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Items: 1 to 20 of 39

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.
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
AbstractArticlePDF–1.1M
4.
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
AbstractArticlePDF–1.1M
5.
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
6.
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
AbstractArticlePDF–348K
7.
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
8.
A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh
Brandon L. Pierce, Lin Tong, Samantha Dean, Maria Argos, Farzana Jasmine, Muhammad Rakibuz-Zaman, Golam Sarwar, Md. Tariqul Islam, Hasan Shahriar, Tariqul Islam, Mahfuzar Rahman, Md. Yunus, Vincent J. Lynch, Devin Oglesbee, Joseph H. Graziano, Muhammad G. Kibriya, Mary V. Gamble, Habibul Ahsan
PLoS Genet. 2019 Mar; 15(3): e1007984. Published online 2019 Mar 20. doi: 10.1371/journal.pgen.1007984
Correction in:
PLoS Genet. 2019 May; 15(5): e1008172.
PMCID:
PMC6443193
AbstractArticlePDF–1.7M
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger
Orphanet J Rare Dis. 2018; 13: 23. Published online 2018 Jan 26. doi: 10.1186/s13023-018-0763-0
PMCID:
PMC5787287
AbstractArticlePDF–664K
17.
Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
Ramanath Majumdar, Andrew Yori, Peggy W. Rush, Kimiyo Raymond, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Piero Rinaldo, Gerald L. Feldman, Devin Oglesbee
Mol Genet Genomic Med. 2017 Nov; 5(6): 795–799. Published online 2017 Sep 11. doi: 10.1002/mgg3.333
PMCID:
PMC5702579
AbstractArticlePDF–269K
18.
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
19.
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
20.
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

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