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https://www.readbyqxmd.com/read/29138588/rai1-gene-mutations-mechanisms-of-smith-magenis-syndrome
#1
REVIEW
Mariateresa Falco, Sonia Amabile, Fabio Acquaviva
Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by mutations in RAI1 itself. About 10% of all the SMS patients, in fact, carry an RAI1 mutation responsible for the phenotype. RAI1 (OMIM *607642) is a dosage-sensitive gene expressed in many tissues and highly conserved among species...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29128567/haploinsufficiency-of-hnrnp-u-changes-activity-pattern-and-metabolic-rhythms
#2
Beibei Lai, Jianghuan Zou, Zhaoyu Lin, Zhipeng Qu, Anying Song, Ying Xu, Xiang Gao
The neuropeptides arginine vasopressin (Avp) and vasoactive intestinal polypeptide (Vip) are critical for the communication and coupling of suprachiasmatic nucleus neurons, which organize daily rhythms of physiology and behavior in mammals. However, how these peptides are regulated remains uncharacterized. Here, we demonstrate that heterogeneous nuclear ribonucleoprotein U (hnRNP U) is essential for the expression of Avp and Vip. Loss of one copy of the Hnrnpu gene resulted in fragmented locomotor activities and disrupted metabolic rhythms...
November 8, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29120948/parvalbumin-containing-gaba-cells-and-schizophrenia-experimental-model-based-on-targeted-gene-delivery-through-adeno-associated-viruses
#3
Marta U Woloszynowska-Fraser, Peer Wulff, Gernot Riedel
Understanding the contribution of transmitter systems in behavioural pharmacology has a long tradition. Multiple techniques such as transmitter-specific lesions, and also localized administration of pharmacological toxins including agonists and antagonists of selected receptors have been applied. More recently, modern genetic tools have permitted cell-type selective interferences, for example by expression of light-sensitive channels followed by optogenetic stimulation in behaviourally meaningful settings or by engineered channels termed DREADDS that respond to peripherally administered drugs...
December 2017: Behavioural Pharmacology
https://www.readbyqxmd.com/read/29117754/generation-and-characterization-of-new-alleles-of-quiver-qvr-that-encodes-an-extracellular-modulator-of-the-shaker-potassium-channel
#4
Hongyu Ruan, Atsushi Ueda, Xiaomin Xing, Xuxuan Wan, Benjamin Strub, Spencer Mukai, Kaan Certel, David Green, Kyle Belozerov, Wei-Dong Yao, Wayne Johnson, Jim Jung-Ching Lin, Arthur J Hilliker, Chun-Fang Wu
Our earlier genetic screen uncovered a paraquat-sensitive leg-shaking mutant quiver(1) (qvr(1)), whose gene product interacts with the Shaker (Sh) K(+) channel. We also mapped the qvr locus to EY04063 and noticed altered day-night activity patterns in these mutants. Such circadian behavioral defects were independently reported by another group, who employed the qvr(1) allele we supplied them, and attributed the extreme restless phenotype of EY04063 to the qvr gene. However, their report adopted a new noncanonical gene name sleepless (sss) for qvr...
November 9, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29117554/downregulation-of-the-apelinergic-axis-accelerates-aging-whereas-its-systemic-restoration-improves-the-mammalian-healthspan
#5
Rahul Rai, Asish K Ghosh, Mesut Eren, Alexander R Mackie, Daniel C Levine, So-Youn Kim, Jonathan Cedernaes, Veronica Ramirez, Daniele Procissi, Layton H Smith, Teresa K Woodruff, Joseph Bass, Douglas E Vaughan
Aging drives the occurrence of numerous diseases, including cardiovascular disease (CVD). Recent studies indicate that blood from young mice reduces age-associated pathologies. However, the "anti-aging" factors in juvenile circulation remain poorly identified. Here, we characterize the role of the apelinergic axis in mammalian aging and identify apelin as an anti-aging factor. The expression of apelin (apln) and its receptor (aplnr) exhibits an age-dependent decline in multiple organs. Reduced apln signaling perturbs organismal homeostasis; mice harboring genetic deficiency of aplnr or apln exhibit enhanced cardiovascular, renal, and reproductive aging...
