| CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis. | CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis.
Lin JB, Kang MQ, Huang LP, Zhuo Y, Li X, Lai FC. | 10/30/2021 |
| Point Mutations of Nicotinic Receptor alpha1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia. | Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia.
Kudryavtsev D, Isaeva A, Barkova D, Spirova E, Mukhutdinova R, Kasheverov I, Tsetlin V., Free PMC Article | 04/13/2021 |
| Serum AChR alpha1 subunit protein concentrations were higher in patients with ant-AChR antibody-positive myasthenia gravis than those in controls. | Increased serum acetylcholine receptor α1 subunit protein in anti-acetylcholine receptor antibody-positive myasthenia gravis.
Uzawa A, Ozawa Y, Yasuda M, Oda F, Kojima Y, Kawaguchi N, Kanai T, Himuro K, Kuwabara S. | 07/11/2020 |
| In our analysis, we found one pair of SNPs in CHRNA1 and CHRNA7, plus one pair of SNPs in CHRNA2 and CHRNA3 reached corrected significance in tests for GxG interaction. Our study suggested evidence of interactions between CHRNs in controlling the risk of NSCL/P. | Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.
Wang M, Liu D, Schwender H, Wang H, Wang P, Zhou Z, Li J, Wu T, Zhu H, Beaty TH. | 12/22/2018 |
| Data suggest that the mutations made the cholinergic receptor nicotinic alpha 1 subunit channel (CHRNA1) resistant to the antagonists, not by impairing antagonist binding, but rather by producing a gain-of-function phenotype, e.g. increased agonist sensitivity. | High Throughput Random Mutagenesis and Single Molecule Real Time Sequencing of the Muscle Nicotinic Acetylcholine Receptor.
Groot-Kormelink PJ, Ferrand S, Kelley N, Bill A, Freuler F, Imbert PE, Marelli A, Gerwin N, Sivilotti LG, Miraglia L, Orth AP, Oakeley EJ, Schopfer U, Siehler S., Free PMC Article | 08/19/2017 |
| Study indicated that nicotinic acetylcholine receptor alpha 1-subunit peptides may act as receptor decoy molecules and inhibit the binding of virus to the native host cell receptors and hence may reduce viral infection. | Effect of nicotinic acetylcholine receptor alpha 1 (nAChRα1) peptides on rabies virus infection in neuronal cells.
Sajjanar B, Saxena S, Bisht D, Singh AK, Manjunatha Reddy GB, Singh R, Singh RP, Kumar S. | 02/18/2017 |
| ChRnA1 gene variants did not affect the pharmacodynamics of rocuronium. | Role of SLCO1B1, ABCB1, and CHRNA1 gene polymorphisms on the efficacy of rocuronium in Chinese patients.
Mei Y, Wang SY, Li Y, Yi SQ, Wang CY, Yang M, Duan KM. | 01/14/2017 |
| Cholesterol and CAV-1 modulate the function and dynamics of the slow channel congenital myasthenia syndrome alphaC418W nicotinic acetylcholine receptor mutation. | Lateral diffusion, function, and expression of the slow channel congenital myasthenia syndrome αC418W nicotinic receptor mutation with changes in lipid raft components.
Oyola-Cintrón J, Caballero-Rivera D, Ballester L, Baéz-Pagán CA, Martínez HL, Vélez-Arroyo KP, Quesada O, Lasalde-Dominicci JA., Free PMC Article | 02/6/2016 |
| nicotine contributes to the progression and erlotinib-resistance of the NSCLC xenograft model via the cooperation between nAChR and EGFR. | Nicotine induces resistance to erlotinib via cross-talk between α 1 nAChR and EGFR in the non-small cell lung cancer xenograft model.
Li H, Wang S, Takayama K, Harada T, Okamoto I, Iwama E, Fujii A, Ota K, Hidaka N, Kawano Y, Nakanishi Y. | 12/5/2015 |
| show that AON complementary to the 5' splice site of the exon was the most effective at exon skipping of the minigene with causative mutations, as well as endogenous wild-type CHRNA1 | Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes.
