• Inhibition of neutrophil proteases inhibited neutrophil transmigration on geltrex mix, but not collagen I. These findings highlight the important role of the ECM in determining cell phenotype and response to inhibitors. (nature.com)
  • We are culturing human fat cells (adipocytes) and tumour cells together, to find out how adipocytes alter tumour cell phenotype and response to therapy. (otago.ac.nz)
  • In 2009, a research team demonstrated the feasibility of identifying genotype-phenotype associations using electronic health records (EHRs) linked to DNA biobanks. (wikipedia.org)
  • To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. (bvsalud.org)
  • The aim of this study was toassess genotype- phenotype correlations, focusing on the cardiac features and out-comes of interventions for cardiac conditions, in a single-center cohort of116 patients with molecularly confirmed diagnosis of RASopathy, and compare thesefindings with previously published data. (unicatt.it)
  • Patients with T2D were classified according to their LDL subfraction phenotype and inflammatory biomarkers (C-reactive protein, Interleukin-6, Interleukin-8, Transforming growth factor β 1 , Monocyte chemotactic protein 1, Leptin, Adiponectin) were evaluated according to the degree of glycemic control, LDL phenotype and other clinical characteristics. (biomedcentral.com)
  • Understanding the basic or specific biologic changes that ultimately lead to clinical disease in a test animal can help health assessors determine how well animal models might predict the similar adverse effect in humans. (cdc.gov)
  • Patients with multiple sclerosis are classified according to their clinical phenotype, with ~85% following a relapsing-remitting course (relapsing-remitting multiple sclerosis) characterized by recurrent, acute neurological deficits punctuating periods of latency or remission (Lublin and Reingold, 1996). (medscape.com)
  • Here, we report that two APOE-promoter single-nucleotide polymorphisms (SNPs) previously associated with AD also modify the POAG phenotype. (nih.gov)
  • Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. (bvsalud.org)
  • A genotype-phenotype correlation at the NF1 region 844-848 exists and will be valuable in the management and genetic counseling of a significant number of individuals. (bvsalud.org)
  • Our discovery of a novel independent prognostic factor in breast cancer highlights a correlation between tumor phenotype and immune contexture. (lu.se)
  • Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. (lu.se)
  • BRAINTEASER project aims to understand if different ecological factors can affect disease phenotype and progression of patients with amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS). Few studies investigated the spatial distribution of ALS or tried to understand how disease features can be modified by environmental factors. (co.rs)
  • Congenital heart disease (CHD) and hypertrophic cardiomyopathy (HCM) are com-mon features in patients affected by RASopathies. (unicatt.it)
  • Review of the cardiac phenotype in patients with Ellis-van Creveld syndrome reveals a characteristic pattern of atrioventricular canal defects with systemic and pulmonary venous abnormalities. (medscape.com)
  • The frequent association of these abnormalities is strongly reminiscent of the cardiac phenotype found in patients with heterotaxy syndromes. (medscape.com)
  • METHODS: Thirty children meeting DSM-IV bipolar disorder criteria (i.e. narrow phenotype PBD with defined manic episodes with elevated/expansive mood), 19 children meeting criteria for severe mood dysregulation (i.e. broad phenotype with chronic irritability, hyper-reactivity, and hyperarousal), and 19 controls completed a lottery startle paradigm involving reward (money) and punishment (loud noise). (virginia.edu)
  • Single SNP association methods test for association at a single SNP, ignoring the effect of other SNPs. (ox.ac.uk)
  • Mitochondrial haplotypes affect metabolic phenotypes in the Drosophila Genetic Reference Panel," Nature Metabolism , vol. 1, no. 12. (ista.ac.at)
  • An organism's phenotype results from two basic factors: the expression of an organism's genetic code (its genotype) and the influence of environmental factors. (wikipedia.org)
  • As described, continuous phenotypes generated with linear genetic models are not affected by this underestimation effect. (ox.ac.uk)
  • We are particularly interested in how RNAs present in sperm are capable of transmitting non-genetic information to their progeny, influencing offspring phenotype. (upenn.edu)
