Genomes and Genes
Gene Symbol: CHRNA1
Description: cholinergic receptor nicotinic alpha 1 subunit
Alias: ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS, acetylcholine receptor subunit alpha, acetylcholine receptor, nicotinic, alpha 1 (muscle), cholinergic receptor, nicotinic alpha 1, cholinergic receptor, nicotinic, alpha 1 (muscle), cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle), muscle nicotinic acetylcholine receptor, nicotinic acetylcholine receptor alpha subunit, nicotinic cholinergic receptor alpha 1
Publications125 found, 100 shown here
- Alpha and beta subunits of acetylcholine receptors in the human inner earR Popa
Department of Otolaryngology and Head Neck Surgery, Uppsala University Hospital Akademiska sjukhuset, Uppsala, Sweden
Acta Otolaryngol 120:484-9. 2000..Both alpha and beta subunits were identified on spiral ganglion cells, adjacent nerve fibres and in vestibular hair cells (HCs). It would appear that they form an active complex in n-ACh-r at these locations...
- Genetics of autoimmune myasthenia gravis, a model for antibody-mediated autoimmunity in manHenri Jean Garchon
INSERM U580, 161 rue de Sevres, 75743 Paris Cedex 15, France
J Autoimmun 21:105-10. 2003..Recent genetic analyses focusing on a nonclass II HLA-linked locus, MYAS1, and on one of the genes encoding the AChR self-antigen, CHRNA1, are discussed.
- The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exonD Beeson
Department of Clinical Neurology, University of Oxford, UK
EMBO J 9:2101-6. 1990..coli. No evidence of a sequence related to that of the new exon was found in cDNA derived from poly(A)+ RNA isolated from fetal calf or embryonic chick muscle or Torpedo marmorata electric organ...
- Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptorH J Kreienkamp
Department of Pharmacology, La Jolla 92093
Neuron 14:635-44. 1995..The conserved residues I145 and T150 of the gamma subunit promote alpha gamma alpha gamma tetramer formation, whereas the corresponding residues in the delta subunit, K145 and K150, allow only alpha delta dimer formation...
- New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndromeA G Engel
Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
Hum Mol Genet 5:1217-27. 1996..The safety margin of neuromuscular transmission is compromised by AChR loss from the junctional folds and by a depolarization block owing to temporal summation of prolonged end plate potentials at physiologic rates of stimulation...
- Expression of soluble ligand- and antibody-binding extracellular domain of human muscle acetylcholine receptor alpha subunit in yeast Pichia pastoris. Role of glycosylation in alpha-bungarotoxin bindingLoukia Psaridi-Linardaki
Department of Biochemistry, Hellenic Pasteur Institute, 127 Vas Sofias Avenue, 11521 Athens, Greece
J Biol Chem 277:26980-6. 2002..extracellular domain (amino acids 1-210; halpha-(1-210)) of the alpha subunit of the human muscle nicotinic acetylcholine receptor (AChR), bearing the binding sites for cholinergic ligands and the main immunogenic region, the ..
- hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromeAkio Masuda
Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
Hum Mol Genet 17:4022-35. 2008In humans and great apes, CHRNA1 encoding the muscle nicotinic acetylcholine receptor alpha subunit carries an inframe exon P3A, the inclusion of which yields a nonfunctional alpha subunit...
- Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genesNancy L Saccone
Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA
Am J Med Genet B Neuropsychiatr Genet 150:453-66. 2009....
- Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndromeYang Bian
Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
Hum Mol Genet 18:1229-37. 2009..reported that the intronic splice-site mutation IVS3-8G>A of CHRNA1 that encodes the muscle nicotinic acetylcholine receptor alpha subunit disrupts binding of a splicing repressor, hnRNP H...
- B cells from p50/NF-kappa B knockout mice have selective defects in proliferation, differentiation, germ-line CH transcription, and Ig class switchingC M Snapper
Department of Pathology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
J Immunol 156:183-91. 1996..p50/NF-kappa B knockout (p50-/-) mice to determine their ability to proliferate, secrete Ig, express germ-line CHRNA, and undergo Ig isotype switching in vitro in response to a number of distinct stimuli...
- Genetic factors in autoimmune myasthenia gravisMatthieu Giraud
Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts, USA
Ann N Y Acad Sci 1132:180-92. 2008..new clues to the pathogenesis of MG, as recently illustrated by the study of a promoter polymorphism of the CHRNA1 locus, influencing its thymic expression and central tolerance, or of a coding variant of the PTPN22 intracellular ..
- Expression and renaturation of the N-terminal extracellular domain of torpedo nicotinic acetylcholine receptor alpha-subunitA Schrattenholz
Laboratory of Molecular Neurobiology, Institute of Physiological Chemistry and Pathobiochemistry, 6 Duesbergweg, Johannes Gutenberg University Medical School, 55099 Mainz, Germany
J Biol Chem 273:32393-9. 1998..12 microM. The results demonstrate that the N-terminal extracellular region of the nAChR alpha-subunit forms a self-assembling domain that functionally expresses major elements of the ligand binding sites of the receptor...
