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Items: 14

1.

VAChT overexpression increases acetylcholine at the synaptic cleft and accelerates aging of neuromuscular junctions.

Sugita S, Fleming LL, Wood C, Vaughan SK, Gomes MP, Camargo W, Naves LA, Prado VF, Prado MA, Guatimosim C, Valdez G.

Skelet Muscle. 2016 Oct 5;6:31. eCollection 2016.

2.

Structural correlates of affinity in fetal versus adult endplate nicotinic receptors.

Nayak TK, Chakraborty S, Zheng W, Auerbach A.

Nat Commun. 2016 Apr 22;7:11352. doi: 10.1038/ncomms11352.

3.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics., Bamshad MJ.

Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004.

4.

Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.

Hacohen Y, Jacobson LW, Byrne S, Norwood F, Lall A, Robb S, Dilena R, Fumagalli M, Born AP, Clarke D, Lim M, Vincent A, Jungbluth H.

Neurol Neuroimmunol Neuroinflamm. 2014 Dec 23;2(1):e57. doi: 10.1212/NXI.0000000000000057. eCollection 2015 Feb.

5.

Functional differences between neurotransmitter binding sites of muscle acetylcholine receptors.

Nayak TK, Bruhova I, Chakraborty S, Gupta S, Zheng W, Auerbach A.

Proc Natl Acad Sci U S A. 2014 Dec 9;111(49):17660-5. doi: 10.1073/pnas.1414378111. Epub 2014 Nov 24.

6.

Asymmetric transmitter binding sites of fetal muscle acetylcholine receptors shape their synaptic response.

Nayak TK, Auerbach A.

Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13654-9. doi: 10.1073/pnas.1308247110. Epub 2013 Jul 29.

7.

Acetylcholine negatively regulates development of the neuromuscular junction through distinct cellular mechanisms.

An MC, Lin W, Yang J, Dominguez B, Padgett D, Sugiura Y, Aryal P, Gould TW, Oppenheim RW, Hester ME, Kaspar BK, Ko CP, Lee KF.

Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10702-7. doi: 10.1073/pnas.1004956107. Epub 2010 May 24.

8.

Postsynaptic development of the neuromuscular junction in mice lacking the gamma-subunit of muscle nicotinic acetylcholine receptor.

Liu Y, Sugiura Y, Padgett D, Lin W.

J Mol Neurosci. 2010 Jan;40(1-2):21-6. doi: 10.1007/s12031-009-9248-x. Epub 2009 Aug 12.

9.

Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.

McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ramachandran V, Ott S, Chang YP, Levy D, Steinle N.

BMC Med Genet. 2008 Jul 14;9:67. doi: 10.1186/1471-2350-9-67.

10.

Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning.

Liu Y, Padgett D, Takahashi M, Li H, Sayeed A, Teichert RW, Olivera BM, McArdle JJ, Green WN, Lin W.

Development. 2008 Jun;135(11):1957-67. doi: 10.1242/dev.018119. Epub 2008 Apr 23.

11.

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER.

Am J Hum Genet. 2008 Jan;82(1):222-7. doi: 10.1016/j.ajhg.2007.09.016.

12.

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER.

Am J Hum Genet. 2006 Aug;79(2):390-5. Epub 2006 Jun 20.

13.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S.

Am J Hum Genet. 2006 Aug;79(2):303-12. Epub 2006 Jun 20.

14.

Acetylcholine receptor channel subtype directs the innervation pattern of skeletal muscle.

Koenen M, Peter C, Villarroel A, Witzemann V, Sakmann B.

EMBO Rep. 2005 Jun;6(6):570-6.

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