• Proteins
  • Coagulation factors are a group of related proteins that are essential for normal blood clotting (coagulation). (nih.gov)
  • Factor IXa, in turn, activates factor X. Inhibitors of factor XIa include protein Z-dependent protease inhibitor (ZPI, a member of the serine protease inhibitor/serpin class of proteins), which is independent of protein Z (its action on factor X, however, is protein Z-dependent, hence its name). (wikipedia.org)
  • The KNG1 gene uses alternative splicing to generate two different proteins: high-molecular-weight kininogen (HMWK) and low-molecular-weight kininogen (LMWK). (wikipedia.org)
  • Transforming growth factor beta (TGF-β) is a multifunctional cytokine belonging to the transforming growth factor superfamily that includes four different isoforms (TGF-β 1 to 4, HGNC symbols TGFB1, TGFB2, TGFB3, TGFB4) and many other signaling proteins produced by all white blood cell lineages. (wikipedia.org)
  • This leads to the activation of different downstream substrates and regulatory proteins, inducing transcription of different target genes that function in differentiation, chemotaxis, proliferation, and activation of many immune cells. (wikipedia.org)
  • Von Willebrand factor's primary function is binding to other proteins, in particular factor VIII, and it is important in platelet adhesion to wound sites. (wikipedia.org)
  • Genetic testing identifies changes in chromosomes, genes, or proteins. (wikipedia.org)
  • GCs affect cells by binding to the glucocorticoid receptor (GR). The activated GR complex, in turn, up-regulates the expression of anti-inflammatory proteins in the nucleus (a process known as transactivation) and represses the expression of proinflammatory proteins in the cytosol by preventing the translocation of other transcription factors from the cytosol into the nucleus (transrepression). (wikipedia.org)
  • Methionine
  • Methionine-free amino acid mix did not induce any changes. (ahajournals.org)
  • 5 Homocysteine is derived from the metabolism of the essential amino acid methionine. (ahajournals.org)
  • 10 Similarly, in normal human subjects, high-dose oral methionine (100 mg/kg), which increases plasma homocysteine by 3- to 4-fold, is accompanied by a reciprocal fall in brachial artery flow-mediated dilatation, 11 12 13 an effect likely to be mediated through oxidative stress mechanisms. (ahajournals.org)
  • In 1986, 44,940 U.S. male health professionals, aged 40 to 75 years and free from diagnosed cardiovascular disease, provided detailed information on usual dietary intake, including intake of folate, vitamins B 2 , B 6 and B 12 , and methionine. (onlinejacc.org)
  • 5-Methyltetrahydrofolate provides a methyl group for remethylation of the amino acid homocysteine to methionine, a vitamin B 12 -dependent reaction (1) . (onlinejacc.org)
  • It is a metalloproteinase that cleaves vWF between tyrosine at position 842 and methionine at position 843 (or 1605-1606 of the gene) in the A2 domain. (wikipedia.org)
  • inhibitor
  • Martin L, Raison-Peyron N, Nöthen MM, Cichon S, Drouet C. Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. (nih.gov)
  • Interestingly, these changes do not necessarily coincide with an altered ability to activate Factor X, demonstrating that inhibitor and macromolecular substrate selectivity may be engineered separately. (proteopedia.org)
  • Engineering the substrate and inhibitor specificities of human coagulation Factor VIIa. (proteopedia.org)
  • Experiments show inhibition of angiogenic effect by thymidine phosphorylase in the presence of 6-amino-5-chlorouracil, an inhibitor of thymidine phosphorylase, suggesting that the enzymatic activity of thymidine phosphorylase is required for its angiogenic activity. (wikipedia.org)
  • hemophilia
  • Deficiency is associated with a rare mild form of hemophilia (termed parahemophilia or Owren parahemophilia), the incidence of which is about 1:1,000,000. (wikipedia.org)
  • mutation
  • We examined the risk of coronary heart disease associated with homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase gene. (onlinejacc.org)
  • In this generally well-nourished population, men with the +/+ genotype for the C677T mutation in the methylenetetrahydrofolate reductase gene have no increase in risk of coronary heart disease, even when intake of folate or other B vitamins is low. (onlinejacc.org)
  • Carrier testing: Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. (wikipedia.org)
  • chromosomes
  • Definition A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. (prezi.com)
  • In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. (wikipedia.org)
  • It can provide information about a person's genes and chromosomes throughout life. (wikipedia.org)
  • diseases
  • Diseases Single gene disorder A single gene disorder is the result of a single mutated gene. (prezi.com)
