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Sleep genomics

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https://www.readbyqxmd.com/read/28520763/genome-wide-gene-expression-array-identifies-novel-genes-related-to-disease-severity-and-excessive-daytime-sleepiness-in-patients-with-obstructive-sleep-apnea
#1
Yung-Che Chen, Kuang-Den Chen, Mao-Chang Su, Chien-Hung Chin, Chung-Jen Chen, Chia-Wei Liou, Ting-Wen Chen, Ya-Chun Chang, Kuo-Tung Huang, Chin-Chou Wang, Ting-Ya Wang, Jen-Chieh Chang, Yong-Yong Lin, Yi-Xin Zheng, Meng-Chih Lin, Chang-Chun Hsiao
We aimed to identify novel molecular associations between chronic intermittent hypoxia with re-oxygenation and adverse consequences in obstructive sleep apnea (OSA). We analyzed gene expression profiles of peripheral blood mononuclear cells from 48 patients with sleep-disordered breathing stratified into four groups: primary snoring (PS), moderate to severe OSA (MSO), very severe OSA (VSO), and very severe OSA patients on long-term continuous positive airway pressure treatment (VSOC). Comparisons of the microarray gene expression data identified eight genes up-regulated with OSA and down-regulated with CPAP treatment, and five genes down-regulated with OSA and up-regulated with CPAP treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28485729/altered-expression-of-histamine-signaling-genes-in-autism-spectrum-disorder
#2
C Wright, J H Shin, A Rajpurohit, A Deep-Soboslay, L Collado-Torres, N J Brandon, T M Hyde, J E Kleinman, A E Jaffe, A J Cross, D R Weinberger
The histaminergic system (HS) has a critical role in cognition, sleep and other behaviors. Although not well studied in autism spectrum disorder (ASD), the HS is implicated in many neurological disorders, some of which share comorbidity with ASD, including Tourette syndrome (TS). Preliminary studies suggest that antagonism of histamine receptors 1-3 reduces symptoms and specific behaviors in ASD patients and relevant animal models. In addition, the HS mediates neuroinflammation, which may be heightened in ASD...
May 9, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28450726/effect-of-drd4-receptor-616-c-g-polymorphism-on-brain-structure-and-functional-connectivity-density-in-pediatric-primary-nocturnal-enuresis-patients
#3
Bing Yu, Na Chang, Yao Lu, Hongwei Ma, Na Liu, Qiyong Guo
The dopamine D4 receptor (DRD4) promoter (-616; rs747302) has been associated with primary nocturnal enuresis (PNE); however, its relationship with neuroimaging has not been investigated. Therefore, we assessed the effects of the DRD4 -616 C/G single nucleotide polymorphism on the gray matter volume (GMV) and functional connectivity density (FCD) during resting-state functional magnetic resonance imaging in children with PNE using voxel-based morphometry and FCD methods. Genomic and imaging data were obtained from 97 children with PNE and 105 healthy controls...
April 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28450367/atrial-fibrillation-epidemiology-pathophysiology-and-clinical-outcomes
#4
REVIEW
Laila Staerk, Jason A Sherer, Darae Ko, Emelia J Benjamin, Robert H Helm
The past 3 decades have been characterized by an exponential growth in knowledge and advances in the clinical treatment of atrial fibrillation (AF). It is now known that AF genesis requires a vulnerable atrial substrate and that the formation and composition of this substrate may vary depending on comorbid conditions, genetics, sex, and other factors. Population-based studies have identified numerous factors that modify the atrial substrate and increase AF susceptibility. To date, genetic studies have reported 17 independent signals for AF at 14 genomic regions...
April 28, 2017: Circulation Research
https://www.readbyqxmd.com/read/28445233/preclinical-models-for-translational-sarcoma-research
#5
Rainer Hamacher, Sebastian Bauer
PURPOSE OF REVIEW: Sarcoma is a basket term for mesenchymal tumors for which more than 75 genetically and histologically distinct subtypes are recognized. Therapeutic progress has largely been achieved with classical chemotherapeutic drugs that were tested in empirical clinical trials. However, outcome in metastatic patients remains poor and with few exceptions numerous trials have failed or only provided limited improvement in recent years. RECENT FINDINGS: Given the genomic heterogeneity, preclinical model systems will be indispensable to identify new molecular targets and to prioritize drugs and drug combinations...
