The genetics of narcolepsy.

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Annual review of genomics and human genetics (Print)

• Publication date

  2003-11-28

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/J.JSMC.2011.03.001PMID 14527309
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Diagnostic criteria for narcolepsy and HLA-DR2 frequencies.

  2008cited by this paper
• Possible association between HLA-B7 and narcolepsy.

  2008cited by this paper
• The origin of excessive daytime sleepiness in the Prader-Willi syndrome.

  2008cited by this paper
• Difference in obesity phenotype between orexin-knockout mice and orexin neuron-deficient mice with same genetic background and environmental conditions.

  2005cited by this paper
• Canine cataplexy is preferentially controlled by adrenergic mechanisms: evidence using monoamine selective uptake inhibitors and release enhancers

  2005cited by this paper
• Expression of a Poly-Glutamine-Ataxin-3 Transgene in Orexin Neurons Induces Narcolepsy–Cataplexy in the Rat

  2004cited by this paper
• MHC class II sequences of an HLA-DR2 narcoleptic

  2004cited by this paper
• DNA polymorphism related to HLA-DR2 Dw2 in patients with narcolepsy

  2004cited by this paper
• HLA-DQ relative risks for coeliac disease in European populations: a study of the European Genetics Cluster on Coeliac Disease.

  2004cited by this paper
• Genotype effects and epistasis in type 1 diabetes and HLA-DQ trans dimer associations with disease

  2004cited by this paper
• A narcolepsy susceptibility locus maps to a 5Mb region of chromosome 21q

  2004cited by this paper
• Distinct narcolepsy syndromes in Orexin receptor-2 and Orexin null mice: molecular genetic dissection of Non-REM and REM sleep regulatory processes.

  2003cited by this paper
• Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C.

  2003cited by this paper
• Genetics of human laterality disorders: insights from vertebrate model systems.

  2003cited by this paper
• The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits.

  2003cited by this paper
• The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias.

  2002influential reference
• Clinical aspects of narcolepsy-cataplexy across ethnic groups.

  2002cited by this paper
• The genetics of sleep disorders.

  2002cited by this paper
• Sleeping with the hypothalamus: emerging therapeutic targets for sleep disorders

  2002cited by this paper
• The role of hypocretins (orexins) in sleep regulation and narcolepsy.

  2002cited by this paper
• Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups.

  2001cited by this paper
• Expression pattern of human P2Y receptor subtypes: a quantitative reverse transcription-polymerase chain reaction study.

  2001cited by this paper
• Narcolepsy:Clinical Features, New Pathophysiologic Insights, and Future Perspectives

  2001cited by this paper
• Genetic ablation of orexin neurons in mice results in narcolepsy, hypophagia, and obesity.

  2001cited by this paper
• Hypocretin deficiency in familial symptomatic narcolepsy

  2001cited by this paper
• Polymorphisms in hypocretin/orexin pathway genes and narcolepsy

  2001cited by this paper
• Hypocretin/orexin, sleep and narcolepsy

  2001cited by this paper
• Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy

  2001influential reference
• Haplotype analyses with the human leucocyte antigen and tumour necrosis factor‐alpha genes in narcolepsy families

  2001cited by this paper
• MAO-A and COMT polymorphisms and gene effects in narcolepsy

  2001cited by this paper
• ARC syndrome: an expanding range of phenotypes

  2001cited by this paper
• Case-control study with narcoleptic patients and healthy controls who, like the patients, possess both HLA-DRB1*1501 and -DQB1*0602.

  2001cited by this paper
• Narcolepsy and the HLA region.

  2001influential reference
• CSF hypocretin/orexin levels in narcolepsy and other neurological conditions

  2001cited by this paper
• Hypocretin (orexin) deficiency in human narcolepsy.

  2000cited by this paper
• A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains

  2000cited by this paper
• Linkage of human narcolepsy with HLA association to chromosome 4p13-q21.

  2000cited by this paper
• Reduced Number of Hypocretin Clinical Study Neurons in Human Narcolepsy

  2000cited by this paper
• Significant association of the tumor necrosis factor receptor 2 (TNFR2) gene with human narcolepsy.

  2000cited by this paper
• Sporadic Creutzfeldt-Jakob disease: Co-occurrence of different types of PrPSc in the same brain

  1999cited by this paper
• The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene.

  1999cited by this paper
• Validation of a cataplexy questionnaire in 983 sleep-disorders patients.

  1999cited by this paper
• Distribution and quantification of immunoreactive orexin A in rat tissues

  1999cited by this paper
• Structure and Function of Human Prepro-orexin Gene*

  1999cited by this paper
• Novel polymorphism in the promoter region of the tumor necrosis factor alpha gene: No association with narcolepsy.

  1999cited by this paper
• Significant association of a single nucleotide polymorphism in the tumor necrosis factor-alpha (TNF-alpha) gene promoter with human narcolepsy.

