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https://www.readbyqxmd.com/read/29449121/sleep-disorders-and-parkinson-disease-lessons-from-genetics
#1
REVIEW
Ziv Gan-Or, Roy N Alcalay, Guy A Rouleau, Ronald B Postuma
Parkinson disease is a common, age-related neurodegenerative disorder, projected to afflict millions of individuals in the near future. Understanding its etiology and identifying clinical, genetic or biological markers for Parkinson disease onset and progression is therefore of major importance. Various sleep-related disorders are the most common group of non-motor symptoms in advanced Parkinson disease, but they can also occur during its prodromal phase. However, with the exception of REM sleep behavior disorder, it is unclear whether they are part of the early pathological process of Parkinson disease, or if they develop as Parkinson disease advances because of treatments and neurodegeneration progression...
January 31, 2018: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29445422/sleeping-beauty-transposon-integrates-into-non-ta-dinucleotides
#2
Yabin Guo, Yin Zhang, Kaishun Hu
Background: Sleeping Beauty transposon (SB) has become an increasingly important genetic tool for generating mutations in vertebrate cells. It is widely thought that SB exclusively integrates into TA dinucleotides. However, this strict TA-preference has not been rigorously tested in large numbers of insertion sites that now can be detected with next generation sequencing. Li et al. found 71 SB insertions in non-TA dinucleotides in 2013, suggesting that TA dinucleotides are not the only sites of SB integration, yet further studies on this topic have not been carried out...
2018: Mobile DNA
https://www.readbyqxmd.com/read/29444170/genotypic-and-phenotypic-characterization-of-the-sdccag8tn-sb-tyr-2161b-ca1c2ove-mouse-model
#3
Katie Weihbrecht, Wesley A Goar, Calvin S Carter, Val C Sheffield, Seongjin Seo
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also associated with BBS. To better understand the patho-mechanisms of NPHP and BBS caused by loss of SDCCAG8 function, we characterized an SDCCAG8 mouse model (Sdccag8Tn(sb-Tyr)2161B...
2018: PloS One
https://www.readbyqxmd.com/read/29443066/constitutive-and-inducible-systems-for-genetic-in-vivo-modification-of-mouse-hepatocytes-using-hydrodynamic-tail-vein-injection
#4
Eric K Hubner, Christian Lechler, Thomas N Rösner, Birgit Kohnke-Ertel, Roland M Schmid, Ursula Ehmer
In research models of liver cancer, regeneration, inflammation, and fibrosis, flexible systems for in vivo gene expression and silencing are highly useful. Hydrodynamic tail vein injection of transposon-based constructs is an efficient method for genetic manipulation of hepatocytes in adult mice. In addition to constitutive transgene expression, this system can be used for more advanced applications, such as shRNA-mediated gene knock-down, implication of the CRISPR/Cas9 system to induce gene mutations, or inducible systems...
February 2, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29441659/genetic-polymorphisms-associated-with-circadian-rhythm-dysregulation-provide-new-perspectives-on-bipolar-disorder
#5
REVIEW
Thomaz Oliveira, Victor Marinho, Valécia Carvalho, Francisco Magalhães, Kaline Rocha, Carla Ayres, Silmar Teixeira, Monara Nunes, Victor Hugo Bastos, Giovanny R Pinto
OBJECTIVES: The objective of this study was to present a broad view of how genetic polymorphisms in genes that control the rhythmicity and function of circadian rhythm may influence the etiology, pathophysiology and treatment of bipolar disorder (BD). METHODS: A bibliographic search was performed to identify and select papers reporting studies on variations in circadian genes and BD. A search of Medline, Google Scholar, Scopus, and Web of Science was carried out to review the literature...
February 13, 2018: Bipolar Disorders
https://www.readbyqxmd.com/read/29432985/a-relatively-mild-phenotype-associated-with-mutation-of-scn8a
#6
Irene Bagnasco, Patrizia Dassi, Roberta Blé, Piernanda Vigliano
Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay. Recently various authors have reported patients carrying autosomal dominant heterozygous SCN8A mutations and a milder phenotype expression. We discuss the case of a 6-year-old girl with a positive family history for epilepsy, early benign focal epilepsy, well controlled by Carbamazepine, upper limb tremor since birth, ataxia, slight motor delay and normal cognitive development...
February 7, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29429257/-clinical-features-and-gene-analysis-of-tbc1d24-gene-mutation-related-early-onset-focal-myoclonic-epilepsy
#7
X R Leng, J Ye, Q L Zhou, X H Qi, Y H Dong, L P Zhang, Y F Zhang, Y P Wang, L P Li, Y C Lin
Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutation related early-onset focal myoclonic epilepsy. Methods: Clinical data of 3 patients with TBC1D24 gene mutation related early-onset focal myoclonic epilepsy of Xuanwu Hospital from November 2016 to June 2017 was collected and analyzed.Candidate gene mutations were screened by second generation sequencing. Results: Among the 3 patients, 1 was male and 2 were females.Seizure onset age was 4 months, 3 years and 5 years after birth respectively...
