Abstract: The present invention provides compositions and methods based on genetic polymorphisms that are associated with autoimmune disease, particularly rheumatoid arthritis. 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: Provided herein is technology relating to detecting neoplasia and particularly, but not exclusively, to methods, compositions, and related uses for detecting premalignant and malignant neoplasms such as colorectal cancer.

Abstract: The invention comprises reagents and methods for detecting cancer-associated mutations in the human EZH2 gene. Further, a method of detecting the mutations and a method of treatment are disclosed.

Abstract: The invention includes methods for obtaining samples of maternal tissue from seeds, obtaining genetic material from the maternal seed tissue, and performing a molecular analysis on the genetic material from the maternal seed tissue to determine maternal lineage of a single seed. The invention also includes methods for establishing a consensus maternal genotype from maternal seed tissues obtained from multiple seeds as well as methods for determining paternal lineage.

Abstract: It is intended to provide a rapid, convenient, and highly accurate method for determining the prognosis of cancer. The present invention provides a method for determining the prognosis of a renal cell carcinoma patient, comprising: (1) treating genomic DNA prepared from a renal tissue of a subject with bisulfite; (2) amplifying the bisulfite-treated DNA by PCR; (3) subjecting the obtained PCR amplification product to ion exchange chromatography; (4) obtaining the retention time of a detection signal obtained by the chromatography; and (5) determining the renal cell carcinoma of the subject as having poor prognosis when the result of the step (4) is shorter than a retention time serving as a reference.

Abstract: An assay for a GCH1 allele and associated genotype for the screening, prediction, diagnosis, prognosis, treatment and treatment response of psychiatric, neuropsychiatric, and neurological disorders, such as schizophrenia, schizoaffective disorder and bipolar disorder, and for defining treatments of such disorders. The presence of a variant in the GCH1 gene, alone or in conjunction with a measurement of low or altered biopterin, or altered BH4 system measures, is used to screen or diagnose subjects at risk for developing a psychiatric, neuropsychiatric, or neurological disorder. The genetic assay, with or without a biopterin or BH4 system assay, may also be used to determine treatment regimens. For subjects with an impaired BH4 system, treatments to increase or normalize biopterin, BH4, or the BH4 system can also be used, such as BH4 supplementation, lithium treatment, phenylalanine treatment, or other treatments and therapies.

Abstract: The present disclosure relates to particular nucleotide sequences comprising of at least one stem and/or loop structure and which optionally bind fluorescent labels, for example DFHBI and a process for obtaining said sequences. The present disclosure also provides nucleic acid sensor for cAMP comprising reporter domain, communication module and target recognition domain. Further, the present disclosure provides for ratiometric sensors 10 for quantifying cAMP using the nucleic sensors of the instant invention. The instant disclosure further provides method for obtaining the sensors, method for detecting and measuring small molecules, such as cAMP using the sensors of the instant disclosure and kits thereof.

Abstract: The invention relates generally to the THAP1 gene and mutations in this gene, as well as the THAP1 protein and mutations in this protein, that are associated with dystonia. The invention relates to the identification, isolation, cloning and characterization of the DNA sequence corresponding to the wild type and mutant THAP1 genes, as well as isolation and characterization of their transcripts and gene products. The invention further relates to methods and kits useful for detecting mutations in THAP1 that are associated with dystonia, as well as to methods and kits useful for diagnosing dystonia. The present invention also relates to therapies for treating dystonia, including gene therapeutics and protein/antibody based therapeutics.

Abstract: Disclosed herein is a method of determining whether a subject having or is at risk of developing lung cancer. The presence of the SNP locus of rs193100333, which corresponds to a mutation on YAP1 protein with a substitution of an arginine to a tryptophan at position 331, indicates the subject has or is at risk of developing lung cancer. Accordingly, also disclosed herein is a kit for facilitating the detection of the SNP locus of rs193100333.

