Abstract: A method of diagnosing hereditary haemorrhagic telangiectasia (HHT) which includes the steps of: obtaining a sample of genomic DNA from a patient or fetus; and determining whether the DNA contains a mutation in a gene encoding endoglin, betaglycan, TGF-&bgr; type I receptor (RI), TGF-&bgr; type II receptor (RII), or TGF-&bgr;/activin type I receptor (TSR-I), such a mutation being an indication that the patient or fetus bears a gene making the patient or fetus susceptible to HHT.

Abstract: Hybrid compounds comprising a first domain and a second domain are provided. The first domain and the second domain are preferably covalently linked, and the first domain comprises a domain which is capable of specific binding to Gb3; and the second domain comprising a moiety selected from the group consisting of drug moiety, a nucleic acid, a probe, a polypeptide, and a hook, with the proviso that the second domain is not a verotoxin or a fragment thereof. Mehtods of preapring and using the hybrid compounds are also provided.

Abstract: The present invention relates to the identification, isolation and cloning of a mammalian polynucleotide which encodes a Alzheimer's related membrane protein (ARMP). The invention also contemplates mutant polynucleotides and polynucleotides that encode ARMP homologs. Vectors encoding the protein and host cells transfected with the vector are further contemplated by the present invention.

Abstract: The invention relates to hybrid nucleic acid molecules for gene therapy in cells of the erythroid lineage, and in particular &agr;-, &bgr;-, &dgr;-, &egr;, &ggr;-, or &zgr;-globin nucleotide sequences operably linked to &bgr;-globin regulatory elements. The hybrid nucleic acid molecules, at single copy, are capable of producing a polypeptide. The hybrid nucleic acid molecules are useful for treatment of hemoglobinopathies such as sickle cell anemia or &bgr;-thalassemia. The hybrid nucleic acid molecules are useful at single copy for erythroid expression at single copy of RNA and polypeptides in transgenic animals.

Abstract: A polypeptide is provided that has a secondary structure characterized by at least three beta-sheet/beta-turn structures, and that is not a naturally occurring fibrous protein. Such polypeptides, illustrated by one modeled on elastin, are useful in prosthesis.

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: Hybrid compounds comprising a first domain and a second domain are provided. The first domain and the second domain are preferably covalently linked, and the first domain comprises a domain which is capable of specific binding to Gb3; and the second domain comprising a moiety selected from the group consisting of drug moiety, a nucleic acid, a probe, a polypeptide, and a hook, with the proviso that the second domain is not a verotoxin or a fragment thereof. Mehtods of preapring and using the hybrid compounds are also provided.

Abstract: The present invention provides inter alia, isolated “sculpin-type intracellular AFPs” from shorthorn sculpin and their corresponding nucleic acids. The sculpin-type intracellular AFPs are alanine-rich polypeptides that are synthesized in the peripheral tissues such as the skin and gills of fish. These skin-type AFPs are encoded by a distinct set of AFP genes that lack a signal peptide, which is indicative of their intracellular location. The polypeptides are used to make cells cold resistant and to improve the palatability of cold foods and liquids. Cold resistant eukaryotes and prokaryotes, including plants, animals and bacteria are made using the sculpin-type intracellular antifreeze polypeptides and nucleic acids. Moreover, the present invention provides methods for preserving cells, tissues and organs ex vivo using the AFPs described herein.

Abstract: The invention pertains to methods for inhibiting angiogenesis. Diagnostic and therapeutic methods utilizing anti-angiogenic agents which bind Gb3 or CD77, e.g., verotoxins, are provided. Methods for treating multiple drug resistant tumors are also provided.

Abstract: An anti-inflammatory composition is provided. The composition comprises GM2 activator protein or a peptide derived from the GM2 activator protein which is capable of inhibiting platelet activating factor (PAF). The composition is useful in the treatment of inflammatory conditions such as inflammatory bowel disease and asthma.

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 invention consists of episomal expression cassettes for expression of a transgene in gene therapy. The expression cassettes consist of regulatory elements of the human cytokeratin gene and a transgene. The invention also includes of liposomes for transfection of epithelial tissue with the cassettes in treatment of cystic fibrosis, emphysema, cancers of epithelial origin arising in the lung or other organs.

Abstract: There is disclosed a chimeric mammal having a stable bone marrow graft of human hematopoietic cells capable of differentiating into multiple lineages of human mature cells, wherein at least 30% of the hematopoietic cells in the mammal's bone marrow are of human origin. The inventive method comprises sublethally irradiating an immunodeficient mammal, infusing human hematopoietic cells into the mammal and administering an effective amount of human mast cell growth factor (MGF) and a human granulocyte macrophage colony stimulating factor/interleukin-3 fusion protein (GM-CSF/IL-3 FP) to promote engraftment of human cells within the chimeric mammal's bone marrow.

Abstract: An adhesin protein which binds specifically to phosphatidylethanolamine (PE), gangliotriaosylceramide (Gg3) and gangliotetraosylceramide (Gg4) has been isolated and purified from H. influenzae. Also provided are immunogenic compositions and methods of protecting susceptible mammals from diseases caused by bacterial pathogens having the adhesin as a surface protein.

Abstract: The present invention describes the identification, isolation, cloning, and sequencing of the Alzheimer Related Membrane Protein (ARMP) gene for both normal and mutant forms. An analogous mouse gene, mARMP gene, has also been isolated, cloned, and sequenced. The gene transcript and gene products are used in developing DNA diagnosis for and detection of carriers of the gene, Alzheimer's Disease diagnosis, gene therapy, protein therapy, immunotherapy, as well as the isolation and manufacture of the protein and the development of transgenic animals carrying mutations in the ARMP gene.

Abstract: Methods and compositions are provided for preventing the development of a T cell mediated autoimmune disease such as Type I diabetes, in which susceptible subjects have T cells sensitized to a disease-related antigen. Subjects are treated by administration of the antigen or fragments thereof to prevent the expansion of the population of sensitized T cells. Alternatively, subjects are treated by administration of immunogenic compositions comprising a mimicry antigen or fragments thereof.

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: 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: The invention relates to stem cells isolated from the retina of mammals and retinal cells differentiated from these stem cells. The invention also relates to a method of isolating retinal stem cells and inducing retinal stem cells to produce retinal cells. Retinal stem cells may also be induced in vivo to produce retinal cells. The invention also includes pharmaceuticals made with retinal stem cells or retinal cells which may be used to restore vision lost due to diseases, disorders or abnormal physical states of the retina. The invention includes retinal stem cell and retinal cell culture systems for toxicological assays, for isolating genes involved in retinal differentiation or for developing tumor cell lines.

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.