Abstract: Disclosed herein are novel methods, assays and systems for determining a given state of a cell or a tissue by detecting the presence or absence of a short RNA molecule originating from (a) at least one or more exons of at least one or more protein-coding genes, or from (b) at least one or more segments of at least one or more non-coding transcripts, or from (c) both (a) and (b), in a biological sample from a subject. In some embodiments, the methods, assays and systems described herein can be used to identify an origin and/or a type of a cell or tissue, and/or distinguish a cell or tissue from another cell or tissue. In some embodiments, the methods, assays and systems described herein can also be used to diagnose a disease or disorder, or prognose a given stage and/or progression of the disease or disorder in a subject.

Abstract: The present invention concerns compositions and methods of extracting infectious pathogens from a volume of blood. In one embodiment, the method includes the steps of creating a fibrin aggregate confining the pathogens and introducing a fibrin lysis reagent to expose the pathogens for analysis. The present invention also concerns materials and methods for removing aurintricarboxylic acid (ATA) from a sample.

Abstract: The present invention provides nucleic acid sequences that are used for identification, classification and diagnosis of specific types of nonsmall-cell lung cancers (NSCLC). The nucleic acid sequences can also be used for prognosis evaluation of a subject based on the expression pattern of a biological sample.

Abstract: Methods of managing results of a real-time polymerase chain reaction (PCR) instrument and software associated with such methods are described herein. One disclosed method, among others, comprises calculating, from results of the real-time PCR instrument, a fluorescence signal of a sample during a cycle of a baseline period of the real-time PCR instrument. The method further comprises determining whether or not the fluorescence signal during the baseline period increases by at least a certain percentage compared to cycles outside the baseline period. The sample is flagged as a potentially high-titer sample when the fluorescence signal increases by at least the certain percentage.

Abstract: According to one embodiment, there is provided a reporter gene construct. The reporter gene construct comprises a transcriptional regulatory sequence and a reporter gene that is functionally bound to downstream of the transcriptional regulatory sequence. The reporter gene construct is activated dependently of environment and the reporter gene codes for a protein producible of producing a free radical by the activation of the transcriptional regulatory sequence.

Abstract: The present invention provides isolated cells comprising a nucleic acid encoding a toxic form of apoE. The present invention further provides screening methods for identifying compounds that reduce apoE-induced impairment of mitochondrial integrity and/or function. The present invention further provides kits for use in carrying out a subject screening method. The present invention provides agents that reduce apoE-induced impairment of mitochondrial integrity and/or function; and use of such agents in the treatment of apoE-related disorders.

Abstract: A method for the in vitro diagnosis of bronchopulmonary carcinoma, in particular of non-small cell bronchial carcinoma, that includes a stage of detecting, in a biological sample derived from a patient suspected to be suffering from bronchopulmonary carcinoma, at least one of the major alternative transcripts of the KLK8 gene encoding kallikrein 8. This method is particularly useful for the survival prognostication of patients suffering from bronchopulmonary carcinoma.

Abstract: Described are assay methods, modules and kits useful in the detection, treatment and/or prevention of dementia and related conditions, including but not limited to Alzheimer's disease and mild cognitive disorders.

Abstract: The present invention concerns compositions and methods of extracting infectious pathogens from a volume of blood. In one embodiment, the method includes the steps of creating a fibrin aggregate confining the pathogens and introducing a fibrin lysis reagent to expose the pathogens for analysis. The present invention also concerns materials and methods for removing aurintricarboxylic acid (ATA) from a sample.

Abstract: Disclosed is a method that includes: (i) providing a plurality of initial nucleic acid cassettes that include: a) a first coding region encoding a first immunoglobulin variable domain, b) a second coding region encoding a second immunoglobulin variable domain, and c) a ribosomal binding site disposed between the first and second coding regions for translation of the second polypeptide in a first expression system, wherein the first and second coding regions are in the same translational orientation; (ii) modifying each nucleic acid cassette of the plurality in a single reaction mixture so that it is functional in a second expression system, wherein the first and second region remain physically attached during the modifying; (iii) introducing each modified nucleic acid cassette into a mammalian cell to produce a mixture of transfected cells; and (iv) expressing each modified nucleic acid cassette in the transfected cells.