  • We are investigating the effect of geographic distribution on parasite population diversity in cercariae, and the effect parasite population genetic factors in association with host morbidity indicators. (imperial.ac.uk)
  • Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
  • In genetics, the phenotype (from Ancient Greek φαίνω (phaínō) 'to appear, show', and τύπος (túpos) 'mark, type') is the set of observable characteristics or traits of an organism. (wikipedia.org)
  • CONCLUSIONS: The failure to find differences in affect-modulated startle between control children and those with narrow or broad PBD phenotypes speaks to the methodological challenges associated with studying reward mechanisms in PBD. (virginia.edu)
  • Conclusions The effect of ESS on plaque progression is similar in all phenotypes and cannot be accurately assessed by standalone IVUS-VH which often misclassifies plaque morphology. (bmj.com)
  • Here, we report 162 individuals (129 unrelated probands and 33 affected relatives ) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons -Leu844, Cys845, Ala846, Leu847, and Gly848-located in the cysteine - serine -rich domain (CSRD). (bvsalud.org)
  • Collectively, these recurrent missense mutations affect â ¼0.8% of unrelated NF1 mutation -positive probands in the University of Alabama at Birmingham (UAB) cohort. (bvsalud.org)
  • Arrows mark the examined individuals: the heterozygous mother (I.2), 4 heterozygous children (II.1, II.8, II.11, II.12), the compound-heterozygous affected son (II.14), and 2 non-mutation carriers (II.2, II.6). (jamanetwork.com)
  • Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/ plexiform neurofibromas nor other tumors . (bvsalud.org)
  • Adopted male and female C57BL/6J mice that fasted for 24 h were included to examine the effect of fasting on myokine expression in slow-twitch soleus and fast-twitch tiabialis anterior (TA) skeletal muscle. (hku.hk)
  • Fasting reduced Fndc5 and Igf1 gene expression in soleus and TA muscles in both male and female mice without muscle phenotype or gender differences, but Il6, Mstn and Erfe expression was influenced by fasting with fibre type- and gender-dependent effects. (hku.hk)
  • Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity. (bvsalud.org)
  • The decreased expression and inhibition of nuclear transfer of GLI1 downregulated macrophage M1 polarization and osteoclast activation, the effect of which was achieved by modulation of DNA methyltransferases (DNMTs) via transcriptional regulation and protein interactions. (elifesciences.org)
  • The nature and extent of mitochondrial DNA variation in a population and how it affects traits is poorly understood. (ista.ac.at)
  • Either way, the term phenotype includes inherent traits or characteristics that are observable or traits that can be made visible by some technical procedure. (wikipedia.org)
  • This includes, 1) how small RNAs regulate gene expression in the male germline to support spermatogenesis and fertility, 2) how small RNAs are packaged into mature sperm, 3) how RNAs transmitted during fertilization are able to regulate early embryonic gene expression and development, and 4) how this regulation can alter developmental programs to produce a non-genetically inherited phenotype. (upenn.edu)
  • Many factors can affect gene expression (and thus phenotypes). (msdmanuals.com)
  • In addition, we demonstrated that blocking Notch pathway with DAPT could restore the phenotype of METTL3 deficient endothelial cells. (biomedcentral.com)
  • OBJECTIVES: To compare the efficacy and tolerability of tacrolimus and cyclosporine therapy for noninfectious posterior segment intraocular inflammation and to evaluate their effect on peripheral blood CD4(+) T-cell phenotype and activation status. (bvsalud.org)
  • In addition, peripheral blood CD4(+) T-cell phenotype and activation status were evaluated by flow cytometry before treatment and at 2, 4, and 12 weeks using CD69, chemokine receptor (CCR4, CCR5, and CXCR3), and intracellular cytokine (tumor necrosis factor alpha, interferon-gamma, and interleukin 10) expression. (bvsalud.org)
  • 2019. Maintaining a wild phenotype in a conservation hatchery program for Chinook Salmon: the effect of managed breeding on early male maturation. (critfc.org)
  • Objective: to assess the influence of SARS-CoV-2 mRNA vaccine on B-cell phenotypes in systemic sclerosis (SSc). (uniroma1.it)
  • A further layer of complexity exists because the wider tumour microenvironment (i.e. the body within which the tumour develops) alters with age and health, and is affected by systemic changes in metabolism, hormones and immunity. (otago.ac.nz)
  • Can ecological factors affect ALS disease phenotype and progression? (co.rs)
