• PHIPO is a formal ontology of species-neutral phenotypes observed in pathogen-host interactions. (github.com)
  • The field of proteomics has advanced in parallel and offers promising new concepts for a modern interpretation of complex and nonlinear genotype-phenotype relationships. (rsc.org)
  • Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. (springer.com)
  • 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)
  • Ritchlin draws inspiration from pulmonology, which subtyped asthma into various phenotypes (for example, eosinophilic, allergic, intrinsic, exercise-induced) and "drilled down" on understanding underlying mechanisms to guide more specific treatment. (medscape.com)
  • Because subjects belonging to various phenotypes had marked differences in age at inclusion (median age 58-73 yrs) and because the observation period was relatively short, we hypothesised that age of death would be different among the phenotypes. (ersjournals.com)
  • Behavioural phenotypes are syndromes with a chromosomal or genetic aetiology, comprising both physiological and behaviour manifestations, including a distinctive social, linguistic, cognitive and motor profile. (herts.ac.uk)
  • Owing to the range of intellectual disability exhibited across behavioural phenotypes, it is important to assess cognitive functioning at an early stage, particularly when the level of intellectual disability may be borderline, as in the case of Sotos and Turner syndromes, so that educational intervention can be tailored to meet the individual's needs and maximize the individual's potential (Barnard et al. (herts.ac.uk)
  • Aberrant behaviours such as self-injury, screaming and aggression are common in behavioural phenotypes. (herts.ac.uk)
  • Anxiety and depression are frequently cited in the behavioural phenotypes of a number of syndromes (see Figure 2 ). (herts.ac.uk)
  • Some behavioral phenotypes may characterize psychiatric disorders or syndromes. (wikipedia.org)
  • In this paper, we will presents a literature review of research that has been developed on the neuropsychological aspects of DS, and that has contributed to characterize the neuropsychological phenotype of children with this syndrome, allowing interventions that focus on areas of potential and minimize areas of weakness. (bvsalud.org)
  • A European consortium identifies phenotypes for 320 genes, assigning new functions for half. (the-scientist.com)
  • This diagram displays phenotype observables (purple squares) that are shared between the given gene (yellow circle) and other genes (gray circles) based on the number of phenotype observables shared (adjustable using the slider at the bottom). (yeastgenome.org)
  • A previous study of C. elegans , funded by the SFARI Functional Screen of Autism-Associated Variants program , identified a number of associated phenotypes for a subset of genes linked to autism spectrum disorder (ASD). (sfari.org)
  • Rankin, Haas, Pavlidis and their collaborators used their machine vision system to rapidly quantify the effects of mutations in nearly 100 orthologs of ASD risk genes on 26 phenotypes in C. elegans . (sfari.org)
  • In follow-up experiments, they used the same paradigm to test the functionality of specific missense mutations observed in people with ASD and were also able to test for epistatic interactions between genes that had effects on the same phenotype. (sfari.org)
  • In addition to identifying habituation as an ASD-associated phenotype deserving more attention in future studies, the authors also applied the auxin-inducible degradation system to test for the ability of adult re-expression of risk genes to rescue phenotypes observed upon developmental loss of their gene products. (sfari.org)
  • The partially successful rescue of neuroligin-associated phenotypes suggests that this C. elegans -based model may be useful as an initial screen for genes whose critical roles are not solely developmental. (sfari.org)
  • We tested our newly defined phenotypes for association with genetic variants in genes shown to be associated with caries. (bvsalud.org)
  • 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)
  • Behaviors and their consequences are also phenotypes, since behaviors are observable characteristics. (wikipedia.org)
  • This terminology was based on the classical definition of "phenotype", referring to the observable characteristics (including respiratory manifestations and comorbidities) of patients. (ersjournals.com)
  • The skin clinical phenotypes of nonsteroidal anti-inflammatory drug (NSAID) hypersensitivity (NH) are very heterogeneous with several syndromes after NSAID intake, which include different symptoms, different organ involvement and different associated concomitant diseases and possibly different underlying pathophysiology and mechanisms. (intechopen.com)