- Treatment of slow-channel congenital myasthenic syndrome with fluoxetineC Michel Harper
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neurology 60:1710-3. 2003..and nearly normalizes at 10 microM/L the prolonged opening bursts of slow-channel congenital myasthenic syndrome (SCCMS) acetylcholine receptors (AChR) expressed in fibroblasts...
- A twin association study of nicotine dependence with markers in the CHRNA3 and CHRNA5 genesHermine H Maes
Department of Human and Molecular Genetics, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, P O Box 980003, Richmond, VA 23298 0003, USA
Behav Genet 41:680-90. 2011..This study confirmed a significant contribution of the CHRNA receptor on different forms of tobacco dependence...
- Congenital myasthenic syndrome: a brief reviewPaulo José Lorenzoni
Neuromuscular Disorders Unit, Division of Neurology, Department of Internal Medicine, Hospital de Clinicas da Universidade Federal do Parana, Curitiba, PR, Brazil
Pediatr Neurol 46:141-8. 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...
- Combining multiple laser scans of spotted microarrays by means of a two-way ANOVA modelJérôme Ambroise
Information and Communication Technologies, Electronics and Applied Mathematics, Universite Catholique de Louvain
Stat Appl Genet Mol Biol 11:Article 8. 2012..Most algorithms that combine data acquired at different voltages of the photomultiplier tube (PMT) assume that a change in scanner setting transforms the intensity measurements by a multiplicative constant...
- 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 GravisAthanasios Niarchos
Department of Pharmacy, University of Patras, Patras, Greece
PLoS ONE 8:e84791. 2013..Our results indicate that i-α1-ECD is an improved protein for use in antigen-specific MG therapeutic strategies. ..
- A DRD1 polymorphism predisposes to lung cancer among those exposed to secondhand smoke during childhoodAna I Robles
Laboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland
Cancer Prev Res (Phila) 7:1210-8. 2014..b>CHRNA, CHRNB gene families, CYP2A6, and DRD1 (dopamine receptor D1) were mined for SNPs that fell within the seed region ..
- Lateral diffusion, function, and expression of the slow channel congenital myasthenia syndrome αC418W nicotinic receptor mutation with changes in lipid raft componentsJessica Oyola-Cintrón
From the Departments of Chemistry
J Biol Chem 290:26790-800. 2015..The current work suggests that the interplay between cholesterol and CAV-1 provides the molecular basis for modulating the function and dynamics of the cholesterol-sensitive αC418W nAChR. ..
- Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformationsCheng Yuan Mao
a 1 Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China
Int J Neurosci 126:1071-6. 2016..Previous studies of familial CCMs (FCCMs) have mainly reported in Hispanic and Caucasian cases...
- Pathways to smoking behaviours: biological insights from the Tobacco and Genetics Consortium meta-analysisC C Minică
Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands
Mol Psychiatry 22:82-88. 2017..to the Neuronal system pathways, harbouring the nicotinic acetylcholine receptor genes expressing the α (CHRNA 1-9), β (CHRNB 1-4), γ, δ and ɛ subunits, yielded the smallest P-values in the pathway analysis of the ..
- Gene Polymorphisms for Both Auto-antigen and Immune-Modulating Proteins Are Associated with the Susceptibility of Autoimmune Myasthenia GravisHai Feng Li
Department of Neurology, Qilu Hospital of Shandong University, Jinan, 250012, China
Mol Neurobiol . 2016..Eighteen SNPs were selected from genes of cholinergic receptor nicotinic alpha 1 (CHRNA1), autoimmune regulator (AIRE), cytotoxic T lymphocyte-associated protein 4 (CTLA-4), protein tyrosine phosphatase ..
- A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous MalformationWen qing Huang
Translational Medicine Research Center, School of Pharmaceutical Sciences, Xiamen UniversityXiamen, China Key Laboratory for Cancer T Cell Theranostics and Clinical TranslationXiamen, China
Front Aging Neurosci 8:220. 2016..Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms...
- Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junctionKinji Ohno
Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
J Neurochem . 2017..of genes for agrin (AGRN), acetylcholinesterase (ACHE), MuSK (MUSK), acetylcholine receptor (AChR) α1 subunit (CHRNA1), and collagen Q (COLQ) in human, and their aberration in diseases...
- ALS and SAD-like nicotinic acetylcholine receptor subunit genes are widely distributed in insectsF Sgard
Zeneca Agrochemicals, Bracknell, Berkshire
Insect Mol Biol 2:215-23. 1993Segments of nicotinic acetylcholine receptor alpha subunit genes have been isolated from a panel of insect species by polymerase chain reaction, using degenerate oligonucleotide primers designed to recognize conserved regions of the ..
- Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding propertiesMarios Zouridakis
Department of Biochemistry, Hellenic Pasteur Institute, 127, GR11521, Athens, Greece
Biochim Biophys Acta 1794:355-66. 2009....
- The effect of memantine and levodopa/carbidopa on the responses of phrenic nerve-diaphragm preparations from aged ratsSoha Ali El-Moursy
Department of Clinical Pharmacology, Faculty of Medicine, Cairo University, Cairo, Egypt
Med Sci Monit 15:BR339-48. 2009..This study focuses on the influence of memantine (used in moderate to severe AD) and levodopa/carbidopa (LD/CD) (a cornerstone of Parkinson's disease treatment) on responses of isolated phrenic nerve-diaphragms (IPNDs) of aged male rats...
- Prognostic factors for the outcome of surgical and conservative treatment of symptomatic spinal cord cavernous malformations: a review of a series of 20 patientsHans Jakob Steiger
Department of Neurosurgery, University Hospital, Heinrich Heine University, Dusseldorf, Germany
Neurosurg Focus 29:E13. 2010In this study, the authors present a review of a series of 20 intramedullary spinal cord cavernous malformations (SCCMs) with particular focus on MR imaging and prognostic factors.
- Gene expression profiling of rat fetuses exposed to 2-dimensional ultrasoundZvonko Hocevar
University Medical Center Ljubljana, Ljubljana, Slovenia
J Ultrasound Med 31:923-32. 2012..This study evaluated the possible effects of ultrasound (US) on gene expression in brain tissue of rat embryos...
- Pregnancy in congenital myasthenic syndromeL Servais
Service of therapeutic trials and databases, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
J Neurol 260:815-9. 2013..We report on 17 pregnancies in eight patients with CMS with mutations in CHRNA1, CHRNE, CHRND, GFPT1, COLQ, or DOK7...
- High expression of CHRNA1 is associated with reduced survival in early stage lung adenocarcinoma after complete resectionPeter Mu Hsin Chang
Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan
Ann Surg Oncol 20:3648-54. 2013..Several pathologic biomarkers are associated with recurrence in early stage lung cancer after complete resection...
- Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotypeGabriel Skogberg
Department of Rheumatology and Inflammation Research, Institute of Medicine, University of Gothenburg, 405 30 Gothenburg, Sweden
J Immunol 193:2187-95. 2014..in thymic tissue from DS patients, and trends toward increased expression of the AIRE-controlled genes INSULIN and CHRNA1 were found...
- Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigensMireia Gimenez-Barcons
Divisió d Immunologia, Hospital Universitari Vall d Hebron, Vall d Hebron Institut de Recerca, Barcelona 08035, Spain
J Immunol 193:3872-9. 2014..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...
- Inherited disorders of the neuromuscular junction: an updatePedro M Rodríguez Cruz
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK
J Neurol 261:2234-43. 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...
- Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
Eur J Hum Genet 23:1151-7. 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 SyndromesShoin Tei
Department of Life Science, Graduate School of Arts and Sciences, The University of Tokyo, 3 8 1 Komaba, Meguro ku, Tokyo, Japan
Biochem Biophys Res Commun 461:481-6. 2015b>CHRNA1 encodes the α subunit of nicotinic acetylcholine receptors (nAChRs) and is expressed at the neuromuscular junction. Moreover, it is one of the causative genes of Congenital Myasthenic Syndromes (CMS)...
- Loss of neurogenesis in Hydra leads to compensatory regulation of neurogenic and neurotransmission genes in epithelial cellsY Wenger
Department of Genetics and Evolution, Institute of Genetics and Genomics in Geneva iGE3, Faculty of Sciences, University of Geneva, 30 Quai Ernest Ansermet, CH 1211 Geneva 4, Switzerland
Philos Trans R Soc Lond B Biol Sci 371:20150040. 2016..Arminins, PW peptide), neurosignalling components (CAMK1D, DDCl2, Inx1), ligand-ion channel receptors (CHRNA1, NaC7), G-Protein Coupled Receptors and FMRFRL...
- Effect of nicotinic acetylcholine receptor alpha 1 (nAChRα1) peptides on rabies virus infection in neuronal cellsBasavaraj Sajjanar
Division of Veterinary Biotechnology, Indian Veterinary Research Institute, Bareilly 243122, Uttar Pradesh, India
Neuropeptides 57:59-64. 2016..The results of the study indicated that nAChRα1-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. ..
