PMC Links for OMIM (Select 604167) - PMC

Select item 75540771.

CTCF orchestrates long-range cohesin-driven V(D)J recombinational scanning

Zhaoqing Ba, Jiangman Lou, Adam Yongxin Ye, Hai-Qiang Dai, Edward W. Dring, Sherry G. Lin, Suvi Jain, Nia Kyritsis, Kyong-Rim Kieffer-Kwon, Rafael Casellas, Frederick W. Alt

Nature. Author manuscript; available in PMC 2021 Jan 27.

Published in final edited form as: Nature. 2020 Oct; 586(7828): 305–310. Published online 2020 Jul 27. doi: 10.1038/s41586-020-2578-0

PMCID:: PMC7554077

Abstract Article PDF–4.6M

Select item 73984282.

CTCF-promoted RNA polymerase II pausing links DNA methylation to splicing

Sanjeev Shukla, Ersen Kavak, Melissa Gregory, Masahiko Imashimizu, Bojan Shutinoski, Mikhail Kashlev, Philipp Oberdoerffer, Rickard Sandberg, Shalini Oberdoerffer

Nature. Author manuscript; available in PMC 2020 Aug 3.

Published in final edited form as: Nature. 2011 Nov 3; 479(7371): 74–79. doi: 10.1038/nature10442

PMCID:: PMC7398428

Abstract Article PDF–1.4M

Select item 70351133.

The structural basis for cohesin-CTCF anchored loops

Yan Li, Judith H.I. Haarhuis, Ángela Sedeño Cacciatore, Roel Oldenkamp, Marjon S. van Ruiten, Laureen Willems, Hans Teunissen, Kyle W. Muir, Elzo de Wit, Benjamin D. Rowland, Daniel Panne

Nature. Author manuscript; available in PMC 2020 Jul 6.

Published in final edited form as: Nature. 2020 Feb; 578(7795): 472–476. Published online 2020 Jan 6. doi: 10.1038/s41586-019-1910-z

PMCID:: PMC7035113

Abstract Article PDF–4.9M

Select item 68927444.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D. H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M. Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C. J. Jongmans, Vivian Y. Chang, Julian A. Martinez-Agosto, Outi Kuismin, Mitja I. Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana S. Johnson, Katja Venborg Pedersen, Lone W. Laulund, Sally A. Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, DDD Study, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier

Genet Med. 2019; 21(12): 2723–2733. Published online 2019 Jun 26. doi: 10.1038/s41436-019-0585-z

PMCID:: PMC6892744

Abstract Article PDF–1.9M

Select item 60806955.

Cohesin is positioned in mammalian genomes by transcription, CTCF and Wapl

Georg A. Busslinger, Roman R. Stocsits, Petra van der Lelij, Elin Axelsson, Antonio Tedeschi, Niels Galjart, Jan-Michael Peters

Nature. Author manuscript; available in PMC 2018 Aug 7.

Published in final edited form as: Nature. 2017 Apr 27; 544(7651): 503–507. Published online 2017 Apr 19. doi: 10.1038/nature22063

PMCID:: PMC6080695

Abstract Article PDF–5.6M

Select item 44281486.

CTCF establishes discrete functional chromatin domains at the Hox clusters during differentiation

Varun Narendra, Pedro P. Rocha, Disi An, Ramya Raviram, Jane A. Skok, Esteban O. Mazzoni, Danny Reinberg

Science. Author manuscript; available in PMC 2015 May 12.

Published in final edited form as: Science. 2015 Feb 27; 347(6225): 1017–1021. doi: 10.1126/science.1262088

PMCID:: PMC4428148

Abstract Article PDF–1.8M

Select item 42223637.

Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region

Folami Y. Ideraabdullah, Joanne L. Thorvaldsen, Jennifer A. Myers, Marisa S. Bartolomei

Hum Mol Genet. 2014 Dec 1; 23(23): 6246–6259. Published online 2014 Jul 2. doi: 10.1093/hmg/ddu344

PMCID:: PMC4222363

Abstract Article PDF–728K

Select item 37107528.

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Anne Gregor, Martin Oti, Evelyn N. Kouwenhoven, Juliane Hoyer, Heinrich Sticht, Arif B. Ekici, Susanne Kjaergaard, Anita Rauch, Hendrik G. Stunnenberg, Steffen Uebe, Georgia Vasileiou, André Reis, Huiqing Zhou, Christiane Zweier

Am J Hum Genet. 2013 Jul 11; 93(1): 124–131. doi: 10.1016/j.ajhg.2013.05.007

PMCID:: PMC3710752

Abstract Article PDF–1.0M

Select item 35285799.