  • Treatment modalities are depending on the clinical phenotypes of NH and they will embrace for each patient: the avoidance of culprit NSAID, the finding of well-tolerated NSAID and in certain cases, desensitization procedures when the NSAID treatment was absolutely needed as well as the control of associated diseases such as spontaneous chronic urticarial or allergic respiratory diseases. (intechopen.com)
  • In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. (springer.com)
  • We recently reported the usefulness of applying mathematical models ( i.e. principal component and cluster analyses) to multiple variables for the identification of clinical phenotypes in a cohort of COPD subjects [ 4 ]. (ersjournals.com)
  • These original analyses allowed the description of four COPD groups, which we called "clinical COPD phenotypes" [ 4 ]. (ersjournals.com)
  • Recently, a panel of experts proposed the following modified definition for clinical COPD phenotypes: "a single or combination of disease attributes that describes differences between individuals with COPD as they relate to clinically meaningful outcomes (symptoms, exacerbations, response to therapy, rate of disease progression, or death)" [ 2 , 3 ]. (ersjournals.com)
  • These authors suggested that, before being referred to as clinical phenotypes, clusters of related patients require longitudinal validation to determine how they differ with respect to important clinical outcomes [ 2 ]. (ersjournals.com)
  • Neuroblastoma tumor initiating cells are immature with a neural crest-like phenotype and downregulation of HIF-2alpha in these cells results in neuronal sympathetic differentiation and the cells become phenotypically similar to the bulk of neuroblastoma cells found in clinical specimens. (lu.se)
  • As high HIF-2alpha expression further correlates with disseminated disease as demonstrated in neuroblastoma, glioma, and breast carcinoma, we propose that targeting HIF-2alpha and/or the pseudo-hypoxic phenotype induced by HIF-2 under normoxic conditions has great clinical potential. (lu.se)
  • 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)
  • Reproducible quantifiable imaging features of GBM heterogeneity that explicitly examine links between the imaging findings and the underlying GBM phenotypes characteristics are identified. (hindawi.com)
  • Our aim was to establish whether or not major repeaters are a distinctive suicidal phenotype, taking into account a wide range of potential competing risks including sociodemographic characteristics, personal and familial history, psychiatric diagnoses, and personality traits. (psychiatrist.com)
  • A single RHD G667 C697 allele was present in 5 individuals with D Va category phenotype, and in 2 individuals we found a D-CE-D hybrid gene (exon 5 had been replaced). (karger.com)
  • Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. (springer.com)
  • In these cells, HIF-2 is active under nonhypoxic conditions as well, creating a pseudo-hypoxic phenotype with clear influence on tumor behavior. (lu.se)
  • But while interventions can be tailored to some extent to these domains, or phenotypes, there are limitations without an understanding of the different pathophysiology and mechanisms driving the heterogeneity in tissue involvement. (medscape.com)
  • Introduced quantitative histogram features can discriminate phenotype heterogeneity from MRI images and thereby strengthen personalized medicine in GBM [ 12 ]. (hindawi.com)
  • Longitudinal multi-omics measurements are highly valuable in studying heterogeneity in health and disease phenotypes. (nature.com)
  • Because forced expiratory volume in 1 s is a poor descriptor of chronic obstructive pulmonary disease (COPD) heterogeneity [ 1 ], interest has emerged regarding the identification of clinically relevant COPD phenotypes [ 2 , 3 ]. (ersjournals.com)
  • Variants were frequently familial, and genotype-phenotype analyses demonstrated striking interfamilial and intrafamilial variability. (springer.com)
  • As a result of thousands of genome-wide association studies (GWAS), we know now that common sequence variants contribute to complex human health phenotypes (e.g., blood pressure and lipid levels), and common diseases (e.g. cancer and heart disease). (cdc.gov)
  • Neuronal hyperexcitability in Alzheimer's disease: what are the drivers behind this aberrant phenotype? (nature.com)
  • In this paper, feature selection based on decision tree is examined to determine the relevant subset of glioblastoma (GBM) phenotypes in the statistical domain. (hindawi.com)
  • Then, we implemented the decision tree to define the optimal subset features of phenotype classifier. (hindawi.com)
  • 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)
  • Details can be found in our paper Efficient Phenotype Evaluation in Cartesian Genetic Programming presented at EuroGP 2012. (vutbr.cz)
