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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 69860214.

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 68684965.

Mutations of R882 change flanking sequence preferences of the DNA methyltransferase DNMT3A and cellular methylation patterns

Max Emperle, Sabrina Adam, Stefan Kunert, Michael Dukatz, Annika Baude, Christoph Plass, Philipp Rathert, Pavel Bashtrykov, Albert Jeltsch

Nucleic Acids Res. 2019 Dec 2; 47(21): 11355–11367. Published online 2019 Oct 17. doi: 10.1093/nar/gkz911

PMCID:: PMC6868496

Article PDF–3.8M

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 68513938.

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari, Théo Ribierre, Elise Marsan, Homa Adle-Biassette, Sarah Ferrand-Sorbets, Christine Bulteau, Nathalie Dorison, Martine Fohlen, Marc Polivka, Sarah Weckhuysen, Georg Dorfmüller, Mathilde Chipaux, Stéphanie Baulac

Acta Neuropathol. 2019; 138(6): 885–900. Published online 2019 Aug 23. doi: 10.1007/s00401-019-02061-5

PMCID:: PMC6851393

Article PDF–2.6M

Select item 68027369.

A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II

Shanshan Zhao, Zhenghui Li, Muxian Zhang, Lingliang Zhang, Honghua Zheng, Jinhuan Ning, Yanyan Wang, Fengpeng Wang, Xiaobin Zhang, Hexia Gan, Yuanqing Wang, Xian Zhang, Hong Luo, Guojun Bu, Huaxi Xu, Yi Yao, Yun-wu Zhang

Exp Mol Med. 2019 Jul; 51(7): 84. Published online 2019 Jul 23. doi: 10.1038/s12276-019-0277-4

PMCID:: PMC6802736

Article PDF–1.6M

Select item 668761910.

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 664242811.

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 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

Article PDF–1.2M

Select item 646567113.

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period

Ori Eyal, Michal Berkenstadt, Haike Reznik‐Wolf, Hana Poran, Tomer Ziv‐Baran, Lior Greenbaum, Hagit Yonath, Elon Pras

Mol Genet Genomic Med. 2019 Apr; 7(4): e00573. Published online 2019 Jan 28. doi: 10.1002/mgg3.573

PMCID:: PMC6465671

Article PDF–401K

Select item 642288514.

Survival prediction of tuberous sclerosis complex gene variant in patients with advanced non-small-cell lung cancer treated with platinum doublet

Jeong-Seon Ryu, Jun Hyeok Lim, Hyun-Jung Kim, Min Jeong Kim, Mi Hwa Park, Jung Soo Kim

Biosci Rep. 2019 Mar 29; 39(3): BSR20181426. Prepublished online 2019 Mar 7. Published online 2019 Mar 19. doi: 10.1042/BSR20181426

PMCID:: PMC6422885

Article PDF–448K

Select item 639012915.

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

Article PDF–856K

Select item 638644816.

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family

Tetsuaki Shoji, Satoshi Konno, Yo Niida, Takahiro Ogi, Masaru Suzuki, Kaoruko Shimizu, Yasuhiro Hida, Kichizo Kaga, Kuniaki Seyama, Tomoaki Naka, Yoshihiro Matsuno, Masaharu Nishimura

PLoS One. 2019; 14(2): e0212370. Published online 2019 Feb 22. doi: 10.1371/journal.pone.0212370