Abstract: Disclosed are methods and compositions related to a BRAF mutation and microsatellite stability.

Abstract: Pancreatic Neuroendocrine Tumors (PanNETs) are a rare but clinically important form of pancreatic neoplasia. To explore the genetic basis of PanNETs, we determined the exomic sequences of ten non-familial PanNETs and then screened the most commonly mutated genes in 58 additional PanNETs. Remarkably, the most frequently mutated genes specify proteins implicated in chromatin remodeling: 44% of the tumors had somatic inactivating mutations in MEN-1, which encodes menin, a component of a histone methyltransferase complex; and 43% had mutations in genes encoding either of the two subunits of a transcription/chromatin remodeling complex consisting of DAXX (death-domain associated protein) and ATRX (alpha thalassemia/mental retardation syndrome X-linked). Clinically, mutations in the MEN1 and DAXX/ATRX genes were associated with better prognosis.

Abstract: Methods for diagnosing and treating Müllerian Adenosarcoma that include detecting the presence of one or more of a mutation in an ATRX gene, and/or a Copy Number Variation (CNV) in a MYBL1, MDM2, HMGA2, and/or CDK4 gene.

Abstract: Single nucleotide polymorphic sites at positions 19069 and 25402 of the bovine STAT3 gene are associated with improved fertilization rate and/or improved embryo survival rate. The interactions between these two polymorphisms, and between them and the bovine STAT1 gene and fertilization and early embryonic survival rates were also disclosed. The interactions between STAT3 SNPs, and between STAT1 and STAT3 SNP19069 were highly significant for embryonic survival rate. Also disclosed are nucleic acid molecules, kits, methods of genotyping and marker assisted bovine breeding methods.

Abstract: The present disclosure describes the identification of single nucleotide polymorphisms (SNPs) in inflammatory diseases and uses thereof, and methods of screening for, diagnosing, identifying susceptibility to or detecting a risk of developing an inflammatory disease comprising detecting the presence or absence of at least one SNP identified in a gene associated with inflammatory disease.

Abstract: The present invention relates to the field of pharmacogenomics and in particular to detecting the presence or absence of hypermethylated DNA. The detection of CpG methylation in marker DNA is useful for the diagnosis of cancers and the invention provides improved methods for this purpose. These improved methods allow in particular for a more sensitive detection of methylated marker DNA with high backgrounds of unmethylated marker DNA.

Abstract: The present invention provides specific nucleic acid sequences for use in the identification, classification and diagnosis of various sub-types of lung cancers. The present invention permits one to accurately classify lung cancers based on their miR expression profile without further manipulation. Using microRNA microarray data generated from over two hundred formalin-fixed paraffin-embedded (FFPE) resection samples, fine needle aspiration (FNA) samples and fine needle biopsy (FNB) samples of primary lung cancer, microRNA expression profiles were identified that differ significantly for various sub-types of lung cancer.

Abstract: The present disclosure provides methods and kits that can be used to determine the grade or stage of a breast or other cancer, such as a ductal carcinoma in situ (DCIS). By determining the grade, stage, or aggressiveness of a cancer, appropriate therapeutic regiments can be selected and administered to the patient with the cancer. The method includes detecting osteopontin-c (OPN-c), wherein the presence of high amounts of OPN-c in the cancer sample indicates that the subject has a more aggressive form of cancer (e.g., grade 3).

Abstract: The present invention relates to a method for detecting lung cancer using a lung cancer-specific biomarker, and more particularly to a biomarker for lung cancer diagnosis, which can detect methylation of PCDHGA12 gene whose 5?UTR or exon 1 region is specifically methylated in lung cancer cells, and to a method of detecting lung cancer and the stage of its progression using the biomarker. The diagnostic kit according to the present invention makes it possible to diagnose lung cancer at an early stage in an accurate and rapid manner compared to conventional methods and can be used for prognosis and monitoring of lung cancer and the stage of its progression.