Abstract: Genetic markers associated with intellectual disability as well as compositions, methods and kits for screening for genetic markers intellectual disability, diagnosing intellectual disability and identifying individuals with a predisposition for offspring suffering from intellectual disability are provided.

Abstract: Aortic valve stenosis (AS) is a chronic process related to a progressive mineralization of the aortic root and valve cusps. We found in human AS valves a high level of expression and enzymatic activity of ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP-1), which correlated to the degree of mineralization. In vitro, inhibition of ENPP activity with ARL 67156 significantly reduced calcification of isolated valve interstitial cells. In a rat model of cardiovascular calcification, ARL 67156 significantly reduced calcification of the aortic root and valve cusps. This is the first study to demonstrate that increased expression and activity of ENPP-1 promotes the mineralization process in AS valves. Hence, inhibition of ectonucleotidase may represent a novel target of therapy for this frequent and serious cardiovascular disease.

Abstract: The invention relates to novel USP2a peptides and antibodies, as well as nucleic acids related to them. The peptides, antibodies and the nucleic acids are useful for the detection, staging and monitoring of the progression of cancer, as well as for determining or monitoring the efficacy of treatment.

Abstract: Disclosed are agents and methods that may be used to diagnose and treat a variety of diseases associated with conformationally-altered proteins. The agents and methods may be used to identify and deliver drugs useful for treating diseases associated with conformationally-altered proteins.

Abstract: In some aspects, the present invention provides compositions and methods relating at least in part to modulation of the Cohesin-Mediator interaction. The invention provides compositions and methods useful for modulating Cohesin-Mediator function. The invention further provides compositions and methods useful for identifying compounds that modulate Cohesin-Mediator function. In some aspects, the invention provides compositions and methods useful for treating a disorder involving altered Cohesin-Mediator function.

Abstract: Provided are methods and compositions for detecting a compound that activates a sirtuin deacetylase activity on a fluorescent-free activation substrate in vitro. Further provided are sirtuin modulating compounds of the formulas (I)-(XXI), and related compounds (XXXI), (XXXII), (XXXIII), and (XXXIV), including the fluorescent free-substrate SIRT1 activator compounds of formulas (XL), (XI), (XII), and (XIII).

Abstract: The present invention provides methods of detecting activating mutations in exon 4 of a GNAQ or a GNA11 gene in a melanocytic neoplasm for diagnostic and prognostic purposes. The invention further provides methods of treating such melanocytic neoplasm by modulating the activity of the mutated GNAQ or GNA11.

Abstract: The present invention provides a method of detecting changes in the refractive index at the surface of a localized surface plasmon resonance (LSPR) detection system. The method includes generating an insoluble product from an enzymatic substrate using an immobilized enzyme, wherein the insoluble product accumulates at a LSPR supporting surface. The method also includes detecting changes in the reflected or transmitted light of the surface arising from the presence of the insoluble product using LSPR.

Abstract: Biosensors, compositions comprising biosensors, methods of producing biosensors, and methods of using biosensors are disclosed. The biosensors comprise a fluorogen-activating peptide and a blocking peptide. The fluorogen-activating peptide and blocking peptide are covalently linked through a peptide linker. The blocking peptide associates with the fluorogen-activating peptide thereby blocking an active domain of the fluorogen-activating peptide when the linker is in an unmodified state. The peptide linker may contain an amino acid sequence that is specifically recognized as a modification substrate by a cognate enzyme. The fluorogen-activating peptide and the blocking peptide at least partially disassociate when the linker is modified by an enzyme, thereby allowing the fluorogen-activating peptide to bind a cognate fluorogen and modulate a fluorescence signal.

Abstract: This invention relates to the finding that lipid oxidising abzymes damage Chlamydia antigens in a sample and the extent of damage provides a measure of the level or activity of the abzymes in the sample. Lipid oxidising abzymes may be measured or detected, for example, by abrogating or abolishing abzyme mediated lipid oxidation activity in a sample, and determining the binding of antibodies in the sample to a Chlamydia antigen relative to controls. Such methods may be useful in the assessment of cardiovascular conditions.

