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https://www.readbyqxmd.com/read/29673649/auto-immune-disorders-in-a-child-with-pik3cd-variant-and-22q13-deletion
#1
Kyoko Kiyota, Koh-Ichiro Yoshiura, Ryoko Houbara, Hiroaki Miyahara, Seigo Korematsu, Kenji Ihara
22q13 deletion syndrome is a genetic disorder caused by the deletion or disruption of the segment of the long arm of chromosome 22. The characteristic clinical features of this syndrome include delayed expressive speech, autistic behavior and hypotonia, and clinically severe complications associated with autoimmunity are rarely reported. We herein report a girl with 22q13 deletion syndrome complicated with multiple inflammatory and autoimmune diseases during early childhood. We performed whole-exome sequencing to identify the genes responsible for her autoimmune diseases and identified the de novo variant p...
April 16, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29671935/a-data-driven-investigation-of-relationships-between-bipolar-psychotic-symptoms-and-schizophrenia-genome-wide-significant-genetic-loci
#2
Ganna Leonenko, Arianna Di Florio, Judith Allardyce, Liz Forty, Sarah Knott, Lisa Jones, Katherine Gordon-Smith, Michael J Owen, Ian Jones, James Walters, Nick Craddock, Michael C O'Donovan, Valentina Escott-Price
The etiologies of bipolar disorder (BD) and schizophrenia include a large number of common risk alleles, many of which are shared across the disorders. BD is clinically heterogeneous and it has been postulated that the pattern of symptoms is in part determined by the particular risk alleles carried, and in particular, that risk alleles also confer liability to schizophrenia influence psychotic symptoms in those with BD. To investigate links between psychotic symptoms in BD and schizophrenia risk alleles we employed a data-driven approach in a genotyped and deeply phenotyped sample of subjects with BD...
April 19, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29670103/histone-h2ax-deficiency-causes-neurobehavioral-deficits-and-impaired-redox-homeostasis
#3
Urbain Weyemi, Bindu D Paul, Adele M Snowman, Parthav Jailwala, Andre Nussenzweig, William M Bonner, Solomon H Snyder
ATM drives DNA repair by phosphorylating the histone variant H2AX. While ATM mutations elicit prominent neurobehavioral phenotypes, neural roles for H2AX have been elusive. We report impaired motor learning and balance in H2AX-deficient mice. Mitigation of reactive oxygen species (ROS) with N-acetylcysteine (NAC) reverses the behavioral deficits. Mouse embryonic fibroblasts deficient for H2AX exhibit increased ROS production and failure to activate the antioxidant response pathway controlled by the transcription factor NRF2...
April 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29669935/irs2-mutations-linked-to-invasion-in-pleomorphic-invasive-lobular-carcinoma
#4
Sha Zhu, B Marie Ward, Jun Yu, Asia N Matthew-Onabanjo, Jenny Janusis, Chung-Cheng Hsieh, Keith Tomaszewicz, Lloyd Hutchinson, Lihua Julie Zhu, Dina Kandil, Leslie M Shaw
Pleomorphic invasive lobular carcinoma (PILC) is an aggressive variant of invasive lobular breast cancer that is associated with poor clinical outcomes. Limited molecular data are available to explain the mechanistic basis for PILC behavior. To address this issue, targeted sequencing was performed to identify molecular alterations that define PILC. This sequencing analysis identified genes that distinguish PILC from classic ILC and invasive ductal carcinoma by the incidence of their genomic changes. In particular, insulin receptor substrate 2 (IRS2) is recurrently mutated in PILC, and pathway analysis reveals a role for the insulin receptor (IR)/insulin-like growth factor-1 receptor (IGF1R)/IRS2 signaling pathway in PILC...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29667689/no-unjamming-transition-in-a-voronoi-model-of-biological-tissue
#5
Daniel M Sussman, Matthias Merkel
Vertex models are a popular approach to simulating the mechanical and dynamical properties of dense biological tissues, describing the tissue as a network of polygons. Recently a class of two-dimensional vertex models was shown to exhibit a disordered rigidity transition controlled by the preferred cellular geometry, which was subsequently echoed by experimental findings. An attractive variant of these models uses a Voronoi tessellation to describe the cells, which reduces the number of degrees of freedom as compared the original vertex model...
