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Items: 1 to 20 of 76

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.
Recapitulating bone development through engineered mesenchymal condensations and mechanical cues for tissue regeneration
Anna M. McDermott, Samuel Herberg, Devon E. Mason, Joseph M. Collins, Hope B. Pearson, James H. Dawahare, Rui Tang, Amit N. Patwa, Mark W. Grinstaff, Daniel J. Kelly, Eben Alsberg, Joel D. Boerckel
Sci Transl Med. Author manuscript; available in PMC 2020 Jan 14.
Published in final edited form as: Sci Transl Med. 2019 Jun 5; 11(495): eaav7756. doi: 10.1126/scitranslmed.aav7756
PMCID:
PMC6959418
AbstractArticlePDF–3.4M
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.
Sequencing Primate Genomes: What Have We Learned?
Tomas Marques-Bonet, Oliver A. Ryder, Evan E. Eichler
Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2019 Jul 29.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2009; 10: 355–386. doi: 10.1146/annurev.genom.9.081307.164420
PMCID:
PMC6662594
AbstractArticlePDF–2.0M
6.
COL6A1 promotes metastasis and predicts poor prognosis in patients with pancreatic cancer
Kwabena Gyabaah Owusu-Ansah, Guangyuan Song, Ronggao Chen, Muhammad Ibrahim Alhadi Edoo, Jun Li, Bingjie Chen, Jian Wu, Lin Zhou, Haiyang Xie, Donghai Jiang, Shusen Zheng
Int J Oncol. 2019 Aug; 55(2): 391–404. Published online 2019 Jun 14. doi: 10.3892/ijo.2019.4825
PMCID:
PMC6615918
AbstractArticlePDF–2.1M
7.
Identify CRNDE and LINC00152 as the key lncRNAs in age-related degeneration of articular cartilage through comprehensive and integrative analysis
Pengfei Hu, Fangfang Sun, Jisheng Ran, Lidong Wu
PeerJ. 2019; 7: e7024. Published online 2019 May 28. doi: 10.7717/peerj.7024
PMCID:
PMC6544125
AbstractArticlePDF–2.0M
8.
Molecular Signature of Prospero Homeobox 1 (PROX1) in Follicular Thyroid Carcinoma Cells
Magdalena Rudzińska, Małgorzata Grzanka, Anna Stachurska, Michał Mikula, Katarzyna Paczkowska, Tomasz Stępień, Agnieszka Paziewska, Jerzy Ostrowski, Barbara Czarnocka
Int J Mol Sci. 2019 May; 20(9): 2212. Published online 2019 May 5. doi: 10.3390/ijms20092212
PMCID:
PMC6539481
AbstractArticlePDF–7.3M
9.
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
10.
Differential Phenotypes in Perivascular Adipose Tissue Surrounding the Internal Thoracic Artery and Diseased Coronary Artery
Ryosuke Numaguchi, Masato Furuhashi, Megumi Matsumoto, Hiroshi Sato, Yosuke Yanase, Yosuke Kuroda, Ryo Harada, Toshiro Ito, Yukimura Higashiura, Masayuki Koyama, Marenao Tanaka, Norihito Moniwa, Masanori Nakamura, Hirosato Doi, Tetsuji Miura, Nobuyoshi Kawaharada
J Am Heart Assoc. 2019 Jan 22; 8(2): e011147. Published online 2019 Jan 13. doi: 10.1161/JAHA.118.011147
PMCID:
PMC6497339
AbstractArticlePDF–1.4M
11.
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
Véronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S. Chen, Katherine Sizov, Matthew Nalls, Haiyan Zhou, Sara Aguti, Beryl B. Cummings, Monkol Lek, Taru Tukiainen, Jamie L. Marshall, Oded Regev, Dina Marek-Yagel, Anna Sarkozy, Russell J. Butterfield, Cristina Jou, Cecilia Jimenez-Mallebrera, Yan Li, Corine Gartioux, Kamel Mamchaoui, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Eric Hanssen, the COL6A1 Intron 11 Study Group, Steve D. Wilton, Shireen R. Lamandé, Daniel G. MacArthur, Raimund Wagener, Francesco Muntoni, Carsten G. Bönnemann
JCI Insight. 2019 Mar 21; 4(6): e124403. Published online 2019 Mar 21. doi: 10.1172/jci.insight.124403
PMCID:
PMC6483063
AbstractArticlePDF–1.4M
12.
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
13.
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
14.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan
Madhurima Saha, Hemakumar M. Reddy, Mustafa A. Salih, Elicia Estrella, Michael D. Jones, Satomi Mitsuhashi, Kyung-Ah Cho, Silveli Suzuki-Hatano, Skylar A. Rizzo, Muddathir H. Hamad, Maowia M. Mukhtar, Ahlam A. Hamed, Maha A. Elseed, Monkol Lek, Elise Valkanas, Daniel G. MacArthur, Louis M. Kunkel, Christina A. Pacak, Isabelle Draper, Peter B. Kang
Physiol Genomics. 2018 Nov 1; 50(11): 929–939. Published online 2018 Aug 31. doi: 10.1152/physiolgenomics.00036.2018
PMCID:
PMC6293114
AbstractArticle
15.
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
16.
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
17.
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
18.
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
19.
Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients
Peng Wang, Xiao Liu, Bin Zhu, Yunlong Ma, Lei Yong, Ze Teng, Chen Liang, Guanping He, Xiaoguang Liu
J Orthop Surg Res. 2018; 13: 109. Published online 2018 May 15. doi: 10.1186/s13018-018-0817-y
PMCID:
PMC5952594
AbstractArticlePDF–407K
20.
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

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