keyword
MENU ▼
Read by QxMD icon Read
search

eGenes

keyword
https://www.readbyqxmd.com/read/28434998/use-of-two-photon-microscopy-to-study-leishmania-major-infection-of-the-skin
#1
REVIEW
Matheus Batista Carneiro, Leah Shan Hohman, Jackson G Egen, Nathan C Peters
Intra-vital two-photon microscopy (2P-IVM) allows for in-situ investigation of tissue organization, cell behavior and the dynamic interactions between different cell types in their natural environment. This methodology has also expanded our understanding of the immune response against pathogens. Leishmania are protozoan intracellular parasites that have adapted to successfully establish infection within the context of an inflammatory response in the skin following transmission by the bite of an infected sand fly...
April 18, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28406900/gene-co-expression-network-connectivity-is-an-important-determinant-of-selective-constraint
#2
Niklas Mähler, Jing Wang, Barbara K Terebieniec, Pär K Ingvarsson, Nathaniel R Street, Torgeir R Hvidsten
While several studies have investigated general properties of the genetic architecture of natural variation in gene expression, few of these have considered natural, outbreeding populations. In parallel, systems biology has established that a general feature of biological networks is that they are scale-free, rendering them buffered against random mutations. To date, few studies have attempted to examine the relationship between the selective processes acting to maintain natural variation of gene expression and the associated co-expression network structure...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28388432/large-diverse-population-cohorts-of-hipscs-and-derived-hepatocyte-like-cells-reveal-functional-genetic-variation-at-blood-lipid-associated-loci
#3
Evanthia E Pashos, YoSon Park, Xiao Wang, Avanthi Raghavan, Wenli Yang, Deepti Abbey, Derek T Peters, Juan Arbelaez, Mayda Hernandez, Nicolas Kuperwasser, Wenjun Li, Zhaorui Lian, Ying Liu, Wenjian Lv, Stacey L Lytle-Gabbin, Dawn H Marchadier, Peter Rogov, Jianting Shi, Katherine J Slovik, Ioannis M Stylianou, Li Wang, Ruilan Yan, Xiaolan Zhang, Sekar Kathiresan, Stephen A Duncan, Tarjei S Mikkelsen, Edward E Morrisey, Daniel J Rader, Christopher D Brown, Kiran Musunuru
Genome-wide association studies have struggled to identify functional genes and variants underlying complex phenotypes. We recruited a multi-ethnic cohort of healthy volunteers (n = 91) and used their tissue to generate induced pluripotent stem cells (iPSCs) and hepatocyte-like cells (HLCs) for genome-wide mapping of expression quantitative trait loci (eQTLs) and allele-specific expression (ASE). We identified many eQTL genes (eGenes) not observed in the comparably sized Genotype-Tissue Expression project's human liver cohort (n = 96)...
April 6, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28369161/enhanced-methods-to-detect-haplotypic-effects-on-gene-expression
#4
Robert Brown, Gleb Kichaev, Nicholas Mancuso, James Boocock, Bogdan Pasaniuc
Motivation: Expression quantitative trait loci (eQTLs), genetic variants associated with gene expression levels, are identified in eQTL mapping studies. Such studies typically test for an association between single nucleotide polymorphisms (SNPs) and expression under an additive model, which ignores interaction and haplotypic effects. Mismatches between the model tested and the underlying genetic architecture can lead to a loss of association power. Here we introduce a new haplotype-based test for eQTL studies that looks for haplotypic effects on expression levels...
March 22, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28285768/dynamic-role-of-trans-regulation-of-gene-expression-in-relation-to-complex-traits
#5
Chen Yao, Roby Joehanes, Andrew D Johnson, Tianxiao Huan, Chunyu Liu, Jane E Freedman, Peter J Munson, David E Hill, Marc Vidal, Daniel Levy
Identifying causal genetic variants and understanding their mechanisms of effect on traits remains a challenge in genome-wide association studies (GWASs). In particular, how genetic variants (i.e., trans-eQTLs) affect expression of remote genes (i.e., trans-eGenes) remains unknown. We hypothesized that some trans-eQTLs regulate expression of distant genes by altering the expression of nearby genes (cis-eGenes). Using published GWAS datasets with 39,165 single-nucleotide polymorphisms (SNPs) associated with 1,960 traits, we explored whole blood gene expression associations of trait-associated SNPs in 5,257 individuals from the Framingham Heart Study...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28250200/cxcl14-is-a-candidate-biomarker-for-hedgehog-signalling-in-idiopathic-pulmonary-fibrosis
#6
Guiquan Jia, Sanjay Chandriani, Alexander R Abbas, Daryle J DePianto, Elsa N N'Diaye, Murat B Yaylaoglu, Heather M Moore, Ivan Peng, Jason DeVoss, Harold R Collard, Paul J Wolters, Jackson G Egen, Joseph R Arron
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is associated with aberrant expression of developmental pathways, including Hedgehog (Hh). As Hh signalling contributes to multiple pro-fibrotic processes, Hh inhibition may represent a therapeutic option for IPF. However, no non-invasive biomarkers are available to monitor lung Hh activity. METHODS: We assessed gene and protein expression in IPF and control lung biopsies, mouse lung, fibroblasts stimulated in vitro with sonic hedgehog (SHh), and plasma in IPF patients versus controls, and cancer patients before and after treatment with vismodegib, a Hh inhibitor...