April 18, 2018: Soft Matter
https://www.readbyqxmd.com/read/29666565/postnatal-vitamin-d-intake-modulates-hippocampal-learning-and-memory-in-adult-mice
#6
Qiujuan Liang, Chunhui Cai, Dongxia Duan, Xinyu Hu, Wanhao Hua, Peicheng Jiang, Liu Zhang, Jun Xu, Zhengliang Gao
Vitamin D (VD) is a neuroactive steroid crucial for brain development, function and homeostasis. Its deficiency is associated with numerous brain conditions. As such, VD and its variants are routinely taken by a broad of groups with/without known VD deficiency. In contrast, the harmful effects of VD overdose have been poorly studied. Similarly, the developmental stage-specific VD deficiency and overdose have been rarely explored. In the present work, we showed that postnatal VD supplementation enhanced the motor function transiently in the young adult, but not in the older one...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29666459/stress-induced-reverse-martensitic-transformation-in-a-ti-51ni-at-alloy-aged-under-uniaxial-stress
#7
Fei Xiao, Hong Chen, Xuejun Jin, Zhihua Nie, Tomoyuki Kakeshita, Takashi Fukuda
Ti-51Ni (at%) alloys including coherent precipitates of Ti3 Ni4 exhibits thermally-induced B2-R transformation. If the Ti3 Ni4 is formed under tensile stress, it orientates preferentially so that its habit plane becomes perpendicular to the tensile axis. In such specimens, stress-induced reverse R-B2 transformation is reported to occur. In the present study, the stress-induced reverse R-B2 transformation behavior was studied by infrared camera and in situ X-ray analysis. The infrared camera observation revealed that the temperature of the specimen decreases homogeneously by the application of tensile stress within the resolution of the camera...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29666375/association-and-cis-mqtl-analysis-of-variants-in-chrna3-a5-chrna7-chrnb2-and-chrnb4-in-relation-to-nicotine-dependence-in-a-chinese-han-population
#8
Qiang Liu, Haijun Han, Maiqiu Wang, Yinghao Yao, Li Wen, Keran Jiang, Yunlong Ma, Rongli Fan, Jiali Chen, Kunkai Su, Zhongli Yang, Wenyan Cui, Wenji Yuan, Xianzhong Jiang, Jingjing Li, Thomas J Payne, Jundong Wang, Ming D Li
Nicotine dependence (ND) is a worldwide health problem. Numerous genetic studies have demonstrated a significant association of variants in nicotinic acetylcholine receptors (nAChRs) with smoking behaviors. However, most of these studies enrolled only subjects of European or African ancestry. In addition, although an increasing body of evidence implies a causal connection of single-nucleotide polymorphisms (SNPs) and epigenetic regulation of gene expression, few studies of this issue have been reported. In this study, we performed both association and interaction analysis for 67 SNPs in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 with ND in a Chinese Han population (N = 5055)...
April 18, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29665250/a-genome-wide-association-study-of-coping-behaviors-suggests-fbxo45-is-associated-with-emotional-expression
#9
Chisato Shimanoe, Tsuyoshi Hachiya, Megumi Hara, Yuichiro Nishida, Keitaro Tanaka, Yoichi Sutoh, Atsushi Shimizu, Asahi Hishida, Sayo Kawai, Rieko Okada, Takashi Tamura, Keitaro Matsuo, Hidemi Ito, Etsuko Ozaki, Daisuke Matsui, Rie Ibusuki, Ippei Shimoshikiryo, Naoyuki Takashima, Aya Kadota, Kokichi Arisawa, Hirokazu Uemura, Sadao Suzuki, Miki Watanabe, Kiyonori Kuriki, Kaori Endoh, Haruo Mikami, Yohko Nakamura, Yukihide Momozawa, Michiaki Kubo, Masahiro Nakatochi, Mariko Naito, Kenji Wakai
Individuals use coping behaviors to deal with unpleasant daily events. Such behaviors can moderate or mediate the pathway between psychosocial stress and health-related outcomes. However, few studies have examined the associations between coping behaviors and genetic variants. We conducted a genome-wide association study (GWAS) on coping behaviors in 13,088 participants aged 35-69 years as part of the Japan Multi-Institutional Collaborative Cohort Study. Five coping behaviors (emotional expression, emotional support seeking, positive reappraisal, problem solving, and disengagement) were measured and analyzed...
April 17, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29665075/the-characteristics-of-transferrin-variants-by-carbohydrate-deficient-transferrin-tests-using-capillary-zone-electrophoresis
#10
Gilsung Yoo, Juwon Kim, Kap Joon Yoon, Jong-Han Lee
BACKGROUND: Transferrin is the major plasma transport protein for iron. We aimed to investigate the characteristics of transferrin variant by carbohydrate-deficient transferrin (CDT) test using capillary zone electrophoresis. METHODS: We retrospectively analyzed the CDT tests of 2449 patients from March 2009 to May 2017 at a tertiary hospital in Korea. CDT was quantified using a Capillarys 2 system (Sebia, Lisses, France) by capillary zone electrophoresis. The characteristics of variant transferrin patterns using electropherogram of CDT tests were analyzed...
