Affinage

CHRNA4

Neuronal acetylcholine receptor subunit alpha-4 · UniProt P43681

Length
627 aa
Mass
70.0 kDa
Annotated
2026-06-09
83 papers in source corpus 11 papers cited in narrative 11 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CHRNA4 encodes the α4 subunit of a neuronal nicotinic acetylcholine receptor that assembles with the β2 subunit to form an acetylcholine/nicotine-gated, calcium-conducting ion channel (PMID:12766617, PMID:20061993). The M2 channel-lining domain is the critical functional determinant: mutations there alter receptor behavior, with an M2 GCT insertion increasing apparent ACh affinity while reducing calcium permeability (PMID:9175743), and the S252L and T265I substitutions in the same region increasing ACh sensitivity and causing autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE/NFLE) (PMID:10563623, PMID:12823585). The gain-of-function S284L mutation expressed in transgenic rats attenuates GABAergic transmission and produces abnormal glutamate release during slow-wave sleep, establishing disrupted inhibitory neurotransmission as the seizure mechanism (PMID:19020039). A polymorphism in the second intracellular loop (A529/T529) shifts the ratio of high- to low-affinity α4β2 receptor populations and their pharmacology in a β2-dependent manner (PMID:12871652), and in knock-in mice this variant causally modulates nicotine sensitivity, consumption, and reward through midbrain α4β2* receptors and gates ethanol enhancement of nicotine-stimulated cation efflux (PMID:12766617, PMID:20061993). Rare coding variants (R336C, P451L, R487Q) further perturb receptor expression, subcellular distribution, nicotine-induced upregulation, intracellular interactome, and agonist pharmacology (PMID:24385388). Beyond the nervous system, hepatocyte CHRNA4 acts as an ionotropic receptor whose activation by immune-cell-derived acetylcholine or nicotine drives calcium influx and inflammatory signaling to promote metabolic dysfunction-associated steatohepatitis (MASH) (PMID:38056431). CHRNA4 expression is also subject to METTL3-mediated m6A modification of its mRNA, which suppresses its expression and impairs synaptic transmission (PMID:37495067).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1996 Medium

    Defining the genomic organization of CHRNA4 was the prerequisite for systematic mutation screening, answering how the coding region is structured.

    Evidence genomic sequencing, Southern blot, and PCR mapping of the human gene

    PMID:8833159

    Open questions at the time
    • Provides no functional or regulatory information
    • Does not address protein assembly or channel properties
  2. 1997 High

    Reconstitution of an M2-domain insertion mutant established that CHRNA4 mutations can dissociate gating from permeation, increasing ACh affinity while lowering calcium permeability.

    Evidence receptor reconstitution and electrophysiology in a heterologous expression system

    PMID:9175743

    Open questions at the time
    • Single lab, single mutant
    • Does not establish in vivo or disease consequence
  3. 1999 Medium

    Genetic identification of the S252L M2 mutation linked CHRNA4 channel-lining residues to ADNFLE, implicating M2 integrity in disease.

    Evidence SSCP, direct sequencing, and segregation analysis in ADNFLE families

    PMID:10563623

    Open questions at the time
    • No direct functional reconstitution in this study
    • Mechanism connecting mutation to seizures not resolved here
  4. 2003 High

    Functional reconstitution of the T265I mutation showed that disease-associated M2 substitutions confer increased ACh sensitivity, defining a gain-of-function pharmacology.

    Evidence expression of mutant α4β2 in Xenopus oocytes with electrophysiology

    PMID:12823585

    Open questions at the time
    • Single lab
    • Link from altered sensitivity to circuit dysfunction not tested
  5. 2003 High

    Characterization of the A529T intracellular-loop polymorphism established that non-M2 variants tune the proportion and affinity of receptor populations and their antagonist sensitivity.

    Evidence heterologous expression of α4 variants with β2 and electrophysiology; 86Rb+ efflux in mouse thalamic synaptosomes showing β2-dependent ethanol enhancement

    PMID:12766617 PMID:12871652

    Open questions at the time
    • In vitro and synaptosomal assays only
    • Behavioral relevance not yet established at this stage
  6. 2008 High

    A transgenic S284L rat connected a CHRNA4 gain-of-function mutation to attenuated GABAergic transmission and abnormal glutamate release during slow-wave sleep, providing a circuit-level mechanism for NFLE seizures.