April 25, 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28444394/tissue-specific-dissociation-of-diurnal-transcriptome-rhythms-during-sleep-restriction-in-mice
#6
Jana Husse, Jana-Thabea Kiehn, Johanna L Barclay, Nadine Naujokat, Judit Meyer-Kovac, Hendrik Lehnert, Henrik Oster
Study objectives: Shortened or mistimed sleep affects metabolic homeostasis, which may in part be mediated by dysregulation of endogenous circadian clocks. In this study, we assessed the contribution of sleep disruption to metabolic dysregulation by analysing diurnal transcriptome regulation in metabolic tissues of mice subjected to a sleep restriction paradigm. Methods: Male mice were subjected to 2x5 days of sleep restriction (SR) with enforced waking during the first six hours of the light phase...
April 24, 2017: Sleep
https://www.readbyqxmd.com/read/28424564/new-developments-in-the-management-of-narcolepsy
#7
REVIEW
Vivien C Abad, Christian Guilleminault
Narcolepsy is a life-long, underrecognized sleep disorder that affects 0.02%-0.18% of the US and Western European populations. Genetic predisposition is suspected because of narcolepsy's strong association with HLA DQB1*06-02, and genome-wide association studies have identified polymorphisms in T-cell receptor loci. Narcolepsy pathophysiology is linked to loss of signaling by hypocretin-producing neurons; an autoimmune etiology possibly triggered by some environmental agent may precipitate hypocretin neuronal loss...
2017: Nature and Science of Sleep
https://www.readbyqxmd.com/read/28409245/snca-3-utr-genetic-variants-in-patients-with-parkinson-s-disease-and-rem-sleep-behavior-disorder
#8
M Toffoli, E Dreussi, E Cecchin, M Valente, N Sanvilli, M Montico, S Gagno, M Garziera, M Polano, M Savarese, G Calandra-Buonaura, F Placidi, M Terzaghi, G Toffoli, G L Gigli
REM sleep behavior disorder (RBD) is an early marker of Parkinson's disease (PD); however, it is still unclear which patients with RBD will eventually develop PD. Single nucleotide polymorphisms (SNPs) in the 3'untranslated region (3'UTR) of alpha-synuclein (SNCA) have been associated with PD, but at present, no data is available about RBD. The 3'UTR hosts regulatory regions involved in gene expression control, such as microRNA binding sites. The aim of this study was to determine RBD specific genetic features associated to an increased risk of progression to PD, by sequencing of the SNCA-3'UTR in patients with "idiopathic" RBD (iRBD) and in patients with PD...
April 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28402189/going-non-viral-the-sleeping-beauty-transposon-system-breaks-on-through-to-the-clinical-side
#9
Michael Hudecek, Zsuzsanna Izsvák, Sandra Johnen, Matthias Renner, Gabriele Thumann, Zoltán Ivics
Molecular medicine has entered a high-tech age that provides curative treatments of complex genetic diseases through genetically engineered cellular medicinal products. Their clinical implementation requires the ability to stably integrate genetic information through gene transfer vectors in a safe, effective and economically viable manner. The latest generation of Sleeping Beauty (SB) transposon vectors fulfills these requirements, and may overcome limitations associated with viral gene transfer vectors and transient non-viral gene delivery approaches that are prevalent in ongoing pre-clinical and translational research...
April 12, 2017: Critical Reviews in Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28395871/a-circadian-genomic-signature-common-to-ketamine-and-sleep-deprivation-in-the-anterior-cingulate-cortex
#10
Ricardo Orozco-Solis, Emilie Montellier, Lorena Aguilar-Arnal, Shogo Sato, Marquis P Vawter, Blynn G Bunney, William E Bunney, Paolo Sassone-Corsi
BACKGROUND: Conventional antidepressants usually require several weeks to achieve a full clinical response in patients with major depressive disorder, an illness associated with dysregulated circadian rhythms and a high incidence of suicidality. Two rapid-acting antidepressant strategies, low-dose ketamine (KT) and sleep deprivation (SD) therapies, dramatically reduce depressive symptoms within 24 hours in a subset of major depressive disorder patients. However, it is unknown whether they exert their actions through shared regulatory mechanisms...
