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Select item 103856421.

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome

Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Živilė Maldžienė, Aušra Sasnauskienė, Vilmantė Žitkutė, Laima Ambrozaitytė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė

Medicina (Kaunas) 2023 Jul; 59(7): 1225. Published online 2023 Jun 29. doi: 10.3390/medicina59071225

PMCID:: PMC10385642

Abstract Article PDF–1.5M

Select item 82588382.

The MED13L Haploinsufficiency Syndrome Associated with De Novo Nonsense Variant (P.GLN1981*)

Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński, Wojciech Wiszniewski, Monika Gos, Piotr Stawiński, Małgorzata Rydzanicz, Joanna Kosińska, Paweł Własienko, Olga Malinowska Kordowska, Magdalena Bartnik-Głaska, Joanna Bernaciak, Krzysztof Szczałuba, Monika Bekiesińska-Figatowska, Rafał Płoski, Jerzy Bal, Sylwia Olimpia Rzońca-Niewczas

J Mother Child. 2020 Dec; 24(3): 32–36. Published online 2021 Apr 30. doi: 10.34763/jmotherandchild.20202403.2021.d-20-00003

PMCID:: PMC8258838

Abstract Article PDF–483K

Select item 74158173.

MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity

Nasha Zhang, Yemei Song, Yeyang Xu, Jiandong Liu, Yue Shen, Liqing Zhou, Jinming Yu, Ming Yang

Theranostics. 2020; 10(20): 9378–9394. Published online 2020 Jul 23. doi: 10.7150/thno.48247

PMCID:: PMC7415817

Abstract Article PDF–3.7M

Select item 46134664.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Concetta Cafiero, Giuseppe Marangi, Daniela Orteschi, Marwan Ali, Alessia Asaro, Emanuela Ponzi, Alice Moncada, Stefania Ricciardi, Marina Murdolo, Giorgia Mancano, Ilaria Contaldo, Vincenzo Leuzzi, Domenica Battaglia, Eugenio Mercuri, Anne M Slavotinek, Marcella Zollino

Eur J Hum Genet. 2015 Oct; 23(11): 1499–1504. Published online 2015 Feb 25. doi: 10.1038/ejhg.2015.19

PMCID:: PMC4613466

Abstract Article PDF–695K

Select item 45920995.

Redefining the MED13L syndrome

Abidemi Adegbola, Luciana Musante, Bert Callewaert, Patricia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker-Minh, Cedric Le Caignec, Barbara Delle Chiaie, Olivier Vanakker, Björn Menten, Annelies Dheedene, Nele Bockaert, Filip Roelens, Karin Decaestecker, João Silva, Gabriela Soares, Fátima Lopes, Hossein Najmabadi, Kimia Kahrizi, Gerald F Cox, Steven P Angus, John F Staropoli, Ute Fischer, Vanessa Suckow, Oliver Bartsch, Andrew Chess, Hans-Hilger Ropers, Thomas F Wienker, Christoph Hübner, Angela M Kaindl, Vera M Kalscheuer

Eur J Hum Genet. 2015 Oct; 23(10): 1308–1317. Published online 2015 Mar 11. doi: 10.1038/ejhg.2015.26

PMCID:: PMC4592099

Abstract Article PDF–735K

Select item 42667496.

Further confirmation of the MED13L haploinsufficiency syndrome

Mieke M van Haelst, Glen R Monroe, Karen Duran, Ellen van Binsbergen, Johannes M Breur, Jacques C Giltay, Gijs van Haaften

Eur J Hum Genet. 2015 Jan; 23(1): 135–138. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.69

PMCID:: PMC4266749

Abstract Article PDF–430K

Select item 37783557.

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

Reza Asadollahi, Beatrice Oneda, Frenny Sheth, Silvia Azzarello-Burri, Rosa Baldinger, Pascal Joset, Beatrice Latal, Walter Knirsch, Soaham Desai, Alessandra Baumer, Gunnar Houge, Joris Andrieux, Anita Rauch

Eur J Hum Genet. 2013 Oct; 21(10): 1100–1104. Published online 2013 Feb 13. doi: 10.1038/ejhg.2013.17

PMCID:: PMC3778355

Abstract Article PDF–661K

Select item 37071218.

A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest

Steven P. Angus, Joseph R. Nevins

Oncogene. Author manuscript; available in PMC 2013 Jul 10.

Published in final edited form as: Oncogene. 2012 Nov 1; 31(44): 4709–4717. Published online 2012 Jan 16. doi: 10.1038/onc.2011.622

PMCID:: PMC3707121

Abstract Article PDF–1.7M

Select item 41738599.

