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Select item 70447471.

Genotyping and Copy Number Analysis of Immunoglobin Heavy Chain Variable Genes Using Long Reads

Michael Ford, Ehsan Haghshenas, Corey T. Watson, S. Cenk Sahinalp

iScience. 2020 Mar 27; 23(3): 100883. Published online 2020 Feb 4. doi: 10.1016/j.isci.2020.100883

Correction in:: iScience. 2020 Sep 25; 23(9): 101508.

PMCID:: PMC7044747

Abstract Article PDF–2.0M

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 69784023.

LncRNA DLX6‐AS1 increases the expression of HIF‐1α and promotes the malignant phenotypes of nasopharyngeal carcinoma cells via targeting MiR‐199a‐5p

Bin Yang, Lin Jia, Hui Ren, Caibao Jin, Qingrong Ren, Haiyuan Zhang, Desheng Hu, Hao Zhang, Liu Hu, Tao Xie

Mol Genet Genomic Med. 2020 Jan; 8(1): e1017. Published online 2019 Nov 29. doi: 10.1002/mgg3.1017

PMCID:: PMC6978402

Abstract Article PDF–1.2M

Select item 69782574.

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly Jones, Cindy D. Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto

Mol Genet Genomic Med. 2020 Jan; 8(1): e1036. Published online 2019 Nov 7. doi: 10.1002/mgg3.1036

PMCID:: PMC6978257

Abstract Article PDF–826K

Select item 69592125.

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels

Adela Chirita-Emandi, Nicoleta Andreescu, Cristian G. Zimbru, Paul Tutac, Smaranda Arghirescu, Margit Serban, Maria Puiu

Sci Rep. 2020; 10: 223. Published online 2020 Jan 14. doi: 10.1038/s41598-019-57080-9

PMCID:: PMC6959212

Abstract Article PDF–1.0M

Select item 69368226.

Lower S-adenosylmethionine levels and DNA hypomethylation of placental growth factor (PlGF) in placental tissue of early-onset preeclampsia-complicated pregnancies

Sandra G. Heil, Emilie M. Herzog, Pieter H. Griffioen, Bertrand van Zelst, Sten P. Willemsen, Yolanda B. de Rijke, Regine P. M. Steegers-Theunissen, Eric A. P. Steegers

PLoS One. 2019; 14(12): e0226969. Published online 2019 Dec 30. doi: 10.1371/journal.pone.0226969

PMCID:: PMC6936822

Abstract Article PDF–541K

Select item 69119977.

Lnc-TCL6 is a potential biomarker for early diagnosis and grade in liver-cirrhosis patients

Lei-Jia Li, Xiao-Ying Wu, Si-Wei Tan, Zi-Jun Xie, Xue-Mei Pan, Shun-Wen Pan, Wu-Ri-Na Bai, Hai-Jiao Li, Hui-Ling Liu, Jie Jiang, Bin Wu

Gastroenterol Rep (Oxf) 2019 Dec; 7(6): 434–443. Published online 2019 Oct 11. doi: 10.1093/gastro/goz050

PMCID:: PMC6911997

Abstract Article PDF–1.0M

Select item 68242588.

Biallelic loss of GNAS in a patient with pediatric medulloblastoma

Mari J. Tokita, Shareef Nahas, Benjamin Briggs, Denise M. Malicki, Jill P. Mesirov, Iris Anne C. Reyes, Lauge Farnaes, Michael L. Levy, Stephen F. Kingsmore, David Dimmock, John R. Crawford, Robert J. Wechsler-Reya

Cold Spring Harb Mol Case Stud. 2019 Oct; 5(5): a004572. doi: 10.1101/mcs.a004572

PMCID:: PMC6824258

Abstract Article PDF–2.5M

Select item 68034989.

MicroRNA-300: A Transcellular Mediator in Exosome Regulates Melanoma Progression

Long Chen, Vega Windy Karisma, Huawen Liu, Li Zhong

Front Oncol. 2019; 9: 1005. Published online 2019 Oct 15. doi: 10.3389/fonc.2019.01005

PMCID:: PMC6803498

Abstract Article PDF–3.0M

Select item 678140010.