March 1, 2017: Thorax
https://www.readbyqxmd.com/read/28122634/integrated-genome-wide-analysis-of-expression-quantitative-trait-loci-aids-interpretation-of-genomic-association-studies
#7
Roby Joehanes, Xiaoling Zhang, Tianxiao Huan, Chen Yao, Sai-Xia Ying, Quang Tri Nguyen, Cumhur Yusuf Demirkale, Michael L Feolo, Nataliya R Sharopova, Anne Sturcke, Alejandro A Schäffer, Nancy Heard-Costa, Han Chen, Po-Ching Liu, Richard Wang, Kimberly A Woodhouse, Kahraman Tanriverdi, Jane E Freedman, Nalini Raghavachari, Josée Dupuis, Andrew D Johnson, Christopher J O'Donnell, Daniel Levy, Peter J Munson
BACKGROUND: Identification of single nucleotide polymorphisms (SNPs) associated with gene expression levels, known as expression quantitative trait loci (eQTLs), may improve understanding of the functional role of phenotype-associated SNPs in genome-wide association studies (GWAS). The small sample sizes of some previous eQTL studies have limited their statistical power. We conducted an eQTL investigation of microarray-based gene and exon expression levels in whole blood in a cohort of 5257 individuals, exceeding the single cohort size of previous studies by more than a factor of 2...
January 25, 2017: Genome Biology
https://www.readbyqxmd.com/read/28079726/the-charter-on-professionalism-for-health-care-organizations
#8
Barry E Egener, Diana J Mason, Walter J McDonald, Sally Okun, Meg E Gaines, David A Fleming, Bernie M Rosof, David Gullen, May-Lynn Andresen
In 2002, the Physician Charter on Medical Professionalism was published to provide physicians with guidance for decision making in a rapidly changing environment. Feedback from physicians indicated that they were unable to fully live up to the principles in the 2002 charter partly because of their employing or affiliated health care organizations. A multistakeholder group has developed a Charter on Professionalism for Health Care Organizations, which may provide more guidance than charters for individual disciplines, given the current structure of health care delivery systems...
January 10, 2017: Academic Medicine: Journal of the Association of American Medical Colleges
https://www.readbyqxmd.com/read/28062664/mapping-eqtls-with-rna-seq-reveals-novel-susceptibility-genes-non-coding-rnas-and-alternative-splicing-events-in-systemic-lupus-erythematosus
#9
Christopher A Odhams, Andrea Cortini, Lingyan Chen, Amy L Roberts, Ana Viñuela, Alfonso Buil, Kerrin S Small, Emmanouil T Dermitzakis, David L Morris, Timothy J Vyse, Deborah S Cunninghame Graham
Studies attempting to functionally interpret complex-disease susceptibility loci by GWAS and eQTL integration have predominantly employed microarrays to quantify gene-expression. RNA-Seq has the potential to discover a more comprehensive set of eQTLs and illuminate the underlying molecular consequence. We examine the functional outcome of 39 variants associated with Systemic Lupus Erythematosus (SLE) through the integration of GWAS and eQTL data from the TwinsUK microarray and RNA-Seq cohort in lymphoblastoid cell lines...
March 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28059881/people-with-spinal-cord-injury-in-germany
#10
Melanie Blumenthal, Veronika Geng, Christoph Egen, Christoph Gutenbrunner
No abstract text is available yet for this article.
