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Sleep genomics

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https://www.readbyqxmd.com/read/28207497/concurrent-presence-of-inflammation-and-obstructive-sleep-apnea-exacerbates-the-risk-of-metabolic-syndrome-a-koges-6-year-follow-up-study
#1
Jinkwan Kim, Dae Wui Yoon, Seung Ku Lee, Seunggwan Lee, Kyung-Mee Choi, Thomas J Robert, Chol Shin
Obstructive sleep apnea (OSA) leads to multiple end-organ morbidities that are mediated by the cumulative burden of oxidative stress and inflammation. Both OSA and inflammation play key roles in increased risk of cardiovascular disease (CVD). Thus, we hypothesized that the combination of inflammation and OSA could accelerate the development of metabolic syndrome (MetS) in a large cohort study.A total of 1835 participants were randomly selected from the ongoing Korean Genome and Epidemiology Study for the years between 2007 and 2015...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28192891/sleep-duration-and-chronic-kidney-disease-the-korean-genome-and-epidemiology-study-koges-kangwha-study
#2
Hansol Choi, Hyeon Chang Kim, Joo Young Lee, Ju-Mi Lee, Dong Phil Choi, Il Suh
Background/Aims: Sleep duration affects health in various ways. The objective of this study was to investigate the associations of sleep duration with chronic kidney disease (CKD) in a Korean adult population. Methods: This cross-sectional analysis was conducted for total of 1,360 participants who completed baseline health examinations for the Korean Genome and Epidemiology Study-Kangwha study in 2010 to 2011. Sleep habits were measured by an interviewer-assisted questionnaire...
February 15, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28155201/dad-s-snoring-may-have-left-molecular-scars-in-your-dna-the-emerging-role-of-epigenetics-in-sleep-disorders
#3
REVIEW
Daniela Morales-Lara, Clelia De-la-Peña, Eric Murillo-Rodríguez
The sleep-wake cycle is a biological phenomena under the orchestration of neurophysiological, neurochemical, neuroanatomical, and genetical mechanisms. Moreover, homeostatic and circadian processes participate in the regulation of sleep across the light-dark period. Further complexity of the understanding of the genesis of sleep engages disturbances which have been characterized and classified in a variety of sleep-wake cycle disorders. The most prominent sleep alterations include insomnia as well as excessive daytime sleepiness...
February 2, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28141710/the-curse-of-the-dolphins-cognitive-decline-and-psychosis
#4
Randall Phelps, Anne Tsai, Arlene Hagen, Joseph Pinter, Raegan Smith, Martin T Stein
Isela is an 11-year-old Mexican-American girl with mild intellectual disability. During a vacation with her family, she went swimming with dolphins. A few days later, Isela awoke at night with laughing spells; during the day, she was pacing, aggressive, and had a decline in self-care and communication skills. Her parents attributed the symptoms to the dolphins. She was evaluated by a pediatric neurologist. The sleep-deprived electroencephalogram, brain magnetic resonance imaging, lumbar puncture, and thyroid function tests were normal...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28138343/first-draft-genome-sequence-of-the-dourine-causative-agent-trypanosoma-equiperdum-strain-ovi
#5
Laurent Hébert, Bouziane Moumen, Anthony Madeline, Sascha Steinbiss, Latifa Lakhdar, Nick Van Reet, Philippe Büscher, Claire Laugier, Julien Cauchard, Sandrine Petry
Trypanosoma equiperdum is the causative agent of dourine, a sexually-transmitted infection of horses. This parasite belongs to the subgenus Trypanozoon that also includes the agent of sleeping sickness (Trypanosoma brucei) and surra (Trypanosoma evansi). We herein report the genome sequence of a T. equiperdum strain OVI, isolated from a horse in South-Africa in 1976. This is the first genome sequence of the T. equiperdum species, and its availability will provide important insights for future studies on genetic classification of the subgenus Trypanozoon...