Abstract: The present disclosure relates to genetic markers and methods of diagnosing and screening for late-onset Alzheimer's disease (LOAD). As such, the disclosure encompasses a whole-genome association analysis of single nucleotide polymorphisms (SNPs) of which a number are located within the GRB2-associated binding protein 2 (GAB2) gene as well as other markers associated with other genes. The disclosure identifies two novel haplotypes within the GAB2 gene, i.e., a LOAD risk-enhancing and a LOAD risk-decreasing haplotype. These haplotypes modify LOAD risk differentially in combination with APOE alleles. Further encompassed are therapeutic methods and agents of decreasing the deterioration of cells associated with LOAD.

Abstract: Methods and compositions for the screening and isolation of ligand-binding polypeptides, such as antibodies. In some aspects, methods of the invention enable the isolation of intact soluble antibodies comprising a constant domain. Screening methods that employ genetic packages such as bacteria and bacteriophages enable high through-put identification of ligand binding molecules.

Abstract: This invention is in the field of neurology. Specifically, the invention relates to the discovery and characterization of molecular components that play a role in neuronal demyelination or remyelination. In addition, the invention relates to the generation of an animal model that exhibits hypomyelination. The compositions and methods embodied in the present invention are particularly useful for drug screening and/or treatment of demyelination disorders.

Abstract: The present invention refers to a newly discovered gene named KASPP for Kinase Associated with Parkinsonism with Pleiomorphic Pathology or alternatively named LRRK2 for Leucine-Rich Repeat Kinase 2, its production, biochemical characterization and use for the detection and treatment of neurodegenerative disorders, such as Parkinson disease (PD) including, without limitation, sporadic PD, Alzheimer disease (AD), amyotrophic lateral sclerosis (ALS), and other synucleinopathies and/or tauopathy as well as several polymorphisms and mutations in the KASPP/LRRK2 gene segregated with PD.

Abstract: The present invention provides methods, kits, and compositions for detecting mutations in transient receptor potential cation channel, subfamily V, member 4 (TRPV4). In particular, mutations are detected in TRPV4 to detect diseases such as scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC) or Charcot-Marie-Tooth disease type 2C (CMT2C).

Abstract: Polypeptides which are related to the neprilysin enzyme family and have zinc metalloprotease activities and are referred to as IGS5, polynucleotides encoding such polypeptides, vectors containing such polynucleotides, host cells containing such vectors, processes for producing such polypeptides and/or polynucleotides, screening methods for identifying compounds which stimulate or inhibit IGS5 polypeptides and/or polynucleotides, and the use of such polypeptides and/or polynucleotides in therapy of various dysfunctions, disorders or diseases, particularly cardiovascular diseases, metabolic diseases such as diabetes mellitus type II, and neurodegenerative disorders, such as Parkinson's Disease.

Abstract: Methods and compositions for diagnosis and treatment of neurodegenerative disorders are disclosed. The methods and compositions apply the discovery of the correlation between an hGDH2 gene polymorphism and the occurrence of atypical Parkinson's Disease.

Abstract: Disclosed are yeast cells expressing a polypeptide comprising a signal sequence and a human amyloid beta protein. Also disclosed are methods of screening yeast cells to identify compounds that prevent or suppress amyloid beta-induced toxicity and genetic suppressors or enhancers of amyloid beta-induced toxicity. Compounds identified by such screens can be used to treat or prevent neurodegenerative disorders such as Alzheimer's disease.

Abstract: A novel pharmaceutical application of an extract from a vaccine virus-inoculated and inflamed tissue and relates to a thioredoxin production promoting agent containing the extract as an active ingredient. The extract has an excellent thioredoxin production promoting action against an oxidative stress caused by a stimulus by such as a tobacco smoke extract or hydrogen peroxide and showed a significant lung cell protective effect. Therefore, the pharmaceutical of the invention containing the extract as an active ingredient is highly useful as a preventive or therapeutic agent for a chronic obstructive lung disease considered to be mainly caused by a continuous oxidative stress such as chronic smoking and the pharmaceutical with less side effects and high safety.

Abstract: In this application is described the characterization Borrelia burgdorferi lipoprotein BBK07, an in vivo expressed and surface-exposed immunogen. BBK07 expression in the infected hose can be detected at the RNA and protein level as early as the first week of infection. Therefore, described is the use of BBK07 antigen and immunogenic epitopes as well as bbk07 nucleotides in methods and kits for the diagnosis of Lyme disease.

