Abstract: This invention relates generally to the THAP1 gene and mutations in this gene, as well as the THAP1 protein and mutations in this protein, that are associated with dystonia. The invention relates to the identification, isolation, cloning and characterization of the DNA sequence corresponding to the wild type and mutant THAP1 genes, as well as isolation and characterization of their transcripts and gene products. The invention further relates to methods and kits useful for detecting mutations in THAP1 that are associated with dystonia, as well as to methods and kits useful for diagnosing dystonia. The present invention also relates to therapies for treating dystonia, including gene therapeutics and protein/antibody based therapeutics.

Abstract: The invention relates generally to the THAP1 gene and mutations in this gene, as well as the THAP1 protein and mutations in this protein, that are associated with dystonia. The invention relates to the identification, isolation, cloning and characterization of the DNA sequence corresponding to the wild type and mutant THAP1 genes, as well as isolation and characterization of their transcripts and gene products. The invention further relates to methods and kits useful for detecting mutations in THAP1 that are associated with dystonia, as well as to methods and kits useful for diagnosing dystonia. The present invention also relates to therapies for treating dystonia, including gene therapeutics and protein/antibody based therapeutics.

Abstract: The present invention provides an in vitro T-lymphopoiesis system in which a population of T-cells is produced from precursor cells expressing CD34. The T-lymphopoiesis system of the present invention produces a population of T-cells of which approximately 17-74% express CD2, approximately 1.5-34% express CD3, and approximately 16-61% express CD4, and approximately 0-15% express CD8. A method of producing such a population of T-cells in vitro, as well as various compositions including T-cells of the present invention, are also provided.

Abstract: An assay which is responsive to the levels of anti-p24 antibodies in serum samples is provided which comprises the steps of: (a) forming a test mixture comprising the sample and an antigen solution containing free p24 antigen within a predetermined concentration range: (b) incubating the test mixture under conditions whereby anti-p24 antibodies from the sample, if any, can react with the free p24 antigen to form antibody-antigen complexes; (c) determining the concentration of free p24 antigen remaining in the test mixture after the incubation; (d) determining the concentration of free p24 antigen in the antigen solution; and (e) calculating the difference between the concentration of free p24 antigen in the antigen solution and the concentration of freee p24 antigen in the test mixture after the incubation.The difference calculated in step (e) represents the "binding capacity" of the serum sample for p24 antigen.

Abstract: A process for the production of disubstituted bile acid analogs, including the disubstituted analogs of such bile acids as, lithocholic, hyodeoxycholic, cholic, chenodeoxycholic and ursodeoxycholic acids.This invention was made in the course of work performed under a grant from the U.S. National Heart Lung and Blood Institute.

Abstract: A compound of the formula, ##STR1## wherein R may be H or acyl; X may be H, acyl, or lower alkyl; Z may be H, hydroxy, or acyloxy; Y may be lower alkyl, aryl, alkyl substituted aryl or vinyl; and the non-toxic pharmaceutically acceptable salts thereof.This invention was made in the course of work performed under a grant from the United States National Heart Lung and Blood Institute.

Abstract: A compound of the formula, ##STR1## wherein R may be H or acyl; X may be H, acyl, or lower alkyl; Z may be H, hydroxy, or acyloxy; Y is lower alkyl; and the non-toxic pharmaceutically acceptable salts thereof.This invention was made in the course of work performed under a grant from the United States National Heart Lung and Blood Institute.

Abstract: This invention relates to steroid compounds having a D-ring side chain structure of the formula, ##STR1## wherein R.sub.1 may be ##STR2## or --C.sub.n H.sub.2n --, wherein n is an integer from 0 to 8; Y may be S, N, or O; x is and integer of from 1 to 3; and each Z may be the same or different and is selected from the group consisting of H, OH, alkyl, aryl, aralkyl, acyloxy, cycloalkyl, substituted alkyl, substituted aryl or substituted cycloalkyl.

Abstract: The extent of lysis or red blood cells treated with a test solution containing a known or suspected agglutinating factor, and preferably with a lipid, serves for blood typing and cross matching, and, in addition for the detection and semi-quantitation of tumor factors and of viruses including myxoviruses (influenza, mumps) and adenoviruses (herpes), and of antibodies to such viruses. The method involves as one step the agglutination of erythrocytes (RBC) as well as lysis. Consequently, it is useful for detecting agglutinating factors. An apparatus for carrying out the method automatically is described.