Property Summary

NCBI Gene PubMed Count 45
PubMed Score 39.77
PubTator Score 67.90

Knowledge Summary

Patent (1,312)

Expression

Protein-protein Interaction (3)

Gene RIF (23)

PMID Text
22178625 This study provied that new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR epsilonL221F mutation.
21715663 Targeting nAChR could offer a strategy for reducing neurodegeneration secondary to hyperphosphorylation of protein tau.
21470676 The mutations in the varepsilon subunit altered Ca(2+) permeability of AChR-channels, with varepsilon(L269F) increasing P(f) and varepsilon(I257F) decreasing it.
21175599 mutational analysis of CHRNE revealed a homozygous 1293insG, which is a well-known low-expressor receptor mutation in patients with epidermolysis bullosa simplex and congenital myasthenic syndrome.
21150643 Three siblings have a clinical history and examination findings typical of homozygous CHRNE mutations; clinical presentation of congenital myasthenia subtypes is variable, and accurate genotyping is essential in choosing appropriate treatment.
20864527 analysis of symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating
20734064 Observational study of gene-disease association. (HuGE Navigator)
19544078 We have identified mutations within the acetylcholine receptor (AChR) epsilon-subunit gene underlying congenital myasthenic syndromes in nine patients (seven kinships) of Dutch origin.
19259974 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19064877 These results strongly support the hypothesis that epsilon1293insG mutations in a myasthenic syndrome derives from an ancient single founder event in the North African population.
18657869 The greater abundance of mRNA for AChR epsilon-subunit than for other subunits suggests that the AChR epsilon-subunit may play a distinctive role in autosensitization in MG-associated thymomas, particularly those of type A or AB.
17363247 This is the first synonymous mutation in CHRNE known to generate a cryptic splice site, and mRNA quantification strongly suggests that it is the disease-causing mutation.
17304221 Upon activation of AChR, GABP recruits the histone acetyl transferase (HAT) p300 on the AChR epsilon subunit promoter, whereas it rather recruits the histone deacetylase HDAC1 when the promoter is not activated.
17272341 enhanced Ca2+ permeability of the mutant receptors overrides the protective effect of desensitization and, together with the prolonged opening events of the AChR channel, is important in slow channel syndromes
16527851 the intrinsically high Ca2+ permeability of human AChRs probably predisposes to development of the endplate myopathy when opening events of the AChR channel are prolonged by altered AChR-channel kinetics
16198106 a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation(novel valine to phenylalanine mutation ) in the epsilon subunit of the acetylcholine receptor.
16087917 Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene. T
15652413 AChR epsilon-chain peptides are tested for their in vitro ability to activate peripheral blood mononuclear leukocytes of myasthenia gravis (MG) patients; MG patient cells are stimulated, whereas cells from nonmyasthenic subjects do not respond.
14981744 Observational study of gene-disease association. (HuGE Navigator)
14592868 It was found that mutations within muscle AChRs are the most common cause of CMS. The majority are located within the epsilon-subunit gene and result in AChR deficiency.
14532324 There was deletion in exon 7 of CHRNE. We cloned the entire CHRNE spanning 12 exons and 11 introns and expressed it in COS cells
12562900 two binding sites differ by roughly 10-fold in the affinity of the shut receptor for ACh in the wild type, and that in the epsilonL221F mutation the lower affinity is increased so the sites become more similar.

AA Sequence

MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNLISLNEKEETL      1 - 70
TTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLP     71 - 140
PAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFC    141 - 210
PGVIRRHHGGATDGPGETDVIYSLIIRRKPLFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVL    211 - 280
LAQTVFLFLIAQKIPETSLSVPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELL    281 - 350
PRLLGSPPPPEAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV    351 - 420
RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFNRVPDLPYAPC    421 - 490
IQP                                                                       491 - 493
//

Text Mined References (46)

PMID Year Title
22592360 2012 Highly fatal fast-channel syndrome caused by AChR ? subunit mutation at the agonist binding site.
22178625 2012 A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR ?L221F mutation.
21715663 2011 Neurotoxicity induced by okadaic acid in the human neuroblastoma SH-SY5Y line can be differentially prevented by ?7 and ?2* nicotinic stimulation.
21470676 2011 Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel.
21175599 2011 Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
21150643 2011 Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
20864527 2010 Subunit symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
19544078 2009 AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
19259974 2009 Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
19086053 2009 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.
19064877 2008 The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.
19059502 2009 Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties.
18657869 2008 Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis.
17363247 2007 A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.
17304221 2007 Postsynaptic chromatin is under neural control at the neuromuscular junction.
17272341 2007 Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor.
16527851 2006 The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading.
16198106 2005 IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit.
16087917 2005 An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.
15652413 2005 Myasthenia gravis patients, but not healthy subjects, recognize epitopes that are unique to the epsilon-subunit of the acetylcholine receptor.
15367858 2004 Congenital myasthenic syndromes.
15322984 2004 Mutation history of the roma/gypsies.
14981744 2004 Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis.
14592868 2003 Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
14532324 2003 A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.
12562900 2003 Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits.
12141316 2002 Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.
12087176 2002 Overlapping of MINK and CHRNE gene loci in the course of mammalian evolution.
11030414 2000 Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations.
10962020 2000 Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.
10719961 2000 Additive inhibition of nicotinic acetylcholine receptors by corticosteroids and the neuromuscular blocking drug vecuronium.
10534268 1999 A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
10514102 1999 Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.
10211467 1999 Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.
9158150 1997 Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.
8957026 1996 End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.
8872460 1996 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
8755487 1996 Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
8232384 1993 Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor.
7958418 1994 Nerve-dependent induction of AChR epsilon-subunit gene expression in muscle is independent of state of differentiation.
7902325 1993 Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17.
7688301 1993 Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits.
7538206 1995 A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.
7531341 1995 Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
1712080 1991 Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor.