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https://www.readbyqxmd.com/read/28346922/epigenetics-in-gastrointestinal-health-and-disease-spotlight-on-dna-methylation-in-the-intestinal-epithelium
#1
Matthias Zilbauer, Judith Kraiczy
Epigenetics can be defined as stable, potentially heritable changes in cellular phenotype caused by mechanisms other than alterations in the underlying DNA sequence. DNA methylation is amongst the most intensely studied epigenetic mechanisms and has been shown to play a major role in regulating fundamental aspects of cell biology including cellular differentiation, organ development, and cell type-specific gene expression. Importantly, it is becoming increasingly clear that epigenetic mechanisms operate at the interface between the genetic code and our environment and are able to mediate environmental changes into stable phenotypic alterations...
2017: Nestlé Nutrition Institute Workshop Series
https://www.readbyqxmd.com/read/28346824/weighted-pseudolikelihood-for-snp-set-analysis-with-multiple-secondary-outcomes-in-case-control-genetic-association-studies
#2
Tamar Sofer, Elizabeth D Schifano, David C Christiani, Xihong Lin
We propose a weighted pseudolikelihood method for analyzing the association of a SNP set, example, SNPs in a gene or a genetic pathway or network, with multiple secondary phenotypes in case-control genetic association studies. To boost analysis power, we assume that the SNP-specific effects are shared across all secondary phenotypes using a scaled mean model. We estimate regression parameters using Inverse Probability Weighted (IPW) estimating equations obtained from the weighted pseudolikelihood, which accounts for case-control sampling to prevent potential ascertainment bias...
March 27, 2017: Biometrics
https://www.readbyqxmd.com/read/28346812/identification-of-a-novel-benzimidazole-pyrazolone-scaffold-that-inhibits-kdm4-lysine-demethylases-and-reduces-proliferation-of-prostate-cancer-cells
#3
David M Carter, Edgar Specker, Jessica Przygodda, Martin Neuenschwander, Jens Peter von Kries, Udo Heinemann, Marc Nazaré, Ulrich Gohlke
Human lysine demethylase (KDM) enzymes (KDM1-7) constitute an emerging class of therapeutic targets, with activities that support growth and development of metastatic disease. By interacting with and co-activating the androgen receptor, the KDM4 subfamily (KDM4A-E) promotes aggressive phenotypes of prostate cancer (PCa). Knockdown of KDM4 expression or inhibition of KDM4 enzyme activity reduces the proliferation of PCa cell lines and highlights inhibition of lysine demethylation as a possible therapeutic method for PCa treatment...
March 1, 2017: SLAS Discov
https://www.readbyqxmd.com/read/28346799/activation-of-macrophages-by-lipopolysaccharide-for-assessing-the-immunomodulatory-property-of-biomaterials
#4
Shengwei Han, Zetao Chen, Pingping Han, Qingang Hu, Yin Xiao
The design paradigm of biomaterials has been changed to ones with favorable immunomodulatory effects, indicating the importance of accurately evaluating the immunomodulatory properties of biomaterials. Among all the immune cells macrophages receive most attention, due to their plasticity and multiple roles in the materials and host interactions, and thereby become model immune cells for the evaluation of immunomodulatory properties of biomaterials in many studies. Lipopolysaccharides (LPS), a polysaccharide in the outer membrane of Gram-negative bacteria, elicit strong immune responses, which was often applied to activate macrophages, resulting in a proinflammatory M1 phenotype, and the release of proinflammatory cytokines, including tumor necrosis factor alpha (TNFα), interleukin (IL)-1, and IL-6...
March 24, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28346794/comparative-study-of-xenobiotic-free-media-for-the-cultivation-of-human-limbal-epithelial-stem-progenitor-cells
#5
Sheyla González, Luxia Chen, Sophie X Deng
The culture of human limbal epithelial stem/progenitor cells (LSCs) in the presence of animal components poses the risk of cross-species contamination in clinical applications. We quantitatively compared different xenobiotic-free culture media for the cultivation of human LSCs. LSCs were cultured from 2 × 2 mm limbal tissue explants on denuded human amniotic membrane with different xenobiotic-free culture media: CnT-Prime (CnT-PR) supplemented with 0%, 1%, 5%, and 10% human serum (HS), embryonic stem cell medium (ESCM) alone or in combination with the standard supplemented hormonal epithelium medium (SHEM, control) at a 1:1 dilution ratio, and modified SHEM (mSHEM), in which cholera toxin and dimethyl sulfoxide (DMSO) were removed, isoproterenol was added, and the epidermal growth factor concentration was reduced...
March 24, 2017: Tissue Engineering. Part C, Methods
https://www.readbyqxmd.com/read/28346710/the-arabidopsis-thiamin-deficient-mutant-pale-green1-lacks-thiamin-monophosphate-phosphatase-of-the-vitamin-b1-biosynthesis-pathway
#6
Wei-Yu Hsieh, Jo-Chien Liao, Hsin-Tzu Wang, Tzu-Huan Hung, Ching-Chih Tseng, Tsui-Yun Chung, Ming-Hsiun Hsieh
Thiamin diphosphate (TPP, vitamin B1) is an essential coenzyme present in all organisms. Animals obtain TPP from their diets, but plants synthesize TPP de novo. We isolated and characterized an Arabidopsis pale green1 (pale1) mutant that contained higher concentrations of thiamin monophosphate (TMP) and less thiamin and TPP than the wild type. Supplementation with thiamin, but not the thiazole and pyrimidine precursors, rescued the mutant phenotype, indicating that the pale1 mutant is a thiamin-deficient mutant...
March 27, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28346685/experience-of-shame-mediates-the-relationship-between-pathological-narcissism-and-suicidal-ideation-in-psychiatric-outpatients
#7
Nenad Jaksic, Darko Marcinko, Milena Skocic Hanzek, Blaz Rebernjak, John S Ogrodniczuk
OBJECTIVE: Pathological narcissism, described by 2 dysfunctional phenotypic forms-grandiosity and vulnerability-has often been connected to suicidal tendencies in theoretical and clinical literatures. Furthermore, shame proneness has been implicated as a key mechanism that links these 2 constructs. However, empirical evidence for the presumed relationship between pathological narcissism and suicidal tendencies is sparse, and no prior research has investigated the role of shame proneness in this relationship...
March 27, 2017: Journal of Clinical Psychology
https://www.readbyqxmd.com/read/28346658/spatially-heterogeneous-selection-in-nature-favors-phenotypic-plasticity-in-anuran-larvae
#8
Josh Van Buskirk
Theory holds that adaptive phenotypic plasticity evolves under spatial or temporal variation in natural selection. I tested this prediction in a classic system of predator-induced plasticity: frog tadpoles (Rana temporaria) reacting to predaceous aquatic insects. An outdoor mesocosm experiment manipulating exposure to Aeshna dragonfly larvae revealed plasticity in most characters: growth, development, behavior, and external morphology. I measured selection by placing 1927 tadpoles into enclosures within natural ponds; photographs permitted identification of the survivors 6-9 days later...
March 27, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28346561/reduced-intestinal-motility-mucosal-barrier-function-and-inflammation-in-aged-monkeys
#9
E L Mitchell, A T Davis, K Brass, M Dendinger, R Barner, R Gharaibeh, A A Fodor, K Kavanagh
OBJECTIVE: We aimed to examine the general health and intestinal physiology of young and old non-human primates with comparable life histories and dietary environments. DESIGN: Vervet monkeys (Chlorcebus aethiops sabaeus) in stable and comparable social and nutritional environments were selected for evaluation. Health phenotype, circulating cytokines and biomarkers of microbial translocation (MT) were measured (n=26-44). Subsets of monkeys additionally had their intestinal motility, intestinal permeability, and fecal microbiomes characterized...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/28346529/human-amnion-epithelial-cells-modulate-the-inflammatory-response-to-ventilation-in-preterm-lambs
#10
Jacqueline M Melville, Courtney A McDonald, Robert J Bischof, Graeme R Polglase, Rebecca Lim, Euan M Wallace, Graham Jenkin, Timothy J Moss
Ventilation of preterm neonates causes pulmonary inflammation that can contribute to lung injury, propagate systemically and result in long-term disease. Modulation of this initial response may reduce lung injury and its sequelae. We aimed to determine the effect of human amnion epithelial cells (hAECs) on immune activation and lung injury in preterm neonatal lambs. Preterm lambs received intratracheal hAECs (90x106) or vehicle, prior to 2 h of mechanical ventilation. Within 5 min of ventilation onset, lambs also received intravenous hAECs (90x106) or vehicle...
2017: PloS One
https://www.readbyqxmd.com/read/28346501/a-tissue-specific-role-for-intraflagellar-transport-genes-during-craniofacial-development
#11
Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including craniosynostosis, micrognathia, midfacial dysplasia, cleft lip/palate and oral/dental defects. Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm...
2017: PloS One
https://www.readbyqxmd.com/read/28346496/overlapping-setbp1-gain-of-function-mutations-in-schinzel-giedion-syndrome-and-hematologic-malignancies
#12
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#13
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346492/dual-energy-x-ray-absorptiometry-body-composition-reference-values-of-limbs-and-trunk-from-nhanes-1999-2004-with-additional-visualization-methods
#14
Benjamin J Hinton, Bo Fan, Bennett K Ng, John A Shepherd
Body Mass Index has traditionally been used as a measure of health, but Fat Mass Index (FMI) and Lean Mass Index (LMI) have been shown to be more predictive of mortality and health risk. Total body FMI and LMI reference curves have particularly been useful in quantifying sarcopenia and sarcopenic obesity. Research has shown regional composition has significant associations to health outcomes. We derived FMI and LMI reference curves of the regions of the body (leg, arm, and trunk) for 15,908 individuals in the 1999-2004 National Health and Nutrition Examination Survey data for each sex and ethnicity using the Lambda-Mu-Sigma (LMS) method and developed software to visualize this regional composition...
2017: PloS One
https://www.readbyqxmd.com/read/28346489/gonadotropin-releasing-hormone-receptor-gnrhr-gene-knock-out-normal-growth-and-development-of-sensory-motor-and-spatial-orientation-behavior-but-altered-metabolism-in-neonatal-and-prepubertal-mice
#15
Ellen R Busby, Nancy M Sherwood
Gonadotropin-releasing hormone (GnRH) is important in the control of reproduction, but its actions in non-reproductive processes are less well known. In this study we examined the effect of disrupting the GnRH receptor in mice to determine if growth, metabolism or behaviors that are not associated with reproduction were affected. To minimize the effects of other hormones such as FSH, LH and sex steroids, the neonatal-prepubertal period of 2 to 28 days of age was selected. The study shows that regardless of sex or phenotype in the Gnrhr gene knockout line, there was no significant difference in the daily development of motor control, sensory detection or spatial orientation among the wildtype, heterozygous or null mice...
2017: PloS One
https://www.readbyqxmd.com/read/28346378/dna-repair-pathway-alterations-in-bladder-cancer
#16
REVIEW
Kent W Mouw
Most bladder tumors have complex genomes characterized by a high mutation burden as well as frequent copy number alterations and chromosomal rearrangements. Alterations in DNA repair pathways-including the double-strand break (DSB) and nucleotide excision repair (NER) pathways-are present in bladder tumors and may contribute to genomic instability and drive the tumor phenotype. DNA damaging such as cisplatin, mitomycin C, and radiation are commonly used in the treatment of muscle-invasive or metastatic bladder cancer, and several recent studies have linked specific DNA repair pathway defects with sensitivity to DNA damaging-based therapy...
March 27, 2017: Cancers
https://www.readbyqxmd.com/read/28346326/sarcomas-with-cic-rearrangements-are-a-distinct-pathologic-entity-with-aggressive-outcome-a-clinicopathologic-and-molecular-study-of-115-cases
#17
Cristina R Antonescu, Adepitan A Owosho, Lei Zhang, Sonja Chen, Kemal Deniz, Joseph M Huryn, Yu-Chien Kao, Shih-Chiang Huang, Samuel Singer, William Tap, Inga-Marie Schaefer, Christopher D Fletcher
CIC-DUX4 gene fusion, resulting from either a t(4;19) or t(10;19) translocation, is the most common genetic abnormality detected in EWSR1-negative small blue round cell tumors. Following their discovery it was debated if these tumors should be classified as variants of Ewing sarcoma (ie, atypical Ewing sarcoma) or as a stand-alone pathologic entity. As such the WHO classification temporarily grouped the CIC-rearranged tumors under undifferentiated sarcomas with round cell phenotype, until further clinical evidence was available...
March 24, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28346269/cohort-variation-in-selection-during-pregnancy-and-risk-of-selected-birth-defects-among-males
#18
Tim A Bruckner, Deborah Karasek, Wei Yang, Gary M Shaw, Ralph A Catalano
BACKGROUND: The literature theorizes, but does not test, that variation over time in selective loss in utero affects the observed count of live-born birth defects cases. We test the hypothesis that the risk of birth defects among live-born males varies inversely with the strength of selection against males in utero. METHODS: We identified a subset of six birth defect phenotypes among males from the California Birth Defects Monitoring Program, an active surveillance system for over 490,000 male singletons born in eight California counties from 1986 through 2004...
March 23, 2017: Epidemiology
https://www.readbyqxmd.com/read/28346242/genetic-variation-in-gabr%C3%AE-1-and-the-risk-for-developing-alcohol-dependence
#19
William A McCabe, Michael J Way, Kush Ruparelia, Susanne Knapp, M Adam Ali, Quentin M Anstee, Howard C Thomas, Andrew McQuillin, Marsha Y Morgan
Associations between the γ-aminobutyric acid type-A receptors (GABAA) and alcohol dependence risk have been reported, although the receptor subunit driving the association is unclear. Recent work in mice has highlighted a possible role for variants in the Gabr β1 subunit (Gabrβ1) in alcohol dependence risk, although this gene does not contain any common nonsynonymous variants in humans. However, the GABAA receptor is a heteropentamer so multiple potential variants within the gene complex could generate the alcohol dependence phenotype...
March 24, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28346234/outstanding-animal-studies-in-allergy-i-from-asthma-to-food-allergy-and-anaphylaxis
#20
Erika Jensen-Jarolim, Isabella Pali-Schöll, Franziska Roth-Walter
PURPOSE OF REVIEW: Animal models published within the past 18 months on asthma, food allergy and anaphylaxis, all conditions of rising public health concern, were reviewed. RECENT FINDINGS: While domestic animals spontaneously develop asthma, food allergy and anaphylaxis, in animal models, divergent sensitization and challenge routes, dosages, intervals and antigens are used to induce asthmatic, food allergic or anaphylactic phenotypes. This must be considered in the interpretation of results...
March 24, 2017: Current Opinion in Allergy and Clinical Immunology
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