  • Plaque morphology was derived in each segment from IVUS-VH and OCT. Disease progression was defined as the presence of ≥2 out of the following criteria: reduction in lumen area, increase in plaque burden and change of plaque morphology to a more vulnerable phenotype. (bmj.com)
  • Low ESS was associated with plaque progression in all phenotypes. (bmj.com)
  • Platelets were isolated for phenotype analysis, and DNA was isolated from lymphocytes for genotype determination. (aacrjournals.org)
  • Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. (medlineplus.gov)
  • In people with X-linked thrombocytopenia, these signaling problems primarily affect platelets, impairing their development. (medlineplus.gov)
  • The sophisticated expression pattern of myokines would partially explain the complicated cross-talk between skeletal muscle and other organs in different genders and muscles phenotypes, and it is worth further investigation. (hku.hk)
  • The variable phenotype affects multiple organs. (medscape.com)
  • In addition, Methylated RNA Immunoprecipitation Sequencing technology (MeRIP-seq) was performed to screen downstream targets of METTL3 in endothelial cells and to fully clarify the specific underlying molecular mechanisms affecting the phenotype of cerebral AVM. (biomedcentral.com)
  • Moreover, knockdown of METTL3 significantly affected angiogenesis of the human endothelial cells. (biomedcentral.com)
  • Ultimately, the up-regulated downstream genes of Notch signaling pathway dramatically affected the angiogenesis of endothelial cells. (biomedcentral.com)
  • Aim To examine the effect of endothelial shear stress (ESS) on the dynamic changes in plaque phenotype. (bmj.com)
  • Rheumatoid arthritis (RA) is a common chronic inflammatory disease that currently affects approximately 75 million people worldwide. (elifesciences.org)
  • Although host susceptibility stress, (6) induces chronic inflam- benzene) that induce not only muta- factors have a modulating role in mation, (7) is immunosuppressive, tions but also a variety of epigenetic carcinogenesis and can affect un- (8) modulates receptor-mediated changes. (who.int)
  • Multiple sclerosis is a common, chronic demyelinating neurological disease primarily affecting young adults, with a prevalence of ~0.1% in the Caucasian population (Miller and Leary, 2007). (medscape.com)
  • Additionally, variants in this region seem to confer a high predisposition to develop malignancies compared with the general NF1-affected population (p = 0.0061). (bvsalud.org)
  • We show using a simple multi-locus odds model of complex disease that moderate to large effect sizes of causal variants may be estimated as relatively small effect sizes in single SNP association testing. (ox.ac.uk)
  • This underestimation effect is most severe for diseases influenced by numerous risk variants. (ox.ac.uk)
  • Expressivity may be influenced by the environment and by other genes, so people with the same gene may vary in phenotype. (msdmanuals.com)
  • Gene Prospector provides an online gateway for searching for evidence about human genes in relation to diseases, other phenotypes, and risk factors, and provides links to published literature and other online data sources. (cdc.gov)
  • Although mitochondrial haplotypes have no direct impact on mitochondrial respiration, some haplotypes are associated with stress- and metabolism-related phenotypes, including food intake in males. (ista.ac.at)
  • The toxic effect of a contaminant will be influenced by its toxicokinetic or pharmacokinetic properties (e.g., rates of absorption, distribution, metabolism, and elimination ). (cdc.gov)
  • D, T1-weighted coronal and axial brain magnetic resonance images of the affected compound heterozygous MC II.14 are shown to visualize the severe global brain atrophy. (jamanetwork.com)
  • The condition begets the potential for severe complications for the affected individual, especially in the neonatal period. (medscape.com)
  • Together, our findings provide new insight into population structure at the mitochondrial level and point to the importance of incorporating mitochondrial haplotypes in genotype-phenotype relationship studies. (ista.ac.at)
  • How is the tissue specificity of immune cells generated and how is it affected by environmental influences, plasticity and the tissue microenvironment? (mdc-berlin.de)
  • A review of the literature regarding age influences on the clearance of CYP3A substrates does suggest that age can affect the clearance of certain CYP3A substrates.CYP3A is responsible for a large number of endogenous metabolic reactions involving steroid hormones, and enzyme activity has been reported to be induced and/or inhibited in the presence of some sex steroids. (bvsalud.org)
