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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

Abstract Article PDF–1.2M

Select item 70173692.

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

Abstract Article PDF–3.7M

Select item 69659433.

Transcriptome analysis of primary aldosteronism in adrenal glands and controls

Chenlong Chu, Chenhui Zhao, Zhiwei Zhang, Mingwei Wang, Zhaohui Zhang, Anqing Yang, Binbin Ma, Meizhen Gu, Renjie Cui, Zhixiang Xin, Tao Huang, Wenlong Zhou

Int J Clin Exp Pathol. 2017; 10(9): 10009–10018. Published online 2017 Sep 1.

PMCID:: PMC6965943

Abstract Article PDF–1.1M

Select item 68499454.

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

Abstract Article PDF–1.0M

Select item 67338125.

Epigenome-wide exploratory study of monozygotic twins suggests differentially methylated regions to associate with hand grip strength

Mette Soerensen, Weilong Li, Birgit Debrabant, Marianne Nygaard, Jonas Mengel-From, Morten Frost, Kaare Christensen, Lene Christiansen, Qihua Tan

Biogerontology. 2019; 20(5): 627–647. Published online 2019 Jun 28. doi: 10.1007/s10522-019-09818-1

PMCID:: PMC6733812

Abstract Article PDF–348K

Select item 65030136.

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

Abstract Article PDF–1.2M

Select item 63276417.

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

Abstract Article PDF–3.7M

Select item 63032618.

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss

Anna Morgan, Dragana Vuckovic, Navaneethakrishnan Krishnamoorthy, Elisa Rubinato, Umberto Ambrosetti, Pierangela Castorina, Annamaria Franzè, Diego Vozzi, Martina La Bianca, Stefania Cappellani, Mariateresa Di Stazio, Paolo Gasparini, Giorgia Girotto

Eur J Hum Genet. 2019 Jan; 27(1): 70–79. Published online 2018 Sep 3. doi: 10.1038/s41431-018-0229-9

PMCID:: PMC6303261

Abstract Article PDF–1.5M

Select item 63032489.

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

Abstract Article PDF–2.1M

Select item 629289410.

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

Abstract Article PDF–3.4M

Select item 624559711.

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

Abstract Article PDF–746K

Select item 612930812.

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

Abstract Article PDF–615K

Select item 612364713.

SPATC1L maintains the integrity of the sperm head‐tail junction

Jihye Kim, Jun Tae Kwon, Juri Jeong, Jaehwan Kim, Seong Hyeon Hong, Jinyoung Kim, Zee Yong Park, Kyung Hwun Chung, Edward M Eddy, Chunghee Cho

EMBO Rep. 2018 Sep; 19(9): e45991. Published online 2018 Jul 19. doi: 10.15252/embr.201845991

PMCID:: PMC6123647

Abstract Article PDF–5.7M

Select item 598317414.

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

Abstract Article PDF–830K

Select item 594910715.

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

Abstract Article PDF–353K

Select item 586578016.

Identification of TNFSF13, SPATC1L, SLC22A25 and SALL4 as novel susceptibility loci for atrial fibrillation by an exome-wide association study

Yoshiji Yamada, Jun Sakuma, Ichiro Takeuchi, Yoshiki Yasukochi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Masaaki Muramatsu, Motoji Sawabe, Yoshinori Fujiwara, Yu Taniguchi, Shuichi Obuchi, Hisashi Kawai, Shoji Shinkai, Seijiro Mori, Tomio Arai, Masashi Tanaka

Mol Med Rep. 2017 Nov; 16(5): 5823–5832. Published online 2017 Aug 23. doi: 10.3892/mmr.2017.7334

PMCID:: PMC5865780

Abstract Article PDF–824K

Select item 563059217.

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

Abstract Article PDF–1.3M

Select item 552384018.

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

Abstract Article PDF–538K

Select item 549507519.

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