February 6, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29429039/health-survey-of-adults-with-neurofibromatosis-1-compared-to-population-study-controls
#8
Krister W Fjermestad, Livø Nyhus, Øivind J Kanavin, Arvid Heiberg, Lise B Hoxmark
Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. We conducted a cross-sectional self-report survey of 142 persons with NF1 (M age = 50.3 years, SD = 12.0, range 32 to 80; 62...
February 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29426848/sleep-endophenotypes-of-schizophrenia-slow-waves-and-sleep-spindles-in-unaffected-first-degree-relatives
#9
Armando D'Agostino, Anna Castelnovo, Simone Cavallotti, Cecilia Casetta, Matteo Marcatili, Orsola Gambini, Mariapaola Canevini, Giulio Tononi, Brady Riedner, Fabio Ferrarelli, Simone Sarasso
Sleep spindles and slow waves are the main brain oscillations occurring in non-REM sleep. Several lines of evidence suggest that spindles are initiated within the thalamus, whereas slow waves are generated and modulated in the cortex. A decrease in sleep spindle activity has been described in Schizophrenia (SCZ), including chronic, early course, and early onset patients. In contrast, slow waves have been inconsistently found to be reduced in SCZ, possibly due to confounds like duration of illness and antipsychotic medication exposure...
February 9, 2018: NPJ Schizophrenia
https://www.readbyqxmd.com/read/29418021/association-between-serum-hepcidin-level-and-restless-legs-syndrome
#10
Yves Dauvilliers, Sofiene Chenini, Jérôme Vialaret, Constance Delaby, Lily Guiraud, Audrey Gabelle, Regis Lopez, Christophe Hirtz, Isabelle Jaussent, Sylvain Lehmann
BACKGROUND: To better understand the role of iron homeostasis dysregulation in restless legs syndrome, we compared serum hepcidin and ferritin levels in drug-free patients with primary restless legs syndrome and healthy controls and studied the relationship between hepcidin level and restless legs syndrome severity. METHODS: One hundred and eight drug-free patients with primary restless legs syndrome (65 women; median age, 61.5 years) and 45 controls (28 women; median age, 53...
February 8, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29405929/discovery-of-hypocretin-orexin-ushers-in-a-new-era-of-sleep-research
#11
David A Prober
Prior to the 21st century, genetic mechanisms that regulate sleep were largely unknown. In 1998, de Lecea et al. [1] (Proc. Natl. Acad. Sci. U. S. A. 1998; 95:322-327) and Sakurai et al. [2] (Cell 1998; 92: 573-585) reported the discovery of a gene they named hypocretin and orexin, respectively, which led to a revolution in our understanding of genetic and neuronal mechanisms that regulate sleep.
February 2018: Trends in Neurosciences
https://www.readbyqxmd.com/read/29405117/hypocretin-underlies-the-evolution-of-sleep-loss-in-the-mexican-cavefish
#12
James B Jaggard, Bethany A Stahl, Evan Lloyd, David A Prober, Erik R Duboue, Alex C Keene
The duration of sleep varies dramatically between species, yet little is known about the genetic basis or evolutionary factors driving this variation in behavior. The Mexican cavefish, Astyanax mexicanus, exists as surface populations that inhabit rivers, and multiple cave populations with convergent evolution on sleep loss. The number of Hypocretin/Orexin (HCRT)-positive hypothalamic neurons is increased significantly in cavefish, and HCRT is upregulated at both the transcript and protein levels. Pharmacological or genetic inhibition of HCRT signaling increases sleep in cavefish, suggesting enhanced HCRT signaling underlies the evolution of sleep loss...
February 6, 2018: ELife
https://www.readbyqxmd.com/read/29403278/reflex-epilepsy-triggers-and-management-strategies
#13
REVIEW
Zeynep Vildan Okudan, Çiğdem Özkara
Reflex epilepsies (REs) are identified as epileptic seizures that are consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. RE may have different subtypes depending on the stimulus characteristic. There are significant clinical and electrophysiologic differences between different RE types. Visual stimuli-sensitive or photosensitive epilepsies constitute a large proportion of the RE and are mainly related to genetic causes. Reflex epilepsies may present with focal or generalized seizures due to specific triggers, and sometimes seizures may occur spontaneously...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29402935/ventromedial-medulla-inhibitory-neuron-inactivation-induces-rem-sleep-without-atonia-and-rem-sleep-behavior-disorder
#14
Sara Valencia Garcia, Frédéric Brischoux, Olivier Clément, Paul-Antoine Libourel, Sébastien Arthaud, Michael Lazarus, Pierre-Hervé Luppi, Patrice Fort
Despite decades of research, there is a persistent debate regarding the localization of GABA/glycine neurons responsible for hyperpolarizing somatic motoneurons during paradoxical (or REM) sleep (PS), resulting in the loss of muscle tone during this sleep state. Combining complementary neuroanatomical approaches in rats, we first show that these inhibitory neurons are localized within the ventromedial medulla (vmM) rather than within the spinal cord. We then demonstrate their functional role in PS expression through local injections of adeno-associated virus carrying specific short-hairpin RNA in order to chronically impair inhibitory neurotransmission from vmM...
