Abstract: Methods of detecting cervical dysplasia, such as cervical dysplasia likely to progress to carcinoma in a sample of human cervical cells, are provided. Methods of detecting changes in expression of one or more microRNAs or mRNAs associated with cervical dysplasia or cervical cancer are also provided. Compositions and kits are also provided.

Abstract: This invention provides a method for treating a human subject afflicted with multiple sclerosis or a single clinical attack consistent with multiple sclerosis with a pharmaceutical composition comprising glatiramer acetate and a pharmaceutically acceptable carrier, comprising the steps of 1) identifying whether the human subject is a predicted responder to glatiramer acetate by determining the genotype of the subject at one or more single nucleotide polymorphisms (SNPs) selected from the group consisting of the SNPs in Group 1; and 2) administering the pharmaceutical composition comprising glatiramer acetate and a pharmaceutically acceptable carrier to the subject only if the subject is identified as a predicted responder to glatiramer acetate.

Abstract: The invention provides methods and compositions for treating various degenerative diseases (e.g., AMD) with a factor D inhibitor (e.g., anti-factor D antibody or antigen-binding fragment thereof). Also provided are methods of selecting or identifying patients for treatment with a factor D inhibitor. Methods include the use of prognostic and/or predictive biomarkers.

Abstract: The present invention relates to non-invasive methods, kits and means for diagnosing and/or prognosing of a disease in a body fluid sample from a subject. Further, the present invention relates to set of polynucleotides or sets of primer pairs for detecting sets of miRNAs for diagnosing and/or prognosing of a disease in a body fluid sample from a subject.

Abstract: Disclosed herein are compounds, compositions and methods for modulating the expression of huntingtin in a cell, tissue or animal. Further provided are methods of slowing or preventing Huntington's Disease (HD) progression using an antisense compound targeted to huntingtin. Additionally provided are methods of delaying or preventing the onset of Huntington's Disease (HD) in an individual susceptible to Huntington's Disease (HD). Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders.

Abstract: The invention relates inhibiting nucleic acids directed at mammalian homologues of the Drosophila fwe gene (Flower) and to antibodies against the respective proteins, and their use in diagnosing, preventing and treating cancer.

Abstract: Aspects of the present invention include methods, compositions and kits for classifying a subject as having or being predisposed to a hematolymphoid neoplasm or malignancy if they harbor a mutation in the LNK gene. Aspects of the present invention also include screening for candidate agents for treating LNK mutation-based hematolymphoid neoplasms or malignancies in cell-based and cell free assays as well as therapeutic compositions for treating a LNK-mutant based hematolymphoid disorder. Also provided are compositions, systems, kits and computer program products that find use in practicing the subject methods.

Abstract: A method of determining the Crohn's disease status of a subject comprising the steps of determining the level of miR-29 in a sample from said subject; and comparing the level of miR-29 determined in step (a) with one or more reference values.

Abstract: The present invention relates to methods and means for making Vitamin K-dependent protein compositions which are devoid or substantially devoid of protein contaminants. In particular, methods and means useful for the reduction or elimination of protein contaminants also being Vitamin K-dependent proteins are described.

Abstract: The invention provides methods and compositions for modulating the expression, processing, post-translational modification, stability and/or activity of XBP-1 protein, or a protein in a signal transduction pathway involving XBP-I to treat dyslipidemias and steatosis disorders. The present invention also pertains to methods for identifying compounds that modulate the expression, processing, post-translational modification, and/or activity of XBP-I protein or a molecule in a signal transduction pathway involving XBP-1.

Abstract: Ovarian, cervical cancer, endometriosis, clear cell renal carcinoma cancers are very heterogeneous diseases which lack robust diagnostic, prognostic and predictive clinical biomarkers. Conventional clinical biomarkers (stages, grades, tumor mass etc) and molecular biomarkers (CA125, KRAS, p53 etc) are not appropriate for early diagnostics, differential diagnostics, prediction and prognosis of the disease outcome for individual patients. The most common type of the human ovarian cancers is human epithelial ovarian cancer (EOC). This cancer is characterized with one of the lowest survival rates compared to other cancers.

Abstract: Disclosed is a means for improving the clinical outcomes of cancer therapy. Specifically disclosed is an activity potentiator comprising a compound capable of inhibiting the expression of RFP (RET finger protein) gene or the activity of RFP as an active ingredient. The activity of an anti-cancer agent having an oxidative stress inducing ability can be potentiated by using the anti-cancer agent in combination with the activity potentiator. Further specifically disclosed are a biomarker useful for the recognition of prognosis in a cancer patient and use of the biomarker.

Abstract: The present disclosure relates to compositions and methods for cancer diagnosis, research and therapy, including but not limited to, cancer markers. In particular, the present disclosure relates to gene fusions as diagnostic markers and clinical targets for cancer.

