Abstract: The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.

Abstract: Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1, EFHC1 agonists, or EFHC1 analogs are provided. Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1a, EFHC1a agonists, or EFHC1a analogs are provided.

Abstract: A novel gene (EPM2B) that is mutated in humans and dogs with Lafora's disease is described.

Abstract: The invention concerns an in vitro method of determining a genotype relating to hereditary nasal parakeratosis (HNPK) in a dog. According to the invention the presence or the absence of a genetic variation in the SUV39H2 gene sequence is indicative of said disorder. The invention also concerns polypeptide based methods for determining said disorder. Further, nucleic acids, polypeptides and antibodies usable in said method are disclosed.

Abstract: We examined IQGAP1 copy gain and its relationship with clinicopathologic outcomes of thyroid cancer and investigated its role in cell invasion and molecules involved in the process. We found IQGAP1 copy number (CN) gain ?3 in 1 of 30 (3%) of benign thyroid tumor, 24 of 74 (32%) follicular variant papillary thyroid cancer (FVPTC), 44 of 107 (41%) follicular thyroid cancer (FTC), 8 of 16 (50%) tall cell papillary thyroid cancer (PTC), and 27 of 41 (66%) anaplastic thyroid cancer, in increasing order of invasiveness of these tumors. A similar tumor distribution trend of CN ?4 was also seen. IQGAP1 copy gain was positively correlated with IQGAP1 protein expression. It was significantly associated with extrathyroidal and vascular invasion of FVPTC and FTC and, remarkably, a 50%-60% rate of multifocality and recurrence of BRAF mutation-positive PTC (P=0.01 and 0.02, respectively). The siRNA knock-down of IQGAP1 dramatically inhibited thyroid cancer cell invasion and colony formation.

Abstract: The present invention relates to a diagnostic composition for Alzheimer's disease which includes an agent measuring the methylation level of HMOX1 gene promoter, a diagnostic kit and a method for diagnosing Alzheimer's disease using the same.

Abstract: An object of the present invention is to provide a novel tumor marker and use thereof. In more detail, the present invention provides a novel tumor marker, a method for measuring said tumor marker and a measurement kit, a method for detecting cancer using the same, a kit for detecting cancer, a method for screening a preventive and/or therapeutic agent for cancer, as well as a medicament such as cancer vaccine. According to the present invention, a method for measuring an alternative splicing variant of OATPIB3 mRNA in a sample to be examined is provided. Said measurement method comprises measuring mRNA comprising a nucleotide sequence represented by SEQ ID NO: 1 in the sequence listing table in a sample to be examined isolated from living organism with differentiation from a mRNA comprising a nucleotide sequence represented by SEQ ID NO: 2. Said measurement method is useful for detecting cancer or screening a preventive and/or therapeutic agent.

Abstract: The invention relates to the diagnosis, prognosis, monitoring, and treatment of neoplastic diseases such as tumor diseases, especially tumor diseases of the endometrium and the metastases thereof.

Abstract: A method for detecting a genetic polymorphism associated with Lavender Foal Syndrome or a predisposition thereto in a subject, the method including screening a genomic material sample from the subject for the presence of at least one polymorphism in a MYO5A gene.

Abstract: The invention relates to methods for detecting an altered susceptibility to breast and ovarian cancer in a subject carrying a BRCA mutation, comprising determining the nucleic acid sequence of a polymorphism of a microRNA-related gene.

Abstract: Methods for predicting whether iloperidone will be efficacious in treating a psychotic symptom in an individual, based on the individual's genotype at one or more single nucleotide polymorphism (SNP) loci are described, as are methods for treating an individual based on such prediction.

Abstract: An ink, which contains DNA and is hardly decomposed by an external stimulus such as ultraviolet light, heat, an acid or an alkali, is provided. A method of easily analyzing a DNA in an ink composition is also provided. An ink composition containing a DNA and having a water-tolerance at a certain level or higher is prepared. The DNA in a print that is produced by using the above ink composition is quickly extracted with water or an aqueous solution and analyzed. Furthermore, a DNA in a print that is produced by using an oil- and water-based ink composition containing the DNA is quickly extracted with water or an aqueous solution and analyzed.

Abstract: The invention relates to methods of depleting RNA from a nucleic acid sample. The RNA may be any RNA, including, but not limited to, rRNA, tRNA, and mRNA. The method is useful for depleting RNA from a nucleic acid sample obtained from a fixed paraffin-embedded tissue (FPET) sample. The method may also be used to prepare cDNA, in particular, a cDNA library for further analysis or manipulation.

