Abstract: The present invention relates to the NIPA-1 proteins and nucleic acids encoding the NIPA-1 proteins. The present invention further provides assays for the detection of NIPA-1 polymorphisms and mutations associated with disease states, as well as methods of screening for ligands and modulators of NIPA-1 proteins.

Abstract: The present invention relates to new methods for diagnosing a pregnancy-associated disorder by analyzing fetal DNA present in the mother's blood. More specifically, this invention relies on the discovery that the maspin gene is differentially methylated in fetal DNA and in maternal DNA and provides these new diagnostic methods, which distinguish fetal DNA from maternal DNA and detect prenatal disorders based on abnormalities in fetal DNA level and methylation status.

Abstract: The present disclosure