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28059877/rehabilitation-services-provision-and-payment
#11
Christoph Gutenbrunner, Melanie Blumenthal, Veronika Geng, Christoph Egen
Persons with spinal cord injury (SCI) experience disability and have significant need for rehabilitation. To deliver appropriate rehabilitation, interventions and programs suitable services must exist. A prerequisite for system improvement is a description of rehabilitation services. The aim of this paper was to develop a rehabilitation service framework for SCI. Additionally, principles and models of payment of rehabilitation services will be discussed. Health-related rehabilitation services should be available along the continuum of care and implemented at all levels of health care...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/27854531/health-and-social-conditions-of-the-poorest-versus-wealthiest-counties-in-the-united-states
#12
Olivia Egen, Kate Beatty, David J Blackley, Katie Brown, Randy Wykoff
OBJECTIVES: To more clearly articulate, and more graphically demonstrate, the impact of poverty on various health outcomes and social conditions by comparing the poorest counties to the richest counties in the United States and to other countries in the world. METHODS: We used 5-year averages for median household income to form the 3141 US counties into 50 new "states"-each representing 2% of the counties in the United States (62 or 63 counties each). We compared the poorest and wealthiest "states...
January 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/27797919/%C3%AE-e%C3%AE-7-integrin-identifies-subsets-of-pro-inflammatory-colonic-cd4-t-lymphocytes-in-ulcerative-colitis
#13
Christopher A Lamb, John C Mansfield, Gaik W Tew, Deena Gibbons, Anna K Long, Peter Irving, Lauri Diehl, Jeff Eastham-Anderson, Maria B Price, Graeme O'Boyle, David E J Jones, Sharon O'Byrne, Adrian Hayday, Mary E Keir, Jackson G Egen, John A Kirby
BACKGROUND AND AIMS: The αEβ7 integrin is crucial for retention of T lymphocytes at mucosal surfaces through its interaction with E-cadherin. Pathogenic or protective functions of these cells during human intestinal inflammation, such as ulcerative colitis [UC], have not previously been defined, with understanding largely derived from animal model data. Defining this phenotype in human samples is important for understanding UC pathogenesis and is of translational importance for therapeutic targeting of αEβ7-E-cadherin interactions...
October 20, 2016: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/27618120/early-workplace-intervention-to-improve-the-work-ability-of-employees-with-musculoskeletal-disorders-in-a-german-university-hospital-results-of-a-pilot-study
#14
Monika Schwarze, Christoph Egen, Christoph Gutenbrunner, Stephanie Schriek
Health promotion is becoming increasingly important in work life. Healthcare workers seem to be at special risk, experiencing musculoskeletal disorders (MSD); their situation is strongly influenced by demographic changes. The aim of this study is to evaluate the feasibility and outcome of a worksite intervention. In a one-group pretest-posttest design, 118 employees of a hospital were recruited from 2010 to 2011. The raised parameters were satisfaction with the program, work ability (Work Ability Index), and sickness absence (provided by human resource management)...
September 7, 2016: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/27307612/using-genomic-annotations-increases-statistical-power-to-detect-egenes
#15
Dat Duong, Jennifer Zou, Farhad Hormozdiari, Jae Hoon Sul, Jason Ernst, Buhm Han, Eleazar Eskin
MOTIVATION: Expression quantitative trait loci (eQTLs) are genetic variants that affect gene expression. In eQTL studies, one important task is to find eGenes or genes whose expressions are associated with at least one eQTL. The standard statistical method to determine whether a gene is an eGene requires association testing at all nearby variants and the permutation test to correct for multiple testing. The standard method however does not consider genomic annotation of the variants. In practice, variants near gene transcription start sites (TSSs) or certain histone modifications are likely to regulate gene expression...
June 15, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27193597/mapping-adipose-and-muscle-tissue-expression-quantitative-trait-loci-in-african-americans-to-identify-genes-for-type-2-diabetes-and-obesity
#16
Satria P Sajuthi, Neeraj K Sharma, Jeff W Chou, Nicholette D Palmer, David R McWilliams, John Beal, Mary E Comeau, Lijun Ma, Jorge Calles-Escandon, Jamehl Demons, Samantha Rogers, Kristina Cherry, Lata Menon, Ethel Kouba, Donna Davis, Marcie Burris, Sara J Byerly, Maggie C Y Ng, Nisa M Maruthur, Sanjay R Patel, Lawrence F Bielak, Leslie A Lange, Xiuqing Guo, Michèle M Sale, Kei Hang K Chan, Keri L Monda, Gary K Chen, Kira Taylor, Cameron Palmer, Todd L Edwards, Kari E North, Christopher A Haiman, Donald W Bowden, Barry I Freedman, Carl D Langefeld, Swapan K Das
Relative to European Americans, type 2 diabetes (T2D) is more prevalent in African Americans (AAs). Genetic variation may modulate transcript abundance in insulin-responsive tissues and contribute to risk; yet, published studies identifying expression quantitative trait loci (eQTLs) in African ancestry populations are restricted to blood cells. This study aims to develop a map of genetically regulated transcripts expressed in tissues important for glucose homeostasis in AAs, critical for identifying the genetic etiology of T2D and related traits...
