• Furthermore, senescent cells, with the secretory features known as the senescence-associated secretory phenotype (SASP), could produce proinflammatory cytokines, such as tumor necrosis factor- α (TNF- α ), interleukin-6 (IL-6), and monocyte chemoattractant protein1 (MCP-1), to greatly affect the neighboring cells [ 17 , 18 ]. (hindawi.com)
  • These secreted factors are collectively referred to as the senescence-associated secretory phenotype or the SASP. (sens.org)
  • Exploiting the functional genomics and bioinformatics studies paved the way in understanding the relationship between genotype and phenotype of an organism suffering from environmental stress. (intechopen.com)
  • Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. (cdc.gov)
  • In a nosological sense, the term phenotype can be used in clinical medicine for speaking about the presentation of a disease. (wikipedia.org)
  • A clinical phenotype would be the presentation of a disease in a given individual. (wikipedia.org)
  • It's also important for our health, as while we might not know it, everyone has a clinical phenotype. (jax.org)
  • Collectively, our clinical and disease phenotypes represent a huge amount of valuable information. (jax.org)
  • Methods: We performed biochemical and molecular analysis of type I (pro-) collagen in a cohort of seven patients referred with a clinical diagnosis of EDS and showing only subtle signs of OI. (amrita.edu)
  • 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)
  • Some patients have been described with a clinical phenotype consistent with type II sialidosis and a combined deficiency of neuraminidase and beta-galactosidase. (medscape.com)
  • As a heterogeneous lung disease, asthma materializes as a diverse number of clinical phenotypes that result from exposure to either atopic or nonatopic stimuli (Wenzel, 2012). (cdc.gov)
  • A child receives one of the three alleles from each parent, giving rise to six possible genotypes and four possible blood types (phenotypes) ( Table 2 ). (scialert.net)
  • While there are ongoing research projects to define new markers or causes of senescence, we do know that senescence can be induced by damage to DNA, shortening of telomeres (which are the protective caps at the end of DNA molecules), mitochondrial damage, and something called epigenetic factors, which refers to changes to our chromosomes that affect the way DNA is packaged and genes are expressed. (sens.org)
  • Individual genes can be identified through phenotypic inheritance patterns, but only if some variation is present in the phenotype. (thecanadianencyclopedia.ca)
  • three different genes may cause the same phenotype). (tripod.com)
  • The genes are strung together in a particular sequence or order and the position occupied by a particular gene is referred to as a locus , which is simply the location of the gene in relation to all of the other genes of the individual, analogous to a specific address on a street. (vin.com)
  • The order of the genes is constant and does not usually change unless there is a break in the DNA strand and subsequent reattachment of the segment in a different location, a process resulting in changes such as those which cytogeneticists (scientists and technologists who study chromosomes) refer to as translocations and inversions. (vin.com)
  • The mutated forms of these genes are referred to as oncogenes. (bmj.com)
  • Expressivity may be influenced by the environment and by other genes, so people with the same gene may vary in phenotype. (msdmanuals.com)
  • 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 other one is that mutation is any variation in the gene that causes an obvious change in phenotype whereas polymorphisms do not cause any obvious phenotypic variation. (tripod.com)
  • Discontinuous variation often can be explained genetically by different forms of a gene called alleles: in an example from peas, Y is the allele for the yellow phenotype, and y for green. (thecanadianencyclopedia.ca)
  • Because the Y allele is dominant (written as a capital) the Yy individual is yellow phenotype. (thecanadianencyclopedia.ca)
  • Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
  • introduced a new concept of CKD-associated secretory phenotype (CASP), which indicates that senescent renal cells could secrete SASP components of various cytokines such as IL-1, IL-6, and TNF- α [ 19 , 20 ]. (hindawi.com)
  • However, some immune cells are immunosuppressive or transform into immunosuppressive phenotypes under specific conditions, leading to the development of radioresistance. (nature.com)
  • Our research primarily focuses on tumor immunology, with a particular emphasis on understanding the behavior of Tumor-Associated Macrophages (TAMs) and is dedicated to finding novel targets that reprogram immunosuppressive and pro-metastatic Tumor-Associated Macrophages into an anti-tumor phenotype. (lu.se)
  • TAMs are plastic cells that exhibit a spectrum of states spanning from an anti-tumor/immunoactivating (sometimes referred to as M1-like) to a pro-tumor/immunosuppressive (sometimes referred to as M2-like) phenotype. (lu.se)
  • For example, the term 'phenotype' in the field of chronic obstructive pulmonary disease (COPD) means "a single or combination of disease attributes that describe differences between individuals with COPD as they relate to clinically meaningful outcomes", but nearly all specialities use this meaning in some way, like in asthma research. (wikipedia.org)
  • 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)
  • It is a clinically challenging phenotype that has been described following exposure to certain medications (nitrofurantoin and minocycline) after a long latency period of up to 2 years (4). (bsg.org.uk)
  • Penetrance refers to frequency of expression of a genotype regardless of severity of the phenotype. (tripod.com)
