PMC Links for Nucleotide (Select 87159817) - PMC

Select item 52946681.

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 52265122.

Prognostic significance and function of the vacuolar H⁺-ATPase subunit V1E1 in esophageal squamous cell carcinoma

Sung Wook Son, Seok-Hyung Kim, Eun-Yi Moon, Dong-Hoon Kim, Suhkneung Pyo, Sung Hee Um

Oncotarget. 2016 Aug 2; 7(31): 49334–49348. Published online 2016 Jun 30. doi: 10.18632/oncotarget.10340

PMCID:: PMC5226512

Abstract Article PDF–9.4M

Select item 45190373.

Polarization of the Vacuolar Adenosine Triphosphatase Delineates a Transition to High-Grade Pancreatic Intraepithelial Neoplasm Lesions

Bharath K. Sreekumar, Glenn S. Belinsky, Henrik Einwachter, Andrew D. Rhim, Roland Schmid, Chuhan Chung

Pancreas. Author manuscript; available in PMC 2015 Jul 29.

Published in final edited form as: Pancreas. 2014 Nov; 43(8): 1256–1263. doi: 10.1097/MPA.0000000000000201

PMCID:: PMC4519037

Abstract Article PDF–2.5M

Select item 34211274.

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

Jeroen Knijnenburg, Yolande van Bever, Lorette O M Hulsman, Chantal A P van Kempen, Galhana M Bolman, Rosa Laura E van Loon, H Berna Beverloo, Laura J C M van Zutven

Eur J Hum Genet. 2012 Sep; 20(9): 986–989. Published online 2012 Mar 7. doi: 10.1038/ejhg.2012.43

PMCID:: PMC3421127

Abstract Article PDF–419K

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 62760906.

V-ATPases and osteoclasts: ambiguous future of V-ATPases inhibitors in osteoporosis

Xiaohong Duan, Shaoqing Yang, Lei Zhang, Tielin Yang

Theranostics. 2018; 8(19): 5379–5399. Published online 2018 Oct 26. doi: 10.7150/thno.28391

PMCID:: PMC6276090

Abstract Article PDF–1.2M

Select item 28357357.

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

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