Abstract: Encephalotoxin produced by activated mononuclear phagocytes is present in individuals having neurological disease including neurodegenerative and neuro-inflammatory diseases, such as Alzheimer's disease (AD), HIV-1-associated dementia (HAD), Creutzfeldt-Jakob disease, Mild Cognitive Impairment, prion disease, minor cognitive/motor dysfunction, acute stroke, acute trauma, or neuro-AIDS. Biochemical detection of encephalotoxin according to the methods of the invention will allow diagnosis of neurological disease in early, presymptomatic stages, thereby allowing early intervention in disease progression as well as identification of subjects or populations at risk for developing neurodegenerative disease. The methods of the invention also provide a mechanism for monitoring progression and treatment of neurological disease.

Abstract: Systems and methods for the detection of biomarkers. In at least one embodiment of a microarray system of the present disclosure, the microarray system comprises a microarray product comprising at least 100 diagnostic markers/cm2, a microarray identifier, and a stabilizing agent, a control microarray product comprising a first specific binding pair member that binds to a first detectable label, and a processor for providing information regarding the identification and concentration of markers on the microarray based on the identity of the array provided by the microarray identifier.

Abstract: Systems and methods of biomarker analysis. In at least one embodiment of a system for determining the therapeutic potential of a therapeutic compound the present disclosure, the system comprises a detection platform, a computer database capable of receiving a plurality of binding characteristics, a processor operably coupled to the computer database and the detection platform. In at least one embodiment, the processor has and executes a software program operational to determine a binding characteristic of the detection agent and a stabilized diagnostic agent in each of the plurality of detection sites, compare the binding characteristic among each of the plurality of detection sites, wherein the comparison of binding characteristics is capable of determining the stabilizing agent with the greatest effect on the binding characteristic between the detection agent and the diagnostic agent, generate a binding record using the compared binding characteristics, and deliver the binding record to a recipient.

Abstract: Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.

Abstract: Methods are provided for identifying candidate agents for use in inhibiting expression of certain receptors and ion channels in nociceptors. Also provided are methods for identifying candidates agents for use in inhibiting neurophathic and other types of pain.

Abstract: An immobilization carrier containing an electron acceptor compound is used in addition to glutaraldehyde and poly-L-lysine to immobilize an enzyme and an electron acceptor compound simultaneously to an electrode. For example, here are used diaphorase as the enzyme and 2-amino-3-carboxy-1, 4-naphthoquinone (ACNQ) as the electron acceptor compound.

Abstract: Positive controls for experimentation related to membrane-bound glucose transporter proteins and methods for preparing such positive controls, such proteins including GLUT1, GLUT4, GLUT5, and GLUT12.

Abstract: The invention is to provide an isolated transgenic mammalian neural cell, which comprises at least one heterologous vector expressing AhR/ARNT. Also provided is methods the detection of a sample containing a chemical substance damage to the nervous system and the selection of drugs for treating neurodegenerative disorders.

Abstract: The present invention relates to methods of using GPR101 G protein-coupled receptor (GPCR) to screen candidate compounds as modulators of hypothalamic proopiomelanocortin (POMC)-derived biologically active peptide secretion. Modulators of GPR101 receptor modulate hypothalamic POMC-derived biologically active peptide secretion and are useful in the treatment of POMC-derived biologically active peptide-related disorders. POMC-derived biologically active peptides include, but are not limited to, ?-melanocyte stimulating hormone (?-MSH), ?-melanocyte stimulating hormone (?-MSH) and ?-melanocyte stimulating hormone (?-MSH). Agonists and partial agonists of GPR101 receptor stimulate hypothalamic ?-MSH, ?-MSH and ?-MSH secretion and are useful, for example, in the treatment and prevention of obesity and conditions related thereto (including but not limited to Type 2 diabetes, insulin resistance, and metabolic syndrome), inflammation-associated disorders, and pyrexia.

Abstract: The present invention relates to epilepsy. More particularly, the present invention relates to idiopathic generalized epilepsy (IGE) and to the identification of three genes mapping to chromosome 2, which show mutations in patients with epilepsy. The invention further relates to nucleic acid sequences, and protein sequences of these loci (SCNA) and to the use thereof to assess, diagnose, prognose or treat epilepsy, to predict an epileptic individual's response to medication and to identify agents which modulate the function of the SCNA. The invention also provides screening assays using SCN1A, SCN2A and/or SCN3A which can identify compounds which have therapeutic benefit for epilepsy and related neurological disorders.

