Abstract: The present disclosure provides methods and systems for determining and/or characterizing one or more haplotypes and/or phasing of haplotypes in a nucleic acid sample. In particular, the disclosure provides methods for determining a haplotype and/or phasing of haplotypes in a nucleic acid sample by incorporating synthetic polymorphisms into fragments of a nucleic acid sample and utilizing the synthetic polymorphisms in determining one or more haplotypes and/or phasing of haplotypes.

Abstract: The present invention provides methods and compositions relating to an assay for hERG channel protein sensitivity to small molecule pharmacological agents. In one embodiment, the invention includes an engineered hERG channel protein. In another embodiment, the invention includes a method of identifying small molecule pharmacological agents that interfere with repolarization of cardiac cells.

Abstract: Disclosed herein are anti-lymphocyte antigen 6 complex, locus H (LY6H) antibodies and antibody drug conjugates (ADCs), including compositions and methods of using said antibodies and ADCs.

Abstract: A biosensor is provided. The biosensor includes a substrate, a plurality of photodiodes, a polarizing element and a plurality of reaction sites. The plurality of photodiodes are embedded in the substrate. The polarizing element is disposed on the substrate. The plurality of reaction sites are disposed on the polarizing element.

Abstract: Infusion devices and related medical devices, patient data management systems, and methods are provided for monitoring a physiological condition of a patient. An exemplary infusion device includes an actuation arrangement operable to deliver fluid to a user, a communications interface to receive measurement data indicative of a physiological condition of the user, a sensing arrangement to obtain contextual measurement data, and a control system coupled to the actuation arrangement, the communications interface and the sensing arrangement to determine a command for autonomously operating the actuation arrangement in a manner that is influenced by the measurement data and the contextual measurement data and autonomously operate the actuation arrangement in accordance with the command to deliver the fluid to the user.

Abstract: Provided herein are chimeric antigen receptors (CARs) for cancer therapy, and more particularly, CARs containing a scFv from an anti-MUC16 monoclonal antibody. Provided are immune effector cells containing such CARs, and methods of treating proliferative disorders.

Abstract: A method of treating Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), a cardiomyopathy or a muscular traumatism in a subject includes administering to the subject certain ADP ribosylcyclase antagonist compounds, certain cyclic ADP ribose (cADPR) antagonist compounds, certain nicotinic acid adenine dinucleotide phosphate (NAADP) antagonist compounds or a mixture of these compounds.

Abstract: Methods for diagnosing or monitoring endometriosis in a mammal are provided. The methods include the steps of determining the expression levels of BDNF, glycodelin and optionally ZAG, in a biological sample from the mammal, and determining that the mammal has endometriosis when the biomarker expression levels in the sample are elevated.

Abstract: Methods of selecting a subject for treatment of amyotrophic lateral sclerosis (ALS) and methods of treatment for subjects having ALS or at risk of developing ALS are provided. The method of selecting subjects for treatment includes obtaining a biological sample from the subject, where the sample is obtained from the subject's gastrointestinal tract or skeletal muscle. The method further includes measuring a biomarker in the subject's sample and selecting the subject for treatment of ALS when the biomarker measurement in the subject's sample is lower or higher relative to a control measurement.

Abstract: Treatment of testosterone deficiency in men by a precision medicine approach using a biomarker of activity of UGT2B17 that is involved in testosterone urinary elimination. By inhibiting UGT2B17, alone or in combination with administration of testosterone, testosterone deficiency in men can be treatable. Further, a method of dose selection for precise dosing of UGT2B17 substrate drugs is provided. Additionally, methods for safe dosing of pharmaceutical agents that undergo UGT2B17-mediated acyl glucuronidation are provided.

Abstract: The present invention provides a method of inhibiting tumor-mediated immunosuppression in a subject, comprising administering to the subject a therapeutically effective amount of an agent that inhibits the activity of Semaphorin 4D.