    Evidence knock-in transgenic rat with synaptic electrophysiology and seizure phenotyping

    PMID:19020039

    Open questions at the time
    • Single mutation model
    • Does not address how altered channel kinetics map to network changes
  7. 2010 High

    A529 knock-in mice assigned a causal role for the polymorphism in nicotine sensitivity, consumption, and reward via midbrain α4β2* receptors.

    Evidence knock-in mouse, behavioral pharmacology, and ACh-stimulated Rb+ efflux in midbrain

    PMID:20061993

    Open questions at the time
    • Mouse variant; human translation not directly tested
    • Circuit specificity beyond midbrain not resolved
  8. 2014 High

    Multi-modal characterization of three rare coding variants showed that single substitutions reshape receptor expression, trafficking, upregulation, intracellular interactome, and pharmacology.

    Evidence epibatidine binding, LC-MS/MS of immunopurified receptors, oocyte electrophysiology, HEK293 subcellular fractionation

    PMID:24385388

    Open questions at the time
    • Interactome partners not individually validated
    • In vivo phenotype of these variants not tested
  9. 2023 High

    Hepatocyte CHRNA4 was established as an ionotropic driver of liver disease, where acetylcholine/nicotine triggers calcium influx and inflammatory signaling to promote MASH.

    Evidence conditional knockout and pharmacological inhibition in a dietary MASH model with calcium imaging and cytokine measurement

    PMID:38056431

    Open questions at the time
    • Subunit composition of the hepatic receptor not defined
    • Downstream inflammatory signaling steps only partially mapped
  10. 2023 Medium

    m6A profiling identified CHRNA4 mRNA as a METTL3 target whose methylation suppresses expression and impairs synaptic transmission after BPA exposure.

    Evidence MeRIP/m6A sequencing, METTL3 inhibitor and shRNA knockdown, synaptic recordings, and behavioral memory testing in neurons and rats

    PMID:37495067

    Open questions at the time
    • m6A reader/eraser controlling CHRNA4 not identified
    • Direct causality from a specific methylation site not fully resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • The subunit composition and structural basis of non-neuronal (hepatocyte) CHRNA4 receptors and how the same channel mediates both seizure-related neurotransmission and peripheral inflammatory signaling remain unresolved.
  • No structural model of mutant or hepatic receptors in the corpus
  • Tissue-specific assembly partners beyond β2 not defined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 6 GO:0060089 molecular transducer activity 5 GO:0005215 transporter activity 2
Localization
GO:0005886 plasma membrane 2
Pathway
R-HSA-112316 Neuronal System 3 R-HSA-1643685 Disease 3 R-HSA-162582 Signal Transduction 1
Partners
Complex memberships
α4β2 nicotinic acetylcholine receptor

