Abstract: A human mutY polypeptide and DNA (RNA) encoding such polypeptide and a procedure for producing such polypeptide by recombinant techniques is disclosed. Also disclosed are methods for utilizing such polypeptide for preventing and/or treating diseases associated with a mutation in this gene. Diagnostic assays for identifying mutations in nucleic acid sequence encoding a polypeptide of the present invention and for detecting altered levels of the polypeptide of the present invention for detecting diseases, for example, cancer, are also disclosed.

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

Abstract: Patients with ErbB2-overexpressing cancers can be given an ErbB2 targeting agent as a therapeutic regimen but not all patients are responsive. The present invention concerns the diagnostic, prognostic and therapeutic methods and compositions for evaluating potential efficacy of an ErbB2 targeting agent in an ErbB2-overexpressing cancers by evaluating PTEN expression, which is predictive of responsiveness or resistance to ErbB2 targeting agents such as trastuzumab. Low PTEN expression is predictive of a patient who will respond poorly to trastuzumab.

Abstract: A human mutY polypeptide and DNA (RNA) encoding such polypeptide and a procedure for producing such polypeptide by recombinant techniques is disclosed. Also disclosed are methods for utilizing such polypeptide for preventing and/or treating diseases associated with a mutation in this gene. Diagnostic assays for identifying mutations in nucleic acid sequence encoding a polypeptide of the present invention and for detecting altered levels of the polypeptide of the present invention for detecting diseases, for example, cancer, are also disclosed.

Abstract: A screening method for identifying an individual having a pre-disposition towards having a cancer is disclosed, which screening method comprises the steps of: (a) obtaining a test sample comprising a nucleotide sequence comprised in the MYH gene of the individual or an amino acid sequence of a polypeptide expressed thereby; and (b) comparing a region of the test sample sequence with the corresponding region of the wild type sequence, whereby a difference between the test sample sequence and the wild type sequence signifies that the individual is pre-disposed to having the cancer; and wherein the difference comprises a specified variation.

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: A specific region of chromosome 10 (10q23.3) has been implicated by series of studies to contain a tumor suppressor gene involved in gliomas, as well as a number of other human cancers. One gene within this region was identified, and the corresponding coding region of the gene represents a novel 47 kD protein. A domain of this product has an exact match to the conserved catalytic domain of protein tyrosine phosphatases, indicating a possible functional role in phosphorylation events. Sequence analyses demonstrated the a number of exons of the gene were deleted in tumor cell lines used to define the 10q23.3 region, leading to the classification of this gene as a tumor suppressor. Further analyses have demonstrated the presence of a number of mutations in the gene in both glioma and prostate carcinoma cells. Methods for diagnosing and treating cancers related to this tumor suppressor, designated as TS10q23.3, also are disclosed.

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: The invention relates to compounds of Formula I and their therapeutic uses, wherein substituent A is chosen from a substituted or unsubstituted aryl, heteroaryl, heterocyclic, or carboxylic group, B is chosen from a substituted or unsubstituted piperidine, homopiperidine, piperazine, pyrrolidine or azetidine group, R1 is chosen from hydro, alkyl, aryl, heteroaryl amino and halo, and L1 and L2 are as defined in the specification.

Abstract: Protein complexes are provided comprising COX1 and one or more proteins selected from the group consisting of THR S14 and Opa1. The protein complexes are useful in screening assays for identifying compounds effective in modulating the protein complexes and in treating and/or preventing diseases and disorders associated with COX1 and its interacting partner proteins. In addition, methods of detecting the protein complexes and modulating the functions and activities of the protein complexes or interacting members thereof are also provided.

Abstract: A specific region of chromosome 10 (10q23.3) has been implicated by series of studies to contain a tumor suppressor gene involved in gliomas, as well as a number of other human cancers. One gene within this region was identified, and the corresponding coding region of the gene represents a novel 47 kD protein. A domain of this product has an exact match to the conserved catalytic domain of protein tyrosine phosphatases, indicating a possible functional role in phosphorylation events. Sequence analyses demonstrated the a number of exons of the gene were deleted in tumor cell lines used to define the 10q23.3 region, leading to the classification of this gene as a tumor suppressor. Further analyses have demonstrated the presence of a number of mutations in the gene in both glioma and prostate carcinoma cells. Methods for diagnosing and treating cancers related to this tumor suppressor, designated as TS10q23.3, also are disclosed.

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 invention provides a method of preventing, delaying, or reversing the progression of Alzheimer's disease by administering an A?42 lowering agent to a mammal under conditions in which levels of A?42 are selectively reduced, levels of A?38 are increased, and levels of A?40 are unchanged. The invention provides methods and materials for developing and identifying A?42 lowering agents. In addition, the invention provides methods for identifying agents that increase the risk of developing, or hasten progression of, Alzheimer's disease. The invention also provides compositions of A?42 lowering agents and antioxidants, A?42 lowering agents and non-selective secretase inhibitors, as well as A?42 lowering agents and acetylcholinesterase inhibitors.

Abstract: Protein complexes are provided comprising FAP48 and one or more FAP48-interacting proteins. The protein complexes are useful in screening assays for identifying compounds effective in modulating the protein complexes and in treating and/or preventing diseases and disorders associated with FAP48 and its interacting partners. In addition, methods of detecting the protein complexes and modulating the functions and activities of the protein complexes or interacting members thereof are also provided.

Abstract: Novel PN7718 protein and nucleic acids encoding PN7718 are provided. PN7718-containing protein complexes formed by PN7718 and a PN7718-interacting protein (e.g., cyclophilin C) are also provided. Cyclophilin C and PN7718 may be involved in common biological processes such as intracellular calcium signaling, beta-amyloid formation, T-cell receptor and IgE receptor signaling pathways, and protein folding and degradation. Thus, the protein complexes as well as PN7718 can be used in screening assays to select modulators of PN7718 and the protein complexes formed by PN7718 and cyclophilin C. The identified modulators can be useful in modulating the functions and activities of PN7718 and protein complexes containing PN7718, and in treating and preventing autoimmune diseases, neurological diseases and cardiovascular disorders.

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.