Abstract: Methods and compositions relating to diagnosing and treating a VMAT-2 deficiency disease are described. Provided are methods for screening for, diagnosing or detecting a risk of developing a VMAT-2 deficiency disease comprising detecting the presence of a VMAT-2 variant in a sample of a subject, wherein the presence of the VMAT-2 variant is indicative that the subject has a VMAT-2 deficiency disease or an increased risk of developing a VMAT-2 deficiency disease compared to an individual having wild type VMAT-2. Also provided are methods of treating a VMAT-2 deficiency disease with a dopamine agonist.

Abstract: Provided is a cancer evaluation method using a novel cancer marker for evaluating the onset, the preclinical stage, the clinical stage, or the prognosis of a cancer in a subject. At least one miRNA selected from hsa-miR-92 and hsa-miR-494 is used as the novel cancer marker in cancer evaluation. The cancer marker in a sample of a cell or a tissue is detected, and the possibility of a cancer in the sample is evaluated based on the expression level of the cancer marker. According to this evaluation method, by detecting the miRNA as the cancer marker, it becomes possible to evaluate the possibility of a cancer in the sample with excellent reliability. As a method for detecting the cancer marker, it is preferable to perform an in situ hybridization method using a labeled probe with respect to the sample that has been immobilized, for example.

Abstract: This invention relates to a method for detecting pancreatic cancer using novel tumor markers. Specifically, the invention provides a method for detecting pancreatic cancer comprising measuring the presence or an amount of a polypeptide having an reactivity of binding via an antigen-antibody reaction to an antibody against CAPRIN-1 protein in a sample separated from a subject, and to a reagent or kit for detecting pancreatic cancer comprising a CAPRIN-1 protein or a fragment thereof, an antibody against the same, or a polynucleotide encoding the same.

Abstract: The invention provides a method of diagnosing a disease or a predisposition to contract a disease by assaying for mutations of uromodulin (UMOD) within a test subject or patient. The presence of a mutation in the UMOD supports a diagnosis of a disease or a predisposition to contract a disease within the patient.

Abstract: The invention provides a method for generating an oligonucleotide with which an exon may be skipped in a pre-mRNA and thus excluded from a produced mRNA thereof. Further provided are methods for altering the secondary structure of an mRNA to interfere with splicing processes and uses of the oligonucleotides and methods in the treatment of disease. Further provided are pharmaceutical compositions and methods and means for inducing skipping of several exons in a pre-mRNA.

Abstract: The present invention provides a novel cancer marker for evaluating the onset, the preclinical stage, the clinical stage, or the prognosis of a cancer in a subject, and an evaluation method using the same. A cancer marker containing at least one miRNA selected from hsa-miR-92 and hsa-miR-494 is used as a marker for cancers excluding breast cancer. A method for evaluating the possibility of cancers excluding breast cancer includes the step of detecting the expression level of a cancer marker in a biological sample collected from a subject. In this method, the cancer marker contains at least one miRNA selected from hsa-miR-92 and hsa-miR-494.

Abstract: The invention relates to a new identified mutation in the epidermal growth factor receptor gene, leading to an amino acidic change which highly correlates with the resistance to a therapy regimen comprising cetuximab and the sensitivity to a therapy regimen comprising panitumumab. The invention includes peptide sequences, primers and probes to detect such a mutation, as well as kits for predicting the response of a subject to a therapy regime comprising cetuximab and/or panitumumab. In particular, the invention is useful in the therapy regimen applicable to metastasic colorectal cancer and to head and neck cancer.

Abstract: A polymorphism-detecting probe, an amplification primer and the use thereof are provided to enable simple and highly reliable determination of different polymorphisms in an EGFR gene.

Abstract: The present invention is based in part on the discovery of a panel of miRs whose levels are increased or decreased in the circulation of chronic systolic HF patients. Accordingly, an extensive panel of miRs was screened in the sera of stable chronic systolic HF patients and the results were compared to an age, gender and ethnically matched control group.

Abstract: Purified genes encoding a cytokine or composite cytokine from a mammal, reagents related thereto including purified proteins, specific antibodies, and nucleic acids encoding these molecules are provided. Methods of using said reagents and diagnostic kits are also provided.