  • Ho the Physician concluded that diseases are caused by deficiencies of elements (Wu Xing: fire, water, earth, wood, and metal), and he classified diseases as well as prescribed diets. (wikipedia.org)
  • Other causes include vitamin and mineral deficiencies, inherited conditions, and certain diseases that affect red cell production or destruction. (encyclopedia.com)
  • Today, tests involve analyzing multiple genes to determine the risk of developing specific diseases or disorders, with the more common diseases consisting of heart disease and cancer. (wikipedia.org)
  • circulates
  • Factor XII circulates in the bloodstream in an inactive form until it is activated, usually by coming in contact with damaged blood vessel walls. (nih.gov)
  • Factor XI (FXI) is produced by the liver and circulates as a homo-dimer in its inactive form. (wikipedia.org)
  • The molecule circulates in plasma as a single-chain molecule with a plasma half-life of 12-36 hours. (wikipedia.org)
  • hemostasis
  • Platelet polyphosphate-driven factor XII activation provides the link from primary hemostasis (formation of a platelet plug) to secondary hemostasis (fibrin meshwork formation). (wikipedia.org)
  • pulmonary
  • GATA2 deficiency has a broad phenotype encompassing immunodeficiency, MDS/AML, pulmonary disease, and vascular/lymphatic dysfunction. (bloodjournal.org)
  • 001). GATA2 deficiency unites susceptibility to MDS/AML, immunodeficiency, pulmonary disease, and vascular/lymphatic dysfunction. (bloodjournal.org)
  • Mice with homozygous disruptions in the corticotropin-releasing hormone gene (see below) die at birth due to pulmonary immaturity. (wikipedia.org)
  • prothrombin
  • She had suffered from nosebleeds and menorrhagia (excessive menstrual blood loss) for most her life, and was found to have a prolonged prothrombin time, suggesting either vitamin K deficiency or chronic liver disease leading to prothrombin deficiency. (wikipedia.org)
  • residue
  • Next, a nearby tyrosine residue deprotonates the ε-amino group of the lysine residue. (wikipedia.org)
  • The most common one of these, factor V Leiden, is due to the replacement of an arginine residue with glutamine at amino acid position 506 (R506Q). (wikipedia.org)
  • serum
  • 2009). "Short-term magnesium deficiency results in decreased levels of serum sphingomyelin, lipid peroxidation, and apoptosis in cardiovascular tissues. (downstate.edu)
  • Myogenin has been shown to interact with: MDFI, POLR2C, Serum response factor Sp1 transcription factor, and TCF3. (wikipedia.org)
  • Using Mary's serum as index, he found that the "missing" factor, which he labeled V (I-IV having been used in Morawitz' model), had particular characteristics. (wikipedia.org)
  • binds
  • Activated TGF-β complexes with other factors to form a serine/threonine kinase complex that binds to TGF-β receptors, which is composed of both type 1 and type 2 receptor subunits. (wikipedia.org)
  • elements of note are: the D'/D3 domain, which binds to factor VIII (Von Willebrand factor type D domain) the A1 domain, which binds to: platelet GPIb-receptor heparin possibly collagen the A2 domain, which must partially unfold to expose the buried cleavage site for the specific ADAMTS13 protease that inactivates vWF by making much smaller multimers. (wikipedia.org)
  • hyperhomocysteinemia
  • Hyperhomocysteinemia is an independent risk factor for peripheral vascular, 1 cerebrovascular, 2 and coronary artery 3 disease. (ahajournals.org)
  • In children with cystathionine-β-synthase deficiency and severe hyperhomocysteinemia 7 and in adults with moderate hyperhomocysteinemia, 8 9 chronically elevated homocysteine concentrations are associated with impaired endothelium-dependent vasodilatation. (ahajournals.org)
  • Complete MTHFR deficiency is rare and results in hyperhomocysteinemia and premature cardiovascular disease (CVD) (5) . (onlinejacc.org)
  • vascular
  • 11 12 13 The vascular effects of physiological and diet-induced increments in plasma homocysteine have not been investigated previously. (ahajournals.org)
  • Reduced activity of MTHFR increases homocysteine levels and consequently has been postulated to be a risk factor for vascular disease (4) . (onlinejacc.org)
  • Recent research also suggests that von Willebrand factor is involved in the formation of blood vessels themselves, which would explain why some people with von Willebrand disease develop vascular malformations (predominantly in the digestive tract) that can bleed excessively. (wikipedia.org)
  • clinical
  • A comprehensive examination of the clinical features of GATA2 deficiency is currently lacking. (bloodjournal.org)
  • The most commonly used anticoagulants in clinical practice, warfarin and the heparin series of anticoagulants and fondaparinux, act to inhibit the action of Factor Xa in various degrees. (wikipedia.org)
