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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

Abstract 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

Abstract Article PDF–3.7M

Select item 68499453.

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

Abstract Article PDF–1.0M

Select item 65030134.

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

Abstract Article PDF–1.2M

Select item 64462225.

TranscriptAchilles: a genome-wide platform to predict isoform biomarkers of gene essentiality in cancer

Fernando Carazo, Lucía Campuzano, Xabier Cendoya, Francisco J Planes, Angel Rubio

Gigascience. 2019 Apr; 8(4): giz021. Published online 2019 Apr 3. doi: 10.1093/gigascience/giz021

PMCID:: PMC6446222

Abstract Article PDF–3.6M

Select item 63276416.

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

Abstract Article PDF–3.7M

Select item 63032487.

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

Abstract Article PDF–2.1M

Select item 62928948.

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

Abstract Article PDF–3.4M

Select item 62455979.

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

Abstract Article PDF–746K

Select item 612930810.

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

Abstract Article PDF–615K

Select item 604081011.

Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer’s Disease

Andre M. Miranda, Mathieu Herman, Rong Cheng, Eden Nahmani, Geoffrey Barrett, Elizabeta Micevska, Gaelle Fontaine, Marie-Claude Potier, Elizabeth Head, Frederick A. Schmitt, Ira T. Lott, Ivonne Z. Jiménez-Velázquez, Stylianos E. Antonarakis, Gilbert Di Paolo, Joseph H. Lee, S. Abid Hussaini, Catherine Marquer

Cell Rep. Author manuscript; available in PMC 2018 Jul 11.

Published in final edited form as: Cell Rep. 2018 Jun 5; 23(10): 2967–2975. doi: 10.1016/j.celrep.2018.05.011

PMCID:: PMC6040810

Abstract Article PDF–1011K

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

Abstract 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

Abstract Article PDF–353K

Select item 584127814.

Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations

Dominga Fasano, Silvia Parisi, Giovanna Maria Pierantoni, Anna De Rosa, Marina Picillo, Giuseppina Amodio, Maria Teresa Pellecchia, Paolo Barone, Ornella Moltedo, Vincenzo Bonifati, Giuseppe De Michele, Lucio Nitsch, Paolo Remondelli, Chiara Criscuolo, Simona Paladino

Cell Death Dis. 2018 Mar; 9(3): 385. Published online 2018 Mar 7. doi: 10.1038/s41419-018-0410-7

PMCID:: PMC5841278

Abstract Article PDF–4.5M

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

Abstract 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

Abstract 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

Abstract Article PDF–709K

Select item 543023618.

The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals

Roeland Vanhauwaert, Sabine Kuenen, Roy Masius, Adekunle Bademosi, Julia Manetsberger, Nils Schoovaerts, Laura Bounti, Serguei Gontcharenko, Jef Swerts, Sven Vilain, Marina Picillo, Paolo Barone, Shashini T Munshi, Femke MS de Vrij, Steven A Kushner, Natalia V Gounko, Wim Mandemakers, Vincenzo Bonifati, Frederic A Meunier, Sandra‐Fausia Soukup, Patrik Verstreken

EMBO J. 2017 May 15; 36(10): 1392–1411. Published online 2017 Mar 22. doi: 10.15252/embj.201695773

PMCID:: PMC5430236

Abstract Article PDF–6.6M

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

Abstract 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

Abstract Article PDF–692K

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Full text in PMC (nucleotide) for Gene (Select 8867) (36)
PMC
dbVar for Gene (Select 8867) (433)
dbVar
synaptojanin-1 isoform X6 [Homo sapiens]
synaptojanin-1 isoform X6 [Homo sapiens]
gi|2462583439|ref|XP_054180911.1|

Protein
PREDICTED: Homo sapiens synaptojanin 1 (SYNJ1), transcript variant X7, mRNA
PREDICTED: Homo sapiens synaptojanin 1 (SYNJ1), transcript variant X7, mRNA
gi|2217338347|ref|XM_017028499.3|

Nucleotide
synaptojanin-1 isoform X10 [Homo sapiens]
synaptojanin-1 isoform X10 [Homo sapiens]
gi|2217338353|ref|XP_047296996.1|

Protein

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