PMC Links for Nucleotide (Select 1675008589) - PMC

Select item 56736331.

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

Karin Writzl, Ales Maver, Lidija Kovačič, Paula Martinez-Valero, Laura Contreras, Jorgina Satrustegui, Marco Castori, Laurence Faivre, Pablo Lapunzina, André B.P. van Kuilenburg, Slobodanka Radović, Christel Thauvin-Robinet, Borut Peterlin, Araceli del Arco, Raoul C. Hennekam

Am J Hum Genet. 2017 Nov 2; 101(5): 844–855. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.017

PMCID:: PMC5673633

Abstract Article PDF–3.1M

Select item 56736232.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F. Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M. Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M. Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A. Bacino, Penelope E. Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak

Am J Hum Genet. 2017 Nov 2; 101(5): 833–843. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.016

PMCID:: PMC5673623

Abstract Article PDF–2.9M

Select item 41219573.

Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease

Leah C. Kottyan, Benjamin P. Davis, Joseph D. Sherrill, Kan Liu, Mark Rochman, Kenneth Kaufman, Matthew T. Weirauch, Samuel Vaughn, Sara Lazaro, Andrew M. Rupert, Mojtaba Kohram, Emily M. Stucke, Katherine A. Kemme, Albert Magnusen, Hua He, Phillip Dexheimer, Mirna Chehade, Robert A. Wood, Robbie D. Pesek, Brian P. Vickery, David M. Fleischer, Robert Lindbad, Hugh A. Sampson, Vince Mukkada, Phil E. Putnam, J. Pablo Abonia, Lisa J. Martin, John B. Harley, Marc E. Rothenberg

Nat Genet. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Nat Genet. 2014 Aug; 46(8): 895–900. Published online 2014 Jul 13. doi: 10.1038/ng.3033

PMCID:: PMC4121957

Abstract Article PDF–832K

Select item 39460544.

A self-sequestered calmodulin-like Ca²⁺ sensor of mitochondrial SCaMC carrier and its implication to Ca²⁺-dependent ATP-Mg/Pi transport

Qin Yang, Sven Brüschweiler, James J. Chou

Structure. Author manuscript; available in PMC 2015 Feb 4.

Published in final edited form as: Structure. 2014 Feb 4; 22(2): 209–217. Published online 2013 Dec 12. doi: 10.1016/j.str.2013.10.018

PMCID:: PMC3946054

Abstract Article PDF–3.0M

Select item 33079815.

SCaMC-1 promotes cancer cell survival by desensitizing mitochondrial permeability transition via ATP/ADP-mediated matrix Ca²⁺ buffering

J Traba, A del Arco, M R Duchen, G Szabadkai, J Satrústegui

Cell Death Differ. 2012 Apr; 19(4): 650–660. Published online 2011 Oct 21. doi: 10.1038/cdd.2011.139

PMCID:: PMC3307981

Abstract Article PDF–912K

Select item 29434766.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 40363467.

The Human Gene SLC25A29, of Solute Carrier Family 25, Encodes a Mitochondrial Transporter of Basic Amino Acids

Vito Porcelli, Giuseppe Fiermonte, Antonella Longo, Ferdinando Palmieri

J Biol Chem. 2014 May 9; 289(19): 13374–13384. Published online 2014 Mar 20. doi: 10.1074/jbc.M114.547448

PMCID:: PMC4036346

Abstract Article PDF–2.7M

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