March 1, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28393090/gender-specific-hippocampal-whole-genome-transcriptome-data-from-mice-lacking-the-cav2-3-r-type-or-cav3-2-t-type-voltage-gated-calcium-channel
#11
Anna Papazoglou, Christina Henseler, Andreas Lundt, Carola Wormuth, Julien Soos, Karl Broich, Dan Ehninger, Marco Weiergräber
Voltage-gated Ca(2+) channels are of central relevance in mediating numerous intracellular and transcellular processes including excitation-contraction coupling, excitation secretion-coupling, hormone and neurotransmitter release and gene expression. The Cav2.3 R-type Ca(2+) channel is a high-voltage activated channel which plays a crucial role in neurotransmitter release, long-term potentiation and hormone release. Furthermore, Cav2.3 R-type channels were reported to be involved in ictogenesis, epileptogenesis, fear behavior, sleep, pre-and postsynaptic integration and rhythmicity within the hippocampus...
June 2017: Data in Brief
https://www.readbyqxmd.com/read/28370132/infant-sudden-death-mutations-responsible-for-impaired-nav1-5-channel-trafficking-and-function
#12
Ivan Gando, Jace Morganstein, Kundan Jana, Thomas V McDonald, Yingying Tang, William A Coetzee
BACKGROUND: Two genetic variants in SCN5A, encoding the Nav1.5 Na(+) channel α-subunit, were found in a five month-old girl who died suddenly in her sleep. The first variant is a missense mutation, resulting in an amino acid change (Q1832E), which has been described (but not characterized) in a patient with Brugada syndrome. The second is a nonsense mutation that produces a premature stop codon and a C-terminal truncation (R1944Δ). METHODS AND RESULTS: To investigate their functional relevance with patch clamp experiments in transfected HEK293 cells...
March 31, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28364486/genetic-basis-of-chronotype-in-humans-insights-from-three-landmark-gwas
#13
David A Kalmbach, Logan D Schneider, Joseph Cheung, Sarah J Bertrand, Thiruchelvam Kariharan, Allan I Pack, Philip R Gehrman
Study Objectives: Chronotype, or diurnal preference, refers to behavioral manifestations of the endogenous circadian system that governs preferred timing of sleep and wake. As variations in circadian timing and system perturbations are linked to disease development, the fundamental biology of chronotype has received attention for its role in the regulation and dysregulation of sleep and related illnesses. Family studies indicate that chronotype is a heritable trait, thus directing attention toward its genetic basis...
February 1, 2017: Sleep
https://www.readbyqxmd.com/read/28364478/common-genetic-variation-near-melatonin-receptor-1a-gene-linked-to-job-related-exhaustion-in-shift-workers
#14
Sonja Sulkava, Hanna M Ollila, Jukka Alasaari, Sampsa Puttonen, Mikko Härmä, Katriina Viitasalo, Alexandra Lahtinen, Jaana Lindström, Auli Toivola, Raimo Sulkava, Mika Kivimäki, Jussi Vahtera, Timo Partonen, Kaisa Silander, Tarja Porkka-Heiskanen, Tiina Paunio
Study Objectives: Tolerance to shift work varies; only some shift workers suffer from disturbed sleep, fatigue, and job-related exhaustion. Our aim was to explore molecular genetic risk factors for intolerance to shift work. Methods: We assessed intolerance to shift work with job-related exhaustion symptoms in shift workers using the emotional exhaustion subscale of the Maslach Burnout Inventory-General Survey, and carried out a genome-wide association study (GWAS) using Illumina's Human610-Quad BeadChip (n = 176)...
January 1, 2017: Sleep
https://www.readbyqxmd.com/read/28364455/cntnap2-knockout-rats-and-mice-exhibit-epileptiform-activity-and-abnormal-sleep-wake-physiology
#15
Alexia M Thomas, Michael D Schwartz, Michael D Saxe, Thomas S Kilduff
Study Objectives: Although recent innovations have enabled modification of the rat genome, it is unclear whether enhanced utility of rodents as human disease models will result. We compared electroencephalogram (EEG) and behavioral phenotypes of rats and mice with homozygous deletion of Cntnap2, a gene associated with cortical dysplasia-focal epilepsy (CDFE) and autism spectrum disorders (ASD). Methods: Male contactin-associated protein-like 2 (Cntnap2) knockout (KO) and wild-type (WT) rats and male Cntnap2 KO and WT mice were implanted with telemeters to record EEG, electromyogram, body temperature, and locomotor activity...
