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Items: 1 to 20 of 49

1.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor-Wollman T, Mimouni-Bloch A, Halevy A, Cohen R, Sagie L, Argov Z, Rabie M, Spiegel R, Chervinsky I, Orenstein N, Engel AG, Nevo Y.

Neuromuscul Disord. 2017 Feb;27(2):136-140. doi: 10.1016/j.nmd.2016.11.014. Epub 2016 Nov 24.

2.

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.

Shen XM, Okuno T, Milone M, Otsuka K, Takahashi K, Komaki H, Giles E, Ohno K, Engel AG.

Hum Mutat. 2016 Oct;37(10):1051-9. doi: 10.1002/humu.23043. Epub 2016 Aug 21.

3.

Cold-inducible RBM3 inhibits PERK phosphorylation through cooperation with NF90 to protect cells from endoplasmic reticulum stress.

Zhu X, Zelmer A, Kapfhammer JP, Wellmann S.

FASEB J. 2016 Feb;30(2):624-34. doi: 10.1096/fj.15-274639. Epub 2015 Oct 15.

PMID:
26472337
4.

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.

Chevessier F, Peter C, Mersdorf U, Girard E, Krejci E, McArdle JJ, Witzemann V.

Neurobiol Dis. 2012 Mar;45(3):851-61. doi: 10.1016/j.nbd.2011.10.024. Epub 2011 Dec 8.

PMID:
22178625
5.

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

Gaudet P, Livstone MS, Lewis SE, Thomas PD.

Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.

6.

Neurotoxicity induced by okadaic acid in the human neuroblastoma SH-SY5Y line can be differentially prevented by α7 and β2* nicotinic stimulation.

Del Barrio L, Martín-de-Saavedra MD, Romero A, Parada E, Egea J, Avila J, McIntosh JM, Wonnacott S, López MG.

Toxicol Sci. 2011 Sep;123(1):193-205. doi: 10.1093/toxsci/kfr163. Epub 2011 Jun 29.

PMID:
21715663
7.

Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel.

Piccari V, Deflorio C, Bigi R, Grassi F, Fucile S.

Cell Calcium. 2011 Apr;49(4):272-8. doi: 10.1016/j.ceca.2011.03.002. Epub 2011 Apr 5.

PMID:
21470676
8.

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RL.

Clin Genet. 2011 Nov;80(5):444-51. doi: 10.1111/j.1399-0004.2010.01602.x. Epub 2010 Dec 22.

PMID:
21175599
9.

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

Salih MA, Oystreck DT, Al-Faky YH, Kabiraj M, Omer MI, Subahi EM, Beeson D, Abu-Amero KK, Bosley TM.

J Neuroophthalmol. 2011 Mar;31(1):42-7. doi: 10.1097/WNO.0b013e3181f50bea.

PMID:
21150643
10.

Subunit symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating.

Bruhova I, Auerbach A.

J Biol Chem. 2010 Dec 10;285(50):38898-904. doi: 10.1074/jbc.M110.169110. Epub 2010 Sep 23.

11.

A large-scale candidate gene association study of age at menarche and age at natural menopause.

He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ.

Hum Genet. 2010 Nov;128(5):515-27. doi: 10.1007/s00439-010-0878-4. Epub 2010 Aug 24.

12.

Congenital Myasthenic Syndromes.

Abicht A, Müller J S, Lochmüller H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 May 9 [updated 2016 Jul 14].

13.

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

Faber CG, Molenaar PC, Vles JS, Bonifati DM, Verschuuren JJ, van Doorn PA, Kuks JB, Wokke JH, Beeson D, De Baets M.

J Neurol. 2009 Oct;256(10):1719-23. doi: 10.1007/s00415-009-5190-7. Epub 2009 Jun 21.

14.

Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.

Saccone NL, Saccone SF, Hinrichs AL, Stitzel JA, Duan W, Pergadia ML, Agrawal A, Breslau N, Grucza RA, Hatsukami D, Johnson EO, Madden PA, Swan GE, Wang JC, Goate AM, Rice JP, Bierut LJ.

Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):453-66. doi: 10.1002/ajmg.b.30828.

15.

Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.

Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A; Psychiatric Genetics Network Group.

Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):808-16. doi: 10.1002/ajmg.b.30902.

PMID:
19086053
16.

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D.

Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b.

PMID:
19064877
17.

Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties.

Zouridakis M, Zisimopoulou P, Eliopoulos E, Poulas K, Tzartos SJ.

Biochim Biophys Acta. 2009 Feb;1794(2):355-66. doi: 10.1016/j.bbapap.2008.11.002. Epub 2008 Nov 19.

PMID:
19059502
18.

Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis.

Maclennan CA, Vincent A, Marx A, Willcox N, Gilhus NE, Newsom-Davis J, Beeson D.

J Neuroimmunol. 2008 Sep 15;201-202:28-32. doi: 10.1016/j.jneuroim.2008.06.016. Epub 2008 Jul 26.

PMID:
18657869
19.

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

Richard P, Gaudon K, Fournier E, Jackson C, Bauché S, Haddad H, Koenig J, Echenne B, Hantaï D, Eymard B.

Neuromuscul Disord. 2007 May;17(5):409-14. Epub 2007 Mar 23.

PMID:
17363247
20.

Postsynaptic chromatin is under neural control at the neuromuscular junction.

Ravel-Chapuis A, Vandromme M, Thomas JL, Schaeffer L.

EMBO J. 2007 Feb 21;26(4):1117-28. Epub 2007 Feb 15.

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