  1999cited by this paper
• Construction and characterization of an eightfold redundant dog genomic bacterial artificial chromosome library.

  1999cited by this paper
• A search for a mutation in the tumour necrosis factor‐alpha gene in narcolepsy

  1999cited by this paper
• Analysis of the monoamine oxidase genes and the Norrie disease gene locus in narcolepsy.

  1999cited by this paper
• Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation.

  1999cited by this paper
• Narcolepsy

  1999cited by this paper
• Genetic and familial aspects of narcolepsy

  1998cited by this paper
• Neurons Containing Hypocretin (Orexin) Project to Multiple Neuronal Systems

  1998cited by this paper
• Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior.

  1998cited by this paper
• Cell Adhesion and Reproduction

  1998cited by this paper
• Genetic studies in the sleep disorder narcolepsy.

  1998cited by this paper
• Distribution of orexin receptor mRNA in the rat brain

  1998cited by this paper
• The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity.

  1998cited by this paper
• Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior.

  1998cited by this paper
• Diagnostic aspects of narcolepsy

  1998cited by this paper
• In vivo and in vitro immune variables in patients with narcolepsy and HLA-DR2 matched controls

  1998cited by this paper
• HLA-DQB1*0602 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups. US Modafinil in Narcolepsy Multicenter Study Group.

  1998cited by this paper
• HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients.

  1997cited by this paper
• Value of the multiple sleep latency test (MSLT) for the diagnosis of narcolepsy.

  1997influential reference
• Genetics of narcolepsy and other sleep disorders.

  1997cited by this paper
• Elevation of plasma cytokines in disorders of excessive daytime sleepiness: role of sleep disturbance and obesity.

  1997cited by this paper
• Extensive HLA class II studies in 58 non-DRB1*15 (DR2) narcoleptic patients with cataplexy.

  1997cited by this paper
• HLA class II haplotype and sequence analysis support a role for DQ in narcolepsy

  1997cited by this paper
• IgH (mu-switch and gamma-1) region restriction fragment length polymorphism in human narcolepsy.

  1996cited by this paper
• IgH (μ-switch and γ-1) region restriction fragment length polymorphism in human narcolepsy

  1996cited by this paper
• Narcolepsy.

  1996cited by this paper
• Cataplexy and monoamine oxidase deficiency in Norrie disease

  1996cited by this paper
• Autosomal dominant cerebellar ataxia deafness and narcolepsy.

  1995cited by this paper
• Influence of host defense activation on sleep in humans.

  1995cited by this paper
• DQB1*0602 and DQA1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and black Americans.

  1994cited by this paper
• An immunoglobulin switchlike sequence is linked with canine narcolepsy.

  1994cited by this paper
• Heterozygosity at the canarc-1 locus can confer susceptibility for narcolepsy: induction of cataplexy in heterozygous asymptomatic dogs after administration of a combination of drugs acting on monoaminergic and cholinergic systems

  1993cited by this paper
• HLA-DQ allelic polymorphisms constrain patterns of class II heterodimer formation.

  1993cited by this paper
• DQ (rather than DR) gene marks susceptibility to narcolepsy.

  1992cited by this paper
• Genetic linkage of autosomal recessive canine narcolepsy with a mu immunoglobulin heavy-chain switch-like segment.

  1991cited by this paper
• CSF immune variables in patients with narcolepsy

  1990cited by this paper
• The genetics of narcolepsy.

  1989cited by this paper
• No difference in the nucleotide sequence of the DQß ß1 domain between narcoleptic and healthy individuals with DR2,Dw2

  1989cited by this paper
• No difference in the nucleotide sequence of the DQ beta beta 1 domain between narcoleptic and healthy individuals with DR2,Dw2.

  1989cited by this paper
• Possible male segregation distortion of DR2 haplotypes in narcolepsy patients.

  1987cited by this paper
• HLA antigens in narcolepsy

  1987cited by this paper
• HLA-DR2 and Dw2 in narcolepsy and in other disorders of excessive somnolence without cataplexy.

  1986influential reference
• Human histocompatibility leukocyte antigen (HLA) haplotype frequencies estimated from the data on HLA class I, II, and III antigens in 111 Japanese narcoleptics.

  1985influential reference
• HLA antigens in Japanese patients with narcolepsy. All the patients were DR2 positive.

  1984influential reference
• HLA antigens in Japanese patients with narcolepsy

  1984cited by this paper

• Passive and active demethylation in immune diseases with proliferation driving global hypomethylation

  2025cites this paper
• A Tool for the Assessment of HLA-DQ Heterodimer Variation in Hematopoietic Cell Transplantation: HLA-DQ Heterodimers Tool.

  2024cites this paper
• Disadvantaged social status contributed to sleep disorders: An observational and genome-wide gene-environment interaction analysis.