Abstract: Disclosed is as a biomarker useful in early diagnosis of lung cancer, at least one protein selected from the group including Quescin-sulfhydryl oxidase 1, Fibrillin-1, Isoform A of Lamin-A/C, Latent-transforming growth factor beta-binding protein 2, Galectin-1, highly similar to Dickkopf-related protein 3, Isoform Al—B of Heterogeneous nuclear ribonucleoprotein Al, 14-3-3 protein epsilon, Stanniocalcin-2, Cystatin-C, Isoform 1 of Connective tissue growth factor, Profilin-1, Isoform 1 of Extracellular matrix protein 1, Histone H2B type 2-E, Kinesin-like protein KIF26A, Zinc finger protein 516, and Isoform 1 of A-kinase anchor protein 9.

Abstract: The invention relates to compositions and methods for detecting, screening, diagnosing or determining the progression of, regression of and/or survival from a proliferative disease or condition, specifically breast cancer. The invention also provides new assays and kits for the staging or stratifying breast cancer patients or patients suspected of having breast cancer.

Abstract: Provided is a detection kit, which a disease detection kit used together with a secondary ion mass spectrometer in order to detect a disease marker contained in a biological sample, the detection kit including: a base including a noble metal thin film formed thereon; a reactant containing peptide specifically reacting with the disease marker; a first storage unit filled with the reactant; a test substance containing a biological sample of a possible disease carrier; a second storage unit filled with the test substance; a mixing unit mixing the reactant and the test substance with each other to prepare a detection substance containing the specific reactant, which is the peptide specifically reacted with the disease marker contained in the biological sample; and a contact unit contacting the detection substance prepared by the mixing unit with the base to bond the specific reactant to the noble metal film of the base.

Abstract: Kits for assessing lung cancer in patients with solitary pulmonary nodules and methods for assessing lung cancer. The kit includes reagents for detection and/or quantification of serum secretory phospholipase A2-IIA in plasma, reagents for detection and/or quantification of carcinoembryonic antigen in plasma, and reagents for detection and/or quantification of cytokeratin-19 fragment in plasma. The method includes contacting a sample with a specific binding agent for serum secretory phospholipase A2-IIA, a specific binding agent for carcinoembryonic antigen, and a specific binding agent for cytokeratin-19 fragment, calculating levels of serum secretory phospholipase A2-IIA, carcinoembryonic antigen, and cytokeratin-19 fragment, and assessing as indicating lung cancer in the patient if the calculated levels are elevated.

Abstract: Disclosed herein are reagents that include a moiety that includes a metal such as titanium and that readily binds to phosphorylated molecules the reagents also include at least one moiety that produces a signal or that binds to a molecule that produces a signal. The reagent may also include a moiety that binds to a larger molecule or to a surface. Some forms of the reagent include a dendrimer that can simultaneously bind to multiple metal moieties that include a metal such as titanium and multiple moieties that can be used to detected bound molecules. These reagents can be used in detection and/or measurement and/or at least partial purification of phosphorylated molecules. These reagents and methods using them are used to analyze proteins, polypeptides, nucleic acids, phospholipids and the like. They are readily adapted for use in gels, blots, plate based high through put assays and for mass spectrometry.

Abstract: The present invention provides pregnancy associated plasma protein A2 (PAPP-A2), its nucleotide and amino acid sequences, antisense molecules to the nucleotide sequences which encode PAPP-A2, expression vectors for the production of purified PAPP-A2, antibodies capable of binding specifically to PAPP-A2, hybridization probes or oligonucleotides for the detection of PAPP-A2-encoding nucleotide sequences, genetically engineered host cells for the expression of PAPP-A2, and methods for screening for pathologies in pregnant and non-pregnant patients. Methods for screening for altered focal proliferation states in pregnant and/or non-pregnant patients, which include detecting levels of PAPP-A2, are also described.

Abstract: The present invention relates to a GCP II (glutamate carboxypeptidase II) mutant (K699S) having the activity of inhibiting glutamate production and the activity of cleavaging ?-amyloid, and to a pharmaceutical composition for the prevention and treatment of a disease selected from the group consisting of amyloidosis, Alzheimer's disease, Down syndrome accompanying Alzheimer's disease, stroke, dementia, Huntington's disease, Pick's disease, and Creutzfeldt-Jakob disease comprising the GCP II mutant (K699S) as an active ingredient. The GCP II (glutamate carboxypeptidase II) mutant (K699S) demonstrates not only excellent A? cleavage activity compared with the wild type GCP II but also excellent activity of inhibiting glutamate production, unlike the wild type GCP II, so that the mutant has been confirmed to have higher effect and stability than the wild type, suggesting that the GCP II mutant can be effectively used for the prevention or treatment of neurodegenerative diseases.

Abstract: A kit for dot immunogold directed filtration assay including a dot immunogold directed filtration card, a detection probe labeled by nano colloidal gold or latex beads, a negative standard, a positive standard, and a cleaning solution.

Abstract: The detection of a non-alcoholic steatohepatitis patient and the accurate discrimination between a normal person and a non-alcoholic steatohepatitis patient can be achieved by measuring alanine-glyoxylate amino transferase in a sample.

Abstract: A procedure for the identification of a functional disorder of the pancreas by the use of parts of all iso-enzymes of the pancreas elastase and of synthetic amino-acid sequences as antigens for obtaining specific antibodies, as well as their use in immuno-chemical test procedures.

Abstract: Embodiments relate to serological markers for detecting the colorectal cancer and applications of the serological markers. A phospholipid scramblase1 (PLSCR1), a stomatin-like protein 2 (STOML2) or a transport protein Sec61? (SEC61?) increases expression in the blood at the earlier stage of the colorectal cancer. Detecting the expression of the PLSCR1, STOML2 or SEC61? protein or an induced autoantibody of each protein in a blood sample is used to diagnose the colorectal cancer. Moreover, the serological marker improves the detection efficiency and the sensitivity in detecting the colorectal cancer and is used to predict the prognosis. The serological markers are applied in preparing a detection device or inhibiting the growth of the colorectal cancer cells.

Abstract: The present invention generally relates to compositions and methods for determining kinase activity. In some cases, the compositions comprise a triazole heterocycle. In some embodiments, the compositions comprise a quinoline moiety. In one aspect, the present invention is directed to compositions that undergo chelation-enhanced fluorescence (CHEF). In some cases, the compositions may have fluorescence emission spectra with peak maxima greater than 490 nm. The compositions of the present invention can be used, in certain embodiments, to detect phosphorylated substrates and biological processes such as phosphorylation events.

Abstract: The present invention relates generally to the fields of molecular biology and growth factor regulation. More specifically, the invention relates to therapies for the treatment of pathological conditions, such as cancer.

Abstract: The invention relates to a method of diagnosing or monitoring schizophrenia or other psychotic disorder. The biomarkers used are selected from cyclophilin A, cytosalic non-specific dipepditase, Caoctosin-like protein, Glucose-6-phosphate isomerase, uncharacterized protein KIAA0423, myosin 14, myosin 15, nicotinamide phosphoribosyltransferase, pyruvate kinase isozyme R/L, phosphoglyterate mutase 4.

Abstract: The present invention relates to a method of modulating a chromatin binding protein or complex which binds to a functional group on an amino acid of a histone. This method involves phosphorylating or dephosphorylating a serine or threonine on the histone proximate to the amino acid under conditions effective to modulate the chromatin binding protein or complex. This method is particularly useful in treating or preventing cancer in a subject. In addition, the histone comprising a serine or threonine proximate to an amino acid capable of binding to a functional group can be used to screen for compounds which prevent or treat cancer. Also disclosed is an antibody or binding portion thereof raised against a binary switch on a histone comprising a phosphorylated serine or threonine proximate to an amino acid bound to a functional group and its use in detecting a condition mediated by that switch.

