PMC Links for Nucleotide (Select 1519313904) - PMC

Select item 59725841.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Carla Marini, Valerio Conti, Mitsuko Nakashima, Nobuhiko Okamoto, Akgun Olmez Turker, Burcu Albuz, C Nur Semerci Gündüz, Keiko Yanagihara, Elisa Belmonte, Luca Maragliano, Keri Ramsey, Chris Balak, Ashley Siniard, Vinodh Narayanan, C4RCD Research Group, Chihiro Ohba, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto, Fabio Benfenati, Renzo Guerrini

Brain. 2018 Jun; 141(6): 1703–1718. Published online 2018 Apr 13. doi: 10.1093/brain/awy092

PMCID:: PMC5972584

Abstract Article PDF–1.6M

Select item 54627742.

Expression and Transcriptional Regulation of Human ATP6V1A Gene in Gastric Cancers

Pin Wang, Lei Wang, Jie Sha, Guochun Lou, Nannan Lu, Bo Hang, Jian-Hua Mao, Xiaoping Zou

Sci Rep. 2017; 7: 3015. Published online 2017 Jun 7. doi: 10.1038/s41598-017-03021-3

PMCID:: PMC5462774

Abstract Article PDF–2.1M

Select item 53912043.

The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels

Anna L Miles, Stephen P Burr, Guinevere L Grice, James A Nathan

eLife. 2017; 6: e22693. Published online 2017 Mar 15. doi: 10.7554/eLife.22693

PMCID:: PMC5391204

Abstract Article PDF–9.4M

Select item 52946684.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Y. Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, G. Christoph Korenke, Brian H.Y. Chung, Christopher C.Y. Mak, Ingrid Hausser, Uwe Kornak, Björn Fischer-Zirnsak, Tim M. Strom, Thomas Meitinger, Yasemin Alanay, Gulen E. Utine, Peter K.C. Leung, Siavash Ghaderi-Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B. Haack, Fransiska Malfait, Eva Morava, Bert Callewaert, Ron A. Wevers

Am J Hum Genet. 2017 Feb 2; 100(2): 216–227. Published online 2017 Jan 5. doi: 10.1016/j.ajhg.2016.12.010

Correction in:: Am J Hum Genet. 2020 Aug 6; 107(2): 374.

PMCID:: PMC5294668

Abstract Article PDF–2.6M

Select item 12184845.

The vacuolar H+-ATPase: a universal proton pump of eukaryotes.

M E Finbow, M A Harrison

Biochem J. 1997 Jun 15; 324(Pt 3): 697–712. doi: 10.1042/bj3240697

PMCID:: PMC1218484

Summary PDF–530K

Select item 55040426.

Single-cell transcriptomics of East-Asian pancreatic islets cells

Rajkumar Dorajoo, Yusuf Ali, Vanessa S. Y. Tay, Jonathan Kang, Sudhagar Samydurai, Jianjun Liu, Bernhard O. Boehm

Sci Rep. 2017; 7: 5024. Published online 2017 Jul 10. doi: 10.1038/s41598-017-05266-4

PMCID:: PMC5504042

Abstract Article PDF–1.7M

Select item 42506727.

A microarray-based gastric carcinoma prewarning system

Da-Xiang Cui, Li Zhang, Xiao-Jun Yan, Ling-Xia Zhang, Jun-Rong Xu, Yan-Hai Guo, Gui-Qiu Jin, Giovani Gomez, Ding Li, Jin-Rong Zhao, Fen-Chan Han, Ju Zhang, Jia-Le Hu, Dai-Ming Fan, Hua-Jian Gao

World J Gastroenterol. 2005 Mar 7; 11(9): 1273–1282. Published online 2005 Mar 7. doi: 10.3748/wjg.v11.i9.1273

PMCID:: PMC4250672

Abstract Article PDF–638K

Select item 33985048.

Repression of genes involved in melanocyte differentiation in uveal melanoma

Marjorie-Allison Bergeron, Sophie Champagne, Manon Gaudreault, Alexandre Deschambeault, Solange Landreville

Mol Vis. 2012; 18: 1813–1822. Published online 2012 Jul 4.

PMCID:: PMC3398504

Abstract Article PDF–2.8M

Select item 28357359.

An Extended Nomenclature for Mammalian V-ATPase Subunit Genes and Splice Variants

Kevin C. Miranda, Fiona E. Karet, Dennis Brown

PLoS One. 2010; 5(3): e9531. Published online 2010 Mar 10. doi: 10.1371/journal.pone.0009531

PMCID:: PMC2835735

Abstract Article PDF–290K

Select item 274733010.

Endothelial effects of emission source particles: Acute toxic response gene expression profiles

Srikanth S. Nadadur, Najwa Haykal-Coates, Anuradha Mudipalli, Daniel L. Costa

Toxicol In Vitro. Author manuscript; available in PMC 2009 Sep 21.

Published in final edited form as: Toxicol In Vitro. 2009 Feb; 23(1): 67–77. Published online 2008 Nov 1. doi: 10.1016/j.tiv.2008.10.004

PMCID:: PMC2747330

Abstract Article PDF–519K

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