Evidence

Reading pass · 11 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1997 An insertion of three nucleotides (GCT) at position 776 in the M2 domain of CHRNA4 does not prevent receptor function but increases apparent affinity for ACh and significantly lowers calcium permeability of the reconstituted receptor, corresponding to a loss-of-function at the cellular level. Receptor reconstitution and electrophysiological characterization in heterologous expression system Human molecular genetics High 9175743
1999 A C755T missense mutation in exon 5 of CHRNA4 replaces Ser252 (a conserved residue in the M2 channel-lining domain) with leucine, causing ADNFLE; the serine at this position is considered important for channel function. SSCP, direct sequencing, segregation analysis Neurology Medium 10563623
2003 A novel CHRNA4 mutation (T265I) at the extracellular end of the second transmembrane domain increases ACh sensitivity of mutated α4β2 receptors as demonstrated by expression in Xenopus oocytes. Expression in Xenopus oocytes, electrophysiological characterization Epilepsia High 12823585
2003 The Chrna4 A529T polymorphism in the second intracellular loop of the α4 subunit alters the ratio of high- to low-affinity α4β2 nAChR populations: the T529 variant exhibits a higher EC50 for the high-affinity population and a greater proportion of high-affinity receptors (64%) compared with A529 (41%), and shows reduced sensitivity to DHβE blockade. Heterologous expression of mouse α4 variants with β2 subunit, electrophysiology Neuropharmacology High 12871652
2003 The Chrna4 A529 polymorphism (versus T529) in mouse strains enables ethanol (10–100 mM) to enhance maximal nicotine-stimulated 86Rb+ efflux from thalamic synaptosomes; one copy of the A allele is sufficient for this enhancement, and the effect requires the β2 subunit. 86Rb+ efflux assay in thalamic synaptosomes from inbred mouse strains and F2 hybrids Alcoholism, clinical and experimental research High 12766617
2008 Transgenic rats expressing the CHRNA4 S284L mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and abnormal glutamate release during slow-wave sleep, establishing that this gain-of-function mutation disrupts inhibitory neurotransmission as a mechanism for NFLE seizures. Transgenic rat model (knock-in S284L), electrophysiological recordings of synaptic transmission, behavioral seizure phenotyping The Journal of neuroscience High 19020039
2010 Chrna4 A529 knock-in mice exhibit greater sensitivity to nicotine-induced hypothermia, reduced oral nicotine consumption, no conditioned place preference to nicotine, and altered α4β2* nAChR function in midbrain (greater maximal Rb+ efflux and higher proportion of high-sensitivity receptors), demonstrating that the T529A polymorphism causally influences nicotine sensitivity through midbrain α4β2* nAChRs. Knock-in mouse model, behavioral pharmacology, acetylcholine-stimulated Rb+ efflux in midbrain Pharmacogenetics and genomics High 20061993
2014 Three rare CHRNA4 variants (α4R336C, α4P451L, α4R487Q) alter α4β2 nAChR expression, subcellular distribution, sensitivity to nicotine-induced receptor upregulation, intracellular interactome composition (by LC-MS/MS), and electrophysiological parameters of agonist activation in Xenopus oocytes, indicating that single amino acid substitutions in CHRNA4 affect receptor assembly and pharmacology. [3H]epibatidine binding, LC-MS/MS proteomics of immunopurified receptors, voltage-clamp electrophysiology in Xenopus oocytes, subcellular fractionation in HEK293 cells The Journal of pharmacology and experimental therapeutics High 24385388
2023 Hepatocyte-expressed CHRNA4 mediates MASH progression by acting as an ionotropic receptor: acetylcholine (from immune cells) or nicotine activates hepatocyte CHRNA4, inducing calcium influx and activation of inflammatory signaling, leading to cytokine production and liver inflammation. Genetic and pharmacological inhibition of CHRNA4 protected mice from diet-induced MASH. Conditional knockout mice, pharmacological inhibition, calcium imaging, inflammatory cytokine measurements, dietary MASH model Cell metabolism High 38056431
2023 METTL3-mediated m6A modification is enriched on Chrna4 mRNA in hippocampal neurons following BPA exposure, leading to decreased Chrna4 expression; inhibition or knockdown of METTL3 restores Chrna4 expression and rescues BPA-induced spatial memory deficits and abnormal synaptic transmission. m6A sequencing/MeRIP, METTL3 inhibitor and shRNA knockdown in neurons and rats, synaptic transmission recordings, behavioral memory testing Environmental research Medium 37495067
1996 The human CHRNA4 gene consists of six exons distributed over approximately 17 kb of genomic DNA, providing the structural basis for mutation screening of the complete coding region. Genomic sequencing, Southern blot analysis, PCR amplification Genomics Medium 8833159

