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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

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

Article PDF–3.7M

Select item 68828953.

Statin-specific inhibition of Rab-GTPase regulates cPKC-mediated IKs internalization

Elsa Ronzier, Xiaorong Xu Parks, Haani Qudsi, Coeli M. Lopes

Sci Rep. 2019; 9: 17747. Published online 2019 Nov 28. doi: 10.1038/s41598-019-53700-6

PMCID:: PMC6882895

Article PDF–1.6M

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

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Select item 65030135.

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

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Select item 63283216.

Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

Rabia Faridi, Risa Tona, Alessandra Brofferio, Michael Hoa, Rafal Olszewski, Isabelle Schrauwen, Muhammad Z.K. Assir, Akhtar A. Bandesha, Asma A. Khan, Atteeq U. Rehman, Carmen Brewer, Wasim Ahmed, Suzanne M. Leal, Sheikh Riazuddin, Steven E. Boyden, Thomas B. Friedman

Hum Mutat. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Hum Mutat. 2019 Feb; 40(2): 162–176. Published online 2018 Dec 12. doi: 10.1002/humu.23689

PMCID:: PMC6328321

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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

Article PDF–3.7M

Select item 63032488.

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

Article PDF–2.1M

Select item 62928949.

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

Article PDF–3.4M

Select item 624559710.

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

Article PDF–746K

Select item 612930811.

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

Article PDF–615K

Select item 608094512.

KCNE1 tunes the sensitivity of K_V7.1 to polyunsaturated fatty acids by moving turret residues close to the binding site

Johan E Larsson, H Peter Larsson, Sara I Liin

eLife. 2018; 7: e37257. Published online 2018 Jul 17. doi: 10.7554/eLife.37257

PMCID:: PMC6080945

Article PDF–1.6M

Select item 601874313.

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

Jesus Mates, Irene Mademont-Soler, Bernat del Olmo, Carles Ferrer-Costa, Monica Coll, Alexandra Pérez-Serra, Ferran Picó, Catarina Allegue, Anna Fernandez-Falgueras, Patricia Álvarez, Raquel Yotti, Maria Angeles Espinosa, Georgia Sarquella-Brugada, Sergi Cesar, Ester Carro, Josep Brugada, Elena Arbelo, Pablo Garcia-Pavia, Mar Borregan, Eduardo Tizzano, Amador López-Granados, Francisco Mazuelos, Aranzazu Díaz de Bustamante, Maria Teresa Darnaude, José Ignacio González-Hevia, Felícitas Díaz-Flores, Francisco Trujillo, Anna Iglesias, Francisco Fernandez-Aviles, Oscar Campuzano, Ramon Brugada

Eur J Hum Genet. 2018 Jul; 26(7): 1014–1025. Published online 2018 Mar 6. doi: 10.1038/s41431-018-0119-1

PMCID:: PMC6018743

Article PDF–1.3M

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

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

Article PDF–353K

Select item 584204016.

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations

Hui Huang, Georg Kuenze, Jarrod A. Smith, Keenan C. Taylor, Amanda M. Duran, Arina Hadziselimovic, Jens Meiler, Carlos G. Vanoye, Alfred L. George, Jr, Charles R. Sanders

Sci Adv. 2018 Mar; 4(3): eaar2631. Published online 2018 Mar 7. doi: 10.1126/sciadv.aar2631

PMCID:: PMC5842040

Article PDF–2.5M

Select item 581444717.

A hERG mutation E1039X produced a synergistic lesion on I_Ks together with KCNQ1-R174C mutation in a LQTS family with three compound mutations

Jie Wu, Yuka Mizusawa, Seiko Ohno, Wei-Guang Ding, Takashi Higaki, Qi Wang, Hirohiko Kohjitani, Takeru Makiyama, Hideki Itoh, Futoshi Toyoda, Andrew F. James, Jules C. Hancox, Hiroshi Matsuura, Minoru Horie

Sci Rep. 2018; 8: 3129. Published online 2018 Feb 15. doi: 10.1038/s41598-018-21442-6

PMCID:: PMC5814447

Article PDF–3.1M

Select item 563059218.

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

Article PDF–1.3M

Select item 552384019.

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

Article PDF–538K

Select item 549507520.

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

Article PDF–709K

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