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Select item 70660401.

Inferences of Individual Drug Response-Related Long Non-coding RNAs Based on Integrating Multi-omics Data in Breast Cancer

Hao Cui, Hanqing Kong, Fuhui Peng, Chunjing Wang, Dandan Zhang, Jiawei Tian, Lei Zhang

Mol Ther Nucleic Acids. 2020 Jun 5; 20: 128–139. Published online 2020 Feb 15. doi: 10.1016/j.omtn.2020.01.038

PMCID:: PMC7066040

Article PDF–3.5M

Select item 70570902.

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 70570873.

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani

Mol Genet Genomic Med. 2020 Mar; 8(3): e1137. Published online 2020 Jan 20. doi: 10.1002/mgg3.1137

PMCID:: PMC7057087

Article PDF–3.4M

Select item 70338514.

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Jay Ramchand, Mathew Wallis, Ivan Macciocca, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, Siobhan Lockwood, Robert Weintraub, Tina Thompson, Alison Trainer, Dominica Zentner, Jitendra Vohra, Michael Chetrit, David L. Hare, Paul James

J Am Heart Assoc. 2020 Jan 21; 9(2): e013346. Published online 2020 Jan 14. doi: 10.1161/JAHA.119.013346

PMCID:: PMC7033851

Article PDF–523K

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

Article PDF–1.2M

Select item 70168906.

HIF1α/TET1 Pathway Mediates Hypoxia-Induced Adipocytokine Promoter Hypomethylation in Human Adipocytes

Mohamed M. Ali, Shane A. Phillips, Abeer M. Mahmoud

Cells. 2020 Jan; 9(1): 134. Published online 2020 Jan 6. doi: 10.3390/cells9010134

PMCID:: PMC7016890

Article PDF–2.2M

Select item 70107677.

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy

Xin-Lin Zhang, Jun Xie, Rong-Fang Lan, Li-Na Kang, Lian Wang, Wei Xu, Biao Xu

Sci Rep. 2020; 10: 2226. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58984-7

PMCID:: PMC7010767

Article PDF–1.5M

Select item 69983588.

Epigenetic induction of tumor stemness via the lipopolysaccharide-TET3-HOXB2 signaling axis in esophageal squamous cell carcinoma

Fengkai Xu, Zhonghe Liu, Ronghua Liu, Chunlai Lu, Lin Wang, Wei Mao, Qiaoliang Zhu, Huankai Shou, Kunpeng Zhang, Yin Li, Yiwei Chu, Jie Gu, Di Ge

Cell Commun Signal. 2020; 18: 17. Published online 2020 Feb 3. doi: 10.1186/s12964-020-0510-8

PMCID:: PMC6998358

Article PDF–7.8M

Select item 69957339.

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 697718710.

SMAD6, positively regulated by the DNM3OS-miR-134-5p axis, confers promoting effects to cell proliferation, migration and EMT process in retinoblastoma

Hui Wang, Xiang Ji

Cancer Cell Int. 2020; 20: 23. Published online 2020 Jan 22. doi: 10.1186/s12935-020-1103-8

PMCID:: PMC6977187

Article PDF–4.4M

Select item 692862711.

Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining

Justyna Totoń-Żurańska, Przemysław Kapusta, Magda Rybak-Krzyszkowska, Katarzyna Lorenc, Julita Machlowska, Anna Skalniak, Erita Filipek, Dorota Pawlik, Paweł P. Wołkow

Int J Mol Sci. 2019 Dec; 20(23): 6006. Published online 2019 Nov 28. doi: 10.3390/ijms20236006

PMCID:: PMC6928627

Article PDF–1.9M

Select item 689552212.

A pilot study comparing the genetic molecular biology of gestational and non-gestational choriocarcinoma

Cordelle Lazare, Wenhua Zhi, Jun Dai, Canhui Cao, Rajiv Rai Sookha, Ling Wang, Yifan Meng, Peipei Gao, Ping Wu, Juncheng Wei, Junbo Hu, Peng Wu

Am J Transl Res. 2019; 11(11): 7049–7062. Published online 2019 Nov 15.

PMCID:: PMC6895522

Article PDF–1.5M

Select item 685909613.

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy

Jih-Kai Yeh, Wei-Hsiu Liu, Chao-Yung Wang, Jang-Jih Lu, Chien-Hsiun Chen, Yah-Huei Wu-Chou, Pi-Yueh Chang, Shih-Cheng Chang, Chia-Hung Yang, Ming-Lung Tsai, Ming-Yun Ho, I-Chang Hsieh, Ming-Shien Wen

Acta Cardiol Sin. 2019 Nov; 35(6): 571–584. doi: 10.6515/ACS.201911_35(6).20190402A

PMCID:: PMC6859096

Article PDF–1.5M

Select item 683792014.

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders

Christoph Marschall, Alexander Moscu-Gregor, Hanns-Georg Klein

Cardiovasc Diagn Ther. 2019 Oct; 9(Suppl 2): S292–S298. doi: 10.21037/cdt.2019.06.06

PMCID:: PMC6837920

Article PDF–690K

Select item 682585215.

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A. Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E. Hershberger, John T. Kissel

Mol Genet Genomic Med. 2019 Nov; 7(11): e924. Published online 2019 Sep 5. doi: 10.1002/mgg3.924

PMCID:: PMC6825852

Article PDF–2.3M

Select item 681941116.

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang

BMC Med Genet. 2019; 20: 166. Published online 2019 Oct 29. doi: 10.1186/s12881-019-0895-7

Correction in:: BMC Med Genet. 2019; 20: 195.

PMCID:: PMC6819411

Article PDF–2.9M

Select item 681684917.

Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy

Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu

J Clin Lab Anal. 2018 Jun; 32(5): e22375. Published online 2018 Jan 4. doi: 10.1002/jcla.22375

PMCID:: PMC6816849

Article PDF–523K

Select item 678543818.

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients

Jihye Park, Hyun Mi Oh, Hye Jung Park, Ah‐Ra Cho, Dong‐Woo Lee, Ja‐Hyun Jang, Dae‐Hyun Jang

Mol Genet Genomic Med. 2019 Oct; 7(10): e00947. Published online 2019 Sep 1. doi: 10.1002/mgg3.947

PMCID:: PMC6785438

Article PDF–923K

Select item 677913319.

FUNCTIONAL POLYMORPHISMS IN NRF2: IMPLICATIONS FOR HUMAN DISEASE

Hye-Youn Cho, Jacqui Marzec, Steven R. Kleeberger

Free Radic Biol Med. Author manuscript; available in PMC 2019 Oct 7.

Published in final edited form as: Free Radic Biol Med. 2015 Nov; 88(Pt B): 362–372. Published online 2015 Jun 25. doi: 10.1016/j.freeradbiomed.2015.06.012