The clinical significance of small copy number variants in neurodevelopmental disorders

Reza Asadollahi, Beatrice Oneda, Pascal Joset, Silvia Azzarello-Burri, Deborah Bartholdi, Katharina Steindl, Marie Vincent, Joana Cobilanschi, Heinrich Sticht, Rosa Baldinger, Regina Reissmann, Irene Sudholt, Christian T Thiel, Arif B Ekici, André Reis, Emilia K Bijlsma, Joris Andrieux, Anne Dieux, David FitzPatrick, Susanne Ritter, Alessandra Baumer, Beatrice Latal, Barbara Plecko, Oskar G Jenni, Anita Rauch

J Med Genet. 2014 Oct; 51(10): 677–688. Published online 2014 Aug 8. doi: 10.1136/jmedgenet-2014-102588

PMCID:: PMC4173859

Abstract Article PDF–5.8M

Select item 325735610.

Meta-analysis of New Genome-wide Association Studies of Colorectal Cancer Risk

Ulrike Peters, Carolyn M. Hutter, Li Hsu, Fredrick R. Schumacher, David V. Conti, Christopher S. Carlson, Christopher K. Edlund, Robert W. Haile, Steven Gallinger, Brent W. Zanke, Mathieu Lemire, Jagadish Rangrej, Raakhee Vijayaraghavan, Andrew T. Chan, Aditi Hazra, David J. Hunter, Jing Ma, Charles S. Fuchs, Edward L. Giovannucci, Peter Kraft, Yan Liu, Lin Chen, Shuo Jiao, Karen W. Makar, Darin Taverna, Stephen B. Gruber, Gad Rennert, Victor Moreno, Cornelia M. Ulrich, Michael O. Woods, Roger C. Green, Patrick S. Parfrey, Ross L. Prentice, Charles Kooperberg, Rebecca D. Jackson, Andrea Z. LaCroix, Bette J. Caan, Richard B. Hayes, Sonja I. Berndt, Stephen J. Chanock, Robert E. Schoen, Jenny Chang-Claude, Michael Hoffmeister, Hermann Brenner, Bernd Frank, Stéphane Bézieau, Sébastien Küry, Martha L. Slattery, John L. Hopper, Mark A. Jenkins, Loic Le Marchand, Noralane M. Lindor, Polly A. Newcomb, Daniela Seminara, Thomas J. Hudson, David J. Duggan, John D. Potter, Graham Casey

Hum Genet. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Hum Genet. 2012 Feb; 131(2): 217–234. Published online 2011 Jul 15. doi: 10.1007/s00439-011-1055-0

PMCID:: PMC3257356

Abstract Article PDF–448K

Select item 505203911.

Diverse alternative back-splicing and alternative splicing landscape of circular RNAs

Xiao-Ou Zhang, Rui Dong, Yang Zhang, Jia-Lin Zhang, Zheng Luo, Jun Zhang, Ling-Ling Chen, Li Yang

Genome Res. 2016 Sep; 26(9): 1277–1287. doi: 10.1101/gr.202895.115

PMCID:: PMC5052039

Abstract Article PDF–2.1M

Select item 368142912.

HIF1A employs CDK8-Mediator to stimulate RNAPII elongation

Matthew D. Galbraith, Mary A. Allen, Claire L. Bensard, Xiaoxing Wang, Marie K. Schwinn, Bo Qin, Henry W. Long, Danette L. Daniels, William C. Hahn, Robin D. Dowell, Joaquín M. Espinosa

Cell. Author manuscript; available in PMC 2014 Jun 6.

Published in final edited form as: Cell. 2013 Jun 6; 153(6): 1327–1339. doi: 10.1016/j.cell.2013.04.048

PMCID:: PMC3681429

Abstract Article PDF–2.7M

Select item 720600813.

FBXO45-MYCBP2 regulates mitotic cell fate by targeting FBXW7 for degradation

Kai T. Richter, Yvonne T. Kschonsak, Barbara Vodicska, Ingrid Hoffmann

Cell Death Differ. 2020 Feb; 27(2): 758–772. Published online 2019 Jul 8. doi: 10.1038/s41418-019-0385-7

PMCID:: PMC7206008

Abstract Article PDF–2.8M

Select item 430379814.

Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension

Xiangfeng Lu, Laiyuan Wang, Xu Lin, Jianfeng Huang, C. Charles Gu, Meian He, Hongbing Shen, Jiang He, Jingwen Zhu, Huaixing Li, James E. Hixson, Tangchun Wu, Juncheng Dai, Ling Lu, Chong Shen, Shufeng Chen, Lin He, Zengnan Mo, Yongchen Hao, Xingbo Mo, Xueli Yang, Jianxin Li, Jie Cao, Jichun Chen, Zhongjie Fan, Ying Li, Liancheng Zhao, Hongfan Li, Fanghong Lu, Cailiang Yao, Lin Yu, Lihua Xu, Jianjun Mu, Xianping Wu, Ying Deng, Dongsheng Hu, Weidong Zhang, Xu Ji, Dongshuang Guo, Zhirong Guo, Zhengyuan Zhou, Zili Yang, Renping Wang, Jun Yang, Xiaoyang Zhou, Weili Yan, Ningling Sun, Pingjin Gao, Dongfeng Gu

Hum Mol Genet. 2015 Feb 1; 24(3): 865–874. Published online 2014 Sep 23. doi: 10.1093/hmg/ddu478

PMCID:: PMC4303798

Abstract Article PDF–408K

Select item 356630715.

The SCF–Fbw7 ubiquitin ligase degrades MED13 and MED13L and regulates CDK8 module association with Mediator

Michael A. Davis, Elizabeth A. Larimore, Brian M. Fissel, Jherek Swanger, Dylan J. Taatjes, Bruce E. Clurman

Genes Dev. 2013 Jan 15; 27(2): 151–156. doi: 10.1101/gad.207720.112

PMCID:: PMC3566307

Abstract Article PDF–1.2M

Select item 447459916.

DNA Damage Regulates Translation through β-TRCP Targeting of CReP

Theresa B. Loveless, Benjamin R. Topacio, Ajay A. Vashisht, Shastyn Galaang, Katie M. Ulrich, Brian D. Young, James A. Wohlschlegel, David P. Toczyski

PLoS Genet. 2015 Jun; 11(6): e1005292. Published online 2015 Jun 19. doi: 10.1371/journal.pgen.1005292

PMCID:: PMC4474599

Abstract Article PDF–12M

Select item 786343017.

Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation

Xiaoqing Fan, Haoran Yang, Chenggang Zhao, Lizhu Hu, Delong Wang, Ruiting Wang, Zhiyou Fang, Xueran Chen

Stem Cell Res Ther. 2021; 12: 107. Published online 2021 Feb 4. doi: 10.1186/s13287-021-02175-2

PMCID:: PMC7863430

Abstract Article PDF–6.5M

Select item 314532518.

Human Mediator Subunit Med26 Functions As A Docking Site For Transcription Elongation Factors

Hidehisa Takahashi, Tari J. Parmely, Shigeo Sato, Chieri Tomomori-Sato, Charles A. S. Banks, Stephanie E. Kong, Henrietta Szutorisz, Selene K. Swanson, Skylar Martin-Brown, Michael P. Washburn, Laurence Florens, Chris Seidel, Chengqi Lin, Edwin R. Smith, Ali Shilatifard, Ronald C. Conaway, Joan W. Conaway

Cell. Author manuscript; available in PMC 2012 Jul 8.

Published in final edited form as: Cell. 2011 Jul 8; 146(1): 92–104. doi: 10.1016/j.cell.2011.06.005

PMCID:: PMC3145325

Abstract Article PDF–1.9M

Select item 440166219.

FBXW7 modulates cellular stress response and metastatic potential via HSF1 post-translational modification

Nikos Kourtis, Rana S. Moubarak, Beatriz Aranda-Orgilles, Kevin Lui, Iraz T. Aydin, Thomas Trimarchi, Farbod Darvishian, Christine Salvaggio, Judy Zhong, Kamala Bhatt, Emily I. Chen, Julide T. Celebi, Charalampos Lazaris, Aristotelis Tsirigos, Iman Osman, Eva Hernando, Iannis Aifantis

Nat Cell Biol. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Nat Cell Biol. 2015 Mar; 17(3): 322–332. doi: 10.1038/ncb3121

PMCID:: PMC4401662

Abstract Article PDF–5.0M

Select item 805077520.

Proximity-dependent Mapping of the Androgen Receptor Identifies Kruppel-like Factor 4 as a Functional Partner

Lauriane Vélot, Frédéric Lessard, Félix-Antoine Bérubé-Simard, Christophe Tav, Bertrand Neveu, Valentine Teyssier, Imène Boudaoud, Ugo Dionne, Noémie Lavoie, Steve Bilodeau, Frédéric Pouliot, Nicolas Bisson

Mol Cell Proteomics. 2021; 20: 100064. Published online 2021 Feb 26. doi: 10.1016/j.mcpro.2021.100064

PMCID:: PMC8050775

Abstract Article PDF–3.6M

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