Abstract: Methods comprising chemical ligation of oligonucleotides are provided. In some embodiments, methods of detecting a polymorphisms in nucleic acids are provided. In some embodiments, methods of detecting at least one analyte are provided. In some embodiments, methods of labeling solid support particles are provided. Kits comprising oligonucleotides with chemically ligatable moieties are also provided.

Abstract: The invention relates to isolated DNA or RNA molecules comprising at least ten contiguous bases having a sequence in a microRNA shown in SEQ ID NOs: 1-94; 281-374; 467-481; 497-522; or 549, except that up to thirty percent of the bases may be wobble bases, and up to 10% of the contiguous bases may be non-complementary. The invention further relates to modified single stranded microRNA molecules, isolated single stranded anti-microRNA molecules and isolated microRNP molecules. In another embodiment, the invention relates to a method for inhibiting microRNP activity in a cell.

Abstract: Methods, pharmaceutical compositions, and kits are provided which includes accurately sampling a RNA from a tissue of an animal and analyzing RNA in the tissue of the animal as an indicator of physiological state, infectious disease, neoplastic disease, autoimmune disease, inflammatory disease, cardiovascular disease, atherosclerotic disease, or neurological disease in the animal. A method is provided which includes administering at least one compound to an animal wherein the at least one compound is configured to prevent the cleavage of at least one tissue RNA by a ribonuclease. The method further includes collecting a sample of at least a portion of tissue from the animal.

Abstract: The invention features compositions and methods that are useful for genotyping CES1 isoforms (CES1A1, CES1A2, CES1A3). The ability to specifically genotype one or more CES1 isoforms (e.g. CES1A1) is useful for assessing drug metabolism in a subject and guiding treatment selection.

Abstract: The present disclosure provides a marker for predicting prognosis of liver cancer, a composition or kit for predicting prognosis of liver cancer, preferably, a composition or kit for predicting prognosis of liver cancer for predicting the prognosis according to the stage of liver cancer. The marker, composition or kit, and method of the present disclosure make it possible to effectively predict prognosis of liver cancer, preferably, prognosis of liver cancer according to stage.

Abstract: This document provides methods and materials related to genetic variations of neurological disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Parkinson's disease.

Abstract: This document provides methods and materials related to genetic variations of developmental disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.

Abstract: This document provides methods and materials related to genetic variations of neurological disorders. For example, this document provides methods for using such genetic variations to assess susceptibility of developing Parkinson's disease.

Abstract: A single nucleotide polymorphic site at position 10793 of the bovine POU1F1 gene is associated with improved longevity and milk product traits. Disclosed are nucleic acid molecules, kits, methods of genotyping and marker assisted bovine breeding methods.

Abstract: A method for characterizing a gastro-intestinal disease in a subject involves comparing ratios of expression levels of genes in a biological sample from a subject to references, wherein the gastro-intestinal disease is characterized based on a difference in the ratios of the expression values of genes in the biological sample from the subject as compared to the references.

Abstract: The present invention is based on BCR-ABL1 splice variants which result from insertion and/or truncation of the bcr-abl1 transcript and the finding that these variants provide resistance to kinase domain inhibitors such as imatinib, nilotinib and dasatinib.

Abstract: DNA clones encoding a receptor in the Ig superfamily and a related soluble variant have been isolated from a human monocyte library. The invention provides receptor polypeptides, nucleic acids encoding them, expression vectors, and transformed cells for recombinant production of the polypeptides.

Abstract: A method for diagnosing arrhythmia such as atrial fibrillation is provided. A single nucleotide polymorphism present in the region 24 of the long arm of the chromosome 1, NEURL gene, or CUX2 gene is analyzed, and the risk of developing arrhythmia and/or the presence or absence of the onset of arrhythmia is diagnosed on the basis of the analysis result.

Abstract: DNA clones encoding a receptor in the Ig superfamily and a related soluble variant have been isolated from a human monocyte library. The invention provides receptor polypeptides, nucleic acids encoding them, expression vectors, and transformed cells for recombinant production of the polypeptides.

