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Items: 1 to 20 of 40

1.
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
AbstractArticlePDF–1.2M
2.
SSEA3 and Sialyl Lewis a Glycan Expression Is Controlled by B3GALT5 LTR through Lamin A-NFYA and SIRT1-STAT3 Signaling in Human ES Cells
Bi-He Cai, Hsueh-Yi Lee, Chi-Kan Chou, Po-Han Wu, Hsiang-Chi Huang, Chia-Chun Chao, Hsiao-Yu Chung, Reiji Kannagi
Cells. 2020 Jan; 9(1): 177. Published online 2020 Jan 10. doi: 10.3390/cells9010177
PMCID:
PMC7017369
AbstractArticlePDF–3.7M
3.
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C. Porter, Sarah A. Jackson, Sioban Keel, Michael Chicka, Anna L. Brown, Chimene Kesserwan, Anupriya Agarwal, Minjie Luo, Zejuan Li, Justyne E. Ross, Panagiotis Baliakas, Daniel Pineda-Alvarez, Courtney D. DiNardo, Alison A. Bertuch, Nikita Mehta, Tom Vulliamy, Ying Wang, Kim E. Nichols, Luca Malcovati, Michael F. Walsh, Lesley H. Rawlings, Shannon K. McWeeney, Jean Soulier, Anna Raimbault, Mark J. Routbort, Liying Zhang, Gabriella Ryan, Nancy A. Speck, Sharon E. Plon, David Wu, Lucy A. Godley
Blood Adv. 2019 Oct 22; 3(20): 2962–2979. Published online 2019 Oct 16. doi: 10.1182/bloodadvances.2019000644
PMCID:
PMC6849945
AbstractArticlePDF–1.0M
4.
Gain-of-function KCNJ6 mutation in a severe hyperkinetic movement disorder phenotype
Gabriella A. Horvath, Yulin Zhao, Maja Tarailo-Graovac, Cyrus Boelman, Harinder Gill, Casper Shyr, James Lee, Ingrid Blydt-Hansen, Britt I. Drögemöller, Jacqueline Moreland, Colin J. Ross, Wyeth W. Wasserman, Andrea Masotti, Paul A. Slesinger, Clara D.M. van Karnebeek
Neuroscience. Author manuscript; available in PMC 2019 Aug 4.
Published in final edited form as: Neuroscience. 2018 Aug 1; 384: 152–164. Published online 2018 May 29. doi: 10.1016/j.neuroscience.2018.05.031
PMCID:
PMC6679957
AbstractArticlePDF–876K
5.
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
AbstractArticlePDF–1.2M
6.
Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome
Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang
Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068
PMCID:
PMC6327641
AbstractArticlePDF–3.7M
7.
A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21
Laïla Allach El Khattabi, Stéphanie Backer, Amélie Pinard, Marie-Noëlle Dieudonné, Vassilis Tsatsaris, Daniel Vaiman, Luisa Dandolo, Evelyne Bloch-Gallego, Hélène Jammes, Sandrine Barbaux
Eur J Hum Genet. 2019 Jan; 27(1): 49–60. Published online 2018 Sep 11. doi: 10.1038/s41431-018-0267-3
PMCID:
PMC6303248
AbstractArticlePDF–2.1M
8.
The short-sequence design of DNA and its involvement in the 3-D structure of the genome
Guillermo Lamolle, Victor Sabbia, Héctor Musto, Giorgio Bernardi
Sci Rep. 2018; 8: 17820. Published online 2018 Dec 13. doi: 10.1038/s41598-018-35864-9
PMCID:
PMC6292894
AbstractArticlePDF–3.4M
9.
SWIFOLD: Smith-Waterman implementation on FPGA with OpenCL for long DNA sequences
Enzo Rucci, Carlos Garcia, Guillermo Botella, Armando De Giusti, Marcelo Naiouf, Manuel Prieto-Matias
BMC Syst Biol. 2018; 12(Suppl 5): 96. Published online 2018 Nov 20. doi: 10.1186/s12918-018-0614-6
PMCID:
PMC6245597
AbstractArticlePDF–746K
10.
Gi/o-coupled muscarinic receptors co-localize with GIRK channel for efficient channel activation
Michihiro Tateyama, Yoshihiro Kubo
PLoS One. 2018; 13(9): e0204447. Published online 2018 Sep 21. doi: 10.1371/journal.pone.0204447
PMCID:
PMC6150519
AbstractArticlePDF–9.5M
11.