- Evidence for Association Between Low Frequency Variants in CHRNA6/CHRNB3 and Antisocial Drug DependenceHelen M Kamens
Department of Biobehavioral Health, Pennsylvania State University, University Park, PA, USA
Behav Genet 46:693-704. 2016..The capture, sequencing, and analysis of all variants in 16 CHRN genes (CHRNA1-7, 9, 10, CHRNB1-4, CHRND, CHRNG, CHRNE) were performed independently for each subject in each sample...
- Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndromeAriana Kariminejad
Kariminejad Najmabadi Pathology and Genetics Centre, Tehran, Iran
BMC Genet 17:71. 2016..nicotinergic acetylcholine receptor (AChR) is a transmembrane protein with five different subunits, coded by CHRNA1, CHRNB, CHRND and CHRNG/CHRNE...
- Nucleotide sequence of the mouse muscle nicotinic acetylcholine receptor alpha subunitK E Isenberg
Nucleic Acids Res 14:5111. 1986
- The Caenorhabditis elegans lev-8 gene encodes a novel type of nicotinic acetylcholine receptor alpha subunitPaula R Towers
MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford, UK
J Neurochem 93:1-9. 2005..Thus, LEV-8 is a levamisole receptor subunit and exhibits the most diverse expression pattern of any invertebrate nAChR subunit studied to date...
- Integrative gene network analysis provides novel regulatory relationships, genetic contributions and susceptible targets in autism spectrum disordersTin Lap Lee
Laboratory of Clinical and Developmental Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Gene 496:88-96. 2012..Functional analysis identified neurological functions including synaptic cholinergic receptor (CHRNA) families, dopamine receptor (DRD2), and correlations between social behavior and oxytocin related pathways...
- Transgenic mouse model reveals an unsuspected role of the acetylcholine receptor in statin-induced neuromuscular adverse drug reactionsG E Grajales-Reyes
Department of Biology, University of Puerto Rico, Rio Piedras Campus, San Juan, PR, USA
Pharmacogenomics J 13:362-8. 2013..the mutant allele of the rs137852808 SNP in the nicotinic acetylcholine receptor (nAChR) α-subunit gene CHRNA1. Mice expressing this allele show a remarkable contamination of end-plates with caveolin-1 and develop early signs ..
- Genetic association analysis of complex diseases incorporating intermediate phenotype informationYafang Li
Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America
PLoS ONE 7:e46612. 2012..1, which has been replicated in many other studies. Our results confirm that this CHRNA region is associated with both lung cancer development and smoking behavior...
- Isolation of a cDNA clone coding for a possible neural nicotinic acetylcholine receptor alpha-subunitJ Boulter
Nature 319:368-74. 1986..DNA clone containing sequences homologous to those encoding the alpha-subunit of a mouse muscle nicotinic acetylcholine receptor. Based on the structural similarities between the encoded protein and the muscle acetylcholine ..
- Yeast expression and NMR analysis of the extracellular domain of muscle nicotinic acetylcholine receptor alpha subunitYun Yao
Department of Neurobiology, University of Pittsburgh School of Medicine, 3500 Terrace Street, Pittsburgh, PA 15261, USA
J Biol Chem 277:12613-21. 2002..We conclude that the soluble AChR protein is useful for high resolution structural studies...
- Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in childrenTale M Torjussen
National Centre for Epilepsy, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway
Pediatr Allergy Immunol 23:40-9. 2012The CHRNA 3 and 5 genes on chromosome 15 encode the alpha subunits of the nicotinic acetylcholine receptor, mediating airway cholinergic activity...
- Nicotinic acetylcholine receptor variants associated with susceptibility to chronic obstructive pulmonary disease: a meta-analysisJing Zhang
Department of Pulmonary Medicine, Zhongshan Hospital, Shanghai Medical College, Fudan University, Shanghai 200032, China
Respir Res 12:158. 2011..Recent studies suggested an association between COPD and polymorphisms in CHRNA coding subunits of nicotinic acetylcholine receptor...
- Agrin induces association of Chrna1 mRNA and nicotinic acetylcholine receptor in C2C12 myotubesYung Fu Chang
Department of Biomedical Science and Environmental Biology, Kaohsiung Medical University, Kaohsiung City 807, Taiwan
FEBS Lett 586:3111-6. 2012..RT-PCR showed that Chrna1 was co-purified with nicotinic acetylcholine receptor (AChR) isolated by affinity column or by ultracentrifugation...
- A functional polymorphism in the CHRNA3 gene and risk of chronic obstructive pulmonary disease in a Korean populationJae Yeon Lee
Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea
J Korean Med Sci 27:1536-40. 2012..The rs6495309C > T polymorphism in the promoter of nicotinic acetylcholine receptor alpha subunit 3 (CHRNA3) gene was investigated in a case-control study that consisted of 406 patients with ..
- Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndromeSrinivas G Kodaganur
Department of Pediatrics, Bangalore Medical College and Research Institute, Bangalore, India
Clin Dysmorphol 22:54-8. 2013..junctions of the ES gene CHRNG (cholinergic receptor, nicotinic, gamma), and two other related genes, CHRND and CHRNA1, were amplified and sequenced to search for mutations in both families. Both families show a typical form of ES...