  2024cites this paper
• HLA structure and function in hematopoietic-cell transplantation.

  2024cites this paper
• The Role of T Cells in the Pathogenesis of Narcolepsy Type 1: A Narrative Review

  2024cites this paper
• Inborn Errors of Immunity and Autoimmune Disease.

  2023cites this paper
• Genetics and epigenetics of rare hypersomnia.

  2023cites this paper
• A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1

  2023cites this paper
• HLA-G and the MHC Cusp Theory

  2022cites this paper
• Retrospective cohort study of hypersomnias of central origin from two Australian tertiary sleep disorders services

  2022cites this paper
• Genetic and biological factors in sleep

  2022cites this paper
• Whole-genome analysis of monozygotic Brazilian twins discordant for type 1 narcolepsy: a case report

  2022cites this paper
• Management of narcolepsy at school: Implications for school psychologists

  2022cites this paper
• HLA-DQ Heterodimers in Hematopoietic-Cell Transplantation.

  2022cites this paper
• Sleep disorders in dogs: A pathophysiological and clinical review.

  2021cites this paper
• Case report: narcolepsy type 2 due to the optic nerve infection of Herpes zoster virus

  2021cites this paper
• Twin Studies in Sleep Medicine: A Review

  2021cites this paper
• Developmental “Hows” of the Spiritual Dimension

  2021cites this paper
• Current Understanding of Narcolepsy 1 and its Comorbidities: What Clinicians Need to Know

  2021cites this paper
• The association between narcolepsy during pregnancy and maternal-fetal risk factors/outcomes

  2021influential citation
• Sleep Disorders and their Consequences on the Military Personnel: A Narrative Review

  2020cites this paper
• HLA and sleep parameter associations in post-H1N1 narcolepsy type 1 patients and first-degree relatives.

  2020cites this paper
• Neuroimaging of Narcolepsy and Primary Hypersomnias

  2020cites this paper
• Supporting Students with Chronic Health Conditions: An Evaluation of School Nurses’ Collaborative Practices with School Psychologists

  2019cites this paper
• The Role of Autoimmunity in Narcolepsy A Review

  2019cites this paper
• Untangling narcolepsy and diabetes: Pathomechanisms with eyes on therapeutic options.

  2019cites this paper
• MHC Genomics and Disease: Looking Back to Go Forward

  2019cites this paper
• Genetic Factors in Sleep Disorders: What Are the Roles of Genetic Factors in the Pathogenesis of Sleep Disorders?

  2018cites this paper
• The association of HLA-DQB 1 * 0602 but not HLA-DRB 1 * 15 with obstructive sleep apnea

  2018cites this paper
• HLA-DQB1*06:02 allele frequency and clinic-polysomnographic features in Saudi Arabian patients with narcolepsy

  2018cites this paper
• Narcolepsy

  2017cites this paper
• The association of HLA-DQB1*0602 but not HLA-DRB1*15 with obstructive sleep apnea.

  2017cites this paper
• Fine-mapping of the human leukocyte antigen locus as a risk factor for Alzheimer disease: A case–control study

  2017cites this paper
• Sleep-Wake Disorders of Childhood

  2017cites this paper
• Narcolepsy in Adolescence-A Missed Diagnosis: A Case Report.

  2017cites this paper
• The Immune Basis of Narcolepsy: What Is the Evidence?

  2017cites this paper
• Fine-mapping of the human leukocyte antigen locus as a risk factor for Alzheimer disease: A case–control study

  2017cites this paper
• Pleiotropic genetic effects influencing sleep and neurological disorders.

  2017cites this paper
• Narcolepsy Type 1 as an Autoimmune Disorder: Evidence, and Implications for Pharmacological Treatment

  2017cites this paper
• Chapter 31 – Genetics and Genomic Basis of Sleep Disorders in Humans

  2017cites this paper
• Morphological alterations in amygdalo-hippocampal substructures in narcolepsy patients with cataplexy

  2016cites this paper
• Genetic Research on Sleep, Sleep Disturbances and Associated Difficulties

  2016cites this paper
• Molecular HLA Typing

  2016cites this paper
• White matter alterations in narcolepsy patients with cataplexy: tract‐based spatial statistics

  2016cites this paper
• The Risk of Sleep Disorder Among Persons with Mild Traumatic Brain Injury

  2016cites this paper
• Transcriptional architecture of the mammalian circadian clock

  2016cites this paper
• Sleep and Sleep–Wake Disorders

  2015cites this paper
• Genetics of Sleep Disorders.

  2015cites this paper
• Generation of neuropeptidergic hypothalamic neurons from human pluripotent stem cells

  2015cites this paper
• On the genetics of sleep disorders: genome-wide association studies and beyond

  2015cites this paper
• Juvenile myoclonic epilepsy and narcolepsy: A series of three cases.