Abstract: This invention relates to the identification and characterization of racemases and definition of protein signatures of these racemases. More particularly, this invention relates to the identification of nucleic acid molecules encoding a peptide consisting of a motif characteristic of the protein signatures, and to the peptides consisting of these motifs and more specifically SEQ ID NOS: 1-4. This invention also relates to antibodies specific for the peptides and to immune complexes of these antibodies with the peptides. Further, the invention relates to methods and kits for detecting racemases using the nucleic acid molecules of the invention, as well as the peptides consisting of the motifs and antibodies to these peptides.

Abstract: The present invention provides a method of screening a subject for mutations in the CC2D2A gene that are associated with Joubert syndrome, an autosomal recessive form of mental retardation. The present invention also provides proteins that are associated with Joubert syndrome including proteins comprising an amino acid sequence that terminates in DHEGGSGMES (SEQ ID NO: 1). Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with Joubert syndrome.

Abstract: In the absence of substantial sequence overlap between a recombinant adenoviral vector and the genome of a packaging cell, helper-dependent E1-containing particles (HDEP) can be formed at low frequency. Provided are means and methods for reducing or preventing the generation of HDEP. To this purpose, novel packaging cells and methods of making these are provided.

Abstract: This document provides methods and materials related to genetic markers of schizophrenia (SZ), schizotypal personality disorder (SPD), and/or schizoaffective disorder (SD), (collectively referred to herein as “schizophrenia spectrum disorders” or SSDs). For example, methods for using such genetic markers to identify an SSD (e.g., SZ) endophenotype are provided.

Abstract: The invention provides isolated nucleic acid molecules, designated PGC-1? nucleic acid molecules, which encode novel PGC-1 related coactivator molecules. The invention also provides antisense nucleic acid molecules, recombinant expression vectors containing PGC-1? nucleic acid molecules, host cells into which the expression vectors have been introduced, and nonhuman transgenic animals in which a PGC-1? gene has been introduced or disrupted. The invention still further provides isolated PGC-1? proteins, fusion proteins, antigenic peptides and anti-PGC-1? antibodies. Diagnostic and therapeutic methods utilizing compositions of the invention are also provided.

Abstract: The present invention relates to double-stranded oligonucleotides, pharmaceutical compositions thereof, and use of such double-stranded oligonucleotides and pharmaceutical compositions to modulate nociceptive signaling in a cell or prevent and/or treat pain in a patient.

Abstract: In one aspect, the present invention provides methods for amplifying a microRNA molecule to produce DNA molecules. The methods each include the steps of: (a) using primer extension to make a DNA molecule that is complementary to a target microRNA molecule; and (b) using a universal forward primer and a reverse primer to amplify the DNA molecule to produce amplified DNA molecules. In some embodiments of the method, at least one of the forward primer and the reverse primer comprise at least one locked nucleic acid molecule.

Abstract: Methods and compositions for the screening and isolation of ligand-binding polypeptides, such as antibodies. In some aspects, methods of the invention enable the isolation of intact soluble antibodies comprising a constant domain. Screening methods that employ genetic packages such as bacteria and bacteriophages enable high through-put identification of ligand binding molecules.

Abstract: The present invention provides markers that can selectively distinguish pancreatic progenitor cells. The present invention also provides methods for distinguishing pancreatic progenitor cells by using the markers as an indicator, and reagents to be used in the methods. The present inventors successfully identified the surface marker Nephrin-like 3 (Neph3) which is specifically expressed in pancreatic progenitor cells, and isolated pancreatic progenitor cells using the marker as an indicator or such. Viable pancreatic progenitor cells can be selected by using Neph3 as an indicator without using translated products and transcripts of any foreign genes. The marker is useful in preparing and identifying pancreatic progenitor cells which are applied to regenerative medicine or such for treatment of pancreatic diseases.

Abstract: The invention relates generally to treatment of neurological disorders and nervous system injuries. The invention specifically provides methods of using modulators of particular target proteins to modulate degeneration of neurons or portions thereof, such as axons.