April 17, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29662677/auto-antibodies-against-p-q-and-n-type-voltage-dependent-calcium-channels-mimicking-frontotemporal-dementia
#11
Kyan Younes, Lauren A Lepow, Cynthia Estrada, Paul E Schulz
The behavioral variant of frontotemporal dementia is usually a sporadic and progressive neurodegenerative disorder. Here, we report the subacute onset of a frontotemporal dementia phenotype with a treatable etiology. The patient has a history of rheumatoid arthritis, episcleritis, and thyroid eye disease on immunosuppressive therapy. He experienced a rapid personality change, including inappropriate behavior, which suggested frontotemporal dementia. Results of imaging and neuropsychological testing also suggested frontotemporal dementia...
2018: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29661121/urothelial-carcinomas-of-the-urinary-bladder-with-plasmacytoid-or-rhabdoid-features-and-tendency-of-epithelial-mesenchymal-transition-in-3-dogs
#12
Susanne Je-Han Lin, Chi-Fei Kao, Fun-In Wang, Chian-Ren Jeng, Jih-Jong Lee, Lei-Ya Wang, Hui-Wen Chang, Yi-Jiun Chen, Chen-Hsuan Liu, Victor Fei Pang
Plasmacytoid and rhabdoid variants of urothelial carcinomas (UCs) of the urinary bladder have been described in humans with plasma cell-like or rhabdoid cellular appearance and aggressive clinical outcome. Canine UC of the bladder is generally classified as papillary/nonpapillary and infiltrating/noninfiltrating with limited information regarding other histological patterns. We report 3 cases of UC of the urinary bladder showing a unique discohesive cellular morphology with malignant behavior resembling the human plasmacytoid and rhabdoid variants of UC, which may raise some difficulties in diagnosis...
January 1, 2018: Veterinary Pathology
https://www.readbyqxmd.com/read/29660444/ca-2-binding-protein-1-regulates-hippocampal-dependent-memory-and-synaptic-plasticity
#13
Tian Yang, Jeremiah K Britt, Coral J Cintrón-Pérez, Edwin Vázquez-Rosa, Kevin V Tobin, Grant Stalker, Jason Hardie, Rebecca J Taugher, John Wemmie, Andrew A Pieper, Amy Lee
Ca2+ binding protein 1 (CaBP1) is a Ca2+ sensing protein similar to calmodulin that potently regulates voltage-gated Ca2+ channels. Unlike calmodulin, however, CaBP1 is mainly expressed in neuronal cell-types and enriched in the hippocampus, where its function is unknown. Here, we investigated the role of CaBP1 in hippocampal-dependent behaviors using mice lacking expression of CaBP1 (C-KO). By western blot, the largest CaBP1 splice variant, caldendrin, was detected in hippocampal lysates from wild-type (WT) but not C-KO mice...
April 13, 2018: Neuroscience
https://www.readbyqxmd.com/read/29660197/the-novel-truncated-isoform-of-human-manganese-superoxide-dismutase-has-a-differential-role-in-promoting-metastasis-of-lung-cancer-cells
#14
Shuaiguang Li, Enze Yang, Lianghua Shen, Dewei Niu, Mason Breitzig, Lee Charles Tan, Xiaocong Wu, Meiyan Huang, Hanxiao Sun, Feng Wang
Growing evidences have demonstrated alternative splicing makes great contribution to tumor metastasis since multiple protein isoforms from a single gene that often display different functions in the cell. Human manganese superoxide dismutase (hMnSOD) was revealed dysregulation in progress of tumor metastasis, while the effect of hMnSOD isoforms on metastasis remained unclear. In this study, we showed a novel truncated hMnSOD isoform hMnSOD183, which lacked 39 amino acids compared with hMnSOD222. We expressed two hMnSOD protein isoforms in E...
April 16, 2018: Cell Biology International
https://www.readbyqxmd.com/read/29658499/-the-impact-of-abuse-and-neglect-in-childhood-on-the-development-of-substance-use-disorders
#15
E A Katan
The review of literature over the last decade addresses the impact of childhood abuse and neglect on the further development of addictions and mental disorders. The results of the studies have been analyzed in the aspect of abuse, age and gender characteristics in childhood and variants of consequences: from neurodevelopment to behavioral disorders. Childhood abuse and neglect is associated with the higher risk of posttraumatic stress disorder, suicidal behavior and some psychiatric diseases. Attention is focused on the fact that adults with substance use disorders (SUDs) report higher rates of child abuse than adults without SUDs...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29656245/individual-differences-in-socioemotional-sensitivity-are-an-index-of-salience-network-function
#16
Gianina Toller, Jesse Brown, Marc Sollberger, Suzanne M Shdo, Laura Bouvet, Paul Sukhanov, William W Seeley, Bruce L Miller, Katherine P Rankin
Connectivity in intrinsically connected networks (ICNs) may predict individual differences in cognition and behavior. The drastic alterations in socioemotional awareness of patients with behavioral variant frontotemporal dementia (bvFTD) are presumed to arise from changes in one such ICN, the salience network (SN). We examined how individual differences in SN connectivity are reflected in overt social behavior in healthy individuals and patients, both to provide neuroscientific insight into this key brain-behavior relationship, and to provide a practical tool to diagnose patients with early bvFTD...
