Abstract: The invention generally relates to a molecular classification of disease and particularly to molecular markers for cancer susceptibility and methods of use thereof. More specifically, the invention relates to the determination, screening, or classification of an individual's genetic risk for breast and ovarian cancer susceptibility.

Abstract: Genetic variants in the BRCA2 gene are disclosed which are useful as diagnosis biomarkers.

Abstract: The invention relate to the discovery of a depression associated AKAP9 predisposing variant. The invention provides for detecting the variant. The invention also provides methods for screening for antidepressants based on modulating AKAP9 mediated signaling.

Abstract: Variants in MYH gene are disclosed which can result in abnormal synthesis of MYH proteins and alteration of MYH activities. The invention provides methods for detecting the newly discovered genetic variants. Use of MYH genetic variants as biomarkers in diagnosing cancer and detecting a predisposition to cancer are also disclosed herein.

Abstract: The invention relates to copy number profile analysis. Specifically, copy number profile analysis is used to determine whether two or more separate tumors in a single individual are derived from a common source.

Abstract: Conformationally constrained compounds which mimic the secondary structure of reverse-turn regions of biologically active peptides and proteins are disclosed. Such reverse-turn mimetics have utility in the treatment of cell adhesion-indicated diseases, such as multiple sclerosis, atherosclerosis, asthma and inflammatory bowel disease.

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 depression predisposing gene, specifically the apoptotic protease activating factor 1 (APAF1) gene, some mutant alleles of which cause susceptibility to depression. More specifically, the invention relates to germline mutations in the APAF1 gene and their use in the diagnosis of predisposition to depression. The invention also relates to the prophylaxis and/or therapy of depression associated with a mutation in the APAF1 gene. The invention further relates to the screening of drugs for depression therapy. Finally, the invention relates to the screening of the APAF1 gene for mutations/alterations, which are useful for diagnosing the predisposition to depression.

Abstract: Variants in MYH gene are disclosed which can result in abnormal synthesis of MYH proteins and alteration of MYH activities. The invention provides methods for detecting the newly discovered genetic variants. Use of MYH genetic variants as biomarkers in diagnosing cancer and detecting a predisposition to cancer are also disclosed herein.

Abstract: Compounds and pharmaceutical compositions containing the same are provided, which are useful in therapeutic treatment or prevention of various diseases.

Abstract: There are disclosed ?-sheet mimetics and methods relating to the same for imparting or stabilizing the ?-sheet structure of a peptide, protein or molecule. In one aspect, ?-sheet mimetics are disclosed having utility as protease inhibitors in general and, more specifically, as serine protease inhibitors such as thrombin, elastase and Factor X inhibitors. In one embodiment, the ?-sheet mimetic is a thrombin inhibitor.

Abstract: The present invention provides novel methods for manipulating levels of expression of gene products using RNA interference (RNAi). The methods disclosed can be used to investigate gene function, to create disease-resistant organisms, and to treat disease.

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 depression predisposing gene, specifically the apoptotic protease activating factor 1 (APAF1) gene, some mutant alleles of which cause susceptibility to depression. More specifically, the invention relates to germline mutations in the APAF1 gene and their use in the diagnosis of predisposition to depression. The invention also relates to the prophylaxis and/or therapy of depression associated with a mutation in the APAF1 gene. The invention further relates to the screening of drugs for depression therapy. Finally, the invention relates to the screening of the APAF1 gene for mutations/alterations, which are useful for diagnosing the predisposition to depression.

Abstract: Conformationally constrained compounds that mimic the secondary structure of reverse-turn regions of biologically active peptides and proteins having the following structure are disclosed: wherein A, R1, R2, R2a and R3 are as defined herein. Such compounds have utility over a wide range of fields, including use as diagnostic and therapeutic agents. In particular, compounds of this invention are useful in pharmaceutical compositions as anti-inflammatory agents as well as inhibitors of central nervous disorders. Libraries containing the compounds of this invention are also disclosed, as well as methods for screening the same to identify biologically active members.

Abstract: Compounds which mimic the secondary structure of helical regions of biologically active peptides and proteins having the following structure: including pharmaceutically acceptable salts and stereoisomers thereof, wherein Y, A, B, R1 and R2 are as defined herein. Such compounds have utility over a wide range of applications, including use as diagnostic and therapeutic agents. In particular, compounds of this invention, and pharmaceutical compositions containing the same, are neurokinin (tachykinin) antagonists. Libraries containing the compounds of this invention are also disclosed, as well as methods for screening such libraries to identify biologically active members.

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 human diabetes mellitus predisposing gene, specifically the angiotensinogen (AGT) gene, some mutant alleles of which cause susceptibility to insulin-dependent diabetes mellitus (IDDM). More specifically, the invention relates to germline mutations in the AGT gene and their use in the diagnosis of predisposition to diabetes. The invention also relates to the prophylaxis and/or therapy of diabetes associated with a mutation in the AGT gene. The invention further relates to the screening of drugs for diabetes therapy. Finally, the invention relates to the screening of the AGT gene for mutations, which are useful for diagnosing the predisposition to diabetes.

Abstract: Methods and pharmaceutical compositions for treating, and delaying the onset of, viral infection, are provided.

Abstract: Reverse-turn mimetics and methods relating to the same having the following structure are disclosed: including pharmaceutically acceptable salts and stereoisomers thereof, wherein R1, R2, R3 and R4 are as defined herein. Such compounds have utility over a wide range of applications, including use as diagnostic and therapeutic agents. In particular, compounds of this invention, and pharmaceutical compositions containing such compounds, are neurokinin (tachykinin) antagonists. Libraries containing the reverse-turn mimetics of this invention are also disclosed.

Abstract: An assay and kit for determining the activity of an enzyme such as kinase, ATPase and GTPase is disclosed. The assay and kit are useful in drug screening to select modulators of such an enzyme.

Abstract: Disclosed are 4-arylamino-quinazolines and analogs thereof effective as activators of caspases and inducers of apoptosis. The compounds of this invention are useful in the treatment of a variety of clinical conditions in which uncontrolled growth and spread of abnormal cells occurs, and in particular to the use of these compounds in treating brain cancer.

Abstract: Isolated protein complexes are provided comprising Tsg101 and HIV GAG or GAGp6. The protein complexes are useful in screening assays for selecting compounds effective in modulating the Tsg101-HIV GAG or GAGp6 interaction within the protein complexes.