Abstract: The present invention is related to a ribonucleic acid comprising a double stranded structure whereby the double-stranded structure comprises a first strand and a second strand, whereby the first strand comprises a first stretch of contiguous nucleotides and whereby said first stretch is at least partially complementary to a target nucleic acid, and the second strand comprises a second stretch of contiguous nucleotides whereby said second stretch is at least partially identical to a target nucleic acid, and whereby the double stranded structure is blunt ended.

Abstract: The present invention is related to an isolated human Apolipoprotein L-I corresponding to this wild type human Apolipoprotein sequence modified by a deletion at its C-terminal end.

Abstract: The invention relates to sense oligonucleotide having a sequence complementary to a single-stranded RNA (antisense transcript) having a sequence complementary to mRNA of iNOS gene in order to control expression of iNOS (inducible nitric oxide synthase). The sense oligonucleotide of the present invention can control expression of iNOS and is useful for biological defense and treatment and prevention of diseases related to excessive production of NO, such as cancerogenesis, inflammatory disease, endotoxin shock by bacterial infection and the like.

Abstract: The present invention relates to antisense oligonucleotides that modulate the expression of and/or function of Nuclear Respiratory Factor 1 (NRF1), in particular, by targeting natural antisense polynucleotides of Nuclear Respiratory Factor 1 (NRF1). The invention also relates to the identification of these antisense oligonucleotides and their use in treating diseases and disorders associated with the expression of NRF1.

Abstract: The invention relates to the diagnosis of bladder cancer and more specifically to the detection in urine samples of bladder carcinomas of the transitional type. The detection method according to the present invention enables, through the utilization of a DNA chip designed for this purpose, to determine the grade of the detected tumors.

Abstract: The present invention concerns the use of methods for evaluating bucindolol treatment for a patient, particularly one with heart failure. It concerns methods for determining whether to administer or prescribe bucindolol to a patient based on whether the patient is homozygous for the Arg 389 polymorphism in the ?1-adrenergic receptor (AR).

Abstract: Isolated histidyl-tRNA synthetase splice variant polynucleotides and polypeptides having non-canonical biological activities are provided, as well as compositions and methods related thereto.

Abstract: The invention relates to a method for the diagnosis of malignant diseases comprising the steps Provision of a sample obtained from a bodily fluid or bodily excretion as well as Determination of the concentration of snRNA RNU2-1 or their fragments in the sample, as well as a kit for the performance of this diagnosis, and the use of probes specific to RNU2-1 and fragments thereof.

Abstract: The present invention provides pharmaceutical formulations for oral administration of antisense oligonucleotides, such as antisense oligonucleotides against SMAD7. The pharmaceutical formulations can be used to treat Crohn's disease, ulcerative colitis and chronic inflammatory bowel disease.

Abstract: Provided herein are kits, compositions and methods for cancer diagnosis, research and therapy, including but not limited to, cancer markers. In particular, the present invention relates to recurrent RNA fusions as diagnostic markers and clinical targets for leukemia.

Abstract: The present invention concerns methods for controlling insect infestation via RNAi-mediated gene silencing, whereby the intact insect cell(s) are contacted with a double-stranded RNA from outside the insect cell(s) and whereby the double-stranded RNA is taken up by the intact insect cell(s). In one particular embodiment, the methods of the invention are used to alleviate plants from insect pests. Alternatively, the methods are used for treating and/or preventing insect infestation on a substrate or a subject in need of such treatment and/or prevention. Suitable insect target genes and fragments thereof, dsRNA constructs, recombinant constructs and compositions are disclosed.

Abstract: The present invention concerns a method for modulating double-strand break-induced homologous recombination through the identification of effectors that modulate said double-strand break-induced homologous recombination by uses of interfering agents; these agents are capable of modulating double-strand break-induced homologous recombination through their respective actions on said effectors. The present invention also concerns the uses of these effectors and interfering agents and derivatives, respectively, by introducing them in an eukaryotic cell in order to modulate and more particularly to increase double-strand break-induced homologous recombination and gene targeting efficiency. The present invention also relates to specific derivatives of identified effectors and interfering agents, vectors encoding them, compositions and kits comprising such derivatives in order to modulate and more particularly to increase double-strand break-induced homologous recombination and gene targeting efficiency.

Abstract: The disclosure relates to the field of human genetics, particularly the field of peripheral neuropathy, particularly inherited peripheral neuropathy. Specifically, the disclosure relates to methods and materials to detect hereditary peripheral neuropathy, more particularly autosomal recessive Charcot-Marie-Tooth disease.