  • The genetic background of the D Va category phenotype has been described in two Caucasian individuals. (karger.com)
  • In this paper, we first conducted a genome-wide association analysis by using the SNP genotype data and phenotype data provided by Genetic Analysis Workshop 17 , in order to filter significant SNPs associated with the diseases. (scirp.org)
  • Here, we report that CTL-mediated immune selection drives the evolution of tumor cells toward a CSC-like phenotype and that the CSC-like phenotype arises through the Akt signaling pathway via transcriptional induction of Tcl1a by Nanog. (jci.org)
  • Similar phenotype-endotype research has been done for chronic obstructive pulmonary disease , he said at the meeting, pointing to a phase 3 randomized controlled trial, published in the New England Journal of Medicine, that found dupilimab (Dupixent) was effective for patients with COPD who had type 2 inflammation as indicated by elevated eosinophil counts. (medscape.com)
  • Wood smoke COPD: a new description of a COPD phenotype? (flutrackers.com)
  • These overlapping systems of phenotype-based stratification are rooted in the European conquest, colonization, and enslavement of visibly different people from Africa, Asia , and Latin America beginning near the end of the fifteenth century. (encyclopedia.com)
  • Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype. (lu.se)
  • No participant fulfilled the atypical mole syndrome phenotype criteria. (lu.se)
  • The atypical mole syndrome phenotype was, however, not verified in the studied families and total naevus counts were low. (lu.se)
  • Neuroblastoma tumor initiating cells are immature with a neural crest-like phenotype and. (lu.se)
  • Behavioral phenotypes include cognitive, personality, and behavioral patterns. (wikipedia.org)
  • In light of recent research indicating hyperexcitability could be a predictive marker of cognitive dysfunction, we further argue that the hyperexcitability phenotype could be leveraged to improve the diagnosis and treatment of AD, and present potential targets for future AD treatment development. (nature.com)
  • This study demonstrated the ability of statistical features to provide a quantitative, individualized measurement of glioblastoma patient and assess the phenotype progression. (hindawi.com)
  • https://www.cdc.gov/nhsn/pdfs/ps-analysis-resources/aur/ar-phenotype-definitions-508.pdf. (cdc.gov)
  • 2. NHSN prints out the Facility Organization ID and a description of the AR phenotype being displayed in each table. (cdc.gov)
  • Our findings establish a firm link among immune selection, disease progression, and the development of a stem-like tumor phenotype in human cancer and implicate the Nanog/Tcl1a/Akt pathway as a central molecular target in this process. (jci.org)
  • The following are definitions for the phenotypes listed in the Antibiotic Resistance & Patient Safety Portal. (cdc.gov)
  • In other diseases of smooth muscle hyperplasia, epigenetic modifications, including DNA methylation and histone acetylation, affect smooth muscle phenotype and contribute to impaired tissue function. (queensu.ca)
  • These findings suggest that the altered contractile phenotype of ISMC is associated with epigenetic changes, including increased DNA methylation and histone deacetylation. (queensu.ca)
  • Based on these findings, we analysed mortality risks among phenotypes using Cox models (both unadjusted and adjusted for age) ( fig. 2 ). (ersjournals.com)
  • However, leading researchers in rheumatology and dermatology believe that they're turning the corner toward a day when therapies are phenotype-targeted and diagnosis can be made early and treatment begun well before inflammation worsens and pain and joint damage ensue. (medscape.com)
  • After the inflammation fades away, microglia shift into the alternative activated M2 phenotypes that play a role in neuroprotection. (frontiersin.org)
  • ISMC from human strictures showed a decreased contractile phenotype, with increased levels of DNMT1 and HDAC5. (queensu.ca)
  • It may seem that anything dependent on the genotype is a phenotype, including molecules such as RNA and proteins. (wikipedia.org)
  • No significant differences in gene expression of classical polarisation markers were found in ATMs, however differential gene expression of proteins involved in macrophage function and phenotype was found in Trib3KO BMDMs compared to wild type results among the different polarisation states. (bmj.com)
  • Rouillac C, Colin Y, Hughes JN, Beolet M, D'Ambrosio AM, Cartron JP, Le Van Kim C: Transcript analysis of D category phenotypes predicts hybrid Rh D-CE-D proteins associated with alteration of D epitopes. (karger.com)
