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Sleep genomics

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https://www.readbyqxmd.com/read/29651721/the-correlation-between-growth-hormone-receptor-ghr-polymorphism-and-obstructive-sleep-apnea-syndrome-among-the-han-and-hani-population-in-china
#1
Juanjuan Ji, Yunwei Yang, Yan Lin, Xudong Li, Xiaoguang Wu, Xi Yang, Ling Zhong, Ying Tang, Zhiyong Huang, Xiaoguang He
Obstructive sleep apnea syndrome (OSAS) is a common health problem that is associated with abnormality in craniofacial morphology. The growth hormone receptor (GHR) belongs to the cytokine receptor superfamily and mediates the majority of growth hormone signaling, which, among other functions, determines mandibular growth and development. The aim of this study was to determine if correlations exist between single nucleotide polymorphisms (SNPs) in the GHR gene and OSAS in the Han or Hani ethnic groups in China...
April 13, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29587177/advances-in-functional-genetic-screening-with-transposons-and-crispr-cas9-to-illuminate-cancer-biology
#2
REVIEW
Kathryn A O'Donnell
Large-scale genome sequencing studies have identified a wealth of mutations in human tumors and have dramatically advanced the field of cancer genetics. However, the functional consequences of an altered gene in tumor progression cannot always be inferred from mutation status alone. This underscores the critical need for complementary methods to assign functional significance to mutated genes in cancer. Transposons are mobile genetic elements that serve as powerful tools for insertional mutagenesis. Over the last decade, investigators have employed mouse models with on-demand transposon-mediated mutagenesis to perform unbiased genetic screens to identify clinically relevant genes that participate in the pathogenesis of human cancer...
March 24, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29562674/variations-in-the-peritrophic-matrix-composition-of-heparan-sulphate-from-the-tsetse-fly-glossina-morsitans-morsitans
#3
Evelyn Rogerson, Julien Pelletier, Alvaro Acosta-Serrano, Clair Rose, Sarah Taylor, Scott Guimond, Marcelo Lima, Mark Skidmore, Edwin Yates
Tsetse flies are the principal insect vectors of African trypanosomes -sleeping sickness in humans and Nagana in cattle. One of the tsetse fly species, Glossina morsitans morsitans , is host to the parasite, Trypanosoma brucei , a major cause of African trypanosomiasis. Precise details of the life cycle have yet to be established, but the parasite life cycle involves crossing the insect peritrophic matrix (PM). The PM consists of the polysaccharide chitin, several hundred proteins, and both glycosamino- and galactosaminoglycan (GAG) polysaccharides...
March 19, 2018: Pathogens
https://www.readbyqxmd.com/read/29548648/genetic-factors-in-sleep-disordered-breathing
#4
REVIEW
Kiminobu Tanizawa, Kazuo Chin
Sleep-disordered breathing (SDB) is characterized by repetitive episodes of decreased or arrested respiratory airflow during sleep. SDB is common and affects approximately 20% of the Japanese general population. Most traits of normal sleep and SDB show familial aggregation, suggesting significant effects of genetic factors. Obstructive sleep apnea (OSA) is the most common type of SDB and has a high heritability. Regardless of high heritability, no risk locus for OSA has reached a genome-wide level of significance (P < 5×10-8 ) in linkage or candidate gene analysis...