CyclinD1 inhibits dicer and crucial miRNA expression by chromatin modification to promote the progression of intrahepatic cholangiocarcinoma

Yongqiang Qi, Da Wang, Wenhua Huang, Bing Wang, Di Huang, Fei Xiong, Xiaoping Chen, Yongjun Chen

J Exp Clin Cancer Res. 2019; 38: 413. Published online 2019 Oct 7. doi: 10.1186/s13046-019-1415-5

PMCID:: PMC6781400

Abstract Article PDF–24M

Select item 669549011.

Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis

Jeffrey Vedanayagam, Walid K. Chatila, Bülent Arman Aksoy, Sonali Majumdar, Anders Jacobsen Skanderup, Emek Demir, Nikolaus Schultz, Chris Sander, Eric C. Lai

Nat Commun. 2019; 10: 3682. Published online 2019 Aug 15. doi: 10.1038/s41467-019-11610-1

PMCID:: PMC6695490

Abstract Article PDF–1.4M

Select item 668766512.

Functional characterization of a SNP (F51S) found in human alpha 1‐antitrypsin

Hong‐Nhung Trinh, Sei‐Heon Jang, ChangWoo Lee

Mol Genet Genomic Med. 2019 Aug; 7(8): e819. Published online 2019 Jun 28. doi: 10.1002/mgg3.819

PMCID:: PMC6687665

Abstract Article PDF–924K

Select item 667512813.

BCDIN3D regulates tRNA^His 3’ fragment processing

Calder W. Reinsborough, Hélène Ipas, Nathan S. Abell, Ryan M. Nottingham, Jun Yao, Sravan K. Devanathan, Samantha B. Shelton, Alan M. Lambowitz, Blerta Xhemalçe

PLoS Genet. 2019 Jul; 15(7): e1008273. Published online 2019 Jul 22. doi: 10.1371/journal.pgen.1008273

PMCID:: PMC6675128

Abstract Article PDF–2.8M

Select item 653219414.

Association of NTCP polymorphisms with clinical outcome of hepatitis B infection in Thai individuals

Natthaya Chuaypen, Nongnaput Tuyapala, Nutcha Pinjaroen, Sunchai Payungporn, Pisit Tangkijvanich

BMC Med Genet. 2019; 20: 87. Published online 2019 May 22. doi: 10.1186/s12881-019-0823-x

PMCID:: PMC6532194

Abstract Article PDF–625K

Select item 646849315.

Tyrosine kinase c-Abl couples RNA polymerase II transcription to DNA double-strand breaks

Kaspar Burger, Margarita Schlackow, Monika Gullerova

Nucleic Acids Res. 2019 Apr 23; 47(7): 3467–3484. Published online 2019 Jan 22. doi: 10.1093/nar/gkz024

PMCID:: PMC6468493

Abstract Article PDF–5.0M

Select item 635300516.

Alpha-1 Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing

Craig P. Hersh, Edward J. Campbell, Lauren R. Scott, Benjamin A. Raby

Am J Respir Crit Care Med. 2019 Jan 15; 199(2): 246–248. Published online 2019 Jan 15. doi: 10.1164/rccm.201809-1679LE

PMCID:: PMC6353005

Article PDF–455K

Select item 627609017.

V-ATPases and osteoclasts: ambiguous future of V-ATPases inhibitors in osteoporosis

Xiaohong Duan, Shaoqing Yang, Lei Zhang, Tielin Yang

Theranostics. 2018; 8(19): 5379–5399. Published online 2018 Oct 26. doi: 10.7150/thno.28391

PMCID:: PMC6276090

Abstract Article PDF–1.2M

Select item 617236918.

Dicer affects cisplatin-mediated apoptosis in epithelial ovarian cancer cells

Xi Wang, Hui Chen, Yiping Wen, Xiaoxin Yang, Qing Han, Ping Jiang, Zaiju Huang, Jing Cai, Zehua Wang

Mol Med Rep. 2018 Nov; 18(5): 4381–4387. Published online 2018 Sep 4. doi: 10.3892/mmr.2018.9452

PMCID:: PMC6172369

Abstract Article PDF–1.3M

Select item 608183219.

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

Judith Penkert, Gunnar Schmidt, Winfried Hofmann, Stephanie Schubert, Maximilian Schieck, Bernd Auber, Tim Ripperger, Karl Hackmann, Marc Sturm, Holger Prokisch, Ursula Hille-Betz, Dorothea Mark, Thomas Illig, Brigitte Schlegelberger, Doris Steinemann

Breast Cancer Res. 2018; 20: 87. Published online 2018 Aug 7. doi: 10.1186/s13058-018-1011-1