January 1, 2017: Sleep
https://www.readbyqxmd.com/read/28347470/genomics-and-sleep-disorders
#16
EDITORIAL
James R Hupp
No abstract text is available yet for this article.
April 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28334017/genome-wide-rnai-selection-identifies-a-regulator-of-transmission-stage-enriched-gene-families-and-cell-type-differentiation-in-trypanosoma-brucei
#17
Eva Rico, Alasdair Ivens, Lucy Glover, David Horn, Keith R Matthews
Trypanosoma brucei, causing African sleeping-sickness, exploits quorum-sensing (QS) to generate the 'stumpy forms' necessary for the parasite's transmission to tsetse-flies. These quiescent cells are generated by differentiation in the bloodstream from proliferative slender forms. Using genome-wide RNAi selection we screened for repressors of transmission stage-enriched mRNAs in slender forms, using the stumpy-elevated ESAG9 transcript as a model. This identified REG9.1, whose RNAi-silencing alleviated ESAG9 repression in slender forms and tsetse-midgut procyclic forms...
March 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28329071/association-of-mild-obstructive-sleep-apnea-with-cognitive-performance-excessive-daytime-sleepiness-and-quality-of-life-in-the-general-population-the-korean-genome-and-epidemiology-study-koges
#18
Hyun Kim, Robert J Thomas, Chang-Ho Yun, Rhoda Au, Seung Ku Lee, Sunghee Lee, Chol Shin
Study Objectives: Research points to impaired cognitive performance in sleep clinic patients with obstructive sleep apnea (OSA). However, inconsistent findings from various epidemiologic studies make this relationship less generalizable. The current study investigated the association between OSA and functional outcome measures, such as cognition, daytime sleepiness, and quality of life, in a Korean general population sample. Methods: A total of 1492 participants from the Korean Genome and Epidemiology Study (KoGES) were included in the analyses...
May 1, 2017: Sleep
https://www.readbyqxmd.com/read/28325297/engineering-of-pedf-expressing-primary-pigment-epithelial-cells-by-the-sb-transposon-system-delivered-by-pfar4-plasmids
#19
Gabriele Thumann, Nina Harmening, Cécile Prat-Souteyrand, Corinne Marie, Marie Pastor, Attila Sebe, Csaba Miskey, Laurence D Hurst, Sabine Diarra, Martina Kropp, Peter Walter, Daniel Scherman, Zoltán Ivics, Zsuzsanna Izsvák, Sandra Johnen
Neovascular age-related macular degeneration (nvAMD) is characterized by choroidal blood vessels growing into the subretinal space, leading to retinal pigment epithelial (RPE) cell degeneration and vision loss. Vessel growth results from an imbalance of pro-angiogenic (e.g., vascular endothelial growth factor [VEGF]) and anti-angiogenic factors (e.g., pigment epithelium-derived factor [PEDF]). Current treatment using intravitreal injections of anti-VEGF antibodies improves vision in about 30% of patients but may be accompanied by side effects and non-compliance...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28319090/a-single-copy-sleeping-beauty-transposon-mutagenesis-screen-identifies-new-pten-cooperating-tumor-suppressor-genes
#20
Jorge de la Rosa, Julia Weber, Mathias Josef Friedrich, Yilong Li, Lena Rad, Hannes Ponstingl, Qi Liang, Sandra Bernaldo de Quirós, Imran Noorani, Emmanouil Metzakopian, Alexander Strong, Meng Amy Li, Aurora Astudillo, María Teresa Fernández-García, María Soledad Fernández-García, Gary J Hoffman, Rocío Fuente, George S Vassiliou, Roland Rad, Carlos López-Otín, Allan Bradley, Juan Cadiñanos
The overwhelming number of genetic alterations identified through cancer genome sequencing requires complementary approaches to interpret their significance and interactions. Here we developed a novel whole-body insertional mutagenesis screen in mice, which was designed for the discovery of Pten-cooperating tumor suppressors. Toward this aim, we coupled mobilization of a single-copy inactivating Sleeping Beauty transposon to Pten disruption within the same genome. The analysis of 278 transposition-induced prostate, breast and skin tumors detected tissue-specific and shared data sets of known and candidate genes involved in cancer...
May 2017: Nature Genetics
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