Abstract: The present invention relates to new therapeutic and diagnostic uses of soluble neuregulin-1 isoforms and polypeptides, particularly neurological disorders.

Abstract: The present invention relates to methods for the identification and characterization (e.g. selectivity profiling) of HDAC interacting compounds using protein preparations derived from cells endogenously expressing HDACs or cell preparations containing said HDACs.

Abstract: In accordance with the invention, a novel gene translocation, (4p15, 6q22), in human non-small cell lung carcinoma (NSCLC) that results in a fusion proteins combining part of Sodium-dependent Phosphate Transporter Isoform NaPi-3b protein (SLC34A2) with Proto-oncogene Tyrosine Protein Kinase ROS Precursor (ROS) kinase has now been identified. The SLC34A2-ROS fusion protein is anticipated to drive the proliferation and survival of a subgroup of NSCLC tumors. The invention therefore provides, in part, isolated polynucleotides and vectors encoding the disclosed mutant ROS kinase polypeptides, probes for detecting it, isolated mutant polypeptides, recombinant polypeptides, and reagents for detecting the fusion and truncated polypeptides.

Abstract: The present invention relates to a qualitative and quantitative analytical method for analyzing the activity type of an enzyme that is activated by proteolysis. The method of the present invention is advantageous in that the activity type of an enzyme present in a specimen is analyzed using an enzyme activity inhibitor and a binder to enable the analysis to be performed in a quicker and more accurate manner as compared to enzyme-activity analysis methods using a simple binder (for example, an antibody). The method of the present invention can enable the analysis of the activity type of an enzyme present in a specimen in a simple manner using less equipment than enzyme-activity analysis methods using a simple binder.

Abstract: The invention provides a method of identifying a subject likely to have liver disease, or for determining the prognosis of a subject previously identified as having a liver disease comprising detecting an amount of free light chains in a sample from the subject, wherein a higher amount of FLC is associated with an increased likelihood of the subject having a liver disease or an increased likelihood of having a poor prognosis of a liver disease. Assay kits for use in such methods are also provided.

Abstract: The present invention includes a method of detecting ultraviolet radiation (UVR)-induced skin damage in a mammal. The present invention also includes a method of identifying a mammal at risk of developing U VR-induced skin damage, photoaging, or photocarcinogenesis. The present invention further includes a method of inhibiting UVR-induced skin damage in a mammal at risk of developing U VR-induced skin damage. The present invention also includes a method of reducing the level of Syk kinase in the skin of a mammal. The present invention further includes methods of treating or diagnosing a disease associated with a change of Syk kinase expression in the skin in a mammal.

Abstract: The invention relates to compositions, kits, and methods for detecting, characterizing, preventing, and treating human cancer. A variety of chromosomal regions (MCRs) and markers corresponding thereto, are provided, wherein alterations in the copy number of one or more of the MCRs and/or alterations in the amount, structure, and/or activity of one or more of the markers is correlated with the presence of cancer.

Abstract: The present invention relates to methods for diagnosing cornification disorders and metabolic diseases. More specifically, the present invention relates to an in vitro method for diagnosing and/or predicting a cornification disorder in a subject, comprising determining the presence or the absence of a genetic variation in the Patatin-like phospholipase domain-containing protein 1 (PNPLA1) gene sequence in a biological sample from said subject, as compared with the PNPLA1 gene sequence of a healthy non-carrier subject, wherein the presence of said genetic variation indicates that said subject suffers from or is at risk of suffering from said cornification disorder. The method according to the invention allows for example diagnosing ichthyosis in dogs of the Golden Retriever breed.

Abstract: Disclosed are procedures and methods for diagnosing latent and active cancers in a subject. The described methods include the use of sandwich ELISA assays containing antibodies specific for certain epitopes on the A-protein. This enables the assay to discriminate between the monomelic and homopolymeric forms of A-protein.

Abstract: The invention provides a method of preparing a sirtuin complex. The invention also provides a method of detecting a sirtuin in a sample comprising use of the aforesaid sirtuin complex.

