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Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations. Muscle Nerve. 2021 08; 64(2):219-224.
Maselli RA, Wei DT, Hodgson TS, Sampson JB, Vazquez J, Smith HL, Pytel P, Ferns M. PMID: 34037996.
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5 Fields:
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HumansCells
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An Inside Job: Molecular Determinants for Postsynaptic Localization of Nicotinic Acetylcholine Receptors. Molecules. 2021 May 21; 26(11).
Ferns M. PMID: 34063759; PMCID: PMC8196675.
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1 Fields:
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AnimalsCells
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Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. Am J Med Genet A. 2020 07; 182(7):1744-1749.
Maselli RA, van der Linden H, Ferns M. PMID: 32250532.
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7 Fields:
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HumansCells
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The MX-Helix of Muscle nAChR Subunits Regulates Receptor Assembly and Surface Trafficking. Front Mol Neurosci. 2020; 13:48.
Rudell JC, Borges LS, Yarov-Yarovoy V, Ferns M. PMID: 32265653; PMCID: PMC7105636.
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3
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Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4. Hum Mol Genet. 2019 08 15; 28(16):2648-2658.
Rudell JB, Maselli RA, Yarov-Yarovoy V, Ferns MJ. PMID: 30994901; PMCID: PMC6687949.
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6 Fields:
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HumansCells
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Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Mol Genet Genomic Med. 2018 05; 6(3):434-440.
Maselli RA, Vázquez J, Schrumpf L, Arredondo J, Lara M, Strober JB, Pytel P, Wollmann RL, Ferns M. PMID: 29441694; PMCID: PMC6014458.
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4 Fields:
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HumansCells
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Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. J Biol Chem. 2014 Jan 03; 289(1):203-14.
Rudell JC, Borges LS, Rudell JB, Beck KA, Ferns MJ. PMID: 24240098; PMCID: PMC3879544.
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5 Fields:
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HumansAnimalsCells
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Regulation of muscle acetylcholine receptor turnover by β subunit tyrosine phosphorylation. Dev Neurobiol. 2013 May; 73(5):399-410.
Rudell JB, Ferns MJ. PMID: 23325468.
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5 Fields:
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AnimalsCells
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Animal models of antimuscle-specific kinase myasthenia. Ann N Y Acad Sci. 2012 Dec; 1274:140-7.
Richman DP, Nishi K, Ferns MJ, Schnier J, Pytel P, Maselli RA, Agius MA. PMID: 23252909; PMCID: PMC3915870.
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4 Fields:
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AnimalsCells
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Synaptic basal lamina-associated congenital myasthenic syndromes. Ann N Y Acad Sci. 2012 Dec; 1275:36-48.
Maselli RA, Arredondo J, Ferns MJ, Wollmann RL. PMID: 23278576.
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16 Fields:
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HumansAnimalsCells
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LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Hum Genet. 2012 Jul; 131(7):1123-35.
Maselli RA, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJ. PMID: 22205389; PMCID: PMC4795461.
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45 Fields:
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HumansCells
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Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changes. Arch Neurol. 2012 Apr; 69(4):453-60.
Richman DP, Nishi K, Morell SW, Chang JM, Ferns MJ, Wollmann RL, Maselli RA, Schnier J, Agius MA. PMID: 22158720; PMCID: PMC3915865.
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PubMed Mentions:
16 Fields:
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AnimalsCells
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Rapsyn interacts with the muscle acetylcholine receptor via alpha-helical domains in the alpha, beta, and epsilon subunit intracellular loops. Neuroscience. 2009 Sep 29; 163(1):222-32.
Lee Y, Rudell J, Ferns M. PMID: 19482062; PMCID: PMC2728176.
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19 Fields:
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AnimalsCells
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Identification of a motif in the acetylcholine receptor beta subunit whose phosphorylation regulates rapsyn association and postsynaptic receptor localization. J Neurosci. 2008 Nov 05; 28(45):11468-76.
Borges LS, Yechikhov S, Lee YI, Rudell JB, Friese MB, Burden SJ, Ferns MJ. PMID: 18987183; PMCID: PMC2606670.