Abstract: The invention is a method of determining HLA genotype for HLA-A, HLA-B, HLA-C, DQB1, DRB1, DRB3, DRB4, DRB5, DPA1 and DPB1. Reagents and kits are also disclosed.

Abstract: The present invention relates, in general, to perioperative bleeding and, in particular, to methods of identifying individuals at risk of perioperative bleeding. The present invention relates, in general, to perioperative renal dysfunction and, in particular, to methods of identifying individuals at risk of perioperative renal dysfunction. The present invention relates, in general, to perioperative stroke and, in particular, to methods of identifying individuals at risk of perioperative stroke.

Abstract: Methods are provided for treating fibrosis of a tissue, including fibrosis of the liver, using combinations of antagomirs and/or locked nucleic acids. Compositions therefor are also provided.

Abstract: The present invention relates to the identification of miRNAs that are involved in the process of neuromuscular synaptic maintenance and regeneration following injury or disease. Modulation of these miRNAs is proposed as treatment for spinal cord injury and neurodegenerative disease.

Abstract: The invention provides short interfering nucleic acids, either single-stranded or double-stranded, that cause RNAi-induced degradation of mRNA from the Nav1.8 sodium channel gene; to pharmaceutical compositions comprising such short interfering nucleic acids; recombinant vectors comprising such short interfering nucleic acids; a method for inhibiting translation of an mRNA; a method for inhibiting expression of a polypeptide; a method for blocking the membrane potential in a cell; a method for blocking the sodium current in a cell; and a method for inhibiting chronic pain.

Abstract: Provided herein are methods to discover and use single nucleotide polymorphisms (SNP) for identifying breed, or line and breed, or line composition of a bovine subject. The present invention further provides specific nucleic acid sequences, SNPs, and SNP patterns that can be used for identifying breed or breed combinations for Angus, Holstein, Limousin, Brahman, Hereford, Simmental, Gelbvieh, Charolais and Beefmaster breeds. These patterns can be utilized to manage animals in a feedlot to obtain optimum performance based on known characteristics of specific breeds and identify animals for breeding in selection programs. In another aspect, these patterns can be used to ensure labeling on breed specific branded products.

Abstract: The present invention provides a portable system for real-time population-scale HLA genotyping and/or allelotyping in a field environment and methods of such population-scale HLA genotyping. The individual components of the system are portable to and operable within a field environment thereby providing high throughput with real-time geno- or allelotyping. Also provided are HLA gene-specific primers and HLA allele-specific or single nucleotide polymorphism-specific hybridization probes. In addition the present invention provides a microarray comprising the hybridization probes. Further provided is a kit comprising the HLA gene-specific primers and the microarray.

Abstract: Compounds, compositions and methods are provided for modulating the expression of STAT5. The compositions comprise oligonucleotides, targeted to nucleic acid encoding STAT5. Methods of using these compounds for modulation of STAT5 expression and for diagnosis and treatment of diseases and conditions associated with expression of STAT5 are provided.

Abstract: The present invention concerns methods and compositions related to type 3 phosphodiesterases (PDE3). Certain embodiments concern isolated peptides corresponding to various PDE3A isoforms and/or site-specific mutants of PDE3A isoforms, along with expression vectors encoding such isoforms or mutants. In specific embodiments, methods for identifying isoform-selective inhibitors or activators of PDE3 are provided, along with methods of use of such inhibitors or activators in the treatment of dilated cardiomyopathy, pulmonary hypertension and/or other medical conditions related to PDE3 effects on cAMP levels in different intracellular compartments.

Abstract: The present invention provides compositions and methods based on genetic polymorphisms that are associated with response to statin treatment (particularly for reducing the risk of venous thrombosis). For example, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by these nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and variant proteins, and methods of using the nucleic acid molecules and proteins as well as methods of using reagents for their detection.