Abstract: Disclosed is the discovery that the mTORC2 complex plays a role in the regulation of PKN3 phosphorylation at the turn motif threonine; and the use of the phosphorylation status of the turn motif threonine of PKN3 as a biomarker. In some embodiments, the phosphorylation status of the turn motif threonine of PKN3 is determined using an antibody that specifically binds to the turn motif threonine of a PKN3 protein, such as an anti-phosphoT860 antibody. In some embodiments, the invention relates to methods for screening compounds that have cancer therapeutic potential, methods for diagnosing cancer, methods for determining the prognosis of a patient suffering from cancer, methods for stratifying patients in a clinical trial, methods for treating a patient suffering from cancer, and methods for determining the effectiveness of a particular treatment regimen.

Abstract: The present invention relates to labelled silica-based nanoparticles with enhanced properties, to process for preparing them and to uses thereof.

Abstract: A novel marker for diagnosis of liver cancer and use thereof are provided. To be specific, a marker for diagnosis of liver cancer using over-expression of NLK (neuro-like kinase) in liver cancer cell is provided, along with a composition for diagnosis of liver cancer, a kit, a microarray, and a method for diagnosing liver cancer using the marker. Additionally, a method for screening a substance to prevent or treat liver cancer by decreasing expression of the marker gene or protein, and a composition for preventing or treating liver cancer including such substance are provided. Accordingly, the NLK gene can be efficiently used as a target for diagnosis and treatment of liver cancer.

Abstract: The present invention relates to methods and compositions for the modulation of wound healing and/or the production of extracellular membrane components by modulating the activity and/or amount of secreted protein acidic and rich in cysteine (SPARC) protein. The invention further provides methods for identifying compounds useful in the above-mentioned methods and compositions.

Abstract: The invention provides a method for diagnosing a melanocytic proliferation in a subject comprising staining a sample of lesional melanocytes with an antibody against soluble adenylyl cyclase (sAC) and interpreting the sAC staining pattern, which is associated with a diagnosis of a melanocytic proliferation. The sAC staining pattern, which is complex, is discriminatory and distinctive according to the nature of the melanocytic proliferation. The sAC staining pattern comprises one or more of dot-like Golgi staining, broad granular Golgi staining, diffuse cytoplasmic staining, nucleolar staining, incomplete granular nuclear staining, and pan-nuclear staining. The method of the invention is particularly useful in confirming or disaffirming a diagnosis reached through conventional histologic examination of a sample. Additionally, the invention provides a kit for use in interpreting melanocytic proliferations.

Abstract: The present invention relates to hairy cell leukemia biomarkers and methods of utilizing these biomarkers to diagnose and/or treat hairy cell leukemia.

Abstract: Described are methods of treating a cancer comprising administering to a subject in need thereof an effective amount of a dopamine receptor (DR) antagonist. The DR antagonist may be a phenothiazine derivative, such as thioridazine or chlorpromazine. Optionally, the cancer is acute myeloid leukemia. Also described are methods for identifying subjects with cancer, methods for providing a prognosis for a subjects with cancer and methods for identifying subjects likely to be responsive to therapy with DR receptor antagonists. Methods for identifying cancer stem cells and chemotherapeutic compounds that are DR receptor antagonists as also provided. Also described are methods for the identification and validation of agents that target cancer stem cells.

Abstract: The subject disclosure concerns methods for evaluation of renal cell carcinoma (RCC). Such methods include a method of determining of a diagnosis of the individual as having or not having RCC; determination of a prognosis of a future course of RCC; determination of disease burden; or determination of recurrence of RCC in an individual who had been apparently cured of RCC. The methods each involve the detection of the value of at least one biomarker of Table 1. The biomarker value is used, in some of the methods, to determine whether the individual does or does not demonstrate evidence of disease, and in another method, to determine the degree or a score indicative of the individual's extent of disease.

