Full text in PMC (nucleotide) for Gene (Select 8566) - PMC

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

Article PDF–1.0M

Select item 67721064.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Viorica Chelban, Matthew P. Wilson, Jodi Warman Chardon, Jana Vandrovcova, M. Natalia Zanetti, Eleni Zamba‐Papanicolaou, Stephanie Efthymiou, Simon Pope, Maria R. Conte, Giancarlo Abis, Yo‐Tsen Liu, Eloise Tribollet, Nourelhoda A. Haridy, Juan A. Botía, Mina Ryten, Paschalis Nicolaou, Anna Minaidou, Kyproula Christodoulou, Kristin D. Kernohan, Alison Eaton, Matthew Osmond, Yoko Ito, Pierre Bourque, James E. C. Jepson, Oscar Bello, Fion Bremner, Carla Cordivari, Mary M. Reilly, Martha Foiani, Amanda Heslegrave, Henrik Zetterberg, Simon J. R. Heales, Nicholas W. Wood, James E. Rothman, Kym M. Boycott, Philippa B. Mills, Peter T. Clayton, Henry Houlden, for the Care4Rare Canada Consortium and the SYNaPS Study Group

Ann Neurol. 2019 Aug; 86(2): 225–240. Published online 2019 Jul 1. doi: 10.1002/ana.25524

PMCID:: PMC6772106

Article PDF–5.2M

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

Article PDF–1.2M

Select item 64025266.

Age and poverty status alter the coding and noncoding transcriptome

Nicole Noren Hooten, Michele K. Evans

Aging (Albany NY) 2019 Feb 28; 11(4): 1189–1203. Published online 2019 Feb 17. doi: 10.18632/aging.101823

PMCID:: PMC6402526

Article PDF–3.2M

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

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 598317412.

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 594910713.

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 566942314.

Using long ssDNA polynucleotides to amplify STRs loci in degraded DNA samples

Martín E. Mautner, Agustín Pérez Santángelo, Rodrigo M. Corti Bielsa, Andrea Sala, Santiago Ginart, Daniel Corach

PLoS One. 2017; 12(11): e0187190. Published online 2017 Nov 3. doi: 10.1371/journal.pone.0187190

PMCID:: PMC5669423

Article PDF–5.0M

Select item 563059215.

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 552384016.

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 549507517.

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

Select item 531928918.

Optimization of short tandem repeats (STR) typing method and allele frequency of 8 STR markers in referring to forensic medicine of Semnan Province

M Eskandarion, M Najafi, M Akbari Eidgahi, A Alipour Tabrizi, T Golmohamadi

J Med Life. 2015; 8(Spec Iss 4): 180–185.

PMCID:: PMC5319289

Article PDF–242K

Select item 530787519.

Selective intra-dinucleotide interactions and periodicities of bases separated by K sites: a new vision and tool for phylogeny analyses

Carlos Y. Valenzuela

Biol Res. 2017; 50: 3. Published online 2017 Feb 13. doi: 10.1186/s40659-017-0112-0

PMCID:: PMC5307875

Article PDF–2.3M

Select item 518162920.

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

Maria Chiara Pelleri, Elena Cicchini, Chiara Locatelli, Lorenza Vitale, Maria Caracausi, Allison Piovesan, Alessandro Rocca, Giulia Poletti, Marco Seri, Pierluigi Strippoli, Guido Cocchi

Hum Mol Genet. 2016 Jun 15; 25(12): 2525–2538. Published online 2016 Apr 22. doi: 10.1093/hmg/ddw116

PMCID:: PMC5181629

Article PDF–692K

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