November 7, 2017: Cell Reports
https://www.readbyqxmd.com/read/29113020/the-genetics-of-obstructive-sleep-apnoea
#6
REVIEW
Sutapa Mukherjee, Richa Saxena, Lyle J Palmer
Obstructive sleep apnoea (OSA) is a common chronic disease and is associated with high social and economic costs. OSA is heritable, and there is evidence of both direct genetic contributions to OSA susceptibility and indirect contributions via 'intermediate' phenotypes such as obesity, craniofacial structure, neurological control of upper airway muscles and of sleep and circadian rhythm. Investigation of the genetics of OSA is an important research area and may lead to improved understanding of disease aetiology, pathogenesis, adverse health consequences and new preventive strategies and treatments...
November 7, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/29112195/face-and-predictive-validity-of-the-clock%C3%AE-19-mouse-as-an-animal-model-for-bipolar-disorder-a-systematic-review
#7
REVIEW
M Kristensen, A A Nierenberg, S D Østergaard
Mice carrying the circadian locomotor output cycles Kaput delta 19 N-ethyl-N-nitrosoure (ENU) mutation (ClockΔ19) are used as an animal model for bipolar disorder (BD). We aimed to systematically review the face validity (phenotypical and pathophysiological resemblance with BD) and predictive validity (responsiveness to treatments used in BD) of this model in adherence with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. We carried out a systematic search of the databases PubMed and Embase, combining search terms covering BD and ClockΔ19...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29109286/circadian-clock-cryptochrome-proteins-regulate-autoimmunity
#8
Qi Cao, Xuan Zhao, Jingwen Bai, Sigal Gery, Haibo Sun, De-Chen Lin, Qi Chen, Zhengshan Chen, Lauren Mack, Henry Yang, Ruishu Deng, Xianping Shi, Ling-Wa Chong, Han Cho, Jianjun Xie, Quan-Zhen Li, Markus Müschen, Annette R Atkins, Christopher Liddle, Ruth T Yu, Serhan Alkan, Jonathan W Said, Ye Zheng, Michael Downes, Ronald M Evans, H Phillip Koeffler
The circadian system regulates numerous physiological processes including immune responses. Here, we show that mice deficient of the circadian clock genes Cry1 and Cry2 [Cry double knockout (DKO)] develop an autoimmune phenotype including high serum IgG concentrations, serum antinuclear antibodies, and precipitation of IgG, IgM, and complement 3 in glomeruli and massive infiltration of leukocytes into the lungs and kidneys. Flow cytometry of lymphoid organs revealed decreased pre-B cell numbers and a higher percentage of mature recirculating B cells in the bone marrow, as well as increased numbers of B2 B cells in the peritoneal cavity of Cry DKO mice...
November 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29103939/stability-of-wake-sleep-cycles-requires-robust-degradation-of-the-period-protein
#9
Matthew D'Alessandro, Stephen Beesley, Jae Kyoung Kim, Zachary Jones, Rongmin Chen, Julie Wi, Kathleen Kyle, Daniel Vera, Michele Pagano, Richard Nowakowski, Choogon Lee
Robustness in biology is the stability of phenotype under diverse genetic and/or environmental perturbations. The circadian clock has remarkable stability of period and phase that-unlike other biological oscillators-is maintained over a wide range of conditions. Here, we show that the high fidelity of the circadian system stems from robust degradation of the clock protein PERIOD. We show that PERIOD degradation is regulated by a balance between ubiquitination and deubiquitination, and that disruption of this balance can destabilize the clock...
October 24, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29097698/circadian-preference-towards-morningness-is-associated-with-lower-slow-sleep-spindle-amplitude-and-intensity-in-adolescents
#10
Ilona Merikanto, Liisa Kuula, Tommi Makkonen, Róbert Bódizs, Risto Halonen, Kati Heinonen, Jari Lahti, Katri Räikkönen, Anu-Katriina Pesonen
Individual circadian preference types and sleep EEG patterns related to spindle characteristics, have both been associated with similar cognitive and mental health phenotypes. However, no previous study has examined whether sleep spindles would differ by circadian preference. Here, we explore if spindle amplitude, density, duration or intensity differ by circadian preference and whether these associations are moderated by spindle location, frequency, and time distribution across the night. The participants (N = 170, 59% girls; mean age = 16...
