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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Cholinergic receptor, nicotinic, alpha 1

CHRNA1, Acetylcholine receptor subunit, CHRNA
The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CHRND, 43-kDa, CHRNG, CAN, CHRNB1
Papers on CHRNA1
Loss of neurogenesis in Hydra leads to compensatory regulation of neurogenic and neurotransmission genes in epithelial cells.
New
Galliot et al., Genève, Switzerland. In Philos Trans R Soc Lond B Biol Sci, Feb 2016
By crossing these results with cell-type-specific transcriptomics, we identified epithelial genes up-regulated upon loss of neurogenesis: transcription factors (Dlx, Dlx1, DMBX1/Manacle, Ets1, Gli3, KLF11, LMX1A, ZNF436, Shox1), epitheliopeptides (Arminins, PW peptide), neurosignalling components (CAMK1D, DDCl2, Inx1), ligand-ion channel receptors (CHRNA1, NaC7), G-Protein Coupled Receptors and FMRFRL.
Atracurium Besylate and other neuromuscular blocking agents promote astroglial differentiation and deplete glioblastoma stem cells.
New
Bar et al., Cleveland, United States. In Oncotarget, Dec 2015
To investigate the clinical importance of nAChRs in gliomas, we examined clinical outcomes and found that glioma patients with tumors overexpressing CHRNA1 or CHRNA9 (encoding for the AChR-α1 or AChR-α9) exhibit significant shorter overall survival.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
New
Groffen et al., Amsterdam, Netherlands. In Eur J Hum Genet, Sep 2015
FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases.
Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes.
New
Ishiura et al., Tokyo, Japan. In Biochem Biophys Res Commun, Jul 2015
CHRNA1 encodes the α subunit of nicotinic acetylcholine receptors (nAChRs) and is expressed at the neuromuscular junction.
A DRD1 polymorphism predisposes to lung cancer among those exposed to secondhand smoke during childhood.
Ryan et al., Kuopio, Finland. In Cancer Prev Res (phila), 2014
CHRNA, CHRNB gene families, CYP2A6, and DRD1 (dopamine receptor D1) were mined for SNPs that fell within the seed region of miRNA binding sites and then tested for associations with risk in a three-stage validation approach.
Inherited disorders of the neuromuscular junction: an update.
Review
Beeson et al., Oxford, United Kingdom. In J Neurol, 2014
In addition, a pathogenic splicing mutation in a nonfunctional exon of CHRNA1 has been reported emphasizing the importance of analysing nonfunctional exons in genetic analysis.
Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens.
Colobran et al., Barcelona, Spain. In J Immunol, 2014
More importantly, decreased expression of AIRE was accompanied by a reduction of pGE because expression of tissue-restricted Ags, CHRNA1, GAD1, PLP1, KLK3, SAG, TG, and TSHR, was reduced.
Role of SLCO1B1, ABCB1, and CHRNA1 gene polymorphisms on the efficacy of rocuronium in Chinese patients.
Duan et al., Changsha, China. In J Clin Pharmacol, 2014
UNASSIGNED: This study explored the role of SLCO1B1, ABCB1, and CHRNA1 gene polymorphisms on the efficacy and duration of action of rocuronium in Chinese patients.
Congenital myasthenic syndromes and the neuromuscular junction.
Review
Beeson et al., Oxford, United Kingdom. In Curr Opin Neurol, 2014
However, mutations in lipoprotein-like receptor 4, a long-time candidate gene for congenital myasthenia, have now been described and a new pathogenic splicing mutation in the nonfunctional exon of CHRNA1 has been reported.
Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype.
Ekwall et al., Göteborg, Sweden. In J Immunol, 2014
AIRE mRNA levels were elevated in thymic tissue from DS patients, and trends toward increased expression of the AIRE-controlled genes INSULIN and CHRNA1 were found.
Identifying genetic variants for heart rate variability in the acetylcholine pathway.
Snieder et al., Groningen, Netherlands. In Plos One, 2013
We assessed whether 443 genotyped and imputed common genetic variants in eight key genes (CHAT, SLC18A3, SLC5A7, CHRNB4, CHRNA3, CHRNA, CHRM2 and ACHE) of the acetylcholine pathway were associated with variation in an established measure of heart rate variability reflecting parasympathetic control of the heart rhythm, the root mean square of successive differences (RMSSD) of normal RR intervals.
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Review
Membres du réseau national Syndromes Myasthéniques Congénitaux et al., Paris, France. In Rev Neurol (paris), 2013
The long-term prognosis of CMS was studied in a series of 79 patients recruited with the following gene mutations: CHRNA; CHRNE; DOK7; COLQ; RAPSN; AGRN; and MUSK.
Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.
GeneRIF
Engel et al., Rochester, United States. In J Clin Invest, 2012
V188 is functionally linked to Y190 in the C-loop and to D200 in beta-strand 10 of the acetylcholine receptor alpha subunit, which connects to the M1 transmembrane domain
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
Review
Chen, Taipei, Taiwan. In Taiwan J Obstet Gynecol, 2012
Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome, and the information acquired is helpful for genetic counseling and clinical management.
Congenital myasthenic syndrome: a brief review.
Review
Werneck et al., Curitiba, Brazil. In Pediatr Neurol, 2012
Therefore, genetic testing may be necessary to identify specific mutations in CHAT, COLQ, LAMB2, CHRNA, CHRNB, CHRND, CHRNE, CHRNG, RAPSN, DOK7, MUSK, AGRN, SCN4A, GFPT1, or PLEC1 genes.
Translational level of acetylcholine receptor α mRNA in mouse skeletal muscle is regulated by YB-1 in response to neural activity.
GeneRIF
Kobayashi et al., Funabashi, Japan. In Biochem Biophys Res Commun, 2011
These results suggest that in skeletal muscle cells, neural activity reduces the molar ratio of YB-1 relative to its binding AChR alpha mRNA, leading to an increase of ribosome binding to the mRNA, and thus activating translation.
In vivo knockdown of nicotinic acetylcholine receptor α1 diminishes aortic atherosclerosis.
GeneRIF
Tchao et al., Seattle, United States. In Atherosclerosis, 2011
The nAChRalpha1 gene plays a significant role at the artery wall, and reducing its expression decreases aortic plaque development.
Nicotinic acetylcholine receptor α1 promotes calpain-1 activation and macrophage inflammation in hypercholesterolemic nephropathy.
GeneRIF
Eddy et al., Seattle, United States. In Lab Invest, 2011
Studies suggest that the receptor nAChRalpha1 is an important regulator of calpain-1 activation and inflammation in the chronic hypercholesterolemic nephropathy.
Evaluation of the contribution of gyrA mutation and efflux pumps to fluoroquinolone and multidrug resistance in pathogenic Escherichia coli isolates from dogs and cats.
GeneRIF
Johnson et al., Auburn, United States. In Am J Vet Res, 2011
fluoroquinolone resistance appeared to be a stepwise phenomenon, with MIC increasing as point mutations in gyrA increased, but high-level- and multidrug resistance associated with fluoroquinolone resistance reflected overexpression of AcrAB efflux pump
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
Impact
GeneRIF
Garchon et al., Paris, France. In Nature, 2007
Here we describe a mechanism controlling thymic transcription of a prototypic tissue-restricted human auto-antigen gene, CHRNA1
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