PMC Links for Nucleotide (Select 1675133955) - PMC

Select item 29090321.

A mutation in the SEPN1 SRE reduces selenocysteine incorporation and leads to SEPN1-related myopathy

Baijayanta Maiti, Sandrine Arbogast, Valérie Allamand, Mark Moyle, Christine Anderson, Pascale Richard, Pascale Guicheney, Ana Ferreiro, Kevin Flanigan, Michael Howard

Hum Mutat. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Hum Mutat. 2009 Mar; 30(3): 411–416. doi: 10.1002/humu.20879

PMCID:: PMC2909032

Abstract Article PDF–377K

Select item 14569202.

A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

Valérie Allamand, Pascale Richard, Alain Lescure, Céline Ledeuil, Delphine Desjardin, Nathalie Petit, Corine Gartioux, Ana Ferreiro, Alain Krol, Nadine Pellegrini, J Andoni Urtizberea, Pascale Guicheney

EMBO Rep. 2006 Apr; 7(4): 450–454. Published online 2006 Feb 24. doi: 10.1038/sj.embor.7400648

PMCID:: PMC1456920

Abstract Article PDF–130K

Select item 11425743.

Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons

Michael T Howard, Gaurav Aggarwal, Christine B Anderson, Shikha Khatri, Kevin M Flanigan, John F Atkins

EMBO J. 2005 Apr 20; 24(8): 1596–1607. Published online 2005 Mar 24. doi: 10.1038/sj.emboj.7600642

PMCID:: PMC1142574

Abstract Article PDF–930K

Select item 53810004.

Non-photonic sensing of membrane-delimited reactive species with a Na⁺ channel protein containing selenocysteine

Navin K. Ojha, Enrico Leipold, Roland Schönherr, Toshinori Hoshi, Stefan H. Heinemann

Sci Rep. 2017; 7: 46003. Published online 2017 Apr 5. doi: 10.1038/srep46003

PMCID:: PMC5381000

Abstract Article PDF–1.0M

Select item 50378905.

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Dorota Monies, Hindi N. Alhindi, Mohamed A. Almuhaizea, Mohamed Abouelhoda, Anas M. Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M. Wakil, Nada A. Altassan, Brian F. Meyer, Saeed Bohlega

Hum Genomics. 2016; 10: 32. Published online 2016 Sep 27. doi: 10.1186/s40246-016-0089-8

PMCID:: PMC5037890

Abstract Article PDF–349K

Select item 47204336.

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

Dennis Lal, Bernd A. Neubauer, Mohammad R. Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel

PLoS One. 2016; 11(1): e0146040. Published online 2016 Jan 20. doi: 10.1371/journal.pone.0146040

PMCID:: PMC4720433

Abstract Article PDF–2.5M

Select item 39376967.

Interplay between Selenium Levels, Selenoprotein Expression, and Replicative Senescence in WI-38 Human Fibroblasts

Yona Legrain, Zahia Touat-Hamici, Laurent Chavatte

J Biol Chem. 2014 Feb 28; 289(9): 6299–6310. Published online 2014 Jan 14. doi: 10.1074/jbc.M113.526863

PMCID:: PMC3937696

Abstract Article PDF–1.4M

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