- [Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]B Eymard
Centre de référence des affections neuromusculaires Paris Est, Service de neurologie 2, Institut de Myologie, Hopital de la Pitie Salpetriere, 47 bd de l Hopital, 75013 Paris, France
Rev Neurol (Paris) 169:S45-55. 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...
- HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNAMohammad Alinoor Rahman
Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan
Sci Rep 3:2931. 2013CHRNA1 gene, encoding the muscle nicotinic acetylcholine receptor alpha subunit, harbors an inframe exon P3A. Inclusion of exon P3A disables assembly of the acetylcholine receptor subunits...
- Angioleiomyomas of the dura: rare entities that lack KRIT1 mutationsTracy Marrs Conner
The University of Colorado Medical School, University of Colorado at Denver, Aurora, CO 80045, USA
Am J Surg Pathol 36:526-33. 2012..Colorado with a known high incidence of a Hispanic population at risk for familial cavernous cerebral hemangiomas (fCCMs)...
- Bone marrow-derived mesenchymal stem cells up-regulate acetylcholine receptor delta subunit through NRG/ErbB3-mediated mitogen-activated protein kinase pathwayLi Chen
Department of Hand Surgery, Huashan Hospital, Fudan University, Shanghai 200040, China
Clin Transl Sci 5:27-31. 2012..of bone marrow-derived mesenchymal stem cells (BMSCs) on the expression of acetylcholine receptor delta subunit (AChRd), the murine skeletal muscle cell line Sol8 were grown in DMEM with 20% fetal bovine serum added with (conditional ..
- CHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in PolandMegan Hardin
Channing Laboratory, Brigham and Women s Hospital, Boston, MA 02115, USA
Am J Respir Cell Mol Biol 47:203-8. 2012..We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples:..
- Association study of nicotinic acetylcholine receptor genes identifies a novel lung cancer susceptibility locus near CHRNA1 in African-AmericansKyle M Walsh
Department of Epidemiology and Biostatistics, University of California, San Francisco, CA, USA
Oncotarget 3:1428-38. 2012..cancer at a strict Bonferroni-corrected level, including a novel association on chromosome 2 near the promoter of CHRNA1 (rs3755486: OR = 1.40, 95% CI = 1.18-1.67, P = 1.0 x 10-4)...
- Binding of HIV-1 gp120 to the nicotinic receptorL Bracci
Department of Molecular Biology, University of Siena, Italy
FEBS Lett 311:115-8. 1992..Here we report findings about the existence of a mechanism of functional molecular mimicry which could enable the binding of HIV-1 gp120 to nicotinic acetylcholine receptors in muscle cells and neurons...
- Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptorX M Yu
Department of Physiology, School of Medicine, University of California, San Francisco 94143 0444
Nature 352:64-7. 1991..The epsilon beta chimera can substitute for the epsilon but not the beta subunit in the oligomeric receptor, indicating that the alpha subunit specifically recognizes an extracellular domain of the epsilon subunit...
- The MyoD family of myogenic factors is regulated by electrical activity: isolation and characterization of a mouse Myf-5 cDNAA Buonanno
Unit on Molecular Neurobiology, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892
Nucleic Acids Res 20:539-44. 1992..The accumulation of these three mRNAs precedes the increase of nicotinic acetylcholine receptor alpha subunit transcripts, a gene that is transcriptionally regulated by MyoD-related factors in vitro...
- Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17D Beeson
Institute for Molecular Medicine, John Radcliffe Hospital, Oxford
Ann Hum Genet 54:199-208. 1990..The results localize CHRNA to 2q24-2q32. CHRNB to 17p11-17p12, and CHRND to chromosome 2q33-2qter.
- Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravisR Hohlfeld
Department of Neurology, University of Duesseldorf, Federal Republic of Germany
J Clin Invest 81:657-60. 1988..These results suggest that the NH2-terminal region of the AChR alpha chain contains T cell-stimulating epitopes, and that the T cell autoimmune response in myasthenia gravis, like the B cell response, is heterogeneous...
- The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNAR Schoepfer
Salk Institute for Biological Studies, San Diego, CA 92138
FEBS Lett 226:235-40. 1988..The isolated cDNA clones should prove useful for expression of large amounts of human muscle-type AChR alpha-subunit protein for studies of the autoimmune response to muscle AChRs in human myasthenia gravis...
- The slow channel syndrome. Two new casesH J Oosterhuis
Department of Neurology, Academic Hospital, Groningen, The Netherlands
Brain 110:1061-79. 1987..Calcium deposits were not observed and myopathic changes were slight. The findings are consistent with a prolonged open time of the ACh-induced ion channel...
- Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five casesA Vincent
Muscle Nerve 4:306-18. 1981..We conclude that congenital myasthenia is a heterogeneous condition of nonimmune etiology in which both presynaptic and postsynaptic defects can be found...
- [Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests]G Chauplannaz
Service d Electromyographie, Hôpital Neurologique et Université Claude Bernard, Lyon
Rev Neurol (Paris) 150:142-8. 1994..As 2 of these patients were considered to have "unknown myopathy" the use of careful nerve stimulation tests is advocated in such cases...
- Human nicotinic acetylcholine receptor alpha-subunit isoforms: origins and expressionC Maclennan
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
Nucleic Acids Res 21:5463-7. 1993..in the disease myasthenia gravis (MG) are directed against the alpha-subunit of the muscle nicotinic acetylcholine receptor (AChR)...
- Chromosomal localization of the mouse titin gene and its relation to "muscular dystrophy with myositis" and nebulin genes on chromosome 2M Müller-Seitz
Developmental Biology Unit, University of Bielefeld, Federal Republic of Germany
Genomics 18:559-61. 1993..musculus wildtype. No variants have been found with 11 restriction nucleases. Our data corroborate a conserved synteny comprising genes NEB, TTN, CHRNA1 on human Chr 2q.
- Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivoZ Z Wang
Department of Physiology, University of California, San Francisco, California 94143, USA
J Biol Chem 271:27575-84. 1996..These results show that a complete M1 domain is necessary for association of truncated N-terminal alpha and delta subunits into a heterodimer with high affinity ligand binding activity...
- Neuronal nicotinic receptor alpha 6 subunit mRNA is selectively concentrated in catecholaminergic nuclei of the rat brainN Le Novère
CNRS URA 1284, Pasteur Institute, Paris, France
Eur J Neurosci 8:2428-39. 1996..The present results show that alpha 6 is the major nicotinic acetylcholine receptor alpha subunit expressed in dopaminergic cell groups of the mesencephalon and noradrenergic cells of the ..
- Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndromeR Croxen
Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
Hum Mol Genet 6:767-74. 1997..A subset of these disorders, the slow-channel congenital myasthenic syndrome (SCCMS), is dominantly inherited and has been shown to involve mutations within the muscle acetylcholine receptor (AChR)...
- Quinidine sulfate therapy for the slow-channel congenital myasthenic syndromeC M Harper
Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
Ann Neurol 43:480-4. 1998The slow-channel congenital myasthenic syndrome (SCCMS) is caused by gain of function mutations in subunits of the end-plate acetylcholine receptor (AChR)...
- Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gatingH L Wang
Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
Nat Neurosci 2:226-33. 1999..Thus, we demonstrate a functional role for the M3 domain as a key component of the nicotinic acetylcholine receptor channel-gating mechanism...
- Molecular cloning of the canine nicotinic acetylcholine receptor alpha-subunit gene and development of the ELISA method to diagnose myasthenia gravisT Yoshioka
Department of Veterinary Internal Medicine, Obihiro University of Agriculture and Veterinary Medicine, Hokkaido, Japan
Vet Immunol Immunopathol 72:315-24. 1999..Further examinations of the ELISA using a large number of samples of clinically MG-positive and MG-negative dogs are needed to establish its usefulness in MG diagnosis...
- Laminin and alpha7beta1 integrin regulate agrin-induced clustering of acetylcholine receptorsD J Burkin
Department of Cell and Structural Biology, University of Illinois, Urbana, IL 61801, USA
J Cell Sci 113:2877-86. 2000....
- Examination of genetic linkage of chromosome 15 to schizophrenia in a large Veterans Affairs Cooperative Study sampleD W Tsuang
Veterans Affairs Puget Sound Health Care System, Mental Illness, Research, Education and Clinical Center, Seattle, Washington 98108, USA
Am J Med Genet 105:662-8. 2001..65 between markers D15S165 and D15S1010. These markers are within 1 cM from CHRNA-7, the site previously implicated in schizophrenia...
- Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromesR Croxen
Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
Neurology 59:162-8. 2002Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance...
- Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndromeChristopher M Gomez
Department of Neurology, University of Minnesota, Minneapolis, Minnesota 55455, USA
J Neurosci 22:6447-57. 2002..in some hereditary epilepsies, in familial hyperekplexia, and the slow-channel congenital myasthenic syndrome (SCCMS) may perturb the kinetics of synaptic currents, leading to significant clinical consequences...
- Identification and localization of the nicotinic acetylcholine receptor alpha3 mRNA in the brain of the honeybee, Apis melliferaS H Thany
Laboratoire de Neurobiologie de l Insecte E A 3037, Toulouse France
Insect Mol Biol 12:255-62. 2003..have identified a honeybee cDNA that encodes a 537 amino acid protein with features typical of nicotinic acetylcholine receptor alpha subunit, and sequence homology to human alpha3...
- Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interferenceAmr Abdelgany
Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, UK
Hum Mol Genet 12:2637-44. 2003Slow channel congenital myasthenic syndrome (SCCMS) is a disorder of the neuromuscular synapse caused by dominantly inherited missense mutations in genes that encode the muscle acetylcholine receptor (AChR) subunits...
- Mechanistic diversity underlying fast channel congenital myasthenic syndromesSteven M Sine
Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Medical School, Rochester, Minnesota 55905, USA
Ann N Y Acad Sci 998:128-37. 2003..Although both have similar phenotypic consequences, they are physiologic opposites. Expression of the FCCMS phenotype requires the missense mutation to be accompanied by a second mutation, either a null or a missense ..
- Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndromeR Webster
Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
Neurology 62:1090-6. 2004....
- Increased neuromuscular activity causes axonal defects and muscular degenerationJulie L Lefebvre
Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6058, USA
Development 131:2605-18. 2004..a novel, dominant gain-of-function mutation in the muscle-specific nicotinic acetylcholine receptor alpha-subunit, CHRNA1. Moreover, electrophysiological analysis demonstrates that the mutant subunit increases synaptic decay times, ..
- A novel permutation testing method implicates sixteen nicotinic acetylcholine receptor genes as risk factors for smoking in schizophrenia familiesStephen V Faraone
Department of Psychiatry at Massachusetts General Hospital, Harvard Medical School, 37 Shields Avenue, Boston, MA 02301, USA
Hum Hered 57:59-68. 2004..044) and (CHRNB2, p = 0.015) and two genes were marginally significant (CHRNA7, p = 0.095; CHRNA1, p = 0.076)...
- The Caenorhabditis elegans unc-63 gene encodes a levamisole-sensitive nicotinic acetylcholine receptor alpha subunitEmmanuel Culetto
Medical Research Council Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom
J Biol Chem 279:42476-83. 2004..Thus, at least four subunits, two alpha types (UNC-38 and UNC-63) and two non-alpha types (UNC-29 and LEV-1), can contribute to levamisole-sensitive muscle nAChRs in nematodes...
- Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assaySoledad Gallego
Pediatric Oncology Unit, Hospital Universitari Vall d Hebron, Barcelona, Spain
J Cancer Res Clin Oncol 132:356-62. 2006..To assess if molecular detection of minimal disseminated disease by real-time reverse transcription and polymerase chain reaction (RT-PCR) could contribute to a better treatment stratification in patients with rhabdomyosarcoma (RMS)...
- Role of pairwise interactions between M1 and M2 domains of the nicotinic receptor in channel gatingJeremías Corradi
Instituto de Investigaciones Bioquimicas, Universidad Nacional del Sur CONICET, Bahia Blanca, Argentina
Biophys J 92:76-86. 2007..Double-mutant cycle analysis shows that these residues are energetically coupled. Thus, the interaction between M1 and M2 plays a key role in channel gating...
- A central role for nicotinic cholinergic regulation of growth factor-induced endothelial cell migrationMartin K C Ng
Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
Arterioscler Thromb Vasc Biol 27:106-12. 2007..To date, the mechanisms of nAChR-mediated angiogenesis and their relationship to angiogenic factors, eg, VEGF and bFGF, are unknown...
- No evidence for association between 19 cholinergic genes and bipolar disorderJiajun Shi
Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA
Am J Med Genet B Neuropsychiatr Genet 144:715-23. 2007..We genotyped 93 single nucleotide polymorphisms (SNPs) in 19 genes (CHAT, CHRM1-5, CHRNA1-7, CHRNA9, CHRNA10, and CHRNB1-4) in two series of samples: the National Institute of Mental Health (NIMH) ..
- Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomasS Scarpino
Dip di Istopatologia ed Anatomia Patologica, Ospedale Sant Andrea, II Facolta di Medicina e Chirurgia, Universita La Sapienza, Rome, Italy
Clin Exp Immunol 149:504-12. 2007..No significant difference was found in the two groups (thymoma MG(+), CHRNA1 = 0.013 +/- 0.03; thymoma MG-, CHRNA1 = 0.01 +/- 0.03)...
- An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymusMatthieu Giraud
INSERM, U580, 75015 Paris, France
Nature 448:934-7. 2007..describe a mechanism controlling thymic transcription of a prototypic tissue-restricted human auto-antigen gene, CHRNA1. This gene encodes the alpha-subunit of the muscle acetylcholine receptor, which is the main target of pathogenic ..