  2015cites this paper
• Narcolepsy With Cataplexy

  2015cites this paper
• The Effects of Nutrition on Sleep and Sleep Complaints among Elderly Persons

  2015cites this paper
• Narcolepsy in pediatric age – Experience of a tertiary pediatric hospital

  2014cites this paper
• The Neurobiology of Childhood

  2014cites this paper
• Genetische Diagnostik von Schlafstörungen

  2014cites this paper
• Sleep in childhood and adolescence: age-specific sleep characteristics, common sleep disturbances and associated difficulties.

  2014cites this paper
• Endocrine and neurophysiological examination of sleep disorders in Williams syndrome

  2014cites this paper
• HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency.

  2014cites this paper
• LOODUS- JA TEHNOLOOGIATEADUSKOND MOLEKULAAR- JA RAKUBIOLOOGIA INSTITUUT BIOTEHNOLOOGIA ÕPPETOOL

  2013cites this paper
• Quantitative genetic research on sleep: a review of normal sleep, sleep disturbances and associated emotional, behavioural, and health-related difficulties.

  2013cites this paper
• Genetic and immunologic aspects of sleep and sleep disorders.

  2013cites this paper
• Association analysis of the major histocompatibility complex, class II, DQ β1 gene, HLA-DQB1, with narcolepsy in Han Chinese patients from Taiwan.

  2013cites this paper
• Familial and Genetic Factors of Narcolepsy

  2013cites this paper
• Identificação de Factores Genéticos de Risco em Indivíduos com Patologias do Sono

  2013cites this paper
• Major histocompatibility complex genomics and human disease.

  2013cites this paper
• Malformation Chiari-Like : l’investigation d’une maladie complexe par l’utilisation d’un modèle canin

  2012cites this paper
• Sleepiness that cannot be overcome: Narcolepsy and cataplexy

  2012cites this paper
• Video Presentations

  2012cites this paper
• Comorbidities of Central Nervous System Hypersomnia

  2012cites this paper
• Hippocampal volume and memory in narcoleptics with cataplexy.

  2012cites this paper
• DQB1*06:02 allele-specific expression varies by allelic dosage, not narcolepsy status.

  2012cites this paper
• Month of birth is associated with multiple sclerosis but not with HLA-DR15 in Finland

  2012cites this paper
• Zur Pathogenese der Narkolepsie: Vom HLA-Typus als Risikoprofil zum Hypocretinmangel als Ursache

  2012cites this paper
• 2011-2012 UNLV McNair Journal

  2011cites this paper
• Narcolepsy in New Zealand: pathway to diagnosis and effect on quality of life.

  2011cites this paper
• Analysis of cortical thickness in narcolepsy patients with cataplexy.

  2011cites this paper
• Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

  2011cites this paper
• CORTICAL THICKNESS IN NARCOLEPSY WITH CATAPLEXY

  2011cites this paper
• A real-time PCR assay for the rapid identification of the autoimmune disease-associated allele HLA-DQB1*0602

  2011cites this paper
• Hypersomnia.

  2011cites this paper
• Pharmacological Validation of Candidate Causal Sleep Genes Identified in an N2 Cross

  2011cites this paper
• Background Document to the ESHG recommendations on genetic testing and common disorders

  2011cites this paper
• Genetics of sleep and sleep disorders.

  2011cites this paper
• Immunological and Genetic Aspects of Narcolepsy

  2011cites this paper
• Chapter 16 – Genetics of Sleep and Sleep Disorders in Humans

  2011cites this paper
• Molecular neurobiology of sleep.

  2011cites this paper
• Update on sleep and its disorders.

  2011cites this paper
• Expert opinion on pharmacotherapy of narcolepsy

  2010cites this paper
• Environmental toxins and risk of narcolepsy among people with HLA DQB1*0602.

  2010cites this paper
• Man's best friend becomes biology's best in show: genome analyses in the domestic dog.

  2010cites this paper
• Leading the way: canine models of genomics and disease

  2010cites this paper
• Narcolepsy, Intimacy and Sexuality

  2010cites this paper
• Practical diagnostic strategies and tools for insomnia.

  2010cites this paper
• Narcolepsy and Other Comorbid Medical Illnesses

  2010cites this paper
• Medical exposures in youth and the frequency of narcolepsy with cataplexy: a population‐based case–control study in genetically predisposed people

  2010cites this paper
• Gray Matter Concentration Abnormality in Brains of Narcolepsy Patients

  2009cites this paper
• A real-time polymerase chain reaction assay for the rapid identification of the autoimmune disease-associated allele HLA-DQB1*0602.

  2009cites this paper
• Genetik von Schlafstörungen

  2008cites this paper
• Calcium and Phospholipases in Orexin Receptor Signaling

  2008cites this paper