2017: Journal of Genomics
https://www.readbyqxmd.com/read/28135585/genome-wide-profiling-reveals-remarkable-parallels-between-insertion-site-selection-properties-of-the-mlv-retrovirus-and-the-piggybac-transposon-in-primary-human-cd4-t-cells
#6
Andreas Gogol-Döring, Ismahen Ammar, Saumyashree Gupta, Mario Bunse, Csaba Miskey, Wei Chen, Wolfgang Uckert, Thomas F Schulz, Zsuzsanna Izsvák, Zoltán Ivics
The inherent risks associated with vector insertion in gene therapy need to be carefully assessed. We analyzed the genome-wide distributions of Sleeping Beauty (SB) and piggyBac (PB) transposon insertions as well as MLV retrovirus and HIV lentivirus insertions in human CD4(+) T cells with respect to a panel of 40 chromatin states. The distribution of SB transposon insertions displayed the least deviation from random, while the PB transposon and the MLV retrovirus showed unexpected parallels across all chromatin states...
March 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28115300/research-progress-of-tc1-mariner-superfamily
#7
Shen Dan, Chen Cai, Wang Saisai, Chen Wei, Gao Bo, Song Chengyi
With the rapid improvement of sequencing techniques, more and more genome annotations reveal the transposons are the important components of most genomes and present on almost all organisms. Among them, the Tc1/Mariner superfamily represents the most widespread DNA transposons. Until now, fourteen active Tc1/Mariner transposons (Minos, Mos1, etc.) have been identified and some highly active artificial transposons have been created through molecular reconstruction, such as Sleeping Beauty (SB). The transposons such as SB and Mos1 have been widely used as gene transfer vectors in the fields of transgenosis, gene trapping and gene therapy...
January 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28111420/a-follow-up-study-of-the-association-between-mobile-phone-use-and-symptoms-of-ill-health
#8
Yong Min Cho, Hee Jin Lim, Hoon Jang, Kyunghee Kim, Jae Wook Choi, Chol Shin, Seung Ku Lee, Jong Hwa Kwon, Nam Kim
The duration and frequency of mobile phone calls, and their relationship with various health effects, have been investigated in our previous cross-sectional study. This 2-year period follow-up study aimed to assess the changes in these variables of same subjects. The study population comprised 532 non-patient adult subjects sampled from the Korean Genome Epidemiology Study. The subjects underwent a medical examination at a hospital in 2012/2013 and revisited the same hospital in 2014/2015 to have the same examination for the characteristics of mobile phone use performed...
2016: Environmental Health and Toxicology
https://www.readbyqxmd.com/read/28109725/6q12-and-11p14-variants-are-associated-with-postnatal-exhaled-nitric-oxide-levels-and-respiratory-symptoms
#9
Oliver Fuchs, Olga Gorlanova, Philipp Latzin, Anne Schmidt, Maximilian Schieck, Antoaneta A Toncheva, Sven Michel, Vincent D Gaertner, Michael Kabesch, Urs Frey
BACKGROUND: Exhaled nitric oxide (eNO) is a biomarker of airway inflammation and seems to precede respiratory symptoms, such as asthma, in childhood. Identifying genetic determinants of postnatal eNO levels might aid in unraveling the role of eNO in epithelial function or airway inflammation and disease. OBJECTIVE: We sought to identify genetic determinants of early postnatal eNO levels and subsequent respiratory symptoms during the first year of life. METHODS: Within a population-based birth cohort, eNO levels were measured in healthy term infants aged 5 weeks during quiet tidal breathing in unsedated sleep...
January 19, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28107884/the-association-between-irritable-bowel-syndrome-and-the-coexistence-of-depression-and-insomnia
#10
Seung Ku Lee, Dae Wui Yoon, Sunghee Lee, Jinkwan Kim, Kyung-Mee Choi, Chol Shin
OBJECTIVE: The individual occurrence of depression or insomnia is a risk factor for irritable bowel syndrome (IBS), but few researchers have evaluated the association between comorbid depression and insomnia and IBS. The aim of the present study is to explore the relationship between IBS and the coexistence of depression and insomnia in a Korean population-based cohort study. METHODS: A total of 3429 individuals who were enrolled in the Korean Genome and Epidemiology Study were analysed...