Tcra gene recombination is supported by a Tcra enhancer- and CTCF-dependent chromatin hub

Han-Yu Shih, Jiyoti Verma-Gaur, Ali Torkamani, Ann J. Feeney, Niels Galjart, Michael S. Krangel

Proc Natl Acad Sci U S A. 2012 Dec 11; 109(50): E3493–E3502. Published online 2012 Nov 19. doi: 10.1073/pnas.1214131109

PMCID:: PMC3528579

Abstract Article PDF–1.6M

Select item 343693310.

CTCF-Mediated Functional Chromatin Interactome in Pluripotent Cells

Lusy Handoko, Han Xu, Guoliang Li, Chew Yee Ngan, Elaine Chew, Marie Schnapp, Charlie Wah Heng Lee, Chaopeng Ye, Joanne Lim Hui Ping, Fabianus Mulawadi, Eleanor Wong, Jianpeng Sheng, Yubo Zhang, Thompson Poh, Chee Seng Chan, Galih Kunarso, Atif Shahab, Guillaume Bourque, Valere Cacheux-Rataboul, Wing-Kin Sung, Yijun Ruan, Chia-Lin Wei

Nat Genet. Author manuscript; available in PMC 2012 Sep 8.

Published in final edited form as: Nat Genet. 2011 Jul; 43(7): 630–638. Published online 2011 Jun 19. doi: 10.1038/ng.857

Correction in:: volume 43 on page 815

PMCID:: PMC3436933

Abstract Article PDF–1.1M

Select item 334281211.

CTCF Binding Elements Mediate Control of V(D)J Recombination

Chunguang Guo, Hye Suk Yoon, Andrew Franklin, Suvi Jain, Anja Ebert, Hwei-Ling Cheng, Erica Hansen, Orion Despo, Claudia Bossen, Christian Vettermann, Jamie G. Bates, Nicholas Richards, Darienne Myers, Harin Patel, Michael Gallagher, Mark S. Schlissel, Cornelis Murre, Meinrad Busslinger, Cosmas C. Giallourakis, Frederick W. Alt

Nature. Author manuscript; available in PMC 2012 May 3.

Published in final edited form as: Nature. 2011 Sep 22; 477(7365): 424–430. Published online 2011 Sep 11. doi: 10.1038/nature10495

PMCID:: PMC3342812

Abstract Article PDF–450K

Select item 313942812.

CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense non-coding RNA

Bryce L. Sopher, Paula D. Ladd, Victor V. Pineda, Randell T. Libby, Susan M. Sunkin, James B. Hurley, Cortlandt P. Thienes, Terry Gaasterland, Galina N. Filippova, Albert R. La Spada

Neuron. Author manuscript; available in PMC 2012 Jun 23.

Published in final edited form as: Neuron. 2011 Jun 23; 70(6): 1071–1084. doi: 10.1016/j.neuron.2011.05.027

PMCID:: PMC3139428

Abstract Article PDF–3.0M

Select item 305766413.

The pluripotency factor, Oct4, interacts with Ctcf and also controls X-chromosome pairing and counting

Mary E. Donohoe, Susana S. Silva, Stefan F. Pinter, Na Xu, Jeannie T. Lee

Nature. Author manuscript; available in PMC 2011 Mar 15.

Published in final edited form as: Nature. 2009 Jul 2; 460(7251): 128–132. Published online 2009 Jun 17. doi: 10.1038/nature08098

PMCID:: PMC3057664

Abstract Article PDF–1.2M

Select item 291024814.

Histone Modifications at Human Enhancers Reflect Global Cell Type-Specific Gene Expression

Nathaniel D. Heintzman, Gary C. Hon, R. David Hawkins, Pouya Kheradpour, Alexander Stark, Lindsey F. Harp, Zhen Ye, Leonard K. Lee, Rhona K. Stuart, Christina W. Ching, Keith A. Ching, Jessica E. Antosiewicz, Hui Liu, Xinmin Zhang, Roland D. Green, Ron Stewart, James A. Thomson, Gregory E. Crawford, Manolis Kellis, Bing Ren

Nature. Author manuscript; available in PMC 2010 Jul 27.

Published in final edited form as: Nature. 2009 May 7; 459(7243): 108–112. Published online 2009 Mar 18. doi: 10.1038/nature07829