- Analysis and mapping of CACNB4, CHRNA1, KCNJ3, SCN2A and SPG4, physiological candidate genes for porcine congenital progressive ataxia and spastic paresisS Genini
Parco Tecnologico Padano, CERSA, Via Einstein, Lodi, Italy
J Anim Breed Genet 124:269-76. 2007..We mapped porcine CACNB4, KCNJ3, SCN2A and CHRNA1 to SSC15 and SPG4 to SSC3 with the INRA-Minnesota porcine radiation hybrid panel (IMpRH) and we sequenced the ..
- The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcriptional regulation by ATOH1 and co-expression with the γ subunit in hair cellsDeborah Scheffer
INSERM, Equipe Avenir, Unite 841, Creteil, France
J Neurochem 103:2651-64. 2007..In this study, we identify two novel nAChR subunits in the inner ear: α1 and γ, encoded by Chrna1 and Chrng, respectively...
- Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patientsJulie Vogt
Department of Medical and Molecular Genetics and WellChild Paediatric Research Centre, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK
Am J Hum Genet 82:222-7. 2008..phenotype and so we analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes...
- Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disordersAnne Michalk
Institute for Medical Genetics, Charite University Medicine, Augustenburger Platz 1, D 13353 Berlin, Germany
Am J Hum Genet 82:464-76. 2008..Other AChR subunits alpha1, beta1, and delta (CHRNA1, CHRNB1, CHRND) as well as receptor-associated protein of the synapse (RAPSN) previously revealed missense or ..
- Reverse transcription-polymerase chain reaction on a microarray: the integrating concept of "active arrays"Markus von Nickisch-Rosenegk
Fraunhofer Institute for Biomedical Engineering IBMT, Branch Potsdam, Department Nanobiotechnology and Nanomedicine, Am Muhlenberg 13, 14476, Potsdam Golm, Germany
Anal Bioanal Chem 391:1671-8. 2008..The specific cDNA templates of genes coding for subunits of the mouse muscle acetylcholine receptor (Chrna1, Chrnb1, Chrnd) and the genes coding for myogenin (Myog), muscle creatine kinase (Ckmm), and ATPase (Atp2a2) were ..
- Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart StudyPatrick F McArdle
Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA
BMC Med Genet 9:67. 2008..We assessed the role of genetic variation in three subunits of the neuromuscular nicotinic acetylcholine receptor positioned on chromosome 2q, a region showing replicated evidence of linkage to blood pressure...
- Congenital myasthenic syndromes in childhood: diagnostic and management challengesM Kinali
The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and Institute of Child Health, University College, London, UK
J Neuroimmunol 201:6-12. 2008..Mutations have been identified so far in 32/46 children: 10 RAPSN, 7 COLQ, 6 CHRNE, 7 DOK7, 1 CHRNA1 and 1 CHAT...
- Contribution of nicotine acetylcholine receptor polymorphisms to lung cancer risk in a smoking-independent manner in the JapaneseKouya Shiraishi
Biology Division, National Cancer Center Research Institute, National Cancer Center Hospital, Tokyo, Japan
Carcinogenesis 30:65-70. 2009..cancer risk of single-nucleotide polymorphisms (SNPs) in the locus containing two nicotine acetylcholine receptor (CHRNA) genes, whose involvement in tobacco addiction had been indicated...
- RICARDO ANIBAL MASELLI; Fiscal Year: 2014..During the last century, defects in genes encoding the adult acetylcholine receptor (AChR) subunit genes (CHRNA1, CHRNB1, CHRND, CHRNE), and the acetylcholinesterase (AChE) collagenic tail (COLQ) were shown to cause several ..
- MULTIPLE ACTIVITY PATTERNS OF ACETYLCHOLINE RECEPTORSAnthony Auerbach; Fiscal Year: 1999..The third objective is to study the biophysical basis of slow channel congenital myasthenic syndrome (SCCMS), a human disease that arises from natural mutations in the acetylcholine receptor protein...
- PATHOLOGICAL MECHANISMS IN TRANSYNAPTIC CALCIUM OVERLOADChristopher Gomez; Fiscal Year: 2003..The slow channel congenital myasthenic syndrome (SCCMS) is caused by mutations that result in delayed closure of the ion channel of the acetylcholine receptor (AM) of ..
- A thyroid receptor co-activator hypothesis for psychosisRobert Philibert; Fiscal Year: 2005..The net effect will be to produce an independent investigator capable of functional and translational research. ..
- Genetic Studies of Substance Abuse in Iowa AdopteesRobert Philibert; Fiscal Year: 2008..unreadable] [unreadable]..
- Statistical Genetics Methods WorkshopHermine Maes; Fiscal Year: 2008..This workshop will provide that training and identify promising areas for future didactic and collaborative meetings. [unreadable] [unreadable] [unreadable]..
- Allosteric Coupling in Homomeric Cys-loop ReceptorsSTEVEN SINE; Fiscal Year: 2009..Knowledge of how Cys-loop receptors operate at the molecular level is essential to developing therapeutic strategies and drugs with fewer side effects. ..