Abstract: Methods are provided for obtaining a high-yielding oil palm plant, comprising determining the level of a protein in mesocarp tissue of a fruit of a parental oil palm plant, determining whether there is a difference between the level of the protein in the mesocarp tissue of the fruit of the parental oil palm plant and the level of the protein in mesocarp tissue of a fruit of a reference oil palm plant, and selecting progeny of the parental oil palm plant based on the difference to obtain the high-yielding oil palm plant. Also provided are methods for predicting oil yield of a test oil palm plant and kits for obtaining a high-yielding oil palm plant.

Abstract: The present invention relates to a method of aiding in the prognosis of a subject with oesophageal and/or gastro-oesophageal junctional (GOJ) adenocarcinoma, the method comprising the steps of: (a) providing a sample from the subject, (b) determining the expression level of biomarkers TRIM44 and SIRT2 in said sample, and either (i) determining the expression level of biomarker PAPPS2 in said sample; or (ii) determining the expression level of biomarkers WT1 and EGFR in said sample; (c) comparing the expression level of each of said biomarkers to a corresponding reference standard, (d) determining the biomarkers of (b) whose expression is dysregulated compared to the reference standard, (e) inferring from the dysregulated biomarkers identified in (d) the prognosis of 5-year survival, wherein the greater the number of said biomarkers which are dysregulated, the greater the reduction in prognosis of 5-year survival. The invention also relates to kits, uses and devices.

Abstract: RA treatment can improve cognition; promote neurogenesis; and regulate alternative splicing of genes, particularly by mediating mechanisms of 5? splice site selection and generation of PKC? alternatively spliced variants. Expression of PKC?VIII is an indicator of the levels of on-going apoptosis in neurons. In the aging brain, switching the isoform expression to PKC?VIII by RA could shield the cells from neuronal death. The inventors discovered that human PKC?VIII expression is increased in neuronal cancer and decreased in Alzheimer's disease. The data shows that PKC?VIII promotes neuronal survival and increases neurogenesis via Bcl2 and Bcl-xL. In addition, the trans-factor SC35 was found to be crucial in mediating the effects of RA on alternative splicing of PKC?VIII mRNA in neurons. The data described herein indicate that PKC?VIII can be used as a biomarker for neurological diseases such as cancers and Alzheimer's disease and as a tool for monitoring and evaluating treatment.

Abstract: This disclosure relates to methods of determining activities of protein phosphatases and kinases. The disclosure further relates to methods of clinical monitoring of calcineurin activity and immunosuppression in patients and which may be used to predict transplant acceptance in patients.

Abstract: The present invention relates to a method of constructing a variant of a parent Termamyl-like alpha-amylase, which variant has alpha-amylase activity and at least one altered property as compared to the parent alpha-amylase, comprises i) analyzing the structure of the parent Termamyl-like alpha-amylase to identify at least one amino acid residue or at least one structural part of the Termamyl-like alpha-amylase structure, which amino acid residue or structural part is believed to be of relevance for altering the property of the parent Termamyl-like alpha-amylase (as evaluated on the basis of structural or functional considerations), ii) constructing a Termamyl-like alpha-amylase variant, which as compared to the parent Termamyl-like alpha-amylase, has been modified in the amino acid residue or structural part identified in i) so as to alter the property, and, optionally, iii) testing the resulting Termamyl-like alpha-amylase variant with respect to the property in question.

Abstract: A method of predicting the sensitivity of tumor cell growth to inhibition by a PI3K/AKT kinase pathway inhibitor, comprising: determining the localization profile of FOXO3a in a tumor cell, wherein a cytoplasmic localization profile of FOXO3a correlates with sensitivity to inhibition by a PI3K/AKT kinase inhibitor and a nuclear localization profile of FOXO3a correlates with resistance to inhibition by a PI3K/AKT kinase inhibitor.

Abstract: The present invention provides methods of detecting mutations in a GNA11 gene in a melanocytic neoplasm for diagnostic and prognostic purposes. The invention further provides methods of treating such melanocytic neoplasm by modulating the activity of the mutated GNA11 gene.