February 5, 2018: Nature Communications
https://www.readbyqxmd.com/read/29402632/prospective-longitudinal-overnight-video-eeg-evaluation-in-phelan-mcdermid-syndrome
#15
Omar I Khan, Xiangping Zhou, Jill Leon, Riley Kessler, Thomas Gaughan, Precilla D'Souza, Andrea Gropman, Ninette Cohen, Owen Rennert, Ashura Buckley, Sara Inati, Audrey Thurm
OBJECTIVE: Phelan-McDermid Syndrome (PMS) is a rare genetic condition associated with loss of function mutations, including deletions, in the chromosome 22q13 region. This PMS phenotype includes intellectual disability, often minimal to absent verbal skills, and other neurologic features including autism spectrum disorder and seizures. Reports indicate seizures and abnormal electroencephalograms (EEGs) in this population, but previous studies do not describe EEG findings during sleep or prognostic value of abnormal EEG over any time period...
February 2, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29398217/excitatory-pathways-from-the-lateral-habenula-enable-propofol-induced-sedation
#16
Cigdem Gelegen, Giulia Miracca, Mingzi Z Ran, Edward C Harding, Zhiwen Ye, Xiao Yu, Kyoko Tossell, Catriona M Houston, Raquel Yustos, Edwin D Hawkins, Alexei L Vyssotski, Hailong L Dong, William Wisden, Nicholas P Franks
The lateral habenula has been widely studied for its contribution in generating reward-related behaviors [1, 2]. We have found that this nucleus plays an unexpected role in the sedative actions of the general anesthetic propofol. The lateral habenula is a glutamatergic, excitatory hub that projects to multiple targets throughout the brain, including GABAergic and aminergic nuclei that control arousal [3-5]. When glutamate release from the lateral habenula in mice was genetically blocked, the ability of propofol to induce sedation was greatly diminished...
January 29, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29397778/the-clinical-characteristics-of-kleine-levin-syndrome-according-to-ethnicity-and-geographic-location
#17
Saad M Al Shareef, Aljohara S Almeneessier, Richard M Smith, Ahmed S BaHammam
PURPOSE: Kleine-Levin syndrome (KLS) is a rare, relapsing-remitting, debilitating sleep disorder. Examining KLS characteristics in different ethnic populations may help elucidate the genetic basis of the disorder. No studies have examined Kleine-Levin syndrome in Arabs. Therefore, we compared the clinical characteristics of Saudi Arabian KLS patients to those in other published cohorts to determine whether Arab patients have a distinct phenotype. METHODS: This study included all patients who were diagnosed with KLS at our center between June 2003 and July 2016 (P=12;6 familial cases)...
February 3, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29395381/time-for-bed-genetic-mechanisms-mediating-the-circadian-regulation-of-sleep
#18
REVIEW
Ian D Blum, Benjamin Bell, Mark N Wu
Sleep is an evolutionarily conserved behavior that is increasingly recognized as important for human health. While its precise function remains controversial, sleep has been suggested to play a key role in a variety of biological phenomena ranging from synaptic plasticity to metabolic clearance. Although it is clear that sleep is regulated by the circadian clock, how this occurs remains enigmatic. Here we examine the genetic mechanisms by which the circadian clock regulates sleep, drawing on recent work in fruit flies, zebrafish, mice, and humans...
January 24, 2018: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/29390364/silent-aspiration-in-infants-with-prader-willi-syndrome-identified-by-videofluoroscopic-swallow-study
#19
Parisa Salehi, Holly J Stafford, Robin P Glass, Anne Leavitt, Anita E Beck, Amber McAfee, Lusine Ambartsumyan, Maida Chen
Feeding intolerance in Prader-Willi syndrome (PWS) infants is well-recognized, but their swallow physiology is not well understood. Swallow dysfunction increases risks of respiratory compromise and choking, which have a high incidence in PWS. To investigate swallow pathology in PWS infants we undertook a retrospective review of videofluoroscopic swallow studies (VFSS) in infants with PWS seen at our institution. We hypothesize that VFSS will characterize swallow pathology suspected by clinical observation during a feeding evaluation and may help determine feeding safety in these infants...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29382362/hypermanganesemia-due-to-mutations-in-slc39a14-further-insights-into-mn-deposition-in-the-central-nervous-system
#20
L Marti-Sanchez, J D Ortigoza-Escobar, A Darling, M Villaronga, H Baide, M Molero-Luis, M Batllori, M I Vanegas, J Muchart, L Aquino, R Artuch, A Macaya, M A Kurian, Pérez Dueñas
BACKGROUND: The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful tools for early recognition of these disorders. We aimed to explore further biomarkers of Mn deposition in the central nervous system in two siblings presenting with acute dystonia and hypermanganesemia due to mutations in SLC39A14. These biomarkers may help clinicians to establish faster and accurate diagnosis and to monitor disease progression after chelation therapy is administered...
January 30, 2018: Orphanet Journal of Rare Diseases
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