February 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28102151/pleiotropic-genetic-effects-influencing-sleep-and-neurological-disorders
#11
REVIEW
Olivia J Veatch, Brendan T Keenan, Philip R Gehrman, Beth A Malow, Allan I Pack
Research evidence increasingly points to the large impact of sleep disturbances on public health. Many aspects of sleep are heritable and genes influencing traits such as timing, EEG characteristics, sleep duration, and response to sleep loss have been identified. Notably, large-scale genome-wide analyses have implicated numerous genes with small effects on sleep timing. Additionally, there has been considerable progress in the identification of genes influencing risk for some neurological sleep disorders. For restless legs syndrome, implicated variants are typically in genes associated with neuronal development...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28100473/delineating-the-phenotypic-spectrum-of-bainbridge-ropers-syndrome-12-new-patients-with-de-novo-heterozygous-loss-of-function-mutations-in-asxl3-and-review-of-published-literature
#12
M Balasubramanian, J Willoughby, A E Fry, A Weber, H V Firth, C Deshpande, J N Berg, K Chandler, K A Metcalfe, W Lam, D Pilz, S Tomkins
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients. OBJECTIVES: Here, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmental Disorders study. METHODS: Trio-based exome sequencing was performed on all 12 patients included in this study, which found a de novo truncating mutation in ASXL3...
January 18, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28096882/design-and-methods-of-the-mood-disorder-cohort-research-consortium-mdcrc-study
#13
Chul-Hyun Cho, Yong-Min Ahn, Se Joo Kim, Tae Hyun Ha, Hong Jin Jeon, Boseok Cha, Eunsoo Moon, Dong Yeon Park, Ji Hyun Baek, Hee-Ju Kang, Vin Ryu, Hyonggin An, Heon-Jeong Lee
The Mood Disorder Cohort Research Consortium (MDCRC) study is designed as a naturalistic observational prospective cohort study for early-onset mood disorders (major depressive disorders, bipolar disorders type 1 and 2) in South Korea. The study subjects consist of two populations: 1) patients with mood disorders under 25 years old and 2) patients with mood disorders within 2 years of treatment under 35 years old. After successful screening, the subjects are evaluated using baseline assessments and serial follow-up assessments at 3-month intervals...
January 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28089652/hippocampal-prefrontal-connectivity-as-a-translational-phenotype-for-schizophrenia
#14
REVIEW
Florian Bähner, Andreas Meyer-Lindenberg
Finding novel biological targets in psychiatry has been difficult, partly because current diagnostic categories are not defined by pathophysiology and difficult to model in animals. The study of species-conserved systems-level mechanisms implicated in psychiatric disease could be a promising strategy to address some of these difficulties. Altered hippocampal-prefrontal (HC-PFC) connectivity during working memory (WM) processing is a candidate for such a translational phenotype as it has been repeatedly associated with impaired cognition in schizophrenia patients and animal models for psychiatric risk factors...
February 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28081459/targeted-delivery-of-in-situ-pcr-amplified-sleeping-beauty-transposon-genes-to-cancer-cells-with-lipid-based-nanoparticle-like-protocells
#15
Kun Ma, Duo Fu, Dongli Yu, Changhao Cui, Li Wang, Zhaoming Guo, Chuanbin Mao
A Sleeping Beauty (SB) transposon system is made of a transposon plasmid (containing gene encoding a desired functional or therapeutic protein) and a transposase plasmid (encoding an enzyme capable of cutting and pasting the gene into the host cell genome). It is a kind of natural, nonviral gene delivery vehicle, which can achieve efficient genomic insertion, providing long-term transgenic expression. However, before the SB transposon system could play a role in promoting gene expression, it has to be delivered efficiently first across cell membrane and then into cell nuclei...
March 2017: Biomaterials
https://www.readbyqxmd.com/read/28079877/genome-wide-transposon-screening-and-quantitative-insertion-site-sequencing-for-cancer-gene-discovery-in-mice
#16
Mathias J Friedrich, Lena Rad, Iraad F Bronner, Alexander Strong, Wei Wang, Julia Weber, Matthew Mayho, Hannes Ponstingl, Thomas Engleitner, Carolyn Grove, Anja Pfaus, Dieter Saur, Juan Cadiñanos, Michael A Quail, George S Vassiliou, Pentao Liu, Allan Bradley, Roland Rad
Transposon-mediated forward genetics screening in mice has emerged as a powerful tool for cancer gene discovery. It pinpoints cancer drivers that are difficult to find with other approaches, thus complementing the sequencing-based census of human cancer genes. We describe here a large series of mouse lines for insertional mutagenesis that are compatible with two transposon systems, PiggyBac and Sleeping Beauty, and give guidance on the use of different engineered transposon variants for constitutive or tissue-specific cancer gene discovery screening...