  • How genotype is translated into phenotype depends on penetrance and expressivity. (msdmanuals.com)
  • Penetrance refers to whether the gene is expressed or not. (msdmanuals.com)
  • Sex-limited inheritance, perhaps more correctly called sex-influenced inheritance, refers to special cases in which sex hormones and other physiologic differences between males and females alter the expressivity and penetrance of a gene. (msdmanuals.com)
  • Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. (cdc.gov)
  • 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)
  • We hypothesized the existence of distinct phenotype-based groups within the very heterogeneous population of patients of heart failure with preserved ejection fraction (HFpEF) and using an unsupervised hierarchical clustering applied to plasma concentration of various biomarkers. (karger.com)
  • We sought to characterize them as "biomarker phenotypes" and to conclude differences in their overall characteristics. (karger.com)
  • We hypothesized that "autoimmune encephalitides" may result from any brain inflammation concurring with the presence of brain antigen-directed autoantibodies, e.g., against N-methyl-D-aspartate-receptor NR1 (NMDAR1-AB), which are not causal of, but may considerably shape the encephalitis phenotype. (nature.com)
  • Genotype refers to the genetic makeup of the cells in the body, the actual biological traits that are inherited. (eatingdisorderhope.com)
  • Sex-limited inheritance is distinct from X-linked inheritance, which refers to traits carried on the X chromosome. (msdmanuals.com)
  • Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. (nih.gov)
  • This gene is associated to a phenotype (DumPY : shorter than wild-type). (nih.gov)
  • Humans have a long history of genetic adaptation that favors the storage of fat, drive to consume tasty, energy-dense foods, and restoration of body weight after weight loss - often referred to as the "Thrifty Gene" which promoted survival of the species. (eatingdisorderhope.com)
  • These alterations can take the form of epigenetic modifications, point mutations, translocations, amplifications or deletions and modify gene functions in ways that deregulate cellular signalling pathways leading to the cancer phenotype. (bmj.com)
  • Many factors can affect gene expression (and thus phenotypes). (msdmanuals.com)
  • That is, it refers to how many people with the gene have the trait associated with the gene. (msdmanuals.com)
  • NHGRI considered this problem in part through a workshop entitled "From Genome to Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease" as part of its strategic planning efforts . (nih.gov)
  • Immune-inflamed tumors are called hot tumors, while the latter two are collectively referred to as cold tumors, and they respond poorly to immunotherapy. (nature.com)
  • And if we become sick, the disease phenotype (what we refer to as symptoms) captures the differences from our healthy baseline. (jax.org)
  • 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)
  • these pathogen-antimicrobial combinations are then used to define the selected phenotypes. (cdc.gov)
  • The term "gut microbiome" is similar but refers to the genetic makeup of those organisms. (medscape.com)
  • When it comes to the causal relationship between the gut microbiome and obesity, the strongest available evidence has emerged from rodent models where it has been demonstrated that fecal microbiota transplantation can transfer the obese phenotype and that the gut microbiome plays a fundamental role in harvesting energy from the diet. (medscape.com)
  • The predominantly commensal collection of bacteria, fungi, archaea, protozoa, and viruses that inhabit multicellular organisms constitutes the microbiota, and their DNA is referred to as the microbiome. (cdc.gov)
  • The unit of record accessioned by ClinVar is the assessment made by the submitter about the relationship between variants and phenotypes, with supporting evidence. (nih.gov)
  • Thus ClinVar maintains standardized information about variants, diagnostic terms, phenotypic measures, methods of data acquisition, methods of data assessment, and evidence supporting the existence of the variant-phenotype relationship based on family studies, analyses of populations, or functional assays. (nih.gov)
  • ClinVar also reports data in other formats and with different organizing principles ( e. g. variant instead of variant-phenotype assessment). (nih.gov)
  • Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. (cdc.gov)
  • Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. (cdc.gov)
  • Data were obtained for 303 (94.1%) out of the 322 subjects and the median (interquartile range) follow-up duration, which was not significantly different across phenotypes (unpublished data) was 3.35 (2.01-4.25) yrs. (ersjournals.com)
  • This agglomeration of abnormalities has been referred to as the metabolic syndrome which can be identified by the presence of three of the five following variables: abdominal obesity, elevated triglyceride concentrations, low HDL-cholesterol levels, increased blood pressure and elevated fasting glucose. (researchgate.net)
  • Metabolic pathways that regulate TAM phenotypes. (lu.se)
  • One of the central problems in biology is understanding how genomic variation affects genome function to influence phenotypes. (nih.gov)
  • The project will dovetail with the NIH's previously established Alzheimer's Disease Sequencing Project (ADSP), with sequencing here referring to genomic sequencing. (newswise.com)
  • 4 According to the number of tumor-infiltrating lymphocytes, tumors can be divided into three phenotypes: immune-inflamed, immune-excluded, and immune-desert types. (nature.com)
  • Silencing of Mnks in TAMs reprograms them into an anti-tumor phenotype, entailing activation of TILs and induction of vessel normalization, which hampers distant metastasis. (lu.se)