Abstract: The present disclosure provides a composition for radiation exposure diagnosis including an agent for measuring an expression level of an insulin-like growth factor-binding protein-5 (IGFBP-5) gene at an mRNA or the protein and a kit for radiation exposure diagnosis. Methods of diagnosing radiation exposure as well as methods for screening an agent for enhancing radiation sensitivity or for radiation protection are disclosed. Also provided are compositions for enhancing radiation sensitivity and/or radiation protection.

Abstract: The present invention is directed to a method of diagnosis and prognostication of a hepatobiliary tumor, the method comprising the step of determining expression of MACC1 polypeptide or of a nucleic acid encoding said MACC1 polypeptide in a biological sample.

Abstract: The present invention relates to the selective inhibition of protein expression of CAG repeat-related disease proteins such as Huntingtin using nucleic acid analogs. Peptide nucleic acids and locked nucleic acids are particularly useful analogs.

Abstract: Described herein are nucleic acid based probes and methods for discriminating and detecting single nucleotide variants in nucleic acid molecules (e.g., DNA). The methods include use of a pair of probes can be used to detect and identify polymorphisms, for example single nucleotide polymorphism in DNA. The pair of probes emit a different fluorescent wavelength of light depending on the association and alignment of the probes when hybridized to a target nucleic acid molecule. Each pair of probes is capable of discriminating at least two different nucleic acid molecules that differ by at least a single nucleotide difference. The methods can probes can be used, for example, for detection of DNA polymorphisms that are indicative of a particular disease or condition.

Abstract: Methods and compositions for detecting and diagnosing Parkinson's disease are disclosed.

Abstract: Methods of detecting lung cancer, such as non-small cell lung cancer, including squamous cell carcinoma and adenocarcinoma, are provided. Methods of detecting changes in the levels of one or more small RNAs associated with lung cancer are also provided. Compositions and kits are also provided.

Abstract: New mutations were found in exon 19 of the EGFR gene, the exon that is often mutated in tumors. The invention comprises methods of detecting the mutations, methods of prognosis and methods of predicting response to treatment based on the presence of absence of the mutations.

Abstract: The invention relates to a double-stranded ribonucleic acid (dsRNA) targeting a G-alpha q subunit (GNAQ) of a heterotrimeric G gene, and methods of using the dsRNA to inhibit expression of GNAQ.

Abstract: The present invention provides a method for diagnosing schizophrenia, and a schizophrenia diagnostic reagent or device for use in the method. The present invention further provides a therapeutic or ameliorating agent for schizophrenia, which is effective for the treatment or amelioration of schizophrenia. The therapeutic or ameliorating agent for schizophrenia contains a carbonyl scavenger or a carbonyl-modified protein formation inhibitor as an active ingredient. The method for diagnosing schizophrenia according to the present invention includes measuring at least one parameter in a subject, the parameter being selected from the group consisting of: (1) a genetic abnormality of glyoxalase I gene; (2) the expression level or activity of glyoxalase I in a biological sample; (3) the amount of a carbonyl compound or a carbonyl-modified protein that is a protein modified with the carbonyl compound; and (4) the amount of pyridoxal in a biological sample.

Abstract: A switch mode nucleic acid aptamer probe includes a probe main body, a fluorescence generating unit and a fluorescence quenching unit which are respectively connected to two ends of the probe main body. The probe main body includes a nucleic acid aptamer fragment with a function of specifically recognizing target tumor cell and a nucleic acid fragment linked to the nucleic acid aptamer fragment by a connection fragment with a length of 7˜15 nm so as to form a hairpin structure. The ability of competitive hybridization of the nucleic acid fragment with the nucleic acid aptamer fragment is weaker than that of the target tumor cell. The use of the probe of the invention can be at least one of specific detection of tumor living cell in buffer solution, effective detection of tumor living cell in serum, and real-time fluorescence imaging and intravital detection of tumor in living body.

Abstract: Efficient sequence specific gene silencing is possible through the use of siRNA technology. By selecting particular siRNAs by rational design, one can maximize the generation of an effective gene silencing reagent, as well as methods for silencing genes. Methods, compositions, and kits generated through rational design of siRNAs are disclosed including those directed to nucleotide sequences for MYD88.

Abstract: Provided herein are methods for predicting efficacy of a DNA (cytosine-5)-methyltransferase 1 (DNMT1) inhibitor treatment in a subject having a cancer, methods of identifying a subject having a cancer that is more likely to respond to a DNMT1 inhibitor treatment, and methods of selecting a treatment for a subject having a cancer that include determining a level of SOX9 in a sample containing cells from a subject having a cancer. Also provided are methods of treating a subject having a cancer that include selectively administering a DNMT1 inhibitor to a subject having cancer determined to have an elevated level of SOX9 in a sample containing cells from the subject compared to a reference level. Also provided are antibodies and antigen-binding antibody fragments that specifically bind to SOX9, and nucleic acid sequences that contain at least 10 nucleotides complementary to a contiguous sequence present in a SOX9 nucleic acid for use in these methods.