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35 Fields:
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AnimalsCells
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Rapsyn carboxyl terminal domains mediate muscle specific kinase-induced phosphorylation of the muscle acetylcholine receptor. Neuroscience. 2008 Jun 02; 153(4):997-1007.
Lee Y, Rudell J, Yechikhov S, Taylor R, Swope S, Ferns M. PMID: 18436384; PMCID: PMC2587422.
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11 Fields:
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AnimalsCells
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Synaptic transmission is impaired at neuronal autonomic synapses in agrin-null mice. Dev Neurobiol. 2007 Apr; 67(5):521-34.
Gingras J, Rassadi S, Cooper E, Ferns M. PMID: 17443806.
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10 Fields:
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AnimalsCells
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Erratum to “Identification of agrinSN isoform and muscle-specific receptor tyrosine kinase (MuSK) in sperm” [Biochem. Biophys. Res. Commun. 342 (2006) 522–528]. Biochemical and Biophysical Research Communications. 2006 May 1; 344(1):453.
Kumar KP, Ferns FM, Meizel MS. .
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Identification of agrinSN isoform and muscle-specific receptor tyrosine kinase (MuSK) [corrected] in sperm. Biochem Biophys Res Commun. 2006 Apr 07; 342(2):522-8.
Kumar P, Ferns MJ, Meizel S. PMID: 16487930.
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6 Fields:
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HumansAnimalsCells
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Agrin becomes concentrated at neuroeffector junctions in developing rodent urinary bladder. Cell Tissue Res. 2005 Apr; 320(1):115-25.
Gingras J, Spicer J, Altares M, Zhu Q, Kuchel GA, Ferns M. PMID: 15711988.
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4 Fields:
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AnimalsCells
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Agrin regulates rapsyn interaction with surface acetylcholine receptors, and this underlies cytoskeletal anchoring and clustering. J Biol Chem. 2003 Feb 28; 278(9):7350-9.
Moransard M, Borges LS, Willmann R, Marangi PA, Brenner HR, Ferns MJ, Fuhrer C. PMID: 12486121.
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43 Fields:
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AnimalsCells
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Agrin plays an organizing role in the formation of sympathetic synapses. J Cell Biol. 2002 Sep 16; 158(6):1109-18.
Gingras J, Rassadi S, Cooper E, Ferns M. PMID: 12221070; PMCID: PMC2173215.
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24 Fields:
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AnimalsCells
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Dual role for calcium in agrin signaling and acetylcholine receptor clustering. J Neurobiol. 2002 Jan; 50(1):69-79.
Borges LS, Lee Y, Ferns M. PMID: 11748634.
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6 Fields:
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AnimalsCells
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Expression and localization of agrin during sympathetic synapse formation in vitro. J Neurobiol. 2001 Sep 05; 48(3):228-42.
Gingras J, Ferns M. PMID: 11466709.
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7 Fields:
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AnimalsCells
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Challenging the neurocentric view of neuromuscular synapse formation. Neuron. 2001 May; 30(2):311-4.
Ferns M, Carbonetto S. PMID: 11394994.
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5 Fields:
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AnimalsCells
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Agrin-induced phosphorylation of the acetylcholine receptor regulates cytoskeletal anchoring and clustering. J Cell Biol. 2001 Apr 02; 153(1):1-12.
Borges LS, Ferns M. PMID: 11285269; PMCID: PMC2185523.
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41 Fields:
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AnimalsCells
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Agrin-independent activation of the agrin signal transduction pathway. J Neurobiol. 1999 Sep 05; 40(3):356-65.
Grow WA, Ferns M, Gordon H. PMID: 10440735.
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7 Fields:
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AnimalsCells
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A mechanism for acetylcholine receptor clustering distinct from agrin signaling. Dev Neurosci. 1999; 21(6):436-43.
Grow WA, Ferns M, Gordon H. PMID: 10640862.
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4 Fields:
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AnimalsCells
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alpha-Dystroglycan functions in acetylcholine receptor aggregation but is not a coreceptor for agrin-MuSK signaling. J Neurosci. 1998 Aug 15; 18(16):6340-8.
