Browsing HMS Scholarly Articles by Title
Now showing items 5949-5968 of 17922
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Exercise Is Associated with a Reduced Incidence of Sleep-Disordered Breathing
(Elsevier BV, 2012-05)Background The effect of exercise on sleep-disordered breathing is unknown. While diet and weight loss have been shown to reduce the severity of sleep-disordered breathing, it is unclear whether exercise has an independent ... -
Exhaled Breath Condensate Eicosanoid Levels Associate With Asthma and Its Severity
(Elsevier BV, 2013-09)Background The relationship between anti-inflammatory lipoxins and pro-inflammatory leukotrienes may be important in the pathobiology of asthma and its severity. Objective To investigate whether exhaled breath condensate ... -
Exhaled Nitric Oxide as a Diagnostic Test for Asthma: Online Versus Offline Techniques and Effect of Flow Rate
(American Thoracic Society, 2002-03-19)Measurement of the fraction of exhaled nitric oxide (FeNO) has been proposed as a noninvasive assessment of asthmatic airway inflammation. The influence of the expiratory flow rate during the collection maneuver on the ... -
Exhausting treadmill running causes dephosphorylation of sMLC2 and reduced level of myofilament MLCK2 in slow twitch rat soleus muscle
(BlackWell Publishing Ltd, 2015)Myosin light chain 2 (MLC2) is a small protein in the myosin complex, regulating muscle contractile function by modulating Ca2+ sensitivity of myofilaments. MLC2 can be modified by phosphorylation and O-GlcNAcylation, two ... -
Exogenous IFN-γ Ex Vivo Shapes the Alloreactive T-Cell Repertoire by Inhibition of Th17 Responses and Generation of Functional Foxp3+ Regulatory T Cells
(WILEY-VCH Verlag, 2008)Interferon (IFN)-γ was originally characterized as a pro-inflammatory cytokine with T helper type 1-inducing activity, but subsequent work has demonstrated that mice deficient in IFN-γ or IFN-γ receptor show exacerbated ... -
Exome and whole genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity
(2013)The incidence of esophageal adenocarcinoma (EAC) has risen 600% over the last 30 years. With a five-year survival rate of 15%, identification of new therapeutic targets for EAC is greatly important. We analyze the mutation ... -
An exome array study of the plasma metabolome
(Nature Publishing Group, 2016)The study of rare variants may enhance our understanding of the genetic determinants of the metabolome. Here, we analyze the association between 217 plasma metabolites and exome variants on the Illumina HumanExome Beadchip ... -
Exome arrays capture polygenic rare variant contributions to schizophrenia
(Oxford University Press, 2016)Schizophrenia is a highly heritable disorder. Genome-wide association studies based largely on common alleles have identified over 100 schizophrenia risk loci, but it is also evident from studies of copy number variants ... -
Exome Sequencing and Complex Disease: Practical Aspects of Rare Variant Association Studies
(Oxford University Press, 2012)Genetic association and linkage studies can provide insights into complex disease biology, guiding the development of new diagnostic and therapeutic strategies. Over the past decade, genetic association studies have largely ... -
Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis
(2013)Our understanding of focal and segmental glomerulosclerosis (FSGS) has advanced significantly from the studies of rare, monogenic forms of the disease. These studies have demonstrated the critical roles of multiple aspects ... -
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
(Springer Science and Business Media LLC, 2019-05-22)By identifying molecular alterations causally associated with human traits, studies of naturally occurring genetic variation can yield crucial clues about disease pathogenesis. Protein-coding variants that strongly affect ... -
Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background
(Cold Spring Harbor Laboratory Press, 2015)Lymphoma is the most common hematological malignancy in developed countries. Outcome is strongly determined by molecular subtype, reflecting a need for new and improved treatment options. Dogs spontaneously develop lymphoma, ... -
Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences
(Nature Publishing Group, 2014)Pleuropulmonary blastoma is a rare childhood malignancy of lung mesenchymal cells that can remain dormant as epithelial cysts or progress to high-grade sarcoma. Predisposing germline loss-of-function DICER1 variants have ... -
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia
(Cold Spring Harbor Laboratory Press, 2016)Whole-exome sequencing is increasingly used for diagnosis and identification of appropriate therapies in patients. Here, we present the case of a 3-yr-old male with a lifelong and severe transfusion-dependent anemia of ... -
Exome sequencing to identify de novo mutations in sporadic ALS trios
(2013)ALS is a devastating neurodegenerative disease whose causes are still poorly understood. To identify additional genetic risk factors, here we assess the role of de novo mutations in ALS by sequencing the exomes of 47 ALS ... -
Exome Sequencing-Driven Discovery of Coding Polymorphisms Associated with Common Metabolic Phenotypes
(Springer-Verlag, 2013)Aims/hypothesis: Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% ... -
Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population
(Public Library of Science, 2014)Endometrial cancer (EC) contributes substantially to total burden of cancer morbidity and mortality in the United States. Family history is a known risk factor for EC, thus genetic factors may play a role in EC pathogenesis. ... -
Exon expression profiling reveals stimulus-mediated exon use in neural cells
(BioMed Central, 2007)Background: Neuronal cells respond to changes in intracellular calcium ([Ca2+]i) by affecting both the abundance and architecture of specific mRNAs. Although calcium-induced transcription and transcript variation have ... -
Exophiala Pneumonia Presenting with a Cough Productive of Black Sputum
(Hindawi Publishing Corporation, 2015)Exophiala species are black, yeast-like molds that can cause subcutaneous cysts as well as disseminated disease. Isolated pneumonia due to Exophiala species is extremely uncommon. We report a case of isolated Exophiala ... -
Exoskeletons and Orthoses: Classification, Design Challenges and Future Directions
(BioMed Central, 2009)For over a century, technologists and scientists have actively sought the development of exoskeletons and orthoses designed to augment human economy, strength, and endurance. While there are still many challenges associated ...