PMC Links for Nucleotide (Select 1519499556) - PMC

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Items: 15

Select item 67426461.

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

Abstract Article PDF–1.2M

Select item 65549672.

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen

BMC Med Genet. 2019; 20: 101. Published online 2019 Jun 7. doi: 10.1186/s12881-019-0803-1

PMCID:: PMC6554967

Abstract Article PDF–2.7M

Select item 70368453.

Characterization of Lysine Acetyltransferase Activity of Recombinant Human ARD1/NAA10

Tam Thuy Lu Vo, Ji-Hyeon Park, Eun Ji Lee, Yen Thi Kim Nguyen, Byung Woo Han, Hien Thi Thu Nguyen, Kyo Cheol Mun, Eunyoung Ha, Taeg Kyu Kwon, Kyu-Won Kim, Chul-Ho Jeong, Ji Hae Seo

Molecules. 2020 Feb; 25(3): 588. Published online 2020 Jan 29. doi: 10.3390/molecules25030588

PMCID:: PMC7036845

Abstract Article PDF–2.2M

Select item 68022034.

Causes and Consequences of A Glutamine Induced Normoxic HIF1 Activity for the Tumor Metabolism

Matthias Kappler, Ulrike Pabst, Claus Weinholdt, Helge Taubert, Swetlana Rot, Tom Kaune, Johanna Kotrba, Martin Porsch, Antje Güttler, Matthias Bache, Knut Krohn, Fabian Bull, Anne Riemann, Claudia Wickenhauser, Barbara Seliger, Johannes Schubert, Bilal Al-Nawas, Oliver Thews, Ivo Grosse, Dirk Vordermark, Alexander W. Eckert

Int J Mol Sci. 2019 Oct; 20(19): 4742. Published online 2019 Sep 24. doi: 10.3390/ijms20194742

PMCID:: PMC6802203

Abstract Article PDF–4.9M

Select item 66607005.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 61421906.

FIH permits NAA10 to catalyze the oxygen-dependent lysyl-acetylation of HIF-1α

Jengmin Kang, Yang-Sook Chun, June Huh, Jong-Wan Park

Redox Biol. 2018 Oct; 19: 364–374. Published online 2018 Sep 7. doi: 10.1016/j.redox.2018.09.002

PMCID:: PMC6142190

Abstract Article PDF–2.2M

Select item 46495357.

Arrest defective 1 regulates the oxidative stress response in human cells and mice by acetylating methionine sulfoxide reductase A

S-H Shin, H Yoon, Y-S Chun, H-W Shin, M-N Lee, G T Oh, J-W Park

Cell Death Dis. 2014 Oct; 5(10): e1490. Published online 2014 Oct 23. doi: 10.1038/cddis.2014.456

PMCID:: PMC4649535

Abstract Article PDF–1.8M

Select item 45947678.

A conserved set of maternal genes? Insights from a molluscan transcriptome

M. MAUREEN LIU, JOHN W. DAVEY, DANIEL J. JACKSON, MARK L. BLAXTER, ANGUS DAVISON

Int J Dev Biol. Author manuscript; available in PMC 2015 Oct 6.

Published in final edited form as: Int J Dev Biol. 2014; 58(6-8): 501–511. doi: 10.1387/ijdb.140121ad

PMCID:: PMC4594767

Abstract Article PDF–1004K

Select item 44614839.

The biological functions of Naa10 — From amino-terminal acetylation to human disease

Max J. Dörfel, Gholson J. Lyon

Gene. Author manuscript; available in PMC 2016 Aug 10.

Published in final edited form as: Gene. 2015 Aug 10; 567(2): 103–131. Published online 2015 May 16. doi: 10.1016/j.gene.2015.04.085

PMCID:: PMC4461483

Abstract Article PDF–1.1M

Select item 429124110.

Prioritizing genes for X-linked diseases using population exome data

Xiaoyan Ge, Pui-Yan Kwok, Joseph T.C. Shieh

Hum Mol Genet. 2015 Feb 1; 24(3): 599–608. Published online 2014 Sep 12. doi: 10.1093/hmg/ddu473

PMCID:: PMC4291241

Abstract Article PDF–439K

Select item 324281311.

Expression of human NAA11 (ARD1B) gene is tissue-specific and is regulated by DNA methylation

Alan LY Pang, Jessica Clark, Wai-Yee Chan, Owen M Rennert

Epigenetics. 2011 Nov; 6(11): 1391–1399. Published online 2011 Nov 1. doi: 10.4161/epi.6.11.18125

PMCID:: PMC3242813

Abstract Article PDF–2.3M

Select item 276082612.

Gene expression in human lupus: bone marrow differentiates active from inactive patients and displays apoptosis and granulopoiesis signatures

Magdalene Nakou, Nicholas Knowlton, Mark B. Frank, George Bertsias, Jeanette Osban, Clayton E. Sandel, Eleni Papadaki, Amalia Raptopoulou, Prodromos Sidiropoulos, Heraklis Kritikos, Ioannis Tassiulas, Michael Centola, Dimitrios T. Boumpas

Arthritis Rheum. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Arthritis Rheum. 2008 Nov; 58(11): 3541–3549. doi: 10.1002/art.23961