Abstract: Glycolipid mimics which include a rigid hydrophobic moiety are disclosed. Methods of using the glycolipid mimics are also disclosed.

Abstract: A method of assaying for a ligand in a sample which includes incubating, simultaneously or in any desired sequence,a) the sampleb) a reagent X andc) a reagent Y immobilised on the surface of an optical structure capable of exhibiting surface plasmon resonance,one of reagents X and Y is a specific binding partner to said ligand and the other of reagents X and Y is either a ligand analogue or a specific binding partner to said ligand, reagent X being such, that any formation of a direct or indirect complex between reagents X and Y results in an optical surface having an appreciably enhanced optical thickness as compared to the optical thickness of the optical surface which would prevail in the absence of reagent X,which method includes the step of determining whether and, if desired, the extent to which and/or rate at which the surface plasmon resonance effect exhibited by the optical structure is altered by said complex formation.

Abstract: A modified DNA sequence encoding full length cystic fibrosis transmembrane conductance regulator protein is provided to facilitate propagation and/or expression of the protein in living cells and in particular, bacterial cells. The modified DNA sequence comprises at least one of the 13 base pair repeat of exon 6b of the normal gene encoding the conductance regulator protein, as one or more normal nucleotides of the 13 base repeat substituted with an alternate nucleotide which, however, continues to code for the corresponding normal amino acid. Mammalian cells transfected with a vector containing the modified DNA sequence enhances chlorine conductance through the cell wall.

Abstract: The identification, isolation, sequencing and characterization of two human presenilin genes, PS-1 and PS-2, mutations in which lead to Familial Alzheimer's Disease, are disclosed. Presenilin gene homologs in mice, C. elegans and D. melanogaster are also disclosed. Use of the nucleic acids and proteins comprising or derived from the presenilins in screening and diagnosing Alzheimer's Disease, identifying and developing therapeutics for treatment of Alzheimer's Disease, in producing cell lines and transgenic animals useful as models of Alzheimer's Disease. Methods for identifying substances that bind to, or modulate the activity of, a presenilin protein, functional fragment or variant thereof, or a mutein thereof, and methods for identifying substances that affect the interaction of a presenilin-interacting protein with a presenilin protein, functional fragment or variant thereof, or a mutein thereof, are further disclosed.

Abstract: The present invention describes the identification, isolation and cloning of two human presenilin genes, PS-1 and PS-2, mutations in which lead to Familial Alzheimer's Disease. Also identified are presenilin homologue genes in mice, C. elegans and D. melanogaster. Transcripts and products of these genes are useful in detecting and diagnosing Alzheimer's disease, developing therapeutics for treatment of Alzheimer's disease, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.

Abstract: A modified DNA sequence encoding full length cystic fibrosis transmembrane conductance regulator protein is provided to facilitate propagation and/or expression of the protein in living cells and in particular, bacterial cells. The modified DNA sequence comprises at least one of the 13 base pair repeat of exon 6b of the normal gene encoding the conductance regulator protein, as one or more normal nucleotides of the 13 base repeat substituted with an alternate nucleotide which, however, continues to code for the corresponding normal amino acid.

Abstract: The present invention describes the identification, isolation and cloning of two human presenilin genes, PS-1 and PS-2, mutations in which lead to Familial Alzheimer's Disease. Also identified are presenilin homologue genes in mice, C. elegans and D. melanogaster. Transcripts and products of these genes are useful in detecting and diagnosing Alzheimer's disease, developing therapeutics for treatment of Alzheimer's disease, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.

Abstract: The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human breast cancer predisposing gene (BRCA2), some mutant alleles of which cause susceptibility to cancer, in particular breast cancer. More specifically, the invention relates to germline mutations in the BRCA2 gene and their use in the diagnosis of predisposition to breast cancer. The present invention further relates to somatic mutations in the BRCA2 gene in human breast cancer and their use in the diagnosis and prognosis of human breast cancer. Additionally, the invention relates to somatic mutations in the BRCA2 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the BRCA2 gene, including gene therapy, protein replacement therapy and protein mimetics.

Abstract: This invention provides a novel purified TGF-.beta.-binding glycoprotein, endoglin, an isolated nucleic acid molecule that encodes an amino acid sequence corresponding to the TGF-.beta.-binding glycoprotein, soluble endoglin-derived polypeptide, and fragments thereof. A pharmaceutical composition which comprises the endoglin-derived polypeptide purified by applicants or produced by applicants' recombinant methods and a pharmaceutically acceptable carrier is further provided as well as methods of treating patients which comprise administering to the patient the pharmaceutical composition of this invention.

Abstract: A novel gene, AF1q, is described and its cDNA sequence provided. Methods are provided for detection of malignancies in humans by examining the level of expression of or the integrity of the AF1q gene.

