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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

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

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

Article PDF–4.0M

Select item 69957334.

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu

Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31

PMCID:: PMC6995733

Article PDF–1.1M

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

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

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

Article PDF–4.1M

Select item 68261928.

The p97–Ataxin 3 complex regulates homeostasis of the DNA damage response E3 ubiquitin ligase RNF8

Abhay Narayan Singh, Judith Oehler, Ignacio Torrecilla, Susan Kilgas, Shudong Li, Bruno Vaz, Claire Guérillon, John Fielden, Esperanza Hernandez‐Carralero, Elisa Cabrera, Iain DC Tullis, Mayura Meerang, Paul R Barber, Raimundo Freire, Jason Parsons, Borivoj Vojnovic, Anne E Kiltie, Niels Mailand, Kristijan Ramadan

EMBO J. 2019 Nov 4; 38(21): e102361. Published online 2019 Oct 15. doi: 10.15252/embj.2019102361

PMCID:: PMC6826192

Article PDF–7.3M

Select item 67426469.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Article PDF–1.2M

Select item 672775910.

VCP/p97 controls signals of the ERK1/2 pathway transmitted via the Shoc2 scaffolding complex: novel insights into IBMPFD pathology

HyeIn Jang, Eun Ryoung Jang, Patricia G. Wilson, Daniel Anderson, Emilia Galperin

Mol Biol Cell. 2019 Jul 1; 30(14): 1655–1663. doi: 10.1091/mbc.E19-03-0144

PMCID:: PMC6727759

Article PDF–1.3M

Select item 668761911.

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

Article PDF–541K

Select item 664242812.

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

Article PDF–867K

Select item 650301313.

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

Article PDF–1.2M

Select item 639856114.

Next Generation Sequencing Analysis in Early Onset Dementia Patients

Cristian Bonvicini, Catia Scassellati, Luisa Benussi, Emilio Di Maria, Carlo Maj, Miriam Ciani, Silvia Fostinelli, Anna Mega, Martina Bocchetta, Gaetana Lanzi, Edoardo Giacopuzzi, Sergio Ferraboli, Michela Pievani, Virginia Fedi, Carlo Alberto Defanti, Silvia Giliani, Alzheimer’s Disease Neuroimaging Initiative, Giovanni Battista Frisoni, Roberta Ghidoni, Massimo Gennarelli

J Alzheimers Dis. 2019; 67(1): 243–256. Prepublished online 2018 Dec 3. Published online 2019 Jan 8. doi: 10.3233/JAD-180482