August 2016: Human Genetics
https://www.readbyqxmd.com/read/27056113/the-performance-of-the-upper-limb-scores-correlate-with-pulmonary-function-test-measures-and-egen-klassifikation-scores-in-duchenne-muscular-dystrophy
#17
COMPARATIVE STUDY
Ha Neul Lee, Hemant Sawnani, Paul S Horn, Irina Rybalsky, Lani Relucio, Brenda L Wong
The Performance of the Upper Limb scale was developed as an outcome measure specifically for ambulant and non-ambulant patients with Duchenne muscular dystrophy and is implemented in clinical trials needing longitudinal data. The aim of this study is to determine whether this novel tool correlates with functional ability using pulmonary function test, cardiac function test and Egen Klassifikation scale scores as clinical measures. In this cross-sectional study, 43 non-ambulatory Duchenne males from ages 10 to 30 years and on long-term glucocorticoid treatment were enrolled...
April 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26930423/clinical-trial-readiness-in-non-ambulatory-boys-and-men-with-duchenne-muscular-dystrophy-mda-dmd-network-follow-up
#18
Anne M Connolly, Julaine M Florence, Craig M Zaidman, Paul T Golumbek, Jerry R Mendell, Kevin M Flanigan, Peter I Karachunski, John W Day, Craig M McDonald, Basil T Darras, Peter B Kang, Catherine A Siener, Rebecca K Gadeken, Pallavi Anand, Jeanine R Schierbecker, Elizabeth C Malkus, Linda P Lowes, Lindsay N Alfano, Linda Johnson, Alina Nicorici, Jason M Kelecic, Janet Quigley, Amy E Pasternak, J Philip Miller
INTRODUCTION: Outcomes sensitive to change over time in non-ambulatory boys/men with Duchenne muscular dystrophy (DMD) are not well-established. METHODS: Subjects (n = 91; 16.8 ± 4.5 years old) were assessed at baseline and 6-month intervals for 2 years. We analyzed all subjects using an intent-to-treat model and a subset of stronger subjects with Brooke Scale score ≤4, using repeated measures. RESULTS: Eight patients (12-33 years old) died during the study...
October 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/26522261/association-between-response-to-etrolizumab-and-expression-of-integrin-%C3%AE-e-and-granzyme-a-in-colon-biopsies-of-patients-with-ulcerative-colitis
#19
COMPARATIVE STUDY
Gaik W Tew, Jason A Hackney, Deena Gibbons, Christopher A Lamb, Diana Luca, Jackson G Egen, Lauri Diehl, Jeff Eastham Anderson, Severine Vermeire, John C Mansfield, Brian G Feagan, Julian Panes, Daniel C Baumgart, Stefan Schreiber, Iris Dotan, William J Sandborn, John A Kirby, Peter M Irving, Gert De Hertogh, Gert A Van Assche, Paul Rutgeerts, Sharon O'Byrne, Adrian Hayday, Mary E Keir
BACKGROUND & AIMS: Etrolizumab is a humanized monoclonal antibody against the β7 integrin subunit that has shown efficacy vs placebo in patients with moderate to severely active ulcerative colitis (UC). Patients with colon tissues that expressed high levels of the integrin αE gene (ITGAE) appeared to have the best response. We compared differences in colonic expression of ITGAE and other genes between patients who achieved clinical remission with etrolizumab vs those who did. METHODS: We performed a retrospective analysis of data collected from 110 patients with UC who participated in a phase 2 placebo-controlled trial of etrolizumab, as well as from 21 patients with UC or without inflammatory bowel disease (controls) enrolled in an observational study at a separate site...
February 2016: Gastroenterology
https://www.readbyqxmd.com/read/26461127/-evolution-of-functional-capacity-assessed-with-the-egen-klassifikation-scale-in-the-spanish-population-with-spinal-muscular-atrophy-or-duchenne-muscular-dystrophy-a-three-year-longitudinal-study
#20
J Fagoaga, M Girabent-Farres, C Bagur-Calafat, B F Steffensen
INTRODUCTION: Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two neuromuscular diseases which evolve with a progressive loss of muscle strength and, therefore, the loss of functional capacity. The valuation measurement scales are used to understand better and to quantify this involution as well as making treatment to anticipate problems and improve the quality of life of people suffering from these diseases. AIM: To study the changes in the functional capacity of a group of patients with SMA and DMD, over a period of three years...
October 16, 2015: Revista de Neurologia
keyword
keyword
65284
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"