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Select item 70589301.

The Absence of Calponin 2 in Rabbits Suggests Caution in Choosing Animal Models

Olesya Plazyo, Weilong Hao, Jian-Ping Jin

Front Bioeng Biotechnol. 2020; 8: 42. Published online 2020 Feb 28. doi: 10.3389/fbioe.2020.00042

PMCID:: PMC7058930

Abstract Article PDF–2.4M

Select item 70566462.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Kathleen A. Williamson, H. Nikki Hall, Liusaidh J. Owen, Benjamin J. Livesey, Isabel M. Hanson, G. G. W. Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise Meire, Anthony T. Moore, Michael Parker, Charlotte M. Reiff, Jay Self, Edward S. Tobias, Joke B. G. M. Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David R. FitzPatrick

Genet Med. 2020; 22(3): 598–609. Published online 2019 Nov 8. doi: 10.1038/s41436-019-0685-9

PMCID:: PMC7056646

Abstract Article PDF–1.1M

Select item 70401873.

EMT transcription factor ZEB1 alters the epigenetic landscape of colorectal cancer cells

Pablo Lindner, Sushmita Paul, Markus Eckstein, Chuanpit Hampel, Julienne K. Muenzner, Katharina Erlenbach-Wuensch, Husayn P. Ahmed, Vijayalakshmi Mahadevan, Thomas Brabletz, Arndt Hartmann, Julio Vera, Regine Schneider-Stock

Cell Death Dis. 2020 Feb; 11(2): 147. Published online 2020 Feb 24. doi: 10.1038/s41419-020-2340-4

PMCID:: PMC7040187

Abstract Article PDF–5.5M

Select item 70399964.

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion

Transl Psychiatry. 2020; 10: 77. Published online 2020 Feb 24. doi: 10.1038/s41398-020-0760-7

PMCID:: PMC7039996

Abstract Article PDF–477K

Select item 70271955.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Abstract Article PDF–1.2M

Select item 69865596.

Discovery and Structure-Based Optimization of Potent and Selective WDR5 Inhibitors Containing a Dihydroisoquinolinone Bicyclic Core

Jianhua Tian, Kevin B. Teuscher, Erin R. Aho, Joseph R. Alvarado, Jonathan J. Mills, Kenneth M. Meyers, Rocco D. Gogliotti, Changho Han, Jonathan D. Macdonald, Jiqing Sai, J. Grace Shaw, John L. Sensintaffar, Bin Zhao, Tyson A. Rietz, Lance R. Thomas, William G. Payne, William J. Moore, Gordon M. Stott, Jumpei Kondo, Masahiro Inoue, Robert J. Coffey, William P. Tansey, Shaun R. Stauffer, Taekyu Lee, Stephen W. Fesik

J Med Chem. Author manuscript; available in PMC 2020 Jan 28.

Published in final edited form as: J Med Chem. 2020 Jan 23; 63(2): 656–675. Published online 2020 Jan 7. doi: 10.1021/acs.jmedchem.9b01608

PMCID:: PMC6986559

Abstract Article PDF–2.1M

Select item 69782577.

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly Jones, Cindy D. Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto

Mol Genet Genomic Med. 2020 Jan; 8(1): e1036. Published online 2019 Nov 7. doi: 10.1002/mgg3.1036

PMCID:: PMC6978257

Abstract Article PDF–826K

Select item 69613158.

Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population

Farjana Akther Noor, Nusrat Sultana, Golam Sarower Bhuyan, Md Tarikul Islam, Mohabbat Hossain, Suprovath Kumar Sarker, Khaleda Islam, Waqar Ahmed Khan, Mujahida Rahman, Syeda Kashfi Qadri, Hossain Uddin Shekhar, Firdausi Qadri, Syed Saleheen Qadri, Kaiissar Mannoor

Orphanet J Rare Dis. 2020; 15: 15. Published online 2020 Jan 15. doi: 10.1186/s13023-020-1294-z

PMCID:: PMC6961315

Abstract Article PDF–1.0M

Select item 69408509.

Epigenetic Modification as a Regulatory Mechanism for Spatiotemporal Dynamics of ANO1 Expression in Salivary Glands

Yonghwan Shin, Sang-Woo Lee, Eun Namkoong, Woojin An, Jong-Ho Lee, Peter D Brown, Kyungpyo Park

Int J Mol Sci. 2019 Dec; 20(24): 6298. Published online 2019 Dec 13. doi: 10.3390/ijms20246298

PMCID:: PMC6940850

Abstract Article PDF–3.0M

Select item 693318510.

Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia

ZaenalAdi Susanto, Wahyu Siswandari, Lantip Rujito

Mol Genet Metab Rep. 2020 Mar; 22: 100550. Published online 2019 Dec 20. doi: 10.1016/j.ymgmr.2019.100550

PMCID:: PMC6933185

Abstract Article PDF–544K

Select item 690039311.

Gene‐level genome‐wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican population

Thelma Beatriz González‐Castro, José Jaime Martínez‐Magaña, Carlos Alfonso Tovilla‐Zárate, Isela Esther Juárez‐Rojop, Emmanuel Sarmiento, Alma Delia Genis‐Mendoza, Humberto Nicolini

Mol Genet Genomic Med. 2019 Dec; 7(12): e983. Published online 2019 Oct 2. doi: 10.1002/mgg3.983

PMCID:: PMC6900393

Abstract Article PDF–604K

Select item 688362712.

