PMC Links for GEO Profiles (Select 83637037) - PMC

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Items: 4

Select item 37445681.

Substitution p.A350V in Na⁺/Mg²⁺ Exchanger SLC41A1, Potentially Associated with Parkinson's Disease, Is a Gain-of-Function Mutation

Martin Kolisek, Gerhard Sponder, Lucia Mastrototaro, Alina Smorodchenko, Pierre Launay, Juergen Vormann, Monika Schweigel-Röntgen

PLoS One. 2013; 8(8): e71096. Published online 2013 Aug 15. doi: 10.1371/journal.pone.0071096

PMCID:: PMC3744568

Abstract Article PDF–1.1M

Select item 36653982.

Mutation of the Mg²⁺ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype

Toby W. Hurd, Edgar A. Otto, Eikan Mishima, Heon Yung Gee, Hana Inoue, Masato Inazu, Hideomi Yamada, Jan Halbritter, George Seki, Masato Konishi, Weibin Zhou, Tsutomo Yamane, Satoshi Murakami, Gianluca Caridi, Gianmarco Ghiggeri, Takaaki Abe, Friedhelm Hildebrandt

J Am Soc Nephrol. 2013 May 31; 24(6): 967–977. Published online 2013 May 9. doi: 10.1681/ASN.2012101034

PMCID:: PMC3665398

Abstract Article

Select item 31780593.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 24142864.

SLC41A1 Is a Novel Mammalian Mg²⁺ Carrier

Martin Kolisek, Pierre Launay, Andreas Beck, Gerhard Sponder, Nicolas Serafini, Marcel Brenkus, Elisabeth Maria Froschauer, Holger Martens, Andrea Fleig, Monika Schweigel

J Biol Chem. 2008 Jun 6; 283(23): 16235–16247. doi: 10.1074/jbc.M707276200