Jacobson C, Montanaro F, Lindenbaum M, Carbonetto S, Ferns M. PMID: 9698325; PMCID: PMC6793207.
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28 Fields:
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AnimalsCells
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Muscle and neural isoforms of agrin increase utrophin expression in cultured myotubes via a transcriptional regulatory mechanism. J Biol Chem. 1998 Jan 09; 273(2):736-43.
Gramolini AO, Burton EA, Tinsley JM, Ferns MJ, Cartaud A, Cartaud J, Davies KE, Lunde JA, Jasmin BJ. PMID: 9422725.
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25 Fields:
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AnimalsCells
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Neural agrin activates a high-affinity receptor in C2 muscle cells that is unresponsive to muscle agrin. J Neurosci. 1996 Jun 15; 16(12):3791-7.
Bowen DC, Sugiyama J, Ferns M, Hall ZW. PMID: 8656273; PMCID: PMC6578624.
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PubMed Mentions:
10 Fields:
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AnimalsCells
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Agrin-induced acetylcholine receptor clustering in mammalian muscle requires tyrosine phosphorylation. J Cell Biol. 1996 Mar; 132(5):937-44.
Ferns M, Deiner M, Hall Z. PMID: 8603924; PMCID: PMC2120739.
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45 Fields:
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AnimalsCells
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The nicotinic acetylcholine receptor at the neuromuscular junction: assembly and tyrosine phosphorylation. Cold Spring Harb Symp Quant Biol. 1996; 61:363-71.
Wang ZZ, Fuhrer C, Shtrom S, Sugiyama JE, Ferns MJ, Hall ZW. PMID: 9246465.
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1 Fields:
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HumansAnimalsCells
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Chick wing innervation. III. Formation of axon collaterals in developing peripheral nerves. J Comp Neurol. 1995 Jun 26; 357(2):272-80.
Ferns MJ, Hollyday M. PMID: 7665729.
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4 Fields:
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AnimalsCells
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The ability of agrin to cluster AChRs depends on alternative splicing and on cell surface proteoglycans. Neuron. 1993 Sep; 11(3):491-502.
Ferns MJ, Campanelli JT, Hoch W, Scheller RH, Hall Z. PMID: 8398142.
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98 Fields:
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AnimalsCells
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Developmental regulation of highly active alternatively spliced forms of agrin. Neuron. 1993 Sep; 11(3):479-90.
Hoch W, Ferns M, Campanelli JT, Hall ZW, Scheller RH. PMID: 8398141.
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57 Fields:
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AnimalsCells
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Motor innervation of dorsoventrally reversed wings in chick/quail chimeric embryos. J Neurosci. 1993 Jun; 13(6):2463-76.
Ferns MJ, Hollyday M. PMID: 8501518; PMCID: PMC6576488.
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PubMed Mentions:
7 Fields:
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AnimalsCells
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How many agrins does it take to make a synapse? Cell. 1992 Jul 10; 70(1):1-3.
Ferns MJ, Hall ZW. PMID: 1320460.
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20 Fields:
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AnimalsCells
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RNA splicing regulates agrin-mediated acetylcholine receptor clustering activity on cultured myotubes. Neuron. 1992 Jun; 8(6):1079-86.
Ferns M, Hoch W, Campanelli JT, Rupp F, Hall ZW, Scheller RH. PMID: 1319184.
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55 Fields:
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AnimalsCells
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Agrin: a synaptic basal lamina protein that regulates development of the neuromuscular junction. Cold Spring Harb Symp Quant Biol. 1992; 57:461-72.
Campanelli JT, Ferns M, Hoch W, Rupp F, von Zastrow M, Hall Z, Scheller RH. PMID: 1339682.
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PubMed Mentions:
5 Fields:
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AnimalsCells
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Peripheral competition in the control of sensory neuron numbers in Xenopus frogs reared with a single bilaterally innervated hindlimb. Brain Res Dev Brain Res. 1989 Jan 01; 45(1):149-53.
Lamb AH, Ferns MJ, Klose K. PMID: 2917408.
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AnimalsCells