November 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29092799/novel-drosophila-model-for-psychiatric-disorders-including-autism-spectrum-disorder-by-targeting-of-atp-binding-cassette-protein-a
#11
Ibuki Ueoka, Hitoshi Kawashima, Atsushi Konishi, Mikio Aoki, Ryo Tanaka, Hideki Yoshida, Toru Maeda, Mamiko Ozaki, Masamitsu Yamaguchi
Autism spectrum disorder (ASD) is characterized by persistent deficits in social communication and social interactions, as well as restricted, stereotyped patterns of behavior and interests. In addition, alterations in circadian sleep-wake rhythm are common in young children with ASD. Mutations in ATP binding cassette subfamily A member 13 (ABCA13) have been recently identified in a monkey that displays behavior associated with ASD. ABCA13, a member of the ABCA family of proteins, is predicted to transport lipid molecules and is expressed in the human trachea, testis, bone marrow, hippocampus, cortex, and other tissues...
October 29, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/29082900/circadian-blood-pressure-variation-amongst-people-with-chronic-kidney-diseases-a-pilot-study-in-ibadan
#12
Abiodun M Adeoye, Yemi R Raji, Adewole Adebiyi, Bamidele O Tayo, Babatunde L Salako, Adesola Ogunniyi, Akinlolu Ojo, Richard Cooper
BACKGROUND: Circadian variation in blood pressure (BP) has been shown to determine cardiovascular events in people with chronic kidney diseases (CKDs). Studies aimed at elucidating the relationship between diurnal variation in BP and cardiovascular disease have yielded conflicting results, and very few of these studies have been conducted on CKD patients in Sub-Saharan Africa, hence the need for this study. SUBJECTS AND METHODS: Eighty-five adult participants comprising 54 patients with CKD (36 males and 18 females) and 31 hypertensive patients (16 males and 15 females) free of CKD were recruited for 24 h ambulatory BP monitoring and cardiovascular risk factor assessment...
July 2017: Nigerian Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29051754/a-cellular-fusion-cascade-regulated-by-laea-is-required-for-sclerotial-development-in-aspergillus-flavus
#13
Xixi Zhao, Joseph E Spraker, Jin Woo Bok, Thomas Velk, Zhu-Mei He, Nancy P Keller
Aspergillus flavus is a saprophytic soil fungus that poses a serious threat worldwide as it contaminates many food and feed crops with the carcinogenic mycotoxin called aflatoxin. This pathogen persists as sclerotia in the soil which enables fungal survival in harsh environmental conditions. Sclerotia formation by A. flavus depends on successful cell communication and hyphal fusion events. Loss of LaeA, a conserved developmental regulator in fungi, abolishes sclerotia formation in this species whereas overexpression (OE) of laeA results in enhanced sclerotia production...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29050555/natural-variation-in-human-clocks
#14
Malcolm von Schantz
Our own species has a diurnal activity pattern and an average circadian period of 24.2h. Exact determination of circadian period requires expensive and intrusive protocols, and investigators are therefore using chronotype questionnaires as a proxy quantitative measure. Both measures show a normal distribution suggestive of a polygenic trait. The genetic components of the 24-h feedback loop that generates circadian rhythms within our cells have been mapped in detail, identifying a number of candidate genes which have been investigated for genetic polymorphisms relating to the phenotypic variance...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/29046483/deficiency-of-shank2-causes-mania-like-behavior-that-responds-to-mood-stabilizers
#15
Andrea L Pappas, Alexandra L Bey, Xiaoming Wang, Mark Rossi, Yong Ho Kim, Haidun Yan, Fiona Porkka, Lara J Duffney, Samantha M Phillips, Xinyu Cao, Jin-Dong Ding, Ramona M Rodriguiz, Henry H Yin, Richard J Weinberg, Ru-Rong Ji, William C Wetsel, Yong-Hui Jiang
Genetic defects in the synaptic scaffolding protein gene, SHANK2, are linked to a variety of neuropsychiatric disorders, including autism spectrum disorders, schizophrenia, intellectual disability, and bipolar disorder, but the molecular mechanisms underlying the pleotropic effects of SHANK2 mutations are poorly understood. We generated and characterized a line of Shank2 mutant mice by deleting exon 24 (Δe24). Shank2Δe24-/- mice engage in significantly increased locomotor activity, display abnormal reward-seeking behavior, are anhedonic, have perturbations in circadian rhythms, and show deficits in social and cognitive behaviors...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29045837/the-circadian-clock-gene-bmal1-controls-thyroid-hormone-mediated-spectral-identity-and-cone-photoreceptor-function
#16
Onkar B Sawant, Amanda M Horton, Olivia F Zucaro, Ricky Chan, Vera L Bonilha, Ivy S Samuels, Sujata Rao
Circadian clocks regulate various aspects of photoreceptor physiology, but their contribution to photoreceptor development and function is unclear. Cone photoreceptors are critical for color vision. Here, we define the molecular function of circadian activity within cone photoreceptors and reveal a role for the clock genes Bmal1 and Per2 in regulating cone spectral identity. ChIP analysis revealed that BMAL1 binds to the promoter region of the thyroid hormone (TH)-activating enzyme type 2 iodothyronine deiodinase (Dio2) and thus regulates the expression of Dio2...
