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Sleep genomics

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https://www.readbyqxmd.com/read/28620071/multiancestry-study-of-gene-lifestyle-interactions-for-cardiovascular-traits-in-610-475-individuals-from-124-cohorts-design-and-rationale
#1
D C Rao, Yun J Sung, Thomas W Winkler, Karen Schwander, Ingrid Borecki, L Adrienne Cupples, W James Gauderman, Kenneth Rice, Patricia B Munroe, Bruce M Psaty
BACKGROUND: Several consortia have pursued genome-wide association studies for identifying novel genetic loci for blood pressure, lipids, hypertension, etc. They demonstrated the power of collaborative research through meta-analysis of study-specific results. METHODS AND RESULTS: The Gene-Lifestyle Interactions Working Group was formed to facilitate the first large, concerted, multiancestry study to systematically evaluate gene-lifestyle interactions. In stage 1, genome-wide interaction analysis is performed in 53 cohorts with a total of 149 684 individuals from multiple ancestries...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28584132/transposon-mutagenesis-identifies-chromatin-modifiers-cooperating-with-ras-in-thyroid-tumorigenesis-and-detects-atxn7-as-a-cancer-gene
#2
Cristina Montero-Conde, Luis J Leandro-Garcia, Xu Chen, Gisele Oler, Sergio Ruiz-Llorente, Mabel Ryder, Iñigo Landa, Francisco Sanchez-Vega, Konnor La, Ronald A Ghossein, Dean F Bajorin, Jeffrey A Knauf, Jesse D Riordan, Adam J Dupuy, James A Fagin
Oncogenic RAS mutations are present in 15-30% of thyroid carcinomas. Endogenous expression of mutant Ras is insufficient to initiate thyroid tumorigenesis in murine models, indicating that additional genetic alterations are required. We used Sleeping Beauty (SB) transposon mutagenesis to identify events that cooperate with Hras(G12V) in thyroid tumor development. Random genomic integration of SB transposons primarily generated loss-of-function events that significantly increased thyroid tumor penetrance in Tpo-Cre/homozygous FR-Hras(G12V) mice...
June 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28575287/an-essential-domain-of-an-early-diverged-rna-polymerase-ii-functions-to-accurately-decode-a-primitive-chromatin-landscape
#3
Anish Das, Mahrukh Banday, Michael A Fisher, Yun-Juan Chang, Jeffrey Rosenfeld, Vivian Bellofatto
A unique feature of RNA polymerase II (RNA pol II) is its long C-terminal extension, called the carboxy-terminal domain (CTD). The well-studied eukaryotes possess a tandemly repeated 7-amino-acid sequence, called the canonical CTD, which orchestrates various steps in mRNA synthesis. Many eukaryotes possess a CTD devoid of repeats, appropriately called a non-canonical CTD, which performs completely unknown functions. Trypanosoma brucei, the etiologic agent of African Sleeping Sickness, deploys an RNA pol II that contains a non-canonical CTD to accomplish an unusual transcriptional program; all protein-coding genes are transcribed as part of a polygenic precursor mRNA (pre-mRNA) that is initiated within a several-kilobase-long region, called the transcription start site (TSS), which is upstream of the first protein-coding gene in the polygenic array...
May 26, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28574926/hyposmia-symptoms-of-rapid-eye-movement-sleep-behavior-disorder-and-parkinsonian-motor-signs-suggest-prodromal-neurodegeneration-in-22q11-deletion-syndrome
#4
Ellen Buckley, Azeem Siddique, Alisdair McNeill
The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans. There is an increased risk of Parkinson's disease (PD) in individuals with 22q11DS. The characteristic motor features of PD begin when more than 50% of dopaminergic neurons in the substantia nigra have degenerated. Before this, there is a prodromal period, of up to 20 years, in which nonmotor features such as hyposmia, autonomic dysfunction, rapid eye movement sleep behavior disorder, and subtle motor dysfunction can occur...
June 1, 2017: Neuroreport
https://www.readbyqxmd.com/read/28550245/amyloid-burden-in-obstructive-sleep%C3%A2-apnea
#5
Chang-Ho Yun, Ho-Young Lee, Seung Ku Lee, Hyun Kim, Hyung Suk Seo, Seong Ae Bang, Sang Eun Kim, Douglas N Greve, Rhoda Au, Chol Shin, Robert J Thomas
To test the hypothesis that excessive amyloid deposition is a biological link between obstructive sleep apnea (OSA) and Alzheimer's disease, we determined whether OSA increases cerebral amyloid burden, relative to controls, using Pittsburgh Compound B (PiB) PET imaging. The subjects were adult participants (age 50-65 years) from the Korean Genome and Epidemiology Study. Polysomnography, brain MRI including 3D images, and a detailed neuro-cognitive function test battery were done in 2011-2012. Nineteen OSA subjects (Apnea-Hypopnea Index [AHI] ≥15/h, 21...
May 26, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550012/the-genetic-architecture-of-ovariole-number-in-drosophila-melanogaster-genes-with-major-quantitative-and-pleiotropic-effects
#6
Amanda S Lobell, Rachel R Kaspari, Yazmin L Serrano Negron, Susan T Harbison
Ovariole number has a direct role in the number of eggs produced by an insect, suggesting that it is a key morphological fitness trait. Many studies have documented the variability of ovariole number and its relationship to other fitness and life-history traits in natural populations of Drosophila However, the genes contributing to this variability are largely unknown. Here we conducted a genome-wide association study of ovariole number in a natural population of flies. Using mutations and RNAi-mediated knockdown, we confirmed the effects of twenty-four candidate genes on ovariole number, including a novel gene, anneboleyn (formerly CG32000), that impacts both ovariole morphology and numbers of offspring produced...
May 26, 2017: G3: Genes—Genomes—Genetics
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
#7
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
#8
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
#9
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
#10
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
#11
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...
July 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28444394/tissue-specific-dissociation-of-diurnal-transcriptome-rhythms-during-sleep-restriction-in-mice
#12
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 (SR) paradigm. Methods: Male mice were subjected to 2 × 5 days of SR with enforced waking during the first 6 hours of the light phase...
June 1, 2017: Sleep
https://www.readbyqxmd.com/read/28424564/new-developments-in-the-management-of-narcolepsy
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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 5-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 HEK-293 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
#19
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
#20
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
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