Source papers

Stage 0 corpus · 83 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1997 An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Human molecular genetics 300 9175743
1999 A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 169 10563623
2005 Ethnic- and gender-specific association of the nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) with nicotine dependence. Human molecular genetics 158 15790597
2007 CHRNA4 and tobacco dependence: from gene regulation to treatment outcome. Archives of general psychiatry 93 17768273
2015 Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence. Translational psychiatry 73 26440539
2006 Interactive effects of APOE and CHRNA4 on attention and white matter volume in healthy middle-aged and older adults. Cognitive, affective & behavioral neuroscience 72 16869227
1999 Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. Archives of neurology 72 10448807
2000 Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia 68 10802757
2003 A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia 66 12823585
2007 Association of attentional network function with exon 5 variations of the CHRNA4 gene. Human molecular genetics 59 17613539
2010 The association between dopamine DRD2 polymorphisms and working memory capacity is modulated by a functional polymorphism on the nicotinic receptor gene CHRNA4. Journal of cognitive neuroscience 56 19803686
2008 Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype. The Journal of neuroscience : the official journal of the Society for Neuroscience 53 19020039
2008 Gene-gene interactions among CHRNA4, CHRNB2, BDNF, and NTRK2 in nicotine dependence. Biological psychiatry 52 18534558
2012 The role of the CHRNA4 gene in Internet addiction: a case-control study. Journal of addiction medicine 48 22722381
2003 Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 45 12887446
1996 Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4). Genomics 40 8833159
2005 Modulation of nicotine but not ethanol preference by the mouse Chrna4 A529T polymorphism. Behavioral neuroscience 39 15727510
2004 Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's disease. Neuroscience letters 38 15026168
2007 Nicotine receptor gene CHRNA4 modulates early event-related potentials in auditory and visual oddball target detection tasks. Neuroscience 37 17590520
2004 Association of polymorphisms in nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4), mu-opioid receptor gene (OPRM1), and ethanol-metabolizing enzyme genes with alcoholism in Korean patients. Alcohol (Fayetteville, N.Y.) 37 15902904
2003 A polymorphism in the alpha4 nicotinic receptor gene (Chrna4) modulates enhancement of nicotinic receptor function by ethanol. Alcoholism, clinical and experimental research 36 12766617
2008 A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. Epilepsy research 35 19058950
1997 Neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and panic disorder: an association study. American journal of medical genetics 34 9129724
2012 A cognitive phenotype for a polymorphism in the nicotinic receptor gene CHRNA4. Neuroscience and biobehavioral reviews 32 22373960
2005 Polymorphisms of the CHRNA4 gene encoding the alpha4 subunit of nicotinic acetylcholine receptor as related to the oxidative DNA damage and the level of apoptotic proteins in lymphocytes of the patients with Alzheimer's disease. DNA and cell biology 30 16332175
1994 A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI). Neurobiology of disease 29 9216991
2011 The nicotinic acetylcholine receptor gene CHRNA4 is associated with negative emotionality. Emotion (Washington, D.C.) 28 21500914
2020 Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy. Epilepsy & behavior : E&B 27 32097883
2016 A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences. Molecular psychiatry 27 26952864
2009 Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. Neurology 27 19822871
2018 CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus? Seizure 25 29454195
2011 Association of CHRNA4 polymorphism with depression and loneliness in elderly males. Genes, brain, and behavior 25 22008229
2007 Association study of the nicotinic acetylcholine receptor alpha4 subunit gene, CHRNA4, in attention-deficit hyperactivity disorder. Genes, brain, and behavior 25 17504247
2013 Nominal association with CHRNA4 variants and nicotine dependence. Genes, brain, and behavior 23 23350800
2011 Association of CHRNA4 polymorphisms with smoking behavior in two populations. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 23 21445957
2003 The mouse Chrna4 A529T polymorphism alters the ratio of high to low affinity alpha 4 beta 2 nAChRs. Neuropharmacology 23 12871652
2010 Nicotinic receptor gene CHRNA4 interacts with processing load in attention. PloS one 21 21203548
1999 SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. Sleep 21 10450598
2023 Hepatocyte CHRNA4 mediates the MASH-promotive effects of immune cell-produced acetylcholine and smoking exposure in mice and humans. Cell metabolism 20 38056431
2012 The dopamine D2 receptor gene DRD2 and the nicotinic acetylcholine receptor gene CHRNA4 interact on striatal gray matter volume: evidence from a genetic imaging study. NeuroImage 20 22947540
2007 Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci. European journal of medical genetics 20 17851150
2017 The association between the nicotinic acetylcholine receptor α4 subunit gene (CHRNA4) rs1044396 and Internet gaming disorder in Korean male adults. PloS one 19 29240768
2010 Chrna4 A529 knock-in mice exhibit altered nicotine sensitivity. Pharmacogenetics and genomics 19 20061993
2009 Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. PloS one 18 19693267