March 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29542085/the-enhancer-trap-in-ciona
#5
Yasunori Sasakura
Enhancer trap is a famous application of transposons. This method is useful for the creation of marker transgenic lines that express a reporter gene in tissue- or organ-specific manner, characterization of enhancers in the genome, finding novel patterns of gene expression, and mutagenesis. In Ciona intestinalis, efficient enhancer traps with Minos and Sleeping beauty transposons have been reported. With the enhancer trap lines, the intronic enhancers regulating the expression of the Musashi gene, the compartment in the digestive tube, the presence of enhancers sensitive to the orientation of the gene that they regulate, and the functions of the Hox1 gene have been revealed...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29539279/variant-intestinal-cell-kinase-in-juvenile-myoclonic-epilepsy
#6
Julia N Bailey, Laurence de Nijs, Dongsheng Bai, Toshimitsu Suzuki, Hiroyuki Miyamoto, Miyabi Tanaka, Christopher Patterson, Yu-Chen Lin, Marco T Medina, María E Alonso, José M Serratosa, Reyna M Durón, Viet H Nguyen, Jenny E Wight, Iris E Martínez-Juárez, Adriana Ochoa, Aurelio Jara-Prado, Laura Guilhoto, Yolly Molina, Elsa M Yacubian, Minerva López-Ruiz, Yushi Inoue, Sunao Kaneko, Shinichi Hirose, Makiko Osawa, Hirokazu Oguni, Shinji Fujimoto, Thierry M Grisar, John M Stern, Kazuhiro Yamakawa, Bernard Lakaye, Antonio V Delgado-Escueta
BACKGROUND: In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes on electroencephalography (EEG) and the subtle microscopic brain dysplasia called microdysgenesis. METHODS: Using Sanger sequencing, we sequenced the exomes of six members of a large family affected with juvenile myoclonic epilepsy and confirmed cosegregation in all 37 family members. We screened an additional 310 patients with this disorder for variants on DNA melting-curve analysis and targeted real-time DNA sequencing of the gene encoding intestinal-cell kinase ( ICK)...
March 15, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29528164/thioester-containing-proteins-in-the-tsetse-fly-glossina-and-their-response-to-trypanosome-infection
#7
I Matetovici, J Van Den Abbeele
Thioester-containing proteins (TEPs) are conserved proteins with a role in innate immune immunity. In the current study, we characterized the TEP family in the genome of six tsetse fly species (Glossina spp.). Tsetse flies are the biological vectors of several African trypanosomes, which cause sleeping sickness in humans or nagana in livestock. The analysis of the tsetse TEP sequences revealed information about their structure, evolutionary relationships and expression profiles under both normal and trypanosome infection conditions...
March 12, 2018: Insect Molecular Biology
https://www.readbyqxmd.com/read/29520036/genome-wide-analysis-of-insomnia-disorder
#8
Murray B Stein, Michael J McCarthy, Chia-Yen Chen, Sonia Jain, Joel Gelernter, Feng He, Steven G Heeringa, Ronald C Kessler, Matthew K Nock, Stephan Ripke, Xiaoying Sun, Gary H Wynn, Jordan W Smoller, Robert J Ursano
Insomnia is a worldwide problem with substantial deleterious health effects. Twin studies have shown a heritable basis for various sleep-related traits, including insomnia, but robust genetic risk variants have just recently begun to be identified. We conducted genome-wide association studies (GWAS) of soldiers in the Army Study To Assess Risk and Resilience in Servicemembers (STARRS). GWAS were carried out separately for each ancestral group (EUR, AFR, LAT) using logistic regression for each of the STARRS component studies (including 3,237 cases and 14,414 controls), and then meta-analysis was conducted across studies and ancestral groups...
March 8, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29514871/interindividual-differences-in-caffeine-metabolism-and-factors-driving-caffeine-consumption
#9
REVIEW
Astrid Nehlig
Most individuals adjust their caffeine intake according to the objective and subjective effects induced by the methylxanthine. However, to reach the desired effects, the quantity of caffeine consumed varies largely among individuals. It has been known for decades that the metabolism, clearance, and pharmacokinetics of caffeine is affected by many factors such as age, sex and hormones, liver disease, obesity, smoking, and diet. Caffeine also interacts with many medications. All these factors will be reviewed in the present document and discussed in light of the most recent data concerning the genetic variability affecting caffeine levels and effects at the pharmacokinetic and pharmacodynamic levels that both critically drive the level of caffeine consumption...
April 2018: Pharmacological Reviews
https://www.readbyqxmd.com/read/29504896/transcriptome-analysis-reveals-mechanisms-of-geroprotective-effects-of-fucoxanthin-in-drosophila
#10
Alexey Moskalev, Mikhail Shaposhnikov, Nadezhda Zemskaya, Alexey Belyi, Eugenia Dobrovolskaya, Anna Patova, Zulfiya Guvatova, Elena Lukyanova, Anastasiya Snezhkina, Anna Kudryavtseva
BACKGROUND: We have previously showed that the carotenoid fucoxanthin can increase the lifespan in Drosophila melanogaster and Caenorhabditis elegans. However, the molecular mechanisms of the geroprotective effect of fucoxanthin have not been studied so far. RESULTS: Here, we studied the effects of fucoxanthin on the Drosophila aging process at the molecular and the whole organism levels. At the organismal level, fucoxanthin increased the median lifespan and had a positive effect on fecundity, fertility, intestinal barrier function, and nighttime sleep...