October 17, 2017: Cell Reports
https://www.readbyqxmd.com/read/29037208/light-dark-phase-dependent-spontaneous-activity-is-maintained-in-dopamine-deficient-mice
#17
Masayo Fujita, Yoko Hagino, Taishi Takeda, Shinya Kasai, Miho Tanaka, Yukio Takamatsu, Kazuto Kobayashi, Kazutaka Ikeda
Dopamine is important for motor control and involved in the regulation of circadian rhythm. We previously found that dopamine-deficient (DD) mice became hyperactive in a novel environment 72 h after the last injection of L-3,4-dihydroxyphenylalanine (L-DOPA) when dopamine was almost completely depleted. DD mice did not initially exhibit hyperactivity in their home cages, but the animals exhibited hyperactivity several hours after the last L-DOPA injection. The regulation of motor activity in a novel environment and in home cages may be different...
October 16, 2017: Molecular Brain
https://www.readbyqxmd.com/read/29035710/blunted-basal-corticosterone-pulsatility-predicts-post-exposure-susceptibility-to-ptsd-phenotype-in-rats
#18
Dor Danan, Michael A Matar, Zeev Kaplan, Joseph Zohar, Hagit Cohen
The basal activity of the hypothalamic-pituitary-adrenal axis is highly dynamic and is characterized by both circadian and ultradian (pulsatile) patterns of hormone secretion. Pulsatility of glucocorticoids has been determined to be critical for optimal transcriptional, neuroendocrine, and behavioral responses. We used an animal model of post-traumatic stress disorder (PTSD) to assess whether stress-induced impairment of behavioral responses is correlated with aberrant secretion of corticosterone. Serial blood samples were collected manually via the jugular vein cannula during the light-(inactive)-phase in conscious male rats at 20-min intervals for a period of 5h before and 6...
October 7, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29029290/nmda-receptor-mediated-ca2-influx-in-the-absence-of-mg2-block-disrupts-rest-activity-rhythms-in-drosophila
#19
Qian Song, Ge Feng, Jiaxing Zhang, Xuechun Xia, Min Ji, Lei Lv, Yong Ping
Introduction: The correlated activation of pre- and postsynaptic neurons is essential for the NMDA receptor-mediated Ca2+ influx by removing Mg2+ from block site and NMDA receptors have been implicated in phase resetting of circadian clocks. So we assessed rest:activity rhythms in Mg2+ block defective animals. Methods: Using Drosophila locomotor monitoring system, we checked circadian rest:activity rhythms of different mutants under constant darkness (DD) and light:dark (LD) conditions...
October 3, 2017: Sleep
https://www.readbyqxmd.com/read/29028359/complex-interaction-between-circadian-rhythm-and-diet-on-bile-acid-homeostasis-in-male-rats
#20
Hannah M Eggink, Johanneke E Oosterman, Paul de Goede, Emmely M de Vries, Ewout Foppen, Martijn Koehorst, Albert K Groen, Anita Boelen, Johannes A Romijn, Susanne E la Fleur, Maarten R Soeters, Andries Kalsbeek
Desynchronization between the master clock in the brain, which is entrained by (day) light, and peripheral organ clocks, which are mainly entrained by food intake, may have negative effects on energy metabolism. Bile acid metabolism follows a clear day/night rhythm. We investigated whether in rats on a normal chow diet the daily rhythm of plasma bile acids and hepatic expression of bile acid metabolic genes is controlled by the light/dark cycle or the feeding/fasting rhythm. In addition, we investigated the effects of high caloric diets and time-restricted feeding on daily rhythms of plasma bile acids and hepatic genes involved in bile acid synthesis...
October 13, 2017: Chronobiology International
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