Tei S, Ishii HT, Mitsuhashi H, Ishiura S. | 08/22/2015 |
| The CHRNA1 extracellular domain is an improved protein for use in antigen-specific Myasthenia Gravis therapeutic strategies. | Expression of a highly antigenic and native-like folded extracellular domain of the human α1 subunit of muscle nicotinic acetylcholine receptor, suitable for use in antigen specific therapies for Myasthenia Gravis.
Niarchos A, Zouridakis M, Douris V, Georgostathi A, Kalamida D, Sotiriadis A, Poulas K, Iatrou K, Tzartos SJ., Free PMC Article | 10/18/2014 |
| HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. | HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.
Rahman MA, Masuda A, Ohe K, Ito M, Hutchinson DO, Mayeda A, Engel AG, Ohno K., Free PMC Article | 07/12/2014 |
| High expression of CHRNA1 is associated with lung adenocarcinoma after complete resection. | High expression of CHRNA1 is associated with reduced survival in early stage lung adenocarcinoma after complete resection.
Chang PM, Yeh YC, Chen TC, Wu YC, Lu PJ, Cheng HC, Lu HJ, Chen MH, Chou TY, Huang CY. | 04/19/2014 |
| No mutations were found in CHRNG, CHRND and CHRNA1 genes of Indian families with Escobar syndrome. | Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
Kodaganur SG, Tontanahal SJ, Sarda A, Shah MH, Bhat V, Kumar A. | 09/14/2013 |
| Findings identify a novel lung cancer risk locus on 2q31.1 which correlates with CHRNA1 expression and replicate previous associations on 15q25.1 in African-Americans. | Association study of nicotinic acetylcholine receptor genes identifies a novel lung cancer susceptibility locus near CHRNA1 in African-Americans.
Walsh KM, Amos CI, Wenzlaff AS, Gorlov IP, Sison JD, Wu X, Spitz MR, Hansen HM, Lu EY, Wei C, Zhang H, Chen W, Lloyd SM, Frazier ML, Bracci PM, Seldin MF, Wrensch MR, Schwartz AG, Wiencke JK., Free PMC Article | 08/31/2013 |
| 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 | Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.
Shen XM, Brengman JM, Sine SM, Engel AG., Free PMC Article | 09/15/2012 |
| Studies suggest that the receptor nAChRalpha1 is an important regulator of calpain-1 activation and inflammation in the chronic hypercholesterolemic nephropathy. | Nicotinic acetylcholine receptor α1 promotes calpain-1 activation and macrophage inflammation in hypercholesterolemic nephropathy.
Zhang G, Thomas AL, Marshall AL, Kernan KA, Su Y, Zheng Y, Takano J, Saido TC, Eddy AA., Free PMC Article | 02/5/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| Presence of heterogeneous nuclear ribonucleoprotein H-binding motif in CHRNA1 close to the 3' end of an intron is an essential but underestimated splicing regulator of the downstream exon. | hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.
Masuda A, Shen XM, Ito M, Matsuura T, Engel AG, Ohno K., Free PMC Article | 01/21/2010 |
| study reports homozygous nonsense mutations in CHRNA1 and CHRND and shows that they were lethal | Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (9) articlesA 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. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Association of CHRN genes with "dizziness" to tobacco.
Ehringer MA, McQueen MB, Hoft NR, Saccone NL, Stitzel JA, Wang JC, 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. Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine.
Le Marchand L, Derby KS, Murphy SE, Hecht SS, Hatsukami D, Carmella SG, Tiirikainen M, Wang H. 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. 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. | 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 |
| Here we describe a mechanism controlling thymic transcription of a prototypic tissue-restricted human auto-antigen gene, CHRNA1 | An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
Giraud M, Taubert R, Vandiedonck C, Ke X, Lévi-Strauss M, Pagani F, Baralle FE, Eymard B, Tranchant C, Gajdos P, Vincent A, Willcox N, Beeson D, Kyewski B, Garchon HJ. | 01/21/2010 |