February 2017: Nature Protocols
https://www.readbyqxmd.com/read/28076377/comparative-analysis-of-vertebrate-diurnal-circadian-transcriptomes
#17
Greg Boyle, Kerstin Richter, Henry D Priest, David Traver, Todd C Mockler, Jeffrey T Chang, Steve A Kay, Ghislain Breton
From photosynthetic bacteria to mammals, the circadian clock evolved to track diurnal rhythms and enable organisms to anticipate daily recurring changes such as temperature and light. It orchestrates a broad spectrum of physiology such as the sleep/wake and eating/fasting cycles. While we have made tremendous advances in our understanding of the molecular details of the circadian clock mechanism and how it is synchronized with the environment, we still have rudimentary knowledge regarding its connection to help regulate diurnal physiology...
2017: PloS One
https://www.readbyqxmd.com/read/28057021/treatment-of-intermittent-hypoxia-increases-phosphorylated-tau-in-the-hippocampus-via-biological-processes-common-to-aging
#18
Sosuke Yagishita, Seiya Suzuki, Keisuke Yoshikawa, Keiko Iida, Ayako Hirata, Masahiko Suzuki, Akihiko Takashima, Kei Maruyama, Akira Hirasawa, Takeo Awaji
Sleep-disordered breathing produces cognitive impairments, and is possibly associated with Alzheimer disease (AD). Intermittent hypoxia treatment (IHT), an experimental model for sleep-disordered breathing, results in cognitive impairments in animals via unknown mechanisms. Here, we exposed mice to IHT protocols, and performed biochemical analyses and microarray analyses regarding their hippocampal samples. In particular, we performed gene ontology (GO)-based microarray analysis to elucidate effects of IHT on hippocampal functioning, which were compared with the effects of various previously-reported experimental conditions on that (ref...
January 5, 2017: Molecular Brain
https://www.readbyqxmd.com/read/27992416/genome-wide-association-analyses-of-sleep-disturbance-traits-identify-new-loci-and-highlight-shared-genetics-with-neuropsychiatric-and-metabolic-traits
#19
Jacqueline M Lane, Jingjing Liang, Irma Vlasac, Simon G Anderson, David A Bechtold, Jack Bowden, Richard Emsley, Shubhroz Gill, Max A Little, Annemarie I Luik, Andrew Loudon, Frank A J L Scheer, Shaun M Purcell, Simon D Kyle, Deborah A Lawlor, Xiaofeng Zhu, Susan Redline, David W Ray, Martin K Rutter, Richa Saxena
Chronic sleep disturbances, associated with cardiometabolic diseases, psychiatric disorders and all-cause mortality, affect 25-30% of adults worldwide. Although environmental factors contribute substantially to self-reported habitual sleep duration and disruption, these traits are heritable and identification of the genes involved should improve understanding of sleep, mechanisms linking sleep to disease and development of new therapies. We report single- and multiple-trait genome-wide association analyses of self-reported sleep duration, insomnia symptoms and excessive daytime sleepiness in the UK Biobank (n = 112,586)...
December 19, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27923372/community-acquired-meningitis-caused-by-a-cg86-hypervirulent-klebsiella-pneumoniae-strain-first-case-report-in-the-caribbean
#20
Bénédicte Melot, Sylvain Brisse, Sébastien Breurec, Virginie Passet, Edith Malpote, Isabelle Lamaury, Guillaume Thiery, Bruno Hoen
BACKGROUND: Community-acquired bacterial meningitis due to Klebsiella pneumoniae has mainly been described in Southeast Asia and has a poor prognosis. Severe invasive infections caused by K. pneumoniae, including meningitis, are often due to hypervirulent strains (hvKP), which are characterized by capsular serotypes K1 and K2, a gene responsible for hypermucoviscosity, and the cluster for synthesis of the siderophore aerobactin. CASE PRESENTATION: A 55 year old man with a history of essential hypertension, benign prostate hyperplasia, hyperlipidemia, obstructive sleep apnea, and chronic alcoholism was admitted for meningitis due to Klebsiella pneumoniae with a wild-type susceptibility profile...
December 7, 2016: BMC Infectious Diseases
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