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Items: 1 to 20 of 58

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.
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
5.
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
AbstractArticlePDF–1.2M
6.
Mutation screening of crystallin genes in Chinese families with congenital cataracts
Jianfu Zhuang, Zongfu Cao, Yihua Zhu, Lijuan Liu, Yi Tong, Xiaole Chen, Yaduan Wang, Cailing Lu, Xu Ma, Juhua Yang
Mol Vis. 2019; 25: 427–437. Published online 2019 Aug 9.
PMCID:
PMC6707615
AbstractArticlePDF–2.2M
7.
Structural and functional consequences of age-related isomerization in α-crystallins
Yana A. Lyon, Miranda P. Collier, Dylan L. Riggs, Matteo T. Degiacomi, Justin L. P. Benesch, Ryan R. Julian
J Biol Chem. 2019 May 10; 294(19): 7546–7555. Published online 2019 Feb 25. doi: 10.1074/jbc.RA118.007052
PMCID:
PMC6514633
AbstractArticlePDF–1.8M
8.
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
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.
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
Zixun Song, Nuo Si, Wei Xiao
BMC Med Genet. 2018; 19: 190. Published online 2018 Oct 19. doi: 10.1186/s12881-018-0695-5
PMCID:
PMC6194747
AbstractArticlePDF–1.1M
14.
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
15.
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
16.
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
17.
Deregulated microRNA and mRNA expression profiles in the peripheral blood of patients with Marfan syndrome
Masood Abu-Halima, Mustafa Kahraman, Dominic Henn, Tanja Rädle-Hurst, Andreas Keller, Hashim Abdul-Khaliq, Eckart Meese
J Transl Med. 2018; 16: 60. Published online 2018 Mar 12. doi: 10.1186/s12967-018-1429-3
PMCID:
PMC5848586
AbstractArticlePDF–1.0M
18.
The sHSP22 Heat Shock Protein Requires the ABI1 Protein Phosphatase to Modulate Polar Auxin Transport and Downstream Responses
Yanli Li, Yaqiong Li, Yongchang Liu, Yaorong Wu, Qi Xie
Plant Physiol. 2018 Mar; 176(3): 2406–2425. Published online 2017 Dec 29. doi: 10.1104/pp.17.01206
PMCID:
PMC5841700
AbstractArticlePDF–3.8M
19.
Sertraline induces endoplasmic reticulum stress in hepatic cells
Si Chen, Jiekun Xuan, Letha Couch, Advait Iyer, Yuanfeng Wu, Quan-Zhen Li, Lei Guo
Toxicology. Author manuscript; available in PMC 2017 Dec 19.
Published in final edited form as: Toxicology. 2014 Aug 1; 322: 78–88. Published online 2014 May 24. doi: 10.1016/j.tox.2014.05.007
PMCID:
PMC5736318
AbstractArticlePDF–1.9M
20.
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

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