Abstract: The current invention relates to new tools and methods enabling neuroblastoma patient stratification into prognostic favorable or unfavorable groups. The invention is based on the re-analysis of published gene expression data-sets studying neuroblastoma tumors generating different prognostic gene lists. The overlapping gene lists were subsequently tested for their prognostic power on both the published tumor samples and on an unseen large set of unpublished samples, greatly increasing the statistical power of prognostic analyses. In addition, expression analysis of miRNAs in neuroblastoma tumors with different prognosis was performed. By doing this, the inventors could establish a neuroblastoma prognostic classifier with highly improved prognostic power, which is independent from the tumor sample set used to establish it. This classifier and its related prognostic tools and methods are thus perfectly suitable for routine clinical assessment of neuroblastoma prognosis.

Abstract: The invention is to provide an isolated transgenic mammalian neural cell, which comprises at least one heterologous vector expressing AhR/ARNT. Also provided is methods the detection of a sample containing a chemical substance damage to the nervous system and the selection of drugs for treating neurodegenerative disorders.

Abstract: The present invention relates to novel markers for diagnosing brain disease caused by brain injury and the use thereof. More particularly, the present invention relates to novel diagnostic markers for brain disease caused by brain injury, which are identified by administering an MDMA drug, a diagnostic composition for brain disease caused by brain injury, a kit, a microarray, and a method for diagnosing brain disease caused by brain injury using the same, and relates to a method for screening a material for preventing or treating brain disease and a composition for preventing or treating brain disease caused by brain injury including the material. It was found that the expression amount of the marker genes of the present invention in tissues or cells of a patient with brain injury was over-expressed or under-expressed compared with that in normal tissues or cells.

Abstract: The present invention relates to the identification of genetic markers patients with leukemia, especially including acute lymphoblastic leukemia (ALL) at high risk for relapse, especially high risk B-precursor acute lymphoblastic leukemia (B-ALL) and associated methods and their relationship to therapeutic outcome. The present invention also relates to diagnostic, prognostic and related methods using these genetic markers, as well as kits which provide microchips and/or immunoreagents for performing analysis on leukemia patients.

Abstract: The present invention relates to antibodies specific for human Beclin-1 protein phosphorylated at position Thr 119 and uses thereof. In particular, these antibodies are useful in diagnosing diseases associated with impaired autophagy including cancer and neurodegenerative diseases. The invention further relates to human Beclin-1 mutated at position 119 with a phospho-mimicking residue and uses thereof for treating cancer and neurodegenerative diseases.

Abstract: Presenilin Associated Membrane Protein (PAMP), and nucleic acids encoding this protein, are provided. PAMP and PAMP nucleic acids provide diagnostic and therapeutic tools for evaluating and treating or preventing neurodegenerative diseases. In a specific embodiment, mutations in PAMP are diagnostic for Alzheimer's Disease or spina bifida. The invention further relates to screening, particularly using high-throughput screens and transgenic animal models, for compounds that modulate the activity of PAMP and presenilins. Such compounds, or gene therapy with PAMP, can be used in treating neurodegenerative diseases, particularly Alzheimer's Disease. In addition, the invention provides PAMP mutants, nucleic acids encoding for PAMP mutants, and transgenic animals expressing PAMP mutants, which in a preferred aspect result in biochemical changes similar to those induced by mutations in KNAPP, PS1, or PS2, associated with familial Alzheimer's disease.

Abstract: Disclosed herein are novel methods, assays and systems for detecting an increased risk for Alzheimer's disease (AD) in a subject by identifying at least one nuclei acid polymorphism described herein in a biological sample from the subject. Levels of the genes associated with the nucleic acid polymorphism described herein are also determined for detection of higher risk for AD. Disclosed herein further provides methods for treating AD by administering to a subject in need thereof with ATXN1.

Abstract: Methods are provided for determining whether a subject has a graft tolerant phenotype. In practicing the subject methods, the expression of at least 5 genes in a sample from the subject, e.g., a blood sample, is assayed to obtain a gene expression result for the at least 5 genes. The obtained gene expression result for the at least 5 genes is then employed to determine whether the subject has a graft tolerant phenotype. Also provided are compositions, systems and kits that find use in practicing the subject methods. The methods and compositions find use in a variety of applications, including the determination of an immunosuppressive therapy regimen.

Abstract: Applications of a new class of enzymes, sulfiredoxines (Srx), catalyzing the reduction of Cys-SO2#191H (sulfinic cystein acid) and the reduction of peroxyredoxine (Prx) in the Cys-SO2#191H form thereof into a thiol derivative.

Abstract: The present invention features methods for classifying, determining severity, and predicting clinical endpoints of scleroderma based upon the expression of selected biomarker genes.