Abstract: The present invention provides compositions comprising therapeutic nucleic acids (e.g., interfering RNA such as siRNA) that target Ebola virus (EBOV) gene expression and methods of using such compositions to silence EBOV gene expression. More particularly, the invention provides unmodified and chemically modified interfering RNA which silence EBOV gene expression and methods of use thereof, e.g., for preventing or treating EBOV infections caused by one or more EBOV species such as Zaire EBOV. The invention also provides serum-stable nucleic acid-lipid particles comprising one or more interfering RNA molecules, a cationic lipid, and a non-cationic lipid, which can further comprise a conjugated lipid that inhibits aggregation of particles. Methods of silencing EBOV gene expression by administering one or more interfering RNA molecules to a mammalian subject are also provided.

Abstract: Newly discovered alternative transcripts of the KLK8 gene encoding kallikrein 8, NT5 and NT6. The sequence of NT5 is set forth in SEQ ID NO:7, and the sequence of NT6 is set forth in SEQ ID NO:8.

Abstract: The present teachings provide methods, compositions, and kits for synthesizing and sequencing nucleic acids. In some embodiments, reversible di-nucleotide compounds are employed along with cleaving reactions that remove a label and a blocking moiety. Improved sequencing efficiency is achieved by the rapid polymerase-mediated incorporation of reversible di-nucleotide compounds. In some embodiments, the di-nucleotides do not contain conventional nucleotide triphosphates, but rather employ amino acid phosphoramidate nucleotides (AAPNs).

Abstract: Provided herein are compositions, methods and kits for modulating expression of target genes, particularly heat shock protein 47 (hsp47). The compositions, methods and kits may include nucleic acid molecules (for example, short interfering nucleic acid (siNA), short interfering RNA (siRNA), double-stranded RNA (dsRNA), micro-RNA (miRNA) or short hairpin RNA (shRNA)) that modulate a gene encoding hsp47, for example, the gene encoding human hsp47. The composition and methods disclosed herein may also be used in treating conditions and disorders associated with hsp47 such as liver fibrosis, pulmonary fibrosis, peritoneal fibrosis and kidney fibrosis.

Abstract: The present invention provides a composition comprising a fluorescent nucleic acid probe that can be cleaved by enzymatic and non-enzymatic means, and methods of using the same. Advantageously, the nucleic acid probe may be used to detect and quantify nucleic acid cleavage in vitro, in situ, ex vivo, and in vivo.

Abstract: MicroRNAs (miR-NAs) are a class of small noncoding RNAs that have important regulatory roles in multicellular organisms. The public miRNA database contains 321 human miRNA sequences, 234 of which have been experimentally verified. To explore the possibility that additional miRNAs are present in the human genome, we have developed an experimental approach called miRNA serial analysis of gene expression (miRAGE) and used it to perform the largest experimental analysis of human miRNAs to date. Sequence analysis of 273,966 small RNA tags from human colorectal cells allowed us to identify 200 known mature miRNAs, 133 novel miRNA candidates, and 112 previously uncharacterized miRNA* forms. To aid in the evaluation of candidate miRNAs, we disrupted the Dicer locus in three human colorectal cancer cell lines and examined known and novel miRNAs in these cells. The miRNAs are useful to diagnose and treat cancers.

Abstract: A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild form encodes a polypeptide implicated in hereditary sensory defect, wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.

Abstract: The present invention describes a method for identifying one or more of a plurality of sequences differing by one or more single base changes, insertions, deletions, or translocations in a plurality of target nucleotide sequences. The method includes a ligation phase, a capture phase, and a detection phase. The ligation phase utilizes a ligation detection reaction between one oligonucleotide probe, which has a target sequence-specific portion and an addressable array-specific portion, and a second oligonucleotide probe, having a target sequence-specific portion and a detectable label. After the ligation phase, the capture phase is carried out by hybridizing the ligated oligonucleotide probes to a solid support with an array of immobilized capture oligonucleotides at least some of which are complementary to the addressable array-specific portion. Following completion of the capture phase, a detection phase is carried out to detect the labels of ligated oligonucleotide probes hybridized to the solid support.