Abstract: A method for sequencing a nucleic acid template includes forming a nanowire assembly including a semiconductor nanowire and a probe covalently bound to the semiconductor nanowire; contacting the nanowire assembly with a template nucleic acid; contacting the nucleic acid duplexes with an extension nucleic acid, the extension nucleic acid joined to the probe; disrupting the nucleic acid duplexes; and measuring an electrical characteristic of a nanowire assembly of the set of nanowire assemblies.

Abstract: Provided is a method of selecting a stent for implantation in the circulatory system of a human being. The method comprises obtaining a blood sample from a patient who requires implantation of a stent and testing said blood sample to determine a platelet coagulability level. The determined platelet coagulability level of said blood sample is compared with a threshold level of blood platelet coagulability. A determined platelet coagulability level above said threshold level indicates that a risk of restenosis is relatively high. If the determined platelet coagulability level is below said threshold level, a bare metal stent is selected. If the determined platelet coagulability level is at or above said threshold level, a drug-eluting stent is selected.

Abstract: The present disclosure provides methods and compositions that are useful for diagnosing the presence or absence of endometriosis and the severity of endometriosis in a subject. The methods and compositions are also useful for distinguishing endometriosis from other uterine or pelvic pathologies in a subject. Also described are sets of genes whose expression levels in a biological sample are diagnostic for endometriosis, and compositions useful for diagnosis, prognosis, and/or treatment of endometriosis.

Abstract: The present invention relates in general to the field of recombinant protein expression. In particular, the present invention relates to a method for selecting a suitable candidate cell clone for recombinant protein expression and to a host cell for recombinant protein expression, the host cell exhibiting artificially modified gene expression of at least one gene selected from the group consisting of: Fkbp10, ZdhhC6, Myrip, Actc1, AC124993.19, Runx2, AC158560.4, PlekhB1, Rps6KA2, Sept1, Sprr2k, and Flt1.

Abstract: The present invention addresses the problem of how to provide a predictive marker useful for carcinogenesis surveillance after hepatitis C virus eradication. Provided is a predictive marker composed of a single nucleotide polymorphism specified by rs17047200. In the present invention, the single nucleotide polymorphism is detected in nucleic acid samples collected from subjects, thereby to examine the risk of developing hepatocellular carcinoma after of hepatitis C virus eradication.

Abstract: Disclosed herein are methods of detecting, predicting or monitoring a status or outcome of a transplant in a transplant recipient.

Abstract: The present embodiments provide for compositions and methods that regulate microRNA-binding protein-mediated miRNA biogensis; for example Lin28-mediated biogenesis of let-7; and in particular Lin28A-recruited 3? terminal uridylyl transferase (TUTase) uridylation of pre-let-7. A particular embodiment provide compositions and methods for screening for agents that inhibit TUTase-dependent Lin28A-mediated repression of let-7 miRNA.

Abstract: The disclosure generally relates to compositions and methods for the extraction of nucleic acids from biological samples. In particular embodiments the extraction involves mixing dibromochloromethane, iodochloromethane or mixtures thereof with a biological sample that has been mixed with a phenol-based extraction solution. Centrifugation of the sample is not needed to achieve phase separation which occurs using the present methods in as little as one to two minutes with no phenol carryover.

Abstract: The present invention provides gene expression profiles indicative of whether a patient afflicted with PR driven malignancies is likely to be responsive to treatment with a therapeutic compound that is an anti-progestin. By identifying such responsiveness, a treatment provider may determine in advance those patients who would benefit from such treatment, as well as identify alternative therapies for non-responders. Also, provided are methods of using gene expression profiles and assays for identifying the presence of a gene expression profile in a patient.

Abstract: Methods of treating a food allergy, allergic reactions, hypersensitivity, inflammatory responses, inflammation are provided. In one method, histamine releasing factor (HRF)/translationally controlled tumor protein (TCTP) is contacted with a compound that inhibits or reduces binding of HRF/TCTP to an immunoglobulin in order to treat the food allergy, allergic reaction, hypersensitivity, inflammatory response, or inflammation. Methods of reducing or decreasing the probability, severity, frequency, duration or preventing a subject from having an acute or chronic food allergy, allergic reaction, hypersensitivity, an inflammatory response or inflammation, are also provided.