  • Results: although the prevalence of individuals presenting hyperdivergent facial phenotype in the USA population (since no Brazilian epidemiologic is available) is considerably low, diagnosis and treatment are challenging. (bvsalud.org)
  • Most patients have multiorgan involvement at the time of diagnosis but tend to have one dominant phenotype. (msdmanuals.com)
  • Second, we conducted a bioinformatics analysis of gene-phenotype association matrix to identify gene modules (biclusters). (scirp.org)
  • We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. (springer.com)
  • Therefore, potentially, this phenotype could be harnessed to identify individuals at risk and start treatments before degeneration progresses too far. (nature.com)
  • Through simulations, Chifman and her collaborators found that overexpression of Ras, a central species in the oncogenic pathway, led to a cancer phenotype in the iron homeostasis pathway. (american.edu)
  • Subjects in phenotype 2 (older age, mild-to-moderate airflow obstruction and low rates of comorbidities) had a lower mortality, but no significant survival difference was found between phenotypes 1, 3 and 4. (ersjournals.com)
  • Kallikrein 4 (KLK4) was found to show a significant association with the created phenotypes (p = 0.0008 in a recessive model for low caries experience in the primary dentition vs. high caries experience in the primary dentition , and p = 0.0004 in a recessive model for caries free primary dentition vs. high caries experience in the primary dentition ). (bvsalud.org)
  • As a consequence of racial intermixture during the colonial era, phenotype in the contemporary Mexican-origin population ranges on a continuum from those who appear white to those who have dark skin, indigenous facial features, and shorter height than average. (encyclopedia.com)
  • Goal: the goal of the paper is to inform orthodontic professionals about the challenges to diagnose and to treat patients presenting hyperdivergent facial phenotype. (bvsalud.org)
  • Conclusion: settling of the hyperdivergent facial phenotype is complex and multifactorial. (bvsalud.org)
  • Conclusion The results obtained in this pilot study suggest a role for Trib3 in macrophages due to expression differences measured in Trib3 deficient BMDMs, linked to a pro-inflammatory macrophage phenotype. (bmj.com)
  • This report includes a set of tables that display the calculated prevalence rates for community-onset AR Events with susceptibility results reported from all outpatient locations to the AR Option that meet the definition for one of the 16 AR phenotypes. (cdc.gov)
  • Here, we are looking at the prevalence of outpatient antimicrobial resistance by phenotype (per 10,000 encounters). (cdc.gov)
  • This talk is part of the From Genotype to Phenotype: Resources and Challenges (10th June 2009, Hinxton) series. (cam.ac.uk)
  • siRNA treatment ameliorated the preeclamptic phenotype in both models, reduced blood pressure, and improved intrauterine growth restriction, with no observed deleterious effects on the fetus. (jci.org)
  • these pathogen-antimicrobial combinations are then used to define the selected phenotypes. (cdc.gov)
  • Recent progress in genomic sequencing has revealed genotype-phenotype information of enormous complexity and challenges earlier hypotheses on how phenotypes emerge from altered gene structures. (rsc.org)
  • Here we discuss the challenges and implications emerging from a modular protein landscape for a better understanding of complex genotype-phenotype patterns. (rsc.org)
  • Is the Subject Area "Phenotypes" applicable to this article? (plos.org)
  • In vitro, prolonged proliferation of ISMC results in loss of their normal contractile phenotype, including decreased expression of contractile markers and the neurotrophin glial cell-line derived neurotrophic factor (GDNF). (queensu.ca)
  • Microglia may be divided into four main states or phenotypes. (frontiersin.org)
  • The unadjusted model confirmed that phenotypes 1, 3 and 4 had a statistically significant two- to four-fold increase in mortality risk when compared with phenotype 2. (ersjournals.com)
  • PHIPO is being developed to support the comprehensive and detailed representation of phenotypes in PHI-base, the multi-species Pathogen-Host Interactions database available online at http://www.phi-base.org . (github.com)
  • Kaplan-Meier analysis of survival by phenotype is presented in figure 1 . (ersjournals.com)
  • however, animal and cell models have provided insights into some of the factors involved in this phenotype. (nature.com)
  • 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)
  • It provides an opportunity for students to analyze amino acid data and draw conclusions about the evolution of coat-color phenotypes in the rock pocket mouse. (berkeley.edu)
  • Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. (yeastgenome.org)