Abstract: This invention provides a novel purified TGF-.beta.-binding glycoprotein, endoglin, an isolated nucleic acid molecule that encodes an amino acid sequence corresponding to the TGF-.beta.-binding glycoprotein, soluble endoglin-derived polypeptide, and fragments thereof. A pharmaceutical composition which comprises the endoglin-derived polypeptide purified by applicants or produced by applicants' recombinant methods and a pharmaceutically acceptable carrier is further provided as well as methods of treating patients which comprise administering to the patient the pharmaceutical composition of this invention.

Abstract: Fanconi Anemia is a human genetic disease, the precise cause of which is, to date, unknown. This invention provides an isolated human cDNA molecule which is able to specifically complement, in one type of Fanconi Anemia, (type C) the characteristic defect exhibited by cells derived from patients with Fanconi Anemia. The genomic gene from which this cDNA is derived is also provided as is the sequence of the protein encoded by this gene. Mutations in this gene are proposed to underlie Fanconi Anemia Type C. Diagnostic and therapeutic applications which derive from this work are described. The murine homolog of the human cDNA is also provided.

Abstract: Methods and compositions for preparation of frozen fermented food products using antifreeze polypeptide-expressing microorganisms are provided. In particular the invention provides for use of fish antifreeze polypeptide-expressing microorganisms in fermentation of milk to produce and store frozen yogurt.

Abstract: Compounds of the general structure ##STR1## are disclosed, wherein X is O, C.sub.n, NH, or S, wherein n is 1, 2, 3 or 4; R1 is OH, CH.sub.3, CH.sub.2 OH, N.sub.3 or CH.sub.2 N.sub.3 ; R3 is H or CH.sub.3 ; R5 is Y-R2, wherein Y is a six-carbon chain optionally containing up to three double or triple bonds or a mixture of double and triple bonds up to a maximum of three; R2 is C.sub.1 -C.sub.10 alkyl OH, C.sub.1 -C.sub.10 alkyl N.sub.3 or COOR4, wherein R4 is H, a branched or unbranched C.sub.1 -C.sub.10 alkyl (including substituted alkyl radicals), cycloalkyl, preferably C.sub.5 or C.sub.6 cycloalkyl, or a five- or six-membered aryl radical (including substituted aryl radicals), i.e. R2 is COOH or an ester of R4; R6 is a seven-carbon chain optionally containing up to three double or triple bonds or a mixture of double and triple bonds up to a maximum of three; and . . . . . . indicates a single, double or triple bond.

Abstract: An "all fish" chimeric gene construct suitable for gene transfer for commercially important fish comprises the antifreeze gene (AFP) promoter fused to the desired gene sequence which is incorporated into fish embryos. The desired gene sequence is expressed in the transfected fish to provide a transgenic fish having the characteristics of the gene sequence.

Abstract: A substantially homogeneous protein having cystic fibrosis transmembrane conductance regulator activity is provided. Also provided is a therapeutically effective composition for treating a subject having cystic fibrosis.

Abstract: A method for isolating a cDNA specific for the human ryanodine receptor is disclosed. The gene is associated with malignant hyperthermia, a hypermetabolic syndrome triggered primarily by inhalation anesthetics. The cDNA can be cloned and expressed in a recombinant plasmid or phage. The cDNA, or fragments thereof, is used as diagnostic probes for individuals at risk for malignant hyperthermia using restriction fragment length polymorphism analysis. The cDNA is that sequenced in FIG. 2 of this specification.

Abstract: The present invention relates to assay techniques for detection of ligands in solution and to means for putting such techniques into effect. In particular it relates to an improved assay technique which provides a liquid calibrator for use in standard assays in circumstances where the ligand itself is rare, expensive, or difficult to prepare in a sufficiently pure or quantifiable form.

Abstract: A method is disclosed for coating the surface of an optical structure, such as a diffraction grating, useful for the detection of a ligand, which method comprises forming on the surface of the optical structure a thin, uniform layer of a polymerizable material, particularly one which polymerizes on exposure to light or heat, and subsequently exposing said material to polymerizing conditions. A specific binding partner is subsequently absorbed on or bound to the cured polymer layer, either directly or indirectly. Complex formation between the specific binding partner and ligand present in the sample to be analyzed alters the optical properties of the device and the change forms the basis of an assay.

Abstract: A method is provided for increasing the level of free L-lysine in a plant comprising: (a) introducing a foreign gene into the cells of a plant tissue source; and (b) expressing said foreign gene in said cells, wherein a first DNA sequence of said gene encodes dihydrodipicolinic acid synthase (DHDPS) which is substantially resistant to feedback inhibition by endogenously-produced free L-lysine.