Abstract: Fungal artificial chromosome (FAC) vectors are disclosed. A vector can be replicated in a bacterial or a fungal host, and can comprise an insert of heterologous DNA up to about 500 kilobases. A vector can be used for cloning and expressing a secondary metabolite (SM) gene cluster. An insert sequence can be modified by homologous recombination. A vector can be a plasmid comprising bacterial and fungal origins of replication, as well as bacterial and fungal selection marker genes. Also disclosed are vectors that can be integrated into a fungal genome, and dual function vectors which can be replicated in a bacterial or a fungal host and can also be integrated into a fungal genome. Also disclosed are methods of generating plasmid libraries including vectors comprising intact SM gene clusters.

Abstract: Disclosed are fusion protein constructs comprising a functional mitochondrial protein, that can enter mitochondria within intact cells. Further disclosed are methods of treating mitochondrial disorders by the disclosed fusion proteins and compositions therefor.

Abstract: Methods for assessing infertility and related pathologies and informing treatment type and timing thereof are provided. According to certain embodiments, methods of the invention include determining levels of one or more transcripts present in a sample obtained from a subject suspected of having endometriosis, identifying transcript levels that correspond to a regulation pattern specific to a time-point in a uterine cycle, and characterizing endometriosis of the subject based upon the identified transcript levels. The invention includes methods for assessing age-associated increase in aneuploidy rates based on FSH levels and IVF success rates based on obesity in PCOS patients.

Abstract: Described are methods and structures associated with live cell analysis apparatus. A live cell analysis apparatus may include at least one data processor that is configured to process a sequence of images of live cells to determine motion of one or more live cells. The motion may be in response to applied electrical stimulations. The apparatus and methods may be used to determine a refractory period for cardiomyocytes from the determined motion.

Abstract: Methods and kits are provided for diagnosing, monitoring, or predicting preeclaimpsia in a pregnant woman, trisomy 18 and trisomy 21 in a fetus, as well as for detecting pregnancy in a woman, by quantitatively measuring in the maternal blood the amount of one or more RNA species derived from a set of genetic loci and comparing the amount of the RNA species with a standard control.

Abstract: The present invention provides a method for enhancing N-acetylglucosamine production by usage of a recombinant Bacillus subtilis with a glcK knockout. This invention enhanced the production of GlcNAc by knocking out the glcK gene which encodes a glucokinase, thus eliminating the GlcNAc phosphorylation to GlcNAc-6-P. The specific growth rate and content of GlcNAc in the supernatant of the recombinant Bacillus subtilis with the glcK knockout were 0.15 h?1 and 3.0 g/L, respectively, which were 2.32 times and 2.14 times of those of the control strain without glcK knockout. The recombinant Bacillus subtilis of the present invention would be potentially useful for industrial production of GlcNAc.

Abstract: Methods for detecting endometrial diseases or an endometrium phase in a subject are described comprising measuring endometrial markers or polynucleotides encoding the markers in a sample from the subject. The invention also provides localization or imaging methods for endometrial diseases, and kits for carrying out the methods of the invention. The invention also contemplates therapeutic applications for endometrial diseases employing endometrial markers, polynucleotides encoding the markers, and/or binding agents for the markers.

Abstract: The present disclosure relates to improved methods for the isolation of genomic material and detection of disease related single nucleotide polymorphisms. In some aspects, these methods increase the total recovery of genomic DNA from buccal cell samples by improving cell lysis conditions. In other aspects, these methods allow for the reuse of patient buccal swab samples, reducing the likelihood of having to collect additional patient samples for re-testing. Finally, in some aspects, these methods increase the sensitivity of SNP detection using an improved real-time PCR assay protocol.

Abstract: Provided herein are primers comprising a nucleotide sequence complementary to a portion of a RhD gene. Also provided herein are methods of determining a RhD zygosity in a subject. Also provided are methods of detecting a weak D allele in a subject. Further provided are kits for determining an RhD zygosity.

