PMC Links for Nucleotide (Select 1519242286) - PMC

Select item 61173361.

Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors

Fresia Pareja, Alissa H. Brandes, Thais Basili, Pier Selenica, Felipe C. Geyer, Dan Fan, Arnaud Da Cruz Paula, Rahul Kumar, David N. Brown, Rodrigo Gularte-Mérida, Barbara Alemar, Rui Bi, Raymond S. Lim, Ino de Bruijn, Sho Fujisawa, Rui Gardner, Elvin Feng, Anqi Li, Edaise M. da Silva, John R. Lozada, Pedro Blecua, Leona Cohen-Gould, Achim A. Jungbluth, Emad A. Rakha, Ian O. Ellis, Maria I. A. Edelweiss, Juan Palazzo, Larry Norton, Travis Hollmann, Marcia Edelweiss, Brian P. Rubin, Britta Weigelt, Jorge S. Reis-Filho

Nat Commun. 2018; 9: 3533. Published online 2018 Aug 30. doi: 10.1038/s41467-018-05886-y

PMCID:: PMC6117336

Abstract Article PDF–5.0M

Select item 59456212.

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation

Peter Witters, Jeroen Breckpot, François Foulquier, Graem Preston, Jaak Jaeken, Eva Morava

Eur J Hum Genet. 2018 May; 26(5): 618–621. Published online 2017 Nov 30. doi: 10.1038/s41431-017-0044-8

PMCID:: PMC5945621

Article PDF–886K

Select item 57160373.

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Maria A. Rujano, Magda Cannata Serio, Ganna Panasyuk, Romain Péanne, Janine Reunert, Daisy Rymen, Virginie Hauser, Julien H. Park, Peter Freisinger, Erika Souche, Maria Clara Guida, Esther M. Maier, Yoshinao Wada, Stefanie Jäger, Nevan J. Krogan, Oliver Kretz, Susana Nobre, Paula Garcia, Dulce Quelhas, Thomas D. Bird, Wendy H. Raskind, Michael Schwake, Sandrine Duvet, Francois Foulquier, Gert Matthijs, Thorsten Marquardt, Matias Simons

J Exp Med. 2017 Dec 4; 214(12): 3707–3729. doi: 10.1084/jem.20170453

PMCID:: PMC5716037

Abstract Article PDF–3.8M

Select item 53912044.

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 48949755.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber

Nat Commun. 2016; 7: 11600. Published online 2016 May 27. doi: 10.1038/ncomms11600

PMCID:: PMC4894975

Abstract Article PDF–2.8M

Select item 12184846.

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 479047.

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.

S Bione, F Tamanini, E Maestrini, C Tribioli, A Poustka, G Torri, S Rivella, D Toniolo

Proc Natl Acad Sci U S A. 1993 Dec 1; 90(23): 10977–10981. doi: 10.1073/pnas.90.23.10977

PMCID:: PMC47904

Summary Page Browse PDF–1.2M

Select item 67215878.

Long Non-Coding RNAs Target Pathogenetically Relevant Genes and Pathways in Rheumatoid Arthritis

Marzia Dolcino, Elisa Tinazzi, Antonio Puccetti, Claudio Lunardi

Cells. 2019 Aug; 8(8): 816. Published online 2019 Aug 2. doi: 10.3390/cells8080816

PMCID:: PMC6721587

Abstract Article PDF–1.0M

Select item 48508889.

Whole-genome sequencing of a malignant granular cell tumor with metabolic response to pazopanib

Lei Wei, Song Liu, Jeffrey Conroy, Jianmin Wang, Antonios Papanicolau-Sengos, Sean T. Glenn, Mitsuko Murakami, Lu Liu, Qiang Hu, Jacob Conroy, Kiersten Marie Miles, David E. Nowak, Biao Liu, Maochun Qin, Wiam Bshara, Angela R. Omilian, Karen Head, Michael Bianchi, Blake Burgher, Christopher Darlak, John Kane, Mihai Merzianu, Richard Cheney, Andrew Fabiano, Kilian Salerno, Chetasi Talati, Nikhil I. Khushalani, Donald L. Trump, Candace S. Johnson, Carl D. Morrison

Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1): a000380. doi: 10.1101/mcs.a000380

PMCID:: PMC4850888

Abstract Article PDF–2.2M

Select item 483167610.

Hypoxia Induces Autophagy through Translational Up-Regulation of Lysosomal Proteins in Human Colon Cancer Cells

Ming-Chih Lai, Chiao-May Chang, H. Sunny Sun

PLoS One. 2016; 11(4): e0153627. Published online 2016 Apr 14. doi: 10.1371/journal.pone.0153627

PMCID:: PMC4831676

Abstract Article PDF–3.6M

Select item 274733011.

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

Select item 252749012.

Role of Caveolin 1, E-Cadherin, Enolase 2 and PKCalpha on resistance to methotrexate in human HT29 colon cancer cells

Elisabet Selga, Cristina Morales, Véronique Noé, Miguel A Peinado, Carlos J Ciudad

BMC Med Genomics. 2008; 1: 35. Published online 2008 Aug 11. doi: 10.1186/1755-8794-1-35

PMCID:: PMC2527490

Abstract Article PDF–409K

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