Last Posted: Apr 10, 2021
- High nocturnal sleep fragmentation is associated with low T lymphocyte P2Y11 protein levels in narcolepsy type 1.
Viste Rannveig, et al. Sleep 2021 3
- Histamine H receptor gene variants associated with drug abuse in patients with cocaine use disorder.
Pallardo-Fernández Iñigo, et al. Journal of psychopharmacology (Oxford, England) 2020 10 269881120961253
- The impact of the HLA DQB1 gene and amino acids on the development of narcolepsy.
Kachooei-Mohaghegh-Yaghoobi Leila et al. The International journal of neuroscience 2020 Oct 1-11
- Differences in clinical and genetic characteristics between early- and late-onset narcolepsy in a Han Chinese cohort.
Ouyang Hui, et al. Neural regeneration research 2020 10 (10) 1887-1893
- HLA and sleep parameter associations in post-H1N1 narcolepsy type 1 patients and first-degree relatives.
Juvodden Hilde T, et al. Sleep 2019 10
- HLA high-resolution typing by next-generation sequencing in Pandemrix-induced narcolepsy.
Lind Alexander, et al. PloS one 2019 0 (10) e0222882
- Computer Algorithms in Assessment of Obstructive Sleep Apnoea Syndrome and Its Application in Estimating Prevalence of Sleep Related Disorders in Population.
Katyayan Angira et al. Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2019 Sep 71(3) 352-359
- Fine-mapping of the human leukocyte antigen locus as a risk factor for Alzheimer disease: A case-control study.
Steele Natasha Z R, et al. PLoS medicine 2017 3 (3) e1002272
- Correlation between HLA-DQB1*06:02 and narcolepsy with and without cataplexy: approving a safe and sensitive genetic test in four major ethnic groups. A systematic meta-analysis.
Capittini C, et al. Sleep medicine 2018 12 150-157
- Precision Medicine for Idiopathic Hypersomnia.
Arnulf Isabelle et al. Sleep medicine clinics 2019 Sep 14(3) 333-350
- Relationship between T-cell receptor a gene polymorphisms and symptomatic differences in patients with narcolepsy type 1.
Ouyang Hui, et al. Chinese medical journal 2019 7
- Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival.
Hallberg Pär, et al. EBioMedicine 2019 1
- A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.
Miyagawa Taku, et al. Journal of human genetics 2018 9
- HLA-DQB1*06:02 allele frequency and clinic-polysomnographic features in Saudi Arabian patients with narcolepsy.
Al Shareef Saad M, et al. Sleep & breathing = Schlaf & Atmung 2018 9
- Just 21 People Are Known to Have This Rare Genetic Condition. Can You Help Us Find More?
L Sanders, New York Times, August, 2018
- ImmunoChip study implicates antigen presentation to T cells in narcolepsy.
Faraco Juliette, et al. PLoS genetics 2013 0 (2) e1003270
- The immunogenetics of narcolepsy associated with A(H1N1)pdm09 vaccination (Pandemrix) supports a potent gene-environment interaction.
Bomfim I L, et al. Genes and immunity 2017 3
- Renin-angiotensin system gene expression and neurodegenerative diseases.
Goldstein Benjamin, et al. Journal of the renin-angiotensin-aldosterone system : JRAAS 2016 7 (3)
- Distribution of HLA-DQB1 in Czech Patients with Central Hypersomnias.
Vrana Milena, et al. Archivum immunologiae et therapiae experimentalis 2017 1
- Environmental factors in the etiology of type 1 diabetes, celiac disease, and narcolepsy.
Lernmark Åke, et al. Pediatric diabetes 2016 7 65-72
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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