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Select item 70271951.

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 69620362.

Microglia response following acute demyelination is heterogeneous and limits infiltrating macrophage dispersion

Jason R. Plemel, Jo Anne Stratton, Nathan J. Michaels, Khalil S. Rawji, Eric Zhang, Sarthak Sinha, Charbel S. Baaklini, Yifei Dong, Madelene Ho, Kevin Thorburn, Timothy N. Friedman, Sana Jawad, Claudia Silva, Andrew V. Caprariello, Vahid Hoghooghi, Julie Yue, Arzina Jaffer, Kelly Lee, Bradley J. Kerr, Raj Midha, Peter K. Stys, Jeff Biernaskie, V. Wee Yong

Sci Adv. 2020 Jan; 6(3): eaay6324. Published online 2020 Jan 15. doi: 10.1126/sciadv.aay6324

PMCID:: PMC6962036

Article PDF–10M

Select item 69356063.

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

Simranpreet Kaur, Nicole J. Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M. White, Carolyn Ellaway, John Christodoulou

Clin Case Rep. 2019 Dec; 7(12): 2476–2482. Published online 2019 Nov 12. doi: 10.1002/ccr3.2511

PMCID:: PMC6935606

Article PDF–959K

Select item 68836274.

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

Article PDF–807K

Select item 67773555.

Knockdown of HE4 suppresses aggressive cell growth and malignant progression of ovarian cancer by inhibiting the JAK/STAT3 pathway

Aihong Wang, Canhui Jin, Xiaoyu Tian, Ying Wang, Hongyu Li

Biol Open. 2019 Sep 15; 8(9): bio043570. Published online 2019 Sep 15. doi: 10.1242/bio.043570

PMCID:: PMC6777355

Article PDF–6.6M

Select item 67742676.

Mechanisms of IFNalpha-1a-Induced Apoptosis in a Laryngeal Cancer Cell Line

Xiao-Lei Xin, Ran Zhang, Xiao-Mei Yuan, Li Liu

Med Sci Monit. 2019; 25: 7100–7114. Published online 2019 Sep 22. doi: 10.12659/MSM.917097

PMCID:: PMC6774267

Article PDF–2.4M

Select item 67596567.

Evaluation of the Possibility to Detect Circulating Tumor DNA From Pituitary Adenoma

Kaspars Megnis, Raitis Peculis, Vita Rovite, Pola Laksa, Helvijs Niedra, Inga Balcere, Olivija Caune, Austra Breiksa, Jurijs Nazarovs, Janis Stukens, Ilze Konrade, Valdis Pirags, Janis Klovins

Front Endocrinol (Lausanne) 2019; 10: 615. Published online 2019 Sep 18. doi: 10.3389/fendo.2019.00615

PMCID:: PMC6759656

Article PDF–354K

Select item 67426468.

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 66839499.

Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease

Eva Bagyinszky, YoungSoon Yang, Vo Van Giau, Young Chul Youn, Seong Soo A An, SangYun Kim

Clin Interv Aging. 2019; 14: 1387–1397. Published online 2019 Aug 2. doi: 10.2147/CIA.S210909

PMCID:: PMC6683949

Article PDF–4.2M

Select item 667828310.

Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review

Livia Bernardi, Amalia C. Bruni

Int J Mol Sci. 2019 Jul; 20(14): 3606. Published online 2019 Jul 23. doi: 10.3390/ijms20143606

PMCID:: PMC6678283

Article PDF–589K

Select item 666070011.

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

Article PDF–980K

Select item 658628912.

Elevated levels of eEF1A2 protein expression in triple negative breast cancer relate with poor prognosis

Fabiola Giudici, Elisabetta Petracci, Oriana Nanni, Cristina Bottin, Maurizio Pinamonti, Fabrizio Zanconati, Bruna Scaggiante

PLoS One. 2019; 14(6): e0218030. Published online 2019 Jun 20. doi: 10.1371/journal.pone.0218030

Correction in:: PLoS One. 2019; 14(12): e0227068.

PMCID:: PMC6586289

Article PDF–2.6M

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 649858514.

Parkinson’s disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes

Jee Hoon Lee, Ji-hye Han, Hyunmi Kim, Sang Myun Park, Eun-hye Joe, Ilo Jou

Acta Neuropathol Commun. 2019; 7: 68. Published online 2019 May 2. doi: 10.1186/s40478-019-0716-4

PMCID:: PMC6498585

Article PDF–6.9M

Select item 647649815.

Arsenite malignantly transforms human prostate epithelial cells in vitro by gene amplification of mutated KRAS

B. Alex Merrick, Dhiral P. Phadke, Meredith A. Bostrom, Ruchir R. Shah, Garron M. Wright, Xinguo Wang, Oksana Gordon, Katherine E. Pelch, Scott S. Auerbach, Richard S. Paules, Michael J. DeVito, Michael P. Waalkes, Erik J. Tokar

PLoS One. 2019; 14(4): e0215504. Published online 2019 Apr 22. doi: 10.1371/journal.pone.0215504

PMCID:: PMC6476498

Article PDF–2.5M

Select item 641836316.

Interaction of germline variants in a family with a history of early‐onset clear cell renal cell carcinoma

Emmanuelle Nicolas, Elena V. Demidova, Waleed Iqbal, Ilya G. Serebriiskii, Ramilia Vlasenkova, Pooja Ghatalia, Yan Zhou, Kim Rainey, Andrea F. Forman, Roland L. Dunbrack, Jr, Erica A. Golemis, Michael J. Hall, Mary B. Daly, Sanjeevani Arora

Mol Genet Genomic Med. 2019 Mar; 7(3): e556. Published online 2019 Jan 24. doi: 10.1002/mgg3.556