February 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29503198/efficient-non-viral-gene-delivery-into-human-hematopoietic-stem-cells-by-minicircle-sleeping-beauty-transposon-vectors
#11
Marta Holstein, Cristina Mesa-Nuñez, Csaba Miskey, Elena Almarza, Valentina Poletti, Marco Schmeer, Esther Grueso, Juan Carlos Ordóñez Flores, Dennis Kobelt, Wolfgang Walther, Manish K Aneja, Johannes Geiger, Halvard B Bonig, Zsuzsanna Izsvák, Martin Schleef, Carsten Rudolph, Fulvio Mavilio, Juan A Bueren, Guillermo Guenechea, Zoltán Ivics
The Sleeping Beauty (SB) transposon system is a non-viral gene delivery platform that combines simplicity, inexpensive manufacture, and favorable safety features in the context of human applications. However, efficient correction of hematopoietic stem and progenitor cells (HSPCs) with non-viral vector systems, including SB, demands further refinement of gene delivery techniques. We set out to improve SB gene transfer into hard-to-transfect human CD34+ cells by vectorizing the SB system components in the form of minicircles that are devoid of plasmid backbone sequences and are, therefore, significantly reduced in size...
January 31, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29501621/shedding-light-on-lipid-metabolism-in-kinetoplastida-a-phylogenetic-analysis-of-phospholipase-d-protein-homologs
#12
Noel-Marie Plonski, Bianca Bissoni, Madara Hetti Arachchilage, Karl Romstedt, Edgar E Kooijman, Helen Piontkivska
Unicellular flagellates that make up the class Kinetoplastida include multiple parasites responsible for public health concerns, including Trypanosoma brucei and T. cruzi (agents of African sleeping sickness and Chagas disease, respectively), and various Leishmania species, which cause leishmaniasis. These diseases are generally difficult to eradicate, with treatments often having lethal side effects and/or being effective only during the acute phase of the diseases, when most patients are still asymptomatic...
February 28, 2018: Gene
https://www.readbyqxmd.com/read/29463761/cooption-of-heat-shock-regulatory-system-for-anhydrobiosis-in-the-sleeping-chironomid-polypedilum-vanderplanki
#13
Pavel V Mazin, Elena Shagimardanova, Olga Kozlova, Alexander Cherkasov, Roman Sutormin, Vita V Stepanova, Alexey Stupnikov, Maria Logacheva, Aleksey Penin, Yoichiro Sogame, Richard Cornette, Shoko Tokumoto, Yugo Miyata, Takahiro Kikawada, Mikhail S Gelfand, Oleg Gusev
Polypedilum vanderplanki is a striking and unique example of an insect that can survive almost complete desiccation. Its genome and a set of dehydration-rehydration transcriptomes, together with the genome of Polypedilum nubifer (a congeneric desiccation-sensitive midge), were recently released. Here, using published and newly generated datasets reflecting detailed transcriptome changes during anhydrobiosis, as well as a developmental series, we show that the TCTAGAA DNA motif, which closely resembles the binding motif of the Drosophila melanogaster heat shock transcription activator (Hsf), is significantly enriched in the promoter regions of desiccation-induced genes in P...
February 20, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29441659/genetic-polymorphisms-associated-with-circadian-rhythm-dysregulation-provide-new-perspectives-on-bipolar-disorder
#14
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/29432776/establishment-of-cre-mediated-hbv-recombinant-cccdna-rcccdna-cell-line-for-cccdna-biology-and-antiviral-screening-assays
#15
Min Wu, Jin Li, Lei Yue, Lu Bai, Yaming Li, Jieliang Chen, Xiaonan Zhang, Zhenghong Yuan
Hepatitis B virus (HBV) covalently closed circular DNA (cccDNA), existing in hepatocyte nuclei as a stable minichromosome, plays a central role in the life cycle of the virus and permits the persistence of infection. Despite being essential for HBV infection, little is known about the molecular mechanisms of cccDNA formation, regulation and degradation, and there is no therapeutic agents directly targeting cccDNA, fore mostly due to the lack of robust, reliable and quantifiable HBV cccDNA models. In this study, combined the Cre/loxP and sleeping beauty transposons system, we established HepG2-derived cell lines integrated with 2-60 copies of monomeric HBV genome flanked by loxP sites (HepG2-HBV/loxP)...