Abstract: A particle detector includes: a conductive nanolayer; insulating nanolayers attached to both sides of the conductive nanolayer; a nanopore formed to penetrate the conductive nanolayer and the insulating nanolayers so as to provide a migration path for a sample particle; a power supply unit configured to apply an electric field between both ends of the nanopore so as to apply a potential to the conductive nanolayer; and an electric signal measuring unit electrically connected to the conductive nanolayer and configured to measure the potential change in the conductive nanolayer induced by the sample particle as the sample particle migrates through the nanopore. The particle detector is capable of detecting a particle with high signal-to-noise ratio and resolution, scanning a sample without mechanical motion of the conductive nanolayer and analyzing DNA base sequences.

Abstract: The present invention relates to polypeptides, preferably from Drosophila melanogaster (DmShaI) as target for insecticides.

Abstract: The present invention relates to mutations in Epidermal Growth Factor Receptor (EGFR) and methods of detecting such mutations as well as prognostic methods method for identifying a tumors that are susceptible to anticancer therapy such as chemotherapy and/or kinase inhibitor treatment. The methods involve determining the presence of a mutated EGFR gene or mutated EGFR protein in a tumor sample whereby the presence of a mutated EGFR gene or protein indicates the tumor is susceptible to treatment.

Abstract: The present invention provides a tag peptide comprising an amino acid sequence represented by the following formula (I): X1-Tyr-X2-Gly-Gln-X3??(I) (wherein X1, X2 and X3 are the same or different and each represent any amino acid residue) and an antibody against the tag peptide. By combined use of the tag peptide and antibody of the present invention, a system that enables proteins expressed from cloned genes to be highly purified in an inexpensive and easy manner can be established.

Abstract: A variety of methods, devices and compositions are implemented for light-activated molecules. One such method is implemented for generating secondary messengers in a cell. A nucleotide sequence for expressing a chimeric light responsive membrane protein (e.g., rhodopsin) is modified with one or more heterologous receptor subunits {e.g., an adrenergic receptor (alpha1, Beta2)}. The light responsive membrane protein is expressed in a cell for producing a secondary messenger in response to light.

Abstract: The identification of novel Syndecan-2 splice variants and their use in the diagnosis and therapeutic intervention of Alzheimer's disease and other amyloid diseases. In addition the use of new animal models expressing or devoid of syndecan-2 splice variants to effectively screen and identify potential therapeutic compounds for Alzheimer's disease.

Abstract: The present invention relates to means and methods of determining whether a tumor cell or a cancer cell is responsive to an anti-CD44 antibody or to an antigen binding fragment thereof. The method comprises the determination of the major CD44 isoform in a sample, wherein if the major CD44 isoform is CD44s, the tumor cell or cancer cell is responsive to said anti-CD44 antibody. Also means and methods of treating a cancer patient that has been determined to respond to an anti-CD44 antibody are subject of the present invention.

Abstract: The invention provides to methods for diagnosing eye-length related disorders, including myopia. The invention also provides methods for treating and limiting eye-length related disorders, including myopia. In addition, the invention provides certain haplotypes associated with eye-length related disorders, including myopia and Bornholm Eye Disease.

Abstract: The present invention provides a method of screening for a compound that enhances or inhibits the transport activity of OATP1B1, using dichlorofluorescein. The present invention also provides a use of dichlorofluorescein in measurement of the expression level of OATP1B1. The present invention further provides a method for measuring the expression level of OATP1B1 in test cells, using dichlorofluorescein. The present invention further provides a use of a kit including dichlorofluorescein and positive cells expressing OATP1B1 in measurement of the expression level of OATP1B1 in test cells.

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 cell based assay for detection for protease activity is disclosed. In the assay a cell is engineered to express a protease substrate with at least one label, preferably on its C-terminus. Cleavage of the substrate by the protease that recognizes it results in a C-terminal fragment and a N-terminal fragment, where the fragment having the label is subject to ubiquitin proteasome degradation. The assay measures the disappearance of the label due to degradation of the fragment to which it is attached. A cell free assay is also described for detection of protease activity. In the cell free assay, the protease substrate is expressed in a solution that includes the elements of the ubiquitin proteasome pathway for degradation of the fragment. The assay measures the disappearance of the label attached to the fragment that results from cleavage by the protease.