  • We proposed already in 2011 that TAMs of an anti-tumoral phenotype located in the vicinity of tumor vessels (perivascular TAMs) promote vessel normalization that hampers metastatic dissemination. (lu.se)
  • The term "gut microbiota" refers to the bacteria, yeast, fungi, viruses, and bacteriophages that inhabit the human colon. (medscape.com)
  • These records represent aggregation of data by variant and interpreted phenotype combinations. (nih.gov)
  • The term muscular dystrophy (MD) refers to a heterogeneous group of genetic disorders that typically result in progressive degeneration followed by incomplete regeneration of skeletal muscles, ultimately resulting in the loss of contractile tissue. (medscape.com)
  • Patients and Methods Five women with CPHD were referred for fertility treatment after adequacy of hormone replacement was determined. (medscape.com)
  • The complementary concept in this regard is endotype, which refers to the pathogenesis of the disease ignoring its presentation. (wikipedia.org)
  • In this context, a phenotype would be any observable characteristic or trait of a disease, such as morphology, development, biochemical or physiological properties, or behavior, without any implication of a mechanism. (wikipedia.org)
  • Normally it refers to the presentation of a trait in an individual, but in this case it means the presentation of a disease entity. (wikipedia.org)
  • This latter strategy is referred to as disease tolerance and involves coordination between immune cells and tissue-specific structural cells to maximize host fitness in the face of disruption to homeostatic conditions ( 4 ). (frontiersin.org)
  • Increasing the amount and accessibility of computable data across systems supports better disease analysis by integrating genotype, phenotype and other data to further develop precision health. (jax.org)
  • Patients with type I disease have been referred to as having "cherry-red spot-myoclonus" syndrome. (medscape.com)
  • Of course we refer models were trained using 63 SRBCT ment or disease progression. (lu.se)
  • Environmental variation also contributes to continuous variation, so one of the analytical problems in studying such phenotypes is trying to partition continuous variation into genetic variation from environmental variation. (thecanadianencyclopedia.ca)
  • However, this trend did not reach statistical significance, probably due to the limited numbers of patients within these phenotypes. (ersjournals.com)
  • Patients developing features of acute liver failure (jaundice, encephalopathy, ascites, and coagulopathy) should be referred urgently to a liver transplant centre. (bsg.org.uk)
  • Basal macroautophagy (thereafter referred to as autophagy), a catabolic recycling system in cells, is key to maintaining cellular homeostasis and survival. (hindawi.com)
  • Your phenotype is brown hair (what you can see) even though your genotype contains cellular material for both. (eatingdisorderhope.com)
  • Our lab employs state-of-the-art molecular biology techniques, mouse models, and patient samples to uncover mechanisms that regulate TAM phenotypes. (lu.se)
  • If antibodies to any of the major HIV-1 antigens are present in the specimen in sufficient concentration, bands corresponding to the position of one or more of the following HIV-1 proteins (p) or glycoproteins (gp) will be seen on the nitrocellulose strip: p17, p24, p31, gp41, p51, p66, gp120, gp160 (number refers to apparent molecular mass in kilodaltons). (cdc.gov)
  • Phenotype refers to the expression of that genetic makeup - does whatever is contained within the genetic material of the person "show up" in that person? (eatingdisorderhope.com)
  • ClinVar archives each submission (the accession beginning with SCV), aggregates data by variant/phenotype pairs and accessions that relationship (RCV), adds information such as database identifiers and locations on multiple assemblies (RCV only) and also aggregates data by simple alleles or complex alleles (VariationID). (nih.gov)
  • Digital phenotyping refers to the in-situ quantification of the human phenotype using data from personal digital devices. (bvsalud.org)
  • Those figures refer to a metacentric 'replicated' chromosome. (tripod.com)
  • Kaplan-Meier analysis of survival by phenotype is presented in figure 1 . (ersjournals.com)
  • 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)
  • He referred to this phenomenon as "rust-enduring" and distinguished this phenotype from "rust-resistant" wheat ( 6 ). (frontiersin.org)
  • The lytic phenomenon is sometimes referred to as cell-mediated lympholysis (CML). (bvsalud.org)
  • According to the obtained heat map of this analysis, we concluded two distinctive biomarker phenotypes within the HFpEF. (karger.com)
  • Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos syndrome (EDS)-phenotype. (amrita.edu)
  • In contrast to MD, the term myopathy generally refers to acquired or congenital muscle disorders that typically do not demonstrate ongoing cycles of degeneration/regeneration, but still result in weakness and disability due to loss of contractile function. (medscape.com)
  • To justify expansion into these newly discovered lands and the subjugation of their inhabitants, Europeans established boundaries between themselves and others based on phenotype and constructed ideologies supporting their own cultural superiority. (encyclopedia.com)
  • Phenotype is a word used all the time by scientists and doctors, but rarely by others. (jax.org)
  • Based on these findings, we analysed mortality risks among phenotypes using Cox models (both unadjusted and adjusted for age) ( fig. 2 ). (ersjournals.com)
  • The absence of Kx antigen and reduction of Kell antigen is known as the "McLeod phenotype," and refers only to the red blood cells. (medlineplus.gov)