2009 Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate. Attention deficit and hyperactivity disorders 18 21432576
2014 Rare human nicotinic acetylcholine receptor α4 subunit (CHRNA4) variants affect expression and function of high-affinity nicotinic acetylcholine receptors. The Journal of pharmacology and experimental therapeutics 17 24385388
2009 The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. Seizure 17 19577488
2015 Nicotinergic Modulation of Attention-Related Neural Activity Differentiates Polymorphisms of DRD2 and CHRNA4 Receptor Genes. PloS one 16 26079805
2017 Overdominant Effect of a CHRNA4 Polymorphism on Cingulo-Opercular Network Activity and Cognitive Control. The Journal of neuroscience : the official journal of the Society for Neuroscience 15 28877969
2014 Association of the CHRNA4 neuronal nicotinic receptor subunit gene with frequency of binge drinking in young adults. Alcoholism, clinical and experimental research 15 24428733
2023 Decreased expression of Chrna4 by METTL3-mediated m6A modification participates in BPA-induced spatial memory deficit. Environmental research 13 37495067
2011 Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. Journal of human genetics 13 21753767
2000 Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE. American journal of medical genetics 13 11121188
2014 Massive withdrawal symptoms and affective vulnerability are associated with variants of the CHRNA4 gene in a subgroup of smokers. PloS one 12 24498031
1992 The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2. Annals of human genetics 12 1492743
2020 Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 11 32536355
2016 CHRNA4 and ANKK1 Polymorphisms Influence Smoking-Induced Nicotinic Acetylcholine Receptor Upregulation. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco 11 27611310
2015 Individual response speed is modulated by variants of the gene encoding the alpha 4 sub-unit of the nicotinic acetylcholine receptor (CHRNA4). Behavioural brain research 11 25639542
2015 Modulation of nicotine effects on selective attention by DRD2 and CHRNA4 gene polymorphisms. Psychopharmacology 11 25647695
2012 Possible association of nicotinic acetylcholine receptor gene (CHRNA4 and CHRNB2) polymorphisms with nicotine dependence in Japanese males: an exploratory study. Pharmacopsychiatry 11 23037950
2012 A novel differential susceptibility gene: CHRNA4 and moderation of the effect of maltreatment on child personality. Journal of child psychology and psychiatry, and allied disciplines 11 23240931
2007 Effects of APOE and CHRNA4 genotypes on retinal nerve fibre layer thickness at the optic disc and on risk for developing exfoliation syndrome. Acta ophthalmologica Scandinavica 11 17488453
1995 Detection of a CfoI polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4). Human genetics 11 7607646
2010 Epistasis between APOE and nicotinic receptor gene CHRNA4 in age related cognitive function and decline. Journal of the International Neuropsychological Society : JINS 10 20331911
2008 Genetic association analysis of tagging SNPs in alpha4 and beta2 subunits of neuronal nicotinic acetylcholine receptor genes (CHRNA4 and CHRNB2) with schizophrenia in the Japanese population. Journal of neural transmission (Vienna, Austria : 1996) 10 18762859
2017 The influence of CHRNA4, COMT, and maternal sensitivity on orienting and executive attention in 6-month-old infants. Brain and cognition 9 28582665
2015 Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy. International journal of clinical and experimental medicine 9 26309560
2014 A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in a Chinese patient with non-familial nocturnal frontal lobe epilepsy. Epilepsy research 9 25282705
2013 Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures. Epilepsy & behavior case reports 8 25667822
2012 Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 8 22873564
1999 Mutation screening of the CHRNA4 and CHRNB2 nicotinic cholinergic receptor genes in Alzheimer's disease. Neuroreport 8 10549797
2016 Cholinergic modulation of auditory P3 event-related potentials as indexed by CHRNA4 and CHRNA7 genotype variation in healthy volunteers. Neuroscience letters 7 27109789
2015 Association of CHRNA4 gene rs1044396 and rs1044397 polymorphisms with Parkinson's disease symptoms and smoking. Genetics and molecular research : GMR 7 26125703
2019 Depletion of miR-380 mitigates human bronchial epithelial cells injury to improve chronic obstructive pulmonary disease through targeting CHRNA4. Molecular and cellular probes 6 31821848
2018 Study of candidate gene cHRNA4 for familial epilepsy syndrome. European review for medical and pharmacological sciences 6 29630124
2020 Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsy. Epileptic disorders : international epilepsy journal with videotape 5 32031532
2024 Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review. Journal of neurochemistry 3 39193833
2013 Polymorphism in the CHRNA4 gene is associated with rapid scene categorization performance. Attention, perception & psychophysics 3 23720086
2000 A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker. Molecular and cellular probes 2 11090267
2024 Prenatal Hypoxia Predisposes to Impaired Expression of the chrna4 and chrna7 Genes in Adult Rats without Affecting Acetylcholine Metabolism during Embryonic Development. Biochemistry. Biokhimiia 1 39647824
2015 Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sample. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 1 26612384
2013 [Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 24327142
2019 [Association of CHRNA4 gene polymorphisms with response to antidepressant among ethnic Han Chinese]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 31813155

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