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: Application of oligonucleotide and polypeptide sequences of molecules of the family of the vascular permeability factor (VPF), their receptors, and co-receptors, as well as their modifications, in the active immunotherapy of pathologic entities in which course is associated to the increase of angiogenesis. These procedures can be employed in the single or combined therapy for the treatment of cancer and its metastasis, acute and chronic inflammatory processes, infectious diseases, autoimmune diseases, diabetic and newborn retinopathies, organ transplant rejection, macular degeneration, neovascular glaucoma, hemangioma, and angiofibroma, among others.

Abstract: The present disclosure relates to a soluble CD52 glycoprotein and its use in treating diseases regulated by effector T-cells, for example autoimmune diseases such as type 1 diabetes. The present disclosure also relates to fusion proteins comprising the soluble glycoprotein, to cells expressing high levels of CD52, and to diagnostic methods based on the detection of CD52 expression levels in a subject.

Abstract: The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype.

Abstract: The present invention provides a novel method for identifying an olfactory receptor included in one olfactory cell. In the present invention, amplified is the cDNA derived from the mRNA of the one olfactory cell by a PCR method using a forward primer represented by SEQ ID: 01 and a reverse primer represented by SEQ ID: 02. Subsequently, determined is whether or not a gene sequence of the amplified cDNA corresponds with one gene sequence included in gene sequences coding for olfactory receptors included in the mouse olfactory receptor group A. Finally, determined is that the olfactory receptor included in the one olfactory cell is the olfactory receptor which corresponds to the one gene sequence which corresponds with the gene sequence of the cDNA in the previous step, if the gene sequence of the cDNA corresponds with the one gene sequence in the previous step.

Abstract: Described herein are glucose and insulin sensors. The sensors are composed of host cells with DNA specifically designed to produce fluorescence when the cells come into contact with glucose and/or insulin in the sample. Once the fluorescence has been quantified, it can be correlated with the amount of glucose and/or insulin present in the sample.

Abstract: A non-immunogenic selection epitope may be generated by removing certain amino acid sequences of the protein. For example, a gene encoding a truncated human epidermal growth factor receptor polypeptide (EGFRt) that lacks the membrane distal EGF-binding domain and the cytoplasmic signaling tail, but retains an extracellular epitope recognized by an anti-EGFR antibody is provided. Cells may be genetically modified to express EGFRt and then purified without the immunoactivity that would accompany the use of full-length EGFR immunoactivity. Through flow cytometric analysis, EGFRt was successfully utilized as an in vivo tracking marker for genetically modified human T cell engraftment in mice. Furthermore, EGFRt was demonstrated to have cellular depletion potential through cetuximab mediated antibody dependent cellular cytotoxicity (ADCC) pathways.

Abstract: The present invention relates to the discovery that the T1R receptors assemble to form functional taste receptors. Particularly, it has been discovered that co-expression of T1R1 and T1R3 results in a taste receptor that responds to umami taste stimuli, including monosodium glutamate. Also, it has been discovered that co-expression of the T1R2 and T1R3 receptors results in a taste receptor that responds to sweet taste stimuli including naturally occurring and artificial sweeteners. Also the present invention relates to the use of hetero-oligomeric taste receptors comprising T1R1/T1R3 and T1R2/T1R3 in assays to identify compounds that respectively respond to umami taste stimuli and sweet taste stimuli.

Abstract: The use of salt-inducible kinase 3 allows screening for a substance having an effect of increasing cartilage volume and/or an effect of normalizing chondrocyte differentiation. A modified chondrocyte in which the expression or function of salt-inducible kinase 3 gene is inhibited or enhanced can be used to ameliorate a disease associated with reduced cartilage volume and/or a disease associated with impaired cartilage growth.