Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0155339 (Brown)
 12,436 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Technical development has produced a curious phenomenon, the ebbing of the moral imperative of reproduction. After 2000 years of fight against diseases and death, the respect for life has declined threatening the destruction of Western civilization and family by destroying unborn babies via abortion. Artificial in vitro experimentation can potentially lead to elimination of very young, old, or sick people. Dr. Bernard Nathanson in his book "Aborting America" called abortion infanticide, one of the most abominable crimes. The beginning of life start at conception as shown by recent extra-corporal, in vitro fertilization resulting in a viable fetus, as in the case of Luisa Brown who was conceived in a tube by Drs. Edwards' and Steptoe's technique. The creation of human embryo banks and experimentation on human embryos amount to biological pronography. Respect for the human species and reproduction should manifest itself in the fight against sterility and genetic diseases, such as muscular dystrophy, hemophilia, Down's syndrome, and Huntington's chorea. The fight against AIDS and the elimination of the risk of contracting it by contaminated blood is also a medical priority. In the end, the question still remains: can science itself save the world without moral imperatives, is not the dilemma of Faust and the vileness of Mephistopheles conjured with the nuclear experience and human experimentation.
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PMID:[The human meaning of life]. 250 45

Two cases of hereditary bleeding disorder diagnosed as haemophilia A were recently observed in Japanese Brown cattle. We sequenced the entire coding region of the factor VIII gene of the affected animals to find a causative mutation. A nucleotide substitution of T to A resulting in an amino acid substitution of leucine to histidine (p.Leu2153His) was identified in a highly conserved residue in the C1 domain of factor VIII. Genotyping of 254 normal animals including the pedigree of the affected animals and randomly sampled animals of different breeds confirmed that the substitution is the causative mutation of cattle haemophilia A.
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PMID:A missense mutation (p.Leu2153His) of the factor VIII gene causes cattle haemophilia A. 1945 18

The prothrombinase complex, composed of the protease factor (f)Xa and cofactor fVa, efficiently converts prothrombin to thrombin by specific sequential cleavage at 2 sites. How the complex assembles and its mechanism of prothrombin processing are of central importance to human health and disease, because insufficient thrombin generation is the root cause of hemophilia, and excessive thrombin production results in thrombosis. Efforts to determine the crystal structure of the prothrombinase complex have been thwarted by the dependence of complex formation on phospholipid membrane association. Pseutarin C is an intrinsically stable prothrombinase complex preassembled in the venom gland of the Australian Eastern Brown Snake (Pseudonaja textilis). Here we report the crystal structures of the fX-fV complex and of activated fXa from P textilis venom and the derived model of active pseutarin C. Structural analysis supports a single substrate binding channel on fVa, to which prothrombin and the intermediate meizothrombin bind in 2 different orientations, providing insight into the architecture and mechanism of the prothrombinase complex-the molecular engine of blood coagulation.
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PMID:Crystal structure of the prothrombinase complex from the venom of Pseudonaja textilis. 2413 80