Abstract: More than 2% of adults harbor a pancreatic cyst, a subset of which progress to invasive lesions with lethal consequences. To assess the genomic landscapes of neoplastic cysts of the pancreas, we determined the exomic sequences of DNA from the neoplastic epithelium of eight surgically resected cysts of each of the major neoplastic cyst types: serous cystadenomas (SCAs), intraductal papillary mucinous neoplasms (IPMNs), mucinous cystic neoplasms (MCNs) and solid pseudo-papillary neoplasms (SPNs). SPNs are low-grade malignancies, and IPMNs and MCNs, but not SCAs, have the capacity to progress to cancer. We found that SCAs, IPMNs, MCNs, and SPNs contained 10=4.6, 27=12, 16=7.6, and 2.9=2.1 somatic mutations per tumor, respectively. Among the mutations identified, E3 ubiquitin ligase components were of particular note. Four of the eight SCAs contained mutations of VHL, a key component of the VHL ubiquitin ligase complex that has previously been associated both with renal cell carcinomas, SCAs, and other neoplasms.

Abstract: Isolated nucleic acid sequence encoding the CD20 gene comprising SEQ ID NO: 5, recombinant vector comprising a nucleic acid sequence placed under the control of one or a plurality of elements required for the expression thereof in a host cell, and method for improving the efficacy of a treatment comprising using a nucleic acid sequence comprising SEQ ID NO: 5.

Abstract: The present invention provides a process for classification of cancers and tissues of origin through the analysis of the expression patterns of specific microRNAs and nucleic acid molecules relating thereto. Classification according to a microRNA tree-based expression framework allows optimization of treatment, and determination of specific therapy.

Abstract: The invention encompasses molecular beacon (MB) probes for monitoring the presence of human breast cancer biomarkers and for the analysis of breast cancer metastasis. The molecular beacon is an oligonucleotide probe which sensitively and specifically identifies biomarker mRNA in samples, in the presence of serum, in minimal time using fluorescence detection. The molecular beacons may be comprised in kits for the detection/quantitation of cancer biomarkers in clinical samples. The invention provides improvements in simplicity, accuracy, and speed over current methods, which could allow for improved patient treatment and prognoses.

Abstract: The invention relates to methods, compositions and kits for the diagnosis, detection, and treatment of ovarian cancer.

Abstract: Provided are antisense molecules capable of binding to a selected target site in the human dystrophin gene to induce exon skipping, and methods of use thereof to treat muscular dystrophy.

Abstract: In certain embodiments, this disclosure relates to assays for miR-182 and therapeutic applications. In certain embodiments, the disclosure relates to methods of evaluating a state of skeletal muscle atrophy comprising the steps of measuring miR-182 in a sample from a subject wherein decreased quantities of miR-182 indicates an increased state of muscle atrophy in the subject.

Abstract: The present invention provides a method for screening for iPS cells exhibiting differentiation resistance using a marker identified as lincRNA or mRNA that is specifically expressed in an iPS cell line exhibiting differentiation resistance, and such markers.

Abstract: Methods and kits for identifying a woman having an increased risk of developing venous thrombosis, requiring prophylactic or therapeutic treatment are provided, and methods for identifying an agent useful in prophylactically or therapeutically treating venous thrombosis in women, said methods comprising genotyping the woman with respect to the F9 G32023A (rs440051) polymorphism and/or the F9 5:32164:6/4 polymorphism (rs35599944).

Abstract: The identification of pre-defined mutations expected to be present in a minor fraction of a cell population is important for a variety of basic research and clinical applications. The exponential, analog nature of the polymerase chain reaction is transformed into a linear, digital signal suitable for this purpose. Single molecules can be isolated by dilution and individually amplified; each product is then separately analyzed for the presence of pre-defined mutations. The process provides a reliable and quantitative measure of the proportion of variant sequences within a DNA sample.

Abstract: The invention is concerned with a method of predicting a patient's susceptibility to developing hypertension associated with an anti-angiogenesis treatment, such as bevacizumab, by determining the genotype of KDR gene and/or EGF gene. The invention further relates to a pharmaceutical composition comprising an angiogenesis inhibitor, such as bevacizumab, for the treatment of a patient suffering from cancer based on the genotype of KDR gene and/or EGF. The invention further relates to a method for reducing the risk of hypertension associated with an anti-angiogenesis therapy, such as bevacizumab, in a patient suffering from cancer by determining the genotype of KDR gene and/or EGF gene.

Abstract: The present invention relates to the discovery that of a panel of serum or plasma markers may be used to diagnose Idiopathic Pulmonary Fibrosis (“IPF”) and distinguish this condition from other lung ailments. It further relates to the identification of markers associated with IPF disease progression.