  • Aging is a complex and multi-dimensional phenotype that affects all tissues of all organisms. (jax.org)
  • Behaviors and their consequences are also phenotypes, since behaviors are observable characteristics. (wikipedia.org)
  • Since many GWA studies apply single SNP analysis to dichotomous phenotypes, previously reported results potentially underestimate true effect sizes, thereby impeding identification of true effect SNPs. (ox.ac.uk)
  • Some behavioral phenotypes may characterize psychiatric disorders or syndromes. (wikipedia.org)
  • A heterozygous effect for PINK1 mutations in Parkinson's disease? (jamanetwork.com)
  • We found that fasting significantly affected many myokines in muscle. (hku.hk)
  • How mixtures of immune cells associate with cancer cell phenotype and affect pathogenesis is still unclear. (lu.se)
  • The effect of the HB vaccine inactivation process on the AIDS virus and two other human retroviruses (HTLV-I and HTLV-II) was studied. (cdc.gov)
  • The mechanistic data for all types of can be used to identify and organize fects (e.g. is able to induce genotox- ionizing radiation ( IARC, 2012f) are mechanistic information related to icity or affect similar pathways), but particularly informative with regard to cancer induction. (who.int)
  • No significant difference was detected with regard to effect on quality of life or CD4(+) T-cell phenotype. (bvsalud.org)
  • Associate Professor Margaret Currie is interested in how the tumour microenvironment affects tumour growth, tumour cell metastasis and tumour response to therapy. (otago.ac.nz)
  • Some usages of the term suggest that the phenome of a given organism is best understood as a kind of matrix of data representing physical manifestation of phenotype. (wikipedia.org)
  • A contaminant will produce adverse or toxic effects only if it (or its metabolites) reaches specific sites in the body at a dose and over a duration sufficient to produce an adverse non-cancer effect. (cdc.gov)
  • The aim of this study was to determine the association of inflammatory biomarkers with low-density lipoprotein (LDL) subfraction phenotype and glycemic control in subjects with T2D and poor glycemic control. (biomedcentral.com)
  • Subjects with T2D, especially those with LDL phenotype B and obesity, have higher levels of inflammatory biomarkers. (biomedcentral.com)
  • This provides the first evidence of self-referent phenotype matching through experimental manipulation of a recognition cue. (illinois.edu)
  • Another team of researchers characterize "the human phenome [as] a multidimensional search space with several neurobiological levels, spanning the proteome, cellular systems (e.g., signaling pathways), neural systems and cognitive and behavioural phenotypes. (wikipedia.org)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • My PhD research focused on the effect of PZQ on Schistosoma mansoni in natural and experimental settings in Uganda, starting in Oct 2003. (imperial.ac.uk)
  • Our in vitro data from immunofluorescence results demonstrated the effect of adenosine in the inflammatory response of gingival fibroblasts, typified by the expression of CXCL8- family of cytokines, including CXCL1. (openrepository.com)
  • We demonstrated the anti-inflammatory effect of adenosine on fibroblast phenotype typified by the decreased IL-1β-stimulated CXCL1 expression. (openrepository.com)
  • Data have been used to estimate the number of fetuses and infants with birth defects potentially related to Zika, provide information on the phenotype of congenital Zika syndrome, and plan for services for pregnant women, their infants, and families affected by Zika to ensure infants are linked to care. (cdc.gov)
  • X-linked thrombocytopenia is a bleeding disorder that primarily affects males. (medlineplus.gov)
  • Importantly, both lifestyle (diet and exercise) and pharmacological interventions that are known to alleviate peripheral IR effectively restore hippocampal neuroplasticity in rodent models of T2DM and AD, and this effect may be due to restoration of insulin signalling in the hippocampus. (nature.com)
  • Moreover, the impact of the presence of the atherogenic LDL subfraction phenotype, very common in T2D, on inflammatory markers has not been previously analyzed in these subjects. (biomedcentral.com)
  • The affected hairs are brittle and breakage is common, resulting in short hairs. (medscape.com)
  • Underestimated effect sizes in GWAS: fundamental limitations of single SNP analysis for dichotomous phenotypes. (ox.ac.uk)
  • Also, elevated levels of serum VLDL in preclinical NHL cases might have had an in vitro effect to increase ChE specific activity. (cdc.gov)