CHRNA1

Summary

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
Species: human

Top Publications

  1. ncbi Alpha and beta subunits of acetylcholine receptors in the human inner ear
    R Popa
    Department of Otolaryngology and Head Neck Surgery, Uppsala University Hospital Akademiska sjukhuset, Uppsala, Sweden
    Acta Otolaryngol 120:484-9. 2000
  2. ncbi Genetics of autoimmune myasthenia gravis, a model for antibody-mediated autoimmunity in man
    Henri Jean Garchon
    INSERM U580, 161 rue de Sevres, 75743 Paris Cedex 15, France
    J Autoimmun 21:105-10. 2003
  3. pmc The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon
    D Beeson
    Department of Clinical Neurology, University of Oxford, UK
    EMBO J 9:2101-6. 1990
  4. ncbi Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor
    H J Kreienkamp
    Department of Pharmacology, La Jolla 92093
    Neuron 14:635-44. 1995
  5. ncbi New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
    A G Engel
    Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hum Mol Genet 5:1217-27. 1996
  6. ncbi 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 binding
    Loukia Psaridi-Linardaki
    Department of Biochemistry, Hellenic Pasteur Institute, 127 Vas Sofias Avenue, 11521 Athens, Greece
    J Biol Chem 277:26980-6. 2002
  7. pmc hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
    Akio Masuda
    Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Hum Mol Genet 17:4022-35. 2008
  8. pmc Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes
    Nancy 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
  9. pmc 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 syndrome
    Yang 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
  10. ncbi B cells from p50/NF-kappa B knockout mice have selective defects in proliferation, differentiation, germ-line CH transcription, and Ig class switching
    C M Snapper
    Department of Pathology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
    J Immunol 156:183-91. 1996

Research Grants

  1. RICARDO ANIBAL MASELLI; Fiscal Year: 2014
  2. MULTIPLE ACTIVITY PATTERNS OF ACETYLCHOLINE RECEPTORS
    Anthony Auerbach; Fiscal Year: 1999
  3. PATHOLOGICAL MECHANISMS IN TRANSYNAPTIC CALCIUM OVERLOAD
    Christopher Gomez; Fiscal Year: 2003
  4. A thyroid receptor co-activator hypothesis for psychosis
    Robert Philibert; Fiscal Year: 2005
  5. Genetic Studies of Substance Abuse in Iowa Adoptees
    Robert Philibert; Fiscal Year: 2008
  6. Statistical Genetics Methods Workshop
    Hermine Maes; Fiscal Year: 2008
  7. Allosteric Coupling in Homomeric Cys-loop Receptors
    STEVEN SINE; Fiscal Year: 2009