Validation of an epigenetic field of susceptibility to detect significant prostate cancer from non-tumor biopsies

Bing Yang, Tyler Etheridge, Johnathon McCormick, Adam Schultz, Tariq A. Khemees, Nathan Damaschke, Glen Leverson, Kaitlin Woo, Geoffrey A. Sonn, Eric A. Klein, Mike Fumo, Wei Huang, David F. Jarrard

Clin Epigenetics. 2019; 11: 168. Published online 2019 Nov 28. doi: 10.1186/s13148-019-0771-5

PMCID:: PMC6883627

Abstract Article PDF–807K

Select item 687931813.

Effect of MALAT1 Polymorphisms on Papillary Thyroid Cancer in a Chinese Population

Jing Wen, Liang Chen, Hua Tian, Ji Li, Miao Zhang, Qing Cao, Wei Zhang, Shi Chen, Lixin Shi

J Cancer. 2019; 10(23): 5714–5721. Published online 2019 Sep 19. doi: 10.7150/jca.28887

PMCID:: PMC6879318

Abstract Article PDF–921K

Select item 684230514.

Discovery of Potent 2-Aryl-6,7-Dihydro-5H-Pyrrolo[1,2-a]imidazoles as WDR5 WIN-site Inhibitors Using Fragment-Based Methods and Structure-Based Design

Feng Wang, Kyu Ok Jeon, James M. Salovich, Jonathan D. Macdonald, Joseph Alvarado, Rocco D. Gogliotti, Jason Phan, Edward T. Olejniczak, Qi Sun, Shidong Wang, DeMarco Camper, Joannes P. Yuh, J. Grace Shaw, Jiqing Sai, Olivia W. Rossanese, William P. Tansey, Shaun R. Stauffer, Stephen W. Fesik

J Med Chem. Author manuscript; available in PMC 2019 Nov 9.

Published in final edited form as: J Med Chem. 2018 Jul 12; 61(13): 5623–5642. Published online 2018 Jun 29. doi: 10.1021/acs.jmedchem.8b00375

PMCID:: PMC6842305

Abstract Article PDF–2.3M

Select item 682119515.

The internal interaction in RBBP5 regulates assembly and activity of MLL1 methyltransferase complex

Jianming Han, Tingting Li, Yanjing Li, Muchun Li, Xiaoman Wang, Chao Peng, Chen Su, Na Li, Yiwen Li, Ying Xu, Yong Chen

Nucleic Acids Res. 2019 Nov 4; 47(19): 10426–10438. Published online 2019 Sep 23. doi: 10.1093/nar/gkz819

PMCID:: PMC6821195

Abstract Article PDF–3.9M

Select item 681857616.

Hb I: A α‐globin chain variant causing unexpected HbA_1c results

Anping Xu, Jian Sun, Jie Li, Weidong Chen, Ruoyang Zheng, Zhonghou Han, Ling Ji

J Clin Lab Anal. 2019 Feb; 33(2): e22671. Published online 2018 Sep 17. doi: 10.1002/jcla.22671

PMCID:: PMC6818576

Abstract Article PDF–474K

Select item 681717917.

Rapid Screening for Deleted Form of β‐thalassemia by Real‐Time Quantitative PCR

Liang‐Yin Ke, Jan‐Gowth Chang, Chao‐Sung Chang, Li‐Ling Hsieh, Ta‐Chih Liu

J Clin Lab Anal. 2017 Jan; 31(1): e22019. Published online 2016 Aug 16. doi: 10.1002/jcla.22019

PMCID:: PMC6817179

Abstract Article PDF–277K

Select item 677551018.

The voltage-gated sodium channel Na_v1.7 associated with endometrial cancer

Junxiu Liu, Hao Tan, Wancai Yang, Shuzhong Yao, Liang Hong

J Cancer. 2019; 10(20): 4954–4960. Published online 2019 Aug 27. doi: 10.7150/jca.31544

PMCID:: PMC6775510

Abstract Article PDF–774K

Select item 675512519.

The MLL1 trimeric catalytic complex is a dynamic conformational ensemble stabilized by multiple weak interactions

Lilia Kaustov, Alexander Lemak, Hong Wu, Marco Faini, Lixin Fan, Xianyang Fang, Hong Zeng, Shili Duan, Abdellah Allali-Hassani, Fengling Li, Yong Wei, Masoud Vedadi, Ruedi Aebersold, Yunxing Wang, Scott Houliston, Cheryl H Arrowsmith

Nucleic Acids Res. 2019 Sep 26; 47(17): 9433–9447. Published online 2019 Aug 10. doi: 10.1093/nar/gkz697

PMCID:: PMC6755125

Abstract Article PDF–3.8M

Select item 674502820.

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3

Xueshan Xiao, Wenmin Sun, Jiamin Ouyang, Shiqiang Li, Xiaoyun Jia, Zhiqun Tan, J. Fielding Hejtmancik, Qingjiong Zhang

Hum Genet. 2019; 138(10): 1077–1090. Published online 2019 Jun 6. doi: 10.1007/s00439-019-02039-z

PMCID:: PMC6745028

Abstract Article PDF–5.3M

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