| Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis. | Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis.
Chia R, Saez-Atienzar S, Drachman DB, Traynor BJ., Free PMC Article | 08/27/2022 |
| CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum. | CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Freed AS, Schwarz AC, Brei BK, Clowes Candadai SV, Thies J, Mah JK, Chabra S, Wang L, Innes AM, Bennett JT. | 08/7/2021 |
| Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe... | 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., Free PMC Article | 11/11/2017 |
| This study reports on the presence of the CHRNB1 at the cellular level in human skeletal muscle and placenta and that mRNA expression mirrors that of protein within cell types. | Cellular protein and mRNA expression of β1 nicotinic acetylcholine receptor (nAChR) subunit in brain, skeletal muscle and placenta.
Aishah A, Hinton T, Machaalani R. | 04/1/2017 |
| These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits. | Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
Rudell JC, Borges LS, Rudell JB, Beck KA, Ferns MJ., Free PMC Article | 03/22/2014 |
| Single nucleotide polymorphisms , rs55633891 (alpha9, C>T) and rs17856697 (beta1, A>G), did not exhibit a significant trend to be associated with cervical lesions. | Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia.
Calleja-Macias I, Osann K, Remedios-Chan M, Barrera-Saldana HA, Illades-Aguiar B, Anton-Culver H, Chikova AK, Grando SA, Bernard HU., Free PMC Article | 01/26/2013 |
| Extracellular beta1-beta2 and cysteine-loops bridge the pre-M1 transmembrane domain and M2-M3 linker to transduce agonist binding into channel gating. | Binding to gating transduction in nicotinic receptors: Cys-loop energetically couples to pre-M1 and M2-M3 regions.
Lee WY, Free CR, Sine SM., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (8) articlesResequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.
Wessel J, McDonald SM, Hinds DA, Stokowski RP, Javitz HS, Kennemer M, Krasnow R, Dirks W, Hardin J, Pitts SJ, Michel M, Jack L, Ballinger DG, McClure JB, Swan GE, Bergen AW. 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. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans.
Saccone NL, Schwantes-An TH, Wang JC, Grucza RA, Breslau N, Hatsukami D, Johnson EO, Rice JP, Goate AM, Bierut LJ. Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population.
Philibert RA, Todorov A, Andersen A, Hollenbeck N, Gunter T, Heath A, Madden P. 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. 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. No evidence for association between 19 cholinergic genes and bipolar disorder.
Shi J, Hattori E, Zou H, Badner JA, Christian SL, Gershon ES, Liu C. Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence.
Lou XY, Ma JZ, Payne TJ, Beuten J, Crew KM, Li MD, Lou XY, Ma JZ, Payne TJ, Beuten J, Crew KM, Li MD. | 03/13/2008 |
| No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence. | 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., Free PMC Article | 01/21/2010 |
| the beta1 subunit showed significantly increased expression in lung tumors as compared to non-tumor bronchial tissue | Nicotine activates cell-signaling pathways through muscle-type and neuronal nicotinic acetylcholine receptors in non-small cell lung cancer cells.
Carlisle DL, Liu X, Hopkins TM, Swick MC, Dhir R, Siegfried JM. | 01/21/2010 |
| Association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence. | Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence.
Lou XY, Ma JZ, Payne TJ, Beuten J, Crew KM, Li MD, Lou XY, Ma JZ, Payne TJ, Beuten J, Crew KM, Li MD. | 01/21/2010 |