April 2018: Antiviral Research
https://www.readbyqxmd.com/read/29364270/an-efficient-in-vitro-transposition-method-by-a-transcriptionally-regulated-sleeping-beauty-system-packaged-into-an-integration-defective-lentiviral-vector
#16
Daniela Benati, Fabienne Cocchiarella, Alessandra Recchia
The Sleeping Beauty (SB) transposon is a non-viral integrating system with proven efficacy for gene transfer and functional genomics. To optimize the SB transposon machinery, a transcriptionally regulated hyperactive transposase (SB100X) and T2-based transposon are employed. Typically, the transposase and transposon are provided transiently by plasmid transfection and SB100X expression is driven by a constitutive promoter. Here, we describe an efficient method to deliver the SB components to human cells that are resistant to several physical and chemical transfection methods, to control SB100X expression and stably integrate a gene of interest (GOI) through a "cut and paste" SB mechanism...
January 12, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29346496/melanopsin-system-dysfunction-in-smith-magenis-syndrome-patients
#17
Mirella Telles Salgueiro Barboni, Clarissa Bueno, Balázs Vince Nagy, Patrícia Lobo Maia, Kallene Summer Moreira Vidal, Rosana Cardoso Alves, Russel J Reiter, Fernanda Gaspar do Amaral, José Cipolla-Neto, Dora Fix Ventura
Purpose: Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. Methods: Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4)...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29343494/uncovering-genomic-regions-associated-with-trypanosoma-infections-in-wild-populations-of-the-tsetse-fly-glossina-fuscipes
#18
Andrea Gloria-Soria, W Augustine Dunn, Xiaoqing Yu, Aurélien Vigneron, Kuang-Yao Lee, Mo Li, Brian L Weiss, Hongyu Zhao, Serap Aksoy, Adalgisa Caccone
Vector-borne diseases are responsible for more than one million deaths every year but genomic resources for most species responsible for their transmission are limited. This is true for neglected diseases such as sleeping sickness (Human African Trypanosomiasis), a disease caused by Trypanosoma parasites vectored by several species of tseste flies within the genus Glossina We describe an integrative approach that identifies statistical associations between trypanosome infection status of Glossina fuscipes fuscipes (Gff) flies from Uganda, for which functional studies are complicated because the species cannot be easily maintained in laboratory colonies, and ~73,000 polymorphic sites distributed across the genome...
January 17, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29306690/differential-change-on-depressive-symptom-factors-with-antidepressant-medication-and-cognitive-behavior-therapy-for-major-depressive-disorder
#19
Boadie W Dunlop, Steven P Cole, Charles B Nemeroff, Helen S Mayberg, W Edward Craighead
BACKGROUND: Major depressive disorder (MDD) is a heterogeneous condition and individual patients are likely to be differentially responsive to specific treatments. In an exploratory factor analysis of three rating scales, the Genome-based Therapeutic Drugs for Depression (GENDEP) trial identified three factors that were differentially associated with outcome to nortriptyline and escitalopram. However, this factor analysis has neither been replicated or applied to a psychotherapy treatment...
March 15, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29305687/genetics-and-treatment-response-in-parkinson-s-disease-an-update-on-pharmacogenetic-studies
#20
REVIEW
Cristina Politi, Cinzia Ciccacci, Giuseppe Novelli, Paola Borgiani
Parkinson's disease (PD) is a complex neurodegenerative disorder characterized by a progressive loss of dopamine neurons of the central nervous system. The disease determines a significant disability due to a combination of motor symptoms such as bradykinesia, rigidity and rest tremor and non-motor symptoms such as sleep disorders, hallucinations, psychosis and compulsive behaviors. The current therapies consist in combination of drugs acting to control only the symptoms of the illness by the replacement of the dopamine lost...
March 2018: Neuromolecular Medicine
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