February 27, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29655930/circadian-signaling-in-homarus-americanus-region-specific-de-novo-assembled-transcriptomes-show-that-both-the-brain-and-eyestalk-ganglia-possess-the-molecular-components-of-a-putative-clock-system
#17
Andrew E Christie, Andy Yu, Micah G Pascual, Vittoria Roncalli, Matthew C Cieslak, Amanda N Warner, Tess J Lameyer, Meredith E Stanhope, Patsy S Dickinson, J Joe Hull
Essentially all organisms exhibit recurring patterns of physiology/behavior that oscillate with a period of ~24-h and are synchronized to the solar day. Crustaceans are no exception, with robust circadian rhythms having been documented in many members of this arthropod subphylum. However, little is known about the molecular underpinnings of their circadian rhythmicity. Moreover, the location of the crustacean central clock has not been firmly established, although both the brain and eyestalk ganglia have been hypothesized as loci...
April 11, 2018: Marine Genomics
https://www.readbyqxmd.com/read/29650774/genetic-variants-in-cpa6-and-prpf31-are-associated-with-variation-in-response-to-metformin-in-individuals-with-type-2-diabetes
#18
Daniel M Rotroff, Sook Wah Yee, Kaixin Zhou, Skylar W Marvel, Hetal S Shah, John R Jack, Tammy M Havener, Monique M Hedderson, Michiaki Kubo, Mark A Herman, He Gao, Josyf C Mychaleckyi, Howard L McLeod, Alessandro Doria, Kathleen M Giacomini, Ewan R Pearson, Michael J Wagner, John B Buse, Alison A Motsinger-Reif
Metformin is the first line treatment for type 2 diabetes (T2D). Although widely prescribed, the glucose-lowering mechanism for metformin is incompletely understood. Here we used a genome-wide association approach in a diverse group of individuals with T2D from the Action to Control Cardiovascular Risk in Diabetes (ACCORD) clinical trial to identify common and rare variants associated with HbA1c response to metformin treatment, and followed up these findings in four replication cohorts. Common variants in PRPF31 and CPA6 , were associated with worse and better metformin response, respectively (p<5×10-6 ), and meta-analysis in independent cohorts displayed similar associations with metformin response (p=1...
April 12, 2018: Diabetes
https://www.readbyqxmd.com/read/29643356/disc1-regulates-lactate-metabolism-in-astrocytes-implications-for-psychiatric-disorders
#19
Yan Jouroukhin, Yusuke Kageyama, Varvara Misheneva, Alexey Shevelkin, Shaida Andrabi, Emese Prandovszky, Robert H Yolken, Valina L Dawson, Ted M Dawson, Susan Aja, Hiromi Sesaki, Mikhail V Pletnikov
Our knowledge of how genetic risk variants contribute to psychiatric disease is mainly limited to neurons. However, the mechanisms whereby the same genetic risk factors could affect the physiology of glial cells remain poorly understood. We studied the role of a psychiatric genetic risk factor, Disrupted-In-Schizophrenia-1 (DISC1), in metabolic functions of astrocytes. We evaluated the effects of knockdown of mouse endogenous DISC1 (DISC1-KD) and expression of a dominant-negative, C-terminus truncated human DISC1 (DN-DISC1) on the markers of energy metabolism, including glucose uptake and lactate production, in primary astrocytes and in mice with selective expression of DN-DISC1 in astrocytes...
April 12, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29642702/g-quadruplex-dna-with-an-apurinic-site-as-a-soft-molecularly-imprinted-sensing-platform
#20
Qiusha Li, Yifan Fei, Longlong Gao, Yali Yu, Yufeng Zhou, Ting Ye, Xiao-Shun Zhou, Yong Shao, Zheng-Zhi Yin
Molecularly imprinted polymers (MIPs) provide versatile sensor platforms to recognize targets by shape complementarity. However, the rigid structure of the classic MIPs compromises the signal transduction thus with necessary of the polymer and target modifications. Herein, we tried to use a flexible DNA that has a perfectly structured folding as the soft molecularly imprinted polymer (SMIP) for a straightforward sensor. As a proof of concept, the guanosine SMIP recognition was achieved by removal of a guanosine from a G-quadruplex-forming sequence (G4)...
April 12, 2018: Analytical Chemistry
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