• 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Myogenin has been shown to interact with: MDFI, POLR2C, Serum response factor Sp1 transcription factor, and TCF3. (wikipedia.org)
  • mutation
  • 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)
  • 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)
  • serum
  • 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)
  • 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)
  • 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)
  • 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)
  • dysfunction
  • While functional anti-FceRIa and anti-lgE have the potential to play a role in histamine-mediated angioedema, C1 inhibitor (INH) deficiency or dysfunction, sometimes due to anti-C1 INH, plays a role in bradykinin (BK)-mediated angioedema. (thefreedictionary.com)
  • 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)
  • 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)
  • 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)
  • 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)
  • They include agents like vascular endothelial growth factor (VEGF) and blood vessel fibroblastic growth factor (bFGF). (thefreedictionary.com)
  • These factors are active in healing wounds, chronic inflammatory conditions, retrolental fibroplasia, and malignant tumors, which require new blood vessels for continued growth. (thefreedictionary.com)
  • Any of the factors involved in blood clotting. (thefreedictionary.com)
  • 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)
  • 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)
  • 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)
  • 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)
  • vascular
  • Hyperhomocysteinemia is an independent risk factor for peripheral vascular, 1 cerebrovascular, 2 and coronary artery 3 disease. (ahajournals.org)
  • 11 12 13 The vascular effects of physiological and diet-induced increments in plasma homocysteine have not been investigated previously. (ahajournals.org)