PMC Links for OMIM (Select 103320) - PMC

Select item 66879491.

Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4

John B Rudell, Ricardo A Maselli, Vladimir Yarov-Yarovoy, Michael J Ferns

Hum Mol Genet. 2019 Aug 15; 28(16): 2648–2658. Published online 2019 Apr 17. doi: 10.1093/hmg/ddz081

PMCID:: PMC6687949

Abstract Article PDF–20M

Select item 65757262.

Structure and chromosomal localization of the mammalian agrin gene

F Rupp, T Ozcelik, M Linial, K Peterson, U Francke, R Scheller

J Neurosci. 1992 Sep 1; 12(9): 3535–3544. doi: 10.1523/JNEUROSCI.12-09-03535.1992

PMCID:: PMC6575726

Abstract PDF–1.6M

Select item 57699303.

The extracellular matrix protein agrin promotes heart regeneration in mice

Elad Bassat, Yara Eid Mutlak, Alex Genzelinakh, Ilya Y. Shadrin, Kfir Baruch Umansky, Oren Yifa, David Kain, Dana Rajchman, John Leach, Daria Riabov Bassat, Yael Udi, Rachel Sarig, Irit Sagi, James F. Martin, Nenad Bursac, Shenhav Cohen, Eldad Tzahor

Nature. Author manuscript; available in PMC 2018 Jul 13.

Published in final edited form as: Nature. 2017 Jul 13; 547(7662): 179–184. Published online 2017 Jun 5. doi: 10.1038/nature22978

PMCID:: PMC5769930

Abstract Article PDF–1.7M

Select item 47954614.

LG2 Agrin Mutation Causing Severe Congenital Myasthenic Syndrome Mimics Functional Characteristics of Non-neural (z−) Agrin

Ricardo A. Maselli, Jose M. Fernandez, Juan Arredondo, Carmen Navarro, Maian Ngo, David Beeson, Órla Cagney, D. Colette Williams, Robert L. Wollmann, Vladimir Yarov-Yarovoy, Michael J Ferns

Hum Genet. Author manuscript; available in PMC 2016 Mar 17.

Published in final edited form as: Hum Genet. 2012 Jul; 131(7): 1123–1135. Published online 2011 Dec 29. doi: 10.1007/s00439-011-1132-4

PMCID:: PMC4795461

Abstract Article PDF–1.6M

Select item 27252395.

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Caroline Huzé, Stéphanie Bauché, Pascale Richard, Frédéric Chevessier, Evelyne Goillot, Karen Gaudon, Asma Ben Ammar, Annie Chaboud, Isabelle Grosjean, Heba-Aude Lecuyer, Véronique Bernard, Andrée Rouche, Nektaria Alexandri, Thierry Kuntzer, Michel Fardeau, Emmanuel Fournier, Andrea Brancaccio, Markus A. Rüegg, Jeanine Koenig, Bruno Eymard, Laurent Schaeffer, Daniel Hantaï

Am J Hum Genet. 2009 Aug 14; 85(2): 155–167. doi: 10.1016/j.ajhg.2009.06.015

Correction in:: Am J Hum Genet. 2009 Oct 9; 85(4): 536.

PMCID:: PMC2725239

Abstract Article PDF–1.8M

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