  • About 12 percent of people with type 1 diabetes have clinical depression. (wikipedia.org)
  • Mice
  • Furthermore, based on differential expression and complementation analysis using Selp (selectin-P) knock-out mice, Selp was identified as a strong candidate gene for the Ity3.2 sub-locus. (frontiersin.org)
  • As there is limited genetic variation within the classical inbred strains, the use of wild-derived strains of mice, such as MOLF/Ei contributes added genetic diversity and has allowed for the identification of novel genes that play an important role in innate immunity ( 10 - 13 ). (frontiersin.org)
  • transcription
  • Myogenin is a muscle-specific basic-helix-loop-helix (bHLH) transcription factor involved in the coordination of skeletal muscle development or myogenesis and repair. (wikipedia.org)
  • Myogenin is a member of the MyoD family of transcription factors, which also includes MyoD, Myf5, and Mrf4. (wikipedia.org)
  • physiologic
  • The elusive physiologic role of Factor XII. (nih.gov)
  • It must be noted, however, that hemoglobin decreases naturally (physiologic decrease) in infants by eight to 12 weeks of age, leveling at a normal value of 11 g/dL or better. (encyclopedia.com)
  • blood
  • Factor XII deficiency is an inherited condition characterized by a shortage of factor XII in the blood. (nih.gov)
  • Factor XII deficiency is typically discovered during routine blood testing because reduced levels of factor XII cause the blood to take longer to clot in a test tube. (nih.gov)
  • Hepatocytes express blood coagulation factor XII. (wikipedia.org)
  • Characterization of the human blood coagulation factor XII gene. (wikipedia.org)
  • TF_HUMAN ] Initiates blood coagulation by forming a complex with circulating factor VII or VIIa. (proteopedia.org)
  • Then the body tries to compensate for the iron deficiency by producing more red blood cells, which are characteristically small in size (spherocytosis). (encyclopedia.com)
  • Inborn deficiency of factor X is very rare (1:1,000,000), and may present with epistaxis (nosebleeds), hemarthrosis (bleeding into joints) and gastrointestinal blood loss. (wikipedia.org)
  • Therefore, vWF deficiency or dysfunction (von Willebrand disease) leads to a bleeding tendency, which is most apparent in tissues having high blood flow shear in narrow vessels. (wikipedia.org)
  • For example, people with a family history of polycystic kidney disease (PKD) who experience pain or tenderness in their abdomen, blood in their urine, frequent urination, pain in the sides, a urinary tract infection or kidney stones may decide to have their genes tested and the result could confirm the diagnosis of PKD. (wikipedia.org)
  • Other names in common use include pyrimidine phosphorylase, thymidine-orthophosphate deoxyribosyltransferase, animal growth regulators, blood platelet-derived endothelial cell, growth factors, blood platelet-derived endothelial cell growth factor, deoxythymidine phosphorylase, gliostatins, pyrimidine deoxynucleoside phosphorylase, and thymidine:phosphate deoxy-D-ribosyltransferase. (wikipedia.org)
  • disorder
  • Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder. (prezi.com)
  • The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the mutated gene. (prezi.com)
  • A woman who is a carrier of an X-linked recessive disorder (XRXr) has a 50% chance of having sons who are affected and a 50% chance of having daughters who carry one copy of the mutated gene and are therefore carriers. (prezi.com)
  • levels
  • Elevated homocysteine concentrations are found in almost one-third of all patients with atherosclerosis 4 and levels only 12% above the upper limit of normal (15 μmol/L) are associated with a 3-fold increase in the risk of acute myocardial infarction. (ahajournals.org)
  • Low levels of factor XI also occur in many other disease states, including Noonan syndrome. (wikipedia.org)
  • Finally, numerous subjects are completely asymptomatic despite very low factor VII levels. (proteopedia.org)
  • synthesis
  • Factor X is synthesized in the liver and requires vitamin K for its synthesis. (wikipedia.org)
  • This complex is the pro-coagulant factor Va. Factor V synthesis occurs in the liver, principally. (wikipedia.org)
  • PLP, the metabolically active form of vitamin B6, is involved in many aspects of macronutrient metabolism, neurotransmitter synthesis, histamine synthesis, hemoglobin synthesis and function, and gene expression. (wikipedia.org)
  • inflammation
  • Factor XII also plays a role in stimulating inflammation, a normal body response to infection, irritation, or other injury. (nih.gov)
  • This association can be explained by shared genetic factors, and inflammation or nutritional deficiencies caused by untreated celiac disease, even if type 1 diabetes is diagnosed first. (wikipedia.org)