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Select item 70570901.

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations

Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo‐Kyoung Nam, Young‐Jun Rhie, Seung Yang, Kee‐Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang

Mol Genet Genomic Med. 2020 Mar; 8(3): e1146. Published online 2020 Jan 20. doi: 10.1002/mgg3.1146

PMCID:: PMC7057090

Abstract Article PDF–890K

Select item 70271952.

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 70161653.

The Biomarker TCONS_00016233 Drives Septic AKI by Targeting the miR-22-3p/AIFM1 Signaling Axis

Pan Zhang, Lei Yi, Siyuan Qu, Jinzhong Dai, Xiaozhou Li, Bohao Liu, Huiling Li, Kai Ai, Peilin Zheng, Shuangfa Qiu, Yijian Li, Yinhuai Wang, Xudong Xiang, Xiangping Chai, Zheng Dong, Dongshan Zhang

Mol Ther Nucleic Acids. 2020 Mar 6; 19: 1027–1042. Published online 2020 Jan 14. doi: 10.1016/j.omtn.2019.12.037

PMCID:: PMC7016165

Abstract Article PDF–4.0M

Select item 69926474.

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric K_Na1.1/K_Na1.2 Potassium Channel

Xiao Mao, Nadine Bruneau, Quwen Gao, Hélène Becq, Zhengjun Jia, Hui Xi, Li Shu, Hua Wang, Pierre Szepetowski, Laurent Aniksztejn

Front Cell Neurosci. 2020; 14: 1. Published online 2020 Jan 24. doi: 10.3389/fncel.2020.00001

PMCID:: PMC6992647

Abstract Article PDF–2.8M

Select item 69860215.

The role of the redox/miR-6855-3p/PRDX5A axis in reversing SLUG-mediated BRCA2 silencing in breast cancer cells

Marshall Ellison, Mukul Mittal, Minu Chaudhuri, Gautam Chaudhuri, Smita Misra

Cell Commun Signal. 2020; 18: 15. Published online 2020 Jan 27. doi: 10.1186/s12964-019-0493-5

PMCID:: PMC6986021

Abstract Article PDF–3.5M

Select item 68586806.

Mechanisms regulating PD-L1 expression on tumor and immune cells

Shuming Chen, George A. Crabill, Theresa S. Pritchard, Tracee L. McMiller, Ping Wei, Drew M. Pardoll, Fan Pan, Suzanne L. Topalian

J Immunother Cancer. 2019; 7: 305. Published online 2019 Nov 15. doi: 10.1186/s40425-019-0770-2

PMCID:: PMC6858680

Abstract Article PDF–1.6M

Select item 68583427.

Comprehensive Analysis of the Expression Profiles of Long Non-Coding RNAs with Associated ceRNA Network Involved in the Colon Cancer Staging and Progression

Meini Wu, Wenliang Li, Fengchang Huang, Jing Sun, Kang ping Li, Jiandong Shi, Jingyu Yang, Jianfang Li, Yanhan Li, Ningzhu Hu, YunZhang Hu

Sci Rep. 2019; 9: 16910. Published online 2019 Nov 15. doi: 10.1038/s41598-019-52883-2

PMCID:: PMC6858342

Abstract Article PDF–4.1M

Select item 66876198.

Association of BCR/ABL transcript variants with different blood parameters and demographic features in Iraqi chronic myeloid leukemia patients

Mahmood S. Khazaal, Farqad B. Hamdan, Qasim S. Al‐Mayah

Mol Genet Genomic Med. 2019 Aug; 7(8): e809. Published online 2019 Jun 17. doi: 10.1002/mgg3.809

PMCID:: PMC6687619

Abstract Article PDF–541K

Select item 66607009.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 664242810.

Genetic Polymorphisms within The Intronless ACTL7A and ACTL7B Genes Encoding Spermatogenesis-Specific Actin-Like Proteins in Japanese Males

Hiromitsu Tanaka, Yasushi Miyagawa, Akira Tsujimura, Morimasa Wada

Int J Fertil Steril. 2019 Oct-Dec; 13(3): 245–249. Published online 2019 Jul 14. doi: 10.22074/ijfs.2019.5702

PMCID:: PMC6642428

Abstract Article PDF–867K

Select item 653659211.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

Front Neurol. 2019; 10: 434. Published online 2019 May 21. doi: 10.3389/fneur.2019.00434

PMCID:: PMC6536592

Abstract Article PDF–405K

Select item 650301312.

Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China

Chan Zhang, Weiwei Guo, Yujing Cheng, Qi Li, Xin Yang, Run Dai, Linhao Zhu, Wanlu Chen

Mol Genet Genomic Med. 2019 May; 7(5): e574. Published online 2019 Apr 5. doi: 10.1002/mgg3.574

PMCID:: PMC6503013

Abstract Article PDF–1.2M

Select item 639012913.

The associations between Toll-like receptor 4 gene polymorphisms and hepatitis C virus infection: a systematic review and meta-analysis

Narttaya Chaiwiang, Teera Poyomtip

Biosci Rep. 2019 Feb 28; 39(2): BSR20182470. Prepublished online 2019 Feb 14. Published online 2019 Feb 26. doi: 10.1042/BSR20182470

PMCID:: PMC6390129

Abstract Article PDF–856K

Select item 638973414.

Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations

Guido Rubboli, Giuseppe Plazzi, Fabienne Picard, Lino Nobili, Edouard Hirsch, Jamel Chelly, Richard A. Prayson, Jean Boutonnat, Manuela Bramerio, Philippe Kahane, Leanne M. Dibbens, Elena Gardella, Stéphanie Baulac, Rikke S. Møller

Ann Clin Transl Neurol. 2019 Feb; 6(2): 386–391. Published online 2018 Dec 25. doi: 10.1002/acn3.708

PMCID:: PMC6389734

Abstract Article PDF–343K

Select item 632764115.

Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome

Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang

Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068

PMCID:: PMC6327641

Abstract Article PDF–3.7M

Select item 627729616.

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

Robertino Dilena, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Antonella Giacobbe, Paolo Ambrosino, Ilaria Mosca, Maria Albina Galli, Sophie Guez, Monica Fumagalli, Francesco Miceli, Dario Cattaneo, Francesca Darra, Elena Gennaro, Federico Zara, Pasquale Striano, Barbara Castellotti, Cinzia Gellera, Costanza Varesio, Pierangelo Veggiotti, Maurizio Taglialatela

Neurotherapeutics. 2018 Oct; 15(4): 1112–1126. Published online 2018 Aug 15. doi: 10.1007/s13311-018-0657-9