Abstract: Methods are provided for determining whether or not a horse is genetically normal, is a carrier of, or is affected with or predisposed to Congenital Stationary Night Blindness and/or leopard complex spotting. The method is based on detection of an insertion in an intron in the horse Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) gene.

Abstract: The present invention provides isolated nucleic acids encoding human SCA2 protein, or fragments thereof, and isolated SCA2 proteins encoded thereby. Further provided are vectors containing invention nucleic acids, probes that hybridize thereto, host cells transformed therewith, antisense oligonucleotides thereto and compositions containing antibodies that specifically bind to invention polypeptides, as well as transgenic non-human mammals that express the invention protein. In addition, methods for diagnosing spinocerebellar Ataxia Type 2 are provided.

Abstract: In a first aspect, the present invention features methods for differentiating DNA species originating from different individuals in a biological sample. These methods may be used to differentiate or detect fetal DNA in a maternal sample or to differentiate DNA of an organ donor from DNA of an organ recipient. In preferred embodiments, the DNA species are differentiated by observing epigenetic differences in the DNA species such as differences in DNA methylation. In a second aspect, the present invention features methods of detecting genetic abnormalities in a fetus by detecting fetal DNA in a biological sample obtained from a mother. In a third aspect, the present invention features methods for differentiating DNA species originating from an organ donor from those of an organ recipient. In a fourth aspect, the present invention features kits for differentiating DNA species originating from different individuals in a biological sample.

Abstract: The application relates to Canine Cox2 allelic variants associated with Juvenile Renal Dysplasia, primer and probe compositions and methods and kits useful in detecting, monitoring and diagnosing Juvenile Renal Dysplasia or calcium oxalate stones.

Abstract: Provided is a method for determining whether a horse is normal, a carrier, or is affected with Lavender Foal Syndrome (LFS). The method entails, in a biological sample obtained or derived from a horse, determining a single nucleotide deletion which introduces a translational stop codon in the 49th codon of exon 30 of the equine MYO5A gene. Homozygosity for the absence of the deletion is indicative that the horse is normal for LFS. Heterozygosity for the deletion is indicative that the horse is a carrier of LFS. Homozygosity for the deletion is indicative that the horse is affected with LFS. Methods for selecting horses for breeding and kits for determining the LFS-associated deletion are also provided.

Abstract: DNA oligomers comprising sequences that are absent from the genome of one or more organisms of interest are used as reference markers (RMs). The RMs are added to biological samples to “tag” and subsequently identify the samples as authentic and to distinguish tagged samples from samples obtained without said markers, for example, in forensic, medical, legal and other applications.

Abstract: This invention is related to novel PNA probes, probe sets, methods and kits pertaining to the detection of one or more species of Candida yeast. Non-limiting examples of probing nucleobase sequences that can be used for the probes of this invention can be selected from the group consisting of: AGA-GAG-CAG-CAT-GCA (Seq. Id. No. 1), AGA-GAG-CAA-CAT-GCA (Seq. Id. No. 2), ACA-GCA-GAA-GCC-GTG (Seq. Id. No. 3), CAT-AAA-TGG-CTA-CCA-GA (Seq. Id. No. 4), CAT-AAA-TGG-CTA-CCC-AG (Seq. Id. No. 5), ACT-TGG-AGT-CGA-TAG (Seq. Id. No. 6), CCA-AGG-CTT-ATA-CTC-GC (Seq. Id. No. 7), CCC-CTG-AAT-CGG-GAT (Seq. Id. No. 8), GAC-GCC-AAA-GAC-GCC (Seq. Id. No. 9), ATC-GTC-AGA-GGC-TAT-AA (Seq. Id. No. 10), TAG-CCA-GAA-GAA-AGG (Seq. Id. No. 11), CAT-AAA-TGG-CTA-GCC-AG (Seq. Id. No. 12), CTC-CGA-TGT-GAC-TGC-G (Seq. Id. No. 13), TCC-CAG-ACT-GCT-CGG (Seq. Id. No. 14), TCC-AAG-AGG-TCG-AGA (Seq. Id. No. 15), GCC-AAG-CCA-CAA-GGA (Seq. Id. No. 16), GCC-GCC-AAG-CCA-CA (Seq. Id. No. 17), GGA-CTT-GGG-GTT-AG (Seq. Id. No.