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Items: 1 to 20 of 46

1.
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
AbstractArticlePDF–1.5M
2.
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
AbstractArticlePDF–483K
3.
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
AbstractArticlePDF–3.7M
4.
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
AbstractArticlePDF–695K
5.
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
AbstractArticlePDF–735K
6.
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
AbstractArticlePDF–430K
7.
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
AbstractArticlePDF–661K
8.
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
AbstractArticlePDF–1.7M
9.
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
AbstractArticlePDF–5.8M
10.
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
AbstractArticlePDF–448K
11.
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
AbstractArticlePDF–2.1M
12.
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
AbstractArticlePDF–2.7M
13.
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
AbstractArticlePDF–2.8M
14.
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
AbstractArticlePDF–408K
15.
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
AbstractArticlePDF–1.2M
16.
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
AbstractArticlePDF–12M
17.
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
AbstractArticlePDF–6.5M
18.
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
AbstractArticlePDF–1.9M
19.
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
AbstractArticlePDF–5.0M
20.
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
AbstractArticlePDF–3.6M

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