–446. doi: 10.1136/jmg.40.6.441

PMCID:: PMC1735502

Summary PDF–429K

Select item 40693499.

The X-linked Mental Retardation Protein OPHN1 Interacts with Homer1b/c to Control Spine Endocytic Zone Positioning and Expression of Synaptic Potentiation

Akiko Nakano-Kobayashi, Yilin Tai, Nael Nadif Kasri, Linda Van Aelst

J Neurosci. 2014 Jun 25; 34(26): 8665–8671. doi: 10.1523/JNEUROSCI.0894-14.2014

PMCID:: PMC4069349

Abstract Article PDF–1.9M

Select item 492285410.

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function

Claudia Compagnucci, Sabina Barresi, Stefania Petrini, Pierre Billuart, Giorgia Piccini, Pietro Chiurazzi, Paolo Alfieri, Enrico Bertini, Ginevra Zanni

Stem Cells Transl Med. 2016 Jul; 5(7): 860–869. Published online 2016 May 9. doi: 10.5966/sctm.2015-0303

PMCID:: PMC4922854

Abstract Article PDF–2.2M

Select item 328913911.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

A Piton, J Gauthier, FF Hamdan, RG Lafrenière, Y Yang, E Henrion, S Laurent, A Noreau, P Thibodeau, L Karemera, D Spiegelman, F Kuku, J Duguay, L Destroismaisons, P Jolivet, M Côté, K Lachapelle, O Diallo, A Raymond, C Marineau, N Champagne, L Xiong, C Gaspar, J-B Rivière, J Tarabeux, P Cossette, M-O Krebs, JL Rapoport, A Addington, LE DeLisi, L Mottron, R Joober, E Fombonne, P Drapeau, GA Rouleau

Mol Psychiatry. Author manuscript; available in PMC 2012 Feb 28.

Published in final edited form as: Mol Psychiatry. 2011 Aug; 16(8): 867–880. Published online 2010 May 18. doi: 10.1038/mp.2010.54

PMCID:: PMC3289139

Abstract Article PDF–1.2M

Select item 351403512.

Epithelial junction formation requires confinement of Cdc42 activity by a novel SH3BP1 complex

Ahmed Elbediwy, Ceniz Zihni, Stephen J. Terry, Peter Clark, Karl Matter, Maria S. Balda

J Cell Biol. 2012 Aug 20; 198(4): 677–693. doi: 10.1083/jcb.201202094

PMCID:: PMC3514035

Abstract Article PDF–6.5M

Select item 555930613.

A genome-wide CRISPR screen identifies genes critical for resistance to FLT3 inhibitor AC220

Panpan Hou, Chao Wu, Yuchen Wang, Rui Qi, Dheeraj Bhavanasi, Zhixiang Zuo, Cedric Dos Santos, Shuliang Chen, Yu Chen, Hong Zheng, Hong Wang, Alexander Perl, Deyin Guo, Jian Huang

Cancer Res. Author manuscript; available in PMC 2018 Aug 15.

Published in final edited form as: Cancer Res. 2017 Aug 15; 77(16): 4402–4413. Published online 2017 Jun 16. doi: 10.1158/0008-5472.CAN-16-1627

PMCID:: PMC5559306

Abstract Article PDF–885K

Select item 266528614.

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

Abstract Article PDF–1.0M

Select item 51531615.

Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions

Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano

Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604

PMCID:: PMC515316

Abstract Article PDF–181K

Select item 567858116.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9

PMCID:: PMC5678581

Abstract Article PDF–3.2M

Select item 582692617.

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 553161118.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503019.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

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

Abstract Article PDF–118K

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