PMC Links for Books (Select 5609452) - PMC

Select item 101605501.

CTCF variant begets to short stature by down-regulation of IGF1

Hong Chen, Weiyu Li, Suping Zhang, Yunteng Sun, Yiping Shen, Ruimin Chen

J Mol Endocrinol. 2023 May 1; 70(4): e220193. Prepublished online 2023 Feb 27. Published online 2023 Apr 6. doi: 10.1530/JME-22-0193

PMCID:: PMC10160550

Abstract Article PDF–2.1M

Select item 99286062.

Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review

Hannah Gabriela Valverde de Morales, Hsiao-Lin V. Wang, Kathryn Garber, Xiaodong Cheng, Victor G. Corces, Hong Li

Am J Med Genet A. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: Am J Med Genet A. 2023 Mar; 191(3): 718–729. Published online 2022 Dec 1. doi: 10.1002/ajmg.a.63065

PMCID:: PMC9928606

Abstract Article PDF–1.4M

Select item 98228843.

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Bart P. G. H. van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B. A. de Vries, Martina Ruiterkamp-Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P. Stegmann, Servi J. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel R. Nelen, Lisenka E. L. M. Vissers

Eur J Hum Genet. 2023 Jan; 31(1): 81–88. Published online 2022 Sep 16. doi: 10.1038/s41431-022-01185-9

PMCID:: PMC9822884

Abstract Article PDF–1.8M

Select item 96265374.

Germline variant in Ctcf links mental retardation to Wilms tumor predisposition

Pablo Gargallo, Silvestre Oltra, María Tasso, Julia Balaguer, Yania Yáñez, Sandra Dolz, Inés Calabria, Francisco Martínez, Vanessa Segura, Antonio Juan-Ribelles, Margarita Llavador, Victoria Castel, Adela Cañete, Jaime Font de Mora

Eur J Hum Genet. 2022 Nov; 30(11): 1288–1291. Published online 2022 Apr 22. doi: 10.1038/s41431-022-01105-x

PMCID:: PMC9626537

Abstract Article PDF–1.3M

Select item 94637575.

The role of exome sequencing in childhood interstitial or diffuse lung disease

Suzanna E. L. Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, André Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald, Hiran Selvadurai, Andrew Tai, Zornitza Stark, Adam Jaffe

Orphanet J Rare Dis. 2022; 17: 350. Published online 2022 Sep 9. doi: 10.1186/s13023-022-02508-1

PMCID:: PMC9463757

Abstract Article PDF–1.1M

Select item 83731156.

CTCF as a regulator of alternative splicing: new tricks for an old player

Adel B Alharbi, Ulf Schmitz, Charles G Bailey, John E J Rasko

Nucleic Acids Res. 2021 Aug 20; 49(14): 7825–7838. Published online 2021 Jun 28. doi: 10.1093/nar/gkab520

PMCID:: PMC8373115

Abstract Article PDF–2.0M

Select item 72519267.

Distinct Classes of Chromatin Loops Revealed by Deletion of an RNA-Binding Region in CTCF

Anders S. Hansen, Tsung-Han S. Hsieh, Claudia Cattoglio, Iryna Pustova, Ricardo Saldaña-Meyer, Danny Reinberg, Xavier Darzacq, Robert Tjian

Mol Cell. Author manuscript; available in PMC 2020 May 27.

Published in final edited form as: Mol Cell. 2019 Nov 7; 76(3): 395–411.e13. Published online 2019 Sep 12. doi: 10.1016/j.molcel.2019.07.039

PMCID:: PMC7251926

Abstract Article PDF–4.1M

Select item 71958418.

RNA Interactions Are Essential for CTCF-Mediated Genome Organization

Ricardo Saldaña-Meyer, Javier Rodriguez-Hernaez, Thelma Escobar, Mayilaadumveettil Nishana, Karina Jácome-López, Elphege P. Nora, Benoit G. Bruneau, Aristotelis Tsirigos, Mayra Furlan-Magaril, Jane Skok, Danny Reinberg

Mol Cell. Author manuscript; available in PMC 2020 May 2.

Published in final edited form as: Mol Cell. 2019 Nov 7; 76(3): 412–422.e5. Published online 2019 Sep 12. doi: 10.1016/j.molcel.2019.08.015

PMCID:: PMC7195841

Abstract Article PDF–2.3M

Select item 68927449.

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 554206710.

Structural basis for the versatile and methylation-dependent binding of CTCF to DNA

Hideharu Hashimoto, Dongxue Wang, John R. Horton, Xing Zhang, Victor G. Corces, Xiaodong Cheng

Mol Cell. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Mol Cell. 2017 Jun 1; 66(5): 711–720.e3. Published online 2017 May 18. doi: 10.1016/j.molcel.2017.05.004

PMCID:: PMC5542067

Abstract Article PDF–819K

Select item 477139711.

Medical management of epileptic seizures: challenges and solutions

Anand K Sarma, Nabil Khandker, Lisa Kurczewski, Gretchen M Brophy

Neuropsychiatr Dis Treat. 2016; 12: 467–485. Published online 2016 Feb 24. doi: 10.2147/NDT.S80586

PMCID:: PMC4771397

Abstract Article PDF–504K

Select item 454475312.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 431620013.

Locus-specific targeting to the X-chromosome revealed by the RNA interactome of CTCF

Johnny T. Kung, Barry Kesner, Jee Young An, Janice Y. Ahn, Catherine Cifuentes-Rojas, David Colognori, Yesu Jeon, Attila Szanto, Brian C. del Rosario, Stefan F. Pinter, Jennifer A. Erwin, Jeannie T. Lee

Mol Cell. Author manuscript; available in PMC 2016 Jan 22.

Published in final edited form as: Mol Cell. 2015 Jan 22; 57(2): 361–375. Published online 2015 Jan 8. doi: 10.1016/j.molcel.2014.12.006

PMCID:: PMC4316200

Abstract Article PDF–1.4M

Select item 371075214.

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 304011615.

CTCF: Master Weaver of the Genome

Jennifer E. Phillips, Victor G. Corces

Cell. Author manuscript; available in PMC 2011 Feb 16.

Published in final edited form as: Cell. 2009 Jun 26; 137(7): 1194–1211. doi: 10.1016/j.cell.2009.06.001

PMCID:: PMC3040116

Abstract Article PDF–1.8M

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