Abstract: The present invention relates to a method for the diagnosis and prognosis of cancers using an epigenetic marker consisting of a specific single CpG site in TTP (Tristetraprolin) promoter and treatment of cancers by regulating its epigenetic status. Particularly, the present invention relates to a method for the diagnosis and prognosis of liver cancer by measuring specific methylation of C, the 32nd residue of the nucleic acid sequence represented by SEQ. ID. NO. 41, and a method for treatment of cancer by regulating the same. The present invention can be effectively used for the diagnosis and/or treatment of liver cancer characterized by TTP down-regulation and methylation of C, the 32nd residue of the nucleic acid sequence represented by SEQ. ID. NO. 41. The present invention can be further applied for the diagnosis and treatment of other cancers or inflammatory diseases that are characterized by TTP down-regulation and methylation of C, the 32nd residue of the nucleic acid sequence represented by SEQ. ID.

Abstract: The present invention relates to prognostic micro RNA (miRNA) biomarkers based on a specific miRNA expression pattern, which can prove as a valuable prognostic tool to predict the survival of patients being diagnosed with pancreas cancer.

Abstract: Isolated nucleotides encoding polypeptides with mutations leading to amino acid substitutions linked to hereditary kidney disease or malformation of the urinary tract are provided herein. Constructs, cells, probes and inhibitory molecules comprising these mutations are also provided and may be used in screening assays for candidate agents to treat or reverse these diseases or alternatively to provide diagnostic tests. Methods of diagnosing subjects likely to develop these diseases or to be carriers of these diseases are also provided.

Abstract: The present invention relates to antisense antiviral compounds and methods of their use and production in inhibition of growth of viruses of the Orthomyxoviridae family and in the treatment of a viral infection. The compounds are particularly useful in the treatment of influenza virus infection in a mammal.

Abstract: The invention relates to isolated DNA or RNA molecules comprising at least ten contiguous bases having a sequence in a pancreatic islet microRNA. In another embodiment, the invention relates to isolated single stranded pancreatic islet microRNA molecules or anti-pancreatic islet microRNA molecules.

Abstract: A diagnostic reagent or device comprises at least one ligand capable of specifically complexing with, binding to, or quantitatively detecting or identifying the biomarker chloride intracellular channel protein 4 (CLIC4) or an isoform, pro-form, modified molecular form including posttranslational modification, or unique peptide fragment or nucleic acid fragment thereof. An alternative diagnostic reagent or device comprises ligand or ligands capable of specifically complexing with, binding to, or quantitatively detecting or identifying multiple tropomyosin biomarkers. Optionally, such reagent or device includes a signaling molecule and/or a substrate on which the ligand is immobilized. Other reagents and methods of diagnosing ovarian cancer include use of CLIC4 ligands and/or multiple tropomyosin ligands with an additional ovarian cancer biomarker. For example, CLIC4 combined with one or more of CLIC1 and/or one or multiple members of the tropomyosin family, e.g.

Abstract: Provided is a novel nucleic acid molecule that can be produced easily and efficiently and can inhibit the expression of a gene. The nucleic acid molecule is a single-stranded nucleic acid molecule including an expression inhibitory sequence that inhibits expression of a target gene. The single-stranded nucleic acid molecule includes: a region (X); a linker region (Lx); and a region (Xc). The linker region (Lx) is linked between the regions (Xc) and (Xc). The region (Xc) is complementary to the region (X). At least one of the regions (X) and (Xc) includes the expression inhibitory sequence. The linker region (Lx) has a non-nucleotide structure including at least one of a pyrrolidine skeleton and a piperidine skeleton. According to this single-stranded nucleic acid molecule, it is possible to inhibit the expression of the target gene.

Abstract: The invention is directed to compositions and methods for selectively reducing the expression of a gene product from a desired target gene in a cell, as well as for treating diseases caused by the expression of the gene. More particularly, the invention is directed to compositions that contain double stranded RNA (“dsRNA”), and methods for preparing them, that are capable of reducing the expression of target genes in eukaryotic cells. The dsRNA has a first oligonucleotide sequence that is between 25 and about 30 nucleotides in length and a second oligonucleotide sequence that anneals to the first sequence under biological conditions. In addition, a region of one of the sequences of the dsRNA having a sequence length of at least 19 nucleotides is sufficiently complementary to a nucleotide sequence of the RNA produced from the target gene to trigger the destruction of the target RNA by the RNAi machinery.