Scientific Experts

Detail Information

Publications125 found, 100 shown here

  1. ncbi Alpha and beta subunits of acetylcholine receptors in the human inner ear
    R 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...
  2. ncbi Genetics of autoimmune myasthenia gravis, a model for antibody-mediated autoimmunity in man
    Henri 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.
  3. pmc The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon
    D 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...
  4. ncbi Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor
    H 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...
  5. ncbi New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
    A 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...
  6. ncbi 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 binding
    Loukia 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 ..
  7. pmc hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
    Akio Masuda
    Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Hum Mol Genet 17:4022-35. 2008
    In 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...
  8. pmc Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes
    Nancy 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
    ....
  9. pmc 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 syndrome
    Yang 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...
  10. ncbi B cells from p50/NF-kappa B knockout mice have selective defects in proliferation, differentiation, germ-line CH transcription, and Ig class switching
    C 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...
  11. doi Genetic factors in autoimmune myasthenia gravis
    Matthieu 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 ..
  12. ncbi Expression and renaturation of the N-terminal extracellular domain of torpedo nicotinic acetylcholine receptor alpha-subunit
    A 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...
  13. ncbi Treatment of slow-channel congenital myasthenic syndrome with fluoxetine
    C 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...
  14. pmc A twin association study of nicotine dependence with markers in the CHRNA3 and CHRNA5 genes
    Hermine 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...
  15. doi Congenital myasthenic syndrome: a brief review
    Paulo 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...
  16. doi Combining multiple laser scans of spotted microarrays by means of a two-way ANOVA model
    Jérôme 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...
  17. pmc 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
    Athanasios 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. ..
  18. pmc A DRD1 polymorphism predisposes to lung cancer among those exposed to secondhand smoke during childhood
    Ana 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 ..
  19. pmc Lateral diffusion, function, and expression of the slow channel congenital myasthenia syndrome αC418W nicotinic receptor mutation with changes in lipid raft components
    Jessica 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. ..
  20. doi Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations
    Cheng 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...
  21. doi Pathways to smoking behaviours: biological insights from the Tobacco and Genetics Consortium meta-analysis
    C 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 ..
  22. ncbi Gene Polymorphisms for Both Auto-antigen and Immune-Modulating Proteins Are Associated with the Susceptibility of Autoimmune Myasthenia Gravis
    Hai 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 ..
  23. pmc A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation
    Wen 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...
  24. doi Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction
    Kinji 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...
  25. ncbi ALS and SAD-like nicotinic acetylcholine receptor subunit genes are widely distributed in insects
    F Sgard
    Zeneca Agrochemicals, Bracknell, Berkshire
    Insect Mol Biol 2:215-23. 1993
    Segments 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 ..
  26. doi Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties
    Marios Zouridakis
    Department of Biochemistry, Hellenic Pasteur Institute, 127, GR11521, Athens, Greece
    Biochim Biophys Acta 1794:355-66. 2009
    ....
  27. ncbi The effect of memantine and levodopa/carbidopa on the responses of phrenic nerve-diaphragm preparations from aged rats
    Soha 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...
  28. doi Prognostic factors for the outcome of surgical and conservative treatment of symptomatic spinal cord cavernous malformations: a review of a series of 20 patients
    Hans Jakob Steiger
    Department of Neurosurgery, University Hospital, Heinrich Heine University, Dusseldorf, Germany
    Neurosurg Focus 29:E13. 2010
    In 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.
  29. ncbi Gene expression profiling of rat fetuses exposed to 2-dimensional ultrasound
    Zvonko 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...
  30. doi Pregnancy in congenital myasthenic syndrome
    L 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...
  31. doi High expression of CHRNA1 is associated with reduced survival in early stage lung adenocarcinoma after complete resection
    Peter 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...
  32. pmc Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype
    Gabriel 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...
  33. doi Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens
    Mireia 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...
  34. doi Inherited disorders of the neuromuscular junction: an update
    Pedro 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...
  35. pmc Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
    M 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...
  36. doi Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes
    Shoin 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. 2015
    b>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)...
  37. pmc Loss of neurogenesis in Hydra leads to compensatory regulation of neurogenic and neurotransmission genes in epithelial cells
    Y 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...
  38. doi Effect of nicotinic acetylcholine receptor alpha 1 (nAChRα1) peptides on rabies virus infection in neuronal cells
    Basavaraj 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. ..
  39. pmc Evidence for Association Between Low Frequency Variants in CHRNA6/CHRNB3 and Antisocial Drug Dependence
    Helen 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...
  40. pmc Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome
    Ariana 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...
  41. pmc Nucleotide sequence of the mouse muscle nicotinic acetylcholine receptor alpha subunit
    K E Isenberg
    Nucleic Acids Res 14:5111. 1986
  42. ncbi The Caenorhabditis elegans lev-8 gene encodes a novel type of nicotinic acetylcholine receptor alpha subunit
    Paula 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...
  43. pmc Integrative gene network analysis provides novel regulatory relationships, genetic contributions and susceptible targets in autism spectrum disorders
    Tin 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...
  44. pmc Transgenic mouse model reveals an unsuspected role of the acetylcholine receptor in statin-induced neuromuscular adverse drug reactions
    G 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 ..
  45. pmc Genetic association analysis of complex diseases incorporating intermediate phenotype information
    Yafang 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...
  46. ncbi Isolation of a cDNA clone coding for a possible neural nicotinic acetylcholine receptor alpha-subunit
    J 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 ..
  47. ncbi Yeast expression and NMR analysis of the extracellular domain of muscle nicotinic acetylcholine receptor alpha subunit
    Yun 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...
  48. doi Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children
    Tale M Torjussen
    National Centre for Epilepsy, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway
    Pediatr Allergy Immunol 23:40-9. 2012
    The CHRNA 3 and 5 genes on chromosome 15 encode the alpha subunits of the nicotinic acetylcholine receptor, mediating airway cholinergic activity...
  49. pmc Nicotinic acetylcholine receptor variants associated with susceptibility to chronic obstructive pulmonary disease: a meta-analysis
    Jing 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...
  50. doi Agrin induces association of Chrna1 mRNA and nicotinic acetylcholine receptor in C2C12 myotubes
    Yung 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...
  51. pmc A functional polymorphism in the CHRNA3 gene and risk of chronic obstructive pulmonary disease in a Korean population
    Jae 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 ..
  52. doi Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome
    Srinivas 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...
  53. doi [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...
  54. pmc HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA
    Mohammad Alinoor Rahman
    Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan
    Sci Rep 3:2931. 2013
    CHRNA1 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...
  55. doi Angioleiomyomas of the dura: rare entities that lack KRIT1 mutations
    Tracy 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)...
  56. doi Bone marrow-derived mesenchymal stem cells up-regulate acetylcholine receptor delta subunit through NRG/ErbB3-mediated mitogen-activated protein kinase pathway
    Li 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 ..
  57. pmc CHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in Poland
    Megan 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:..
  58. pmc Association study of nicotinic acetylcholine receptor genes identifies a novel lung cancer susceptibility locus near CHRNA1 in African-Americans
    Kyle 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)...
  59. ncbi Binding of HIV-1 gp120 to the nicotinic receptor
    L 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...
  60. ncbi Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor
    X 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...
  61. pmc The MyoD family of myogenic factors is regulated by electrical activity: isolation and characterization of a mouse Myf-5 cDNA
    A 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...
  62. ncbi Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17
    D 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.
  63. pmc Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis
    R 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...
  64. ncbi The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA
    R 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...
  65. ncbi The slow channel syndrome. Two new cases
    H 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...
  66. ncbi Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases
    A 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...
  67. ncbi [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...
  68. pmc Human nicotinic acetylcholine receptor alpha-subunit isoforms: origins and expression
    C 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)...
  69. ncbi Chromosomal localization of the mouse titin gene and its relation to "muscular dystrophy with myositis" and nebulin genes on chromosome 2
    M 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.
  70. ncbi Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo
    Z 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...
  71. ncbi Neuronal nicotinic receptor alpha 6 subunit mRNA is selectively concentrated in catecholaminergic nuclei of the rat brain
    N 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 ..
  72. ncbi Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome
    R 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)...
  73. ncbi Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome
    C M Harper
    Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Ann Neurol 43:480-4. 1998
    The slow-channel congenital myasthenic syndrome (SCCMS) is caused by gain of function mutations in subunits of the end-plate acetylcholine receptor (AChR)...
  74. ncbi Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating
    H 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...
  75. ncbi Molecular cloning of the canine nicotinic acetylcholine receptor alpha-subunit gene and development of the ELISA method to diagnose myasthenia gravis
    T 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...
  76. ncbi Laminin and alpha7beta1 integrin regulate agrin-induced clustering of acetylcholine receptors
    D J Burkin
    Department of Cell and Structural Biology, University of Illinois, Urbana, IL 61801, USA
    J Cell Sci 113:2877-86. 2000
    ....
  77. ncbi Examination of genetic linkage of chromosome 15 to schizophrenia in a large Veterans Affairs Cooperative Study sample
    D 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...
  78. ncbi Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes
    R Croxen
    Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Neurology 59:162-8. 2002
    Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance...
  79. ncbi Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome
    Christopher 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...
  80. ncbi Identification and localization of the nicotinic acetylcholine receptor alpha3 mRNA in the brain of the honeybee, Apis mellifera
    S 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...
  81. ncbi Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference
    Amr Abdelgany
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, UK
    Hum Mol Genet 12:2637-44. 2003
    Slow 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...
  82. ncbi Mechanistic diversity underlying fast channel congenital myasthenic syndromes
    Steven 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 ..
  83. ncbi Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome
    R Webster
    Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Neurology 62:1090-6. 2004
    ....
  84. ncbi Increased neuromuscular activity causes axonal defects and muscular degeneration
    Julie 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, ..
  85. ncbi A novel permutation testing method implicates sixteen nicotinic acetylcholine receptor genes as risk factors for smoking in schizophrenia families
    Stephen 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)...
  86. ncbi The Caenorhabditis elegans unc-63 gene encodes a levamisole-sensitive nicotinic acetylcholine receptor alpha subunit
    Emmanuel 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...
  87. ncbi Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay
    Soledad 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)...
  88. pmc Role of pairwise interactions between M1 and M2 domains of the nicotinic receptor in channel gating
    Jeremías 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...
  89. ncbi A central role for nicotinic cholinergic regulation of growth factor-induced endothelial cell migration
    Martin 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...
  90. pmc No evidence for association between 19 cholinergic genes and bipolar disorder
    Jiajun 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) ..
  91. pmc Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomas
    S 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)...
  92. ncbi An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus
    Matthieu 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 ..
  93. ncbi Analysis and mapping of CACNB4, CHRNA1, KCNJ3, SCN2A and SPG4, physiological candidate genes for porcine congenital progressive ataxia and spastic paresis
    S 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 ..
  94. doi The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcriptional regulation by ATOH1 and co-expression with the γ subunit in hair cells
    Deborah 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...
  95. pmc Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients
    Julie 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...
  96. pmc Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
    Anne 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 ..
  97. doi 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 ..
  98. pmc Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study
    Patrick 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...
  99. doi Congenital myasthenic syndromes in childhood: diagnostic and management challenges
    M 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...
  100. doi Contribution of nicotine acetylcholine receptor polymorphisms to lung cancer risk in a smoking-independent manner in the Japanese
    Kouya 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...

Research Grants7

  1. 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 ..
  2. MULTIPLE ACTIVITY PATTERNS OF ACETYLCHOLINE RECEPTORS
    Anthony 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...
  3. PATHOLOGICAL MECHANISMS IN TRANSYNAPTIC CALCIUM OVERLOAD
    Christopher 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 ..
  4. A thyroid receptor co-activator hypothesis for psychosis
    Robert Philibert; Fiscal Year: 2005
    ..The net effect will be to produce an independent investigator capable of functional and translational research. ..
  5. Genetic Studies of Substance Abuse in Iowa Adoptees
    Robert Philibert; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  6. Statistical Genetics Methods Workshop
    Hermine Maes; Fiscal Year: 2008
    ..This workshop will provide that training and identify promising areas for future didactic and collaborative meetings. [unreadable] [unreadable] [unreadable]..
  7. Allosteric Coupling in Homomeric Cys-loop Receptors
    STEVEN 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. ..