DeepSimulator: a deep simulator for Nanopore sequencing
Yu Li, Renmin Han, Chongwei Bi, Mo Li, Sheng Wang, Xin Gao
Bioinformatics. 2018 Sep 1; 34(17): 2899–2908. Published online 2018 Apr 6. doi: 10.1093/bioinformatics/bty223
PMCID:
PMC6129308
AbstractArticlePDF–615K
12.
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1
Erica Sanford, Kelly Watkins, Shareef Nahas, Michael Gottschalk, Nicole G. Coufal, Lauge Farnaes, David Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators
Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002485. doi: 10.1101/mcs.a002485
PMCID:
PMC5983174
AbstractArticlePDF–830K
13.
Evaluation of extraction methods for methylated cell-free fetal DNA from maternal plasma
Ji Hyae Lim, Bom Yi Lee, Jin Woo Kim, You Jung Han, Jin Hoon Chung, Min Hyoung Kim, Dong Wook Kwak, So Yeon Park, Hee Back Choi, Hyun Mee Ryu
J Assist Reprod Genet. 2018 Apr; 35(4): 637–641. Published online 2018 Feb 8. doi: 10.1007/s10815-018-1114-8
PMCID:
PMC5949107
AbstractArticlePDF–353K
14.
CRISPR/Cas9-induced transgene insertion and telomere-associated truncation of a single human chromosome for chromosome engineering in CHO and A9 cells
Narumi Uno, Kei Hiramatsu, Katsuhiro Uno, Shinya Komoto, Yasuhiro Kazuki, Mitsuo Oshimura
Sci Rep. 2017; 7: 12739. Published online 2017 Oct 6. doi: 10.1038/s41598-017-10418-7
PMCID:
PMC5630592
AbstractArticlePDF–1.3M
15.
Implication of the APP Gene in Intellectual Abilities
Craig Myrum, Oleksii Nikolaienko, Clive R. Bramham, Jan Haavik, Tetyana Zayats
J Alzheimers Dis. 2017; 59(2): 723–735. Prepublished online 2017 Jun 27. Published online 2017 Jul 17. doi: 10.3233/JAD-170049
PMCID:
PMC5523840
AbstractArticlePDF–538K
16.
KCTD12 modulation of GABA(B) receptor function
Melody Li, Carol J. Milligan, Haiyan Wang, Andrew Walker, Leonid Churilov, Andrew J. Lawrence, Christopher A. Reid, Seth C. Hopkins, Steven Petrou
Pharmacol Res Perspect. 2017 Aug; 5(4): e00319. Published online 2017 Jun 7. doi: 10.1002/prp2.319
PMCID:
PMC5508304
AbstractArticlePDF–376K
17.
Genome-wide TOP2A DNA cleavage is biased toward translocated and highly transcribed loci
Xiang Yu, James W. Davenport, Karen A. Urtishak, Marie L. Carillo, Sager J. Gosai, Christos P. Kolaris, Jo Ann W. Byl, Eric F. Rappaport, Neil Osheroff, Brian D. Gregory, Carolyn A. Felix
Genome Res. 2017 Jul; 27(7): 1238–1249. doi: 10.1101/gr.211615.116
PMCID:
PMC5495075
AbstractArticlePDF–709K
18.
Selective intra-dinucleotide interactions and periodicities of bases separated by K sites: a new vision and tool for phylogeny analyses
Carlos Y. Valenzuela
Biol Res. 2017; 50: 3. Published online 2017 Feb 13. doi: 10.1186/s40659-017-0112-0
PMCID:
PMC5307875
AbstractArticlePDF–2.3M
19.
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype
Maria Chiara Pelleri, Elena Cicchini, Chiara Locatelli, Lorenza Vitale, Maria Caracausi, Allison Piovesan, Alessandro Rocca, Giulia Poletti, Marco Seri, Pierluigi Strippoli, Guido Cocchi
Hum Mol Genet. 2016 Jun 15; 25(12): 2525–2538. Published online 2016 Apr 22. doi: 10.1093/hmg/ddw116
PMCID:
PMC5181629
AbstractArticlePDF–692K
20.
Orexin signaling regulates both the hippocampal clock and the circadian oscillation of Alzheimer’s disease-risk genes
Zhixiong Ma, Weiliang Jiang, Eric Erquan Zhang
Sci Rep. 2016; 6: 36035. Published online 2016 Oct 31. doi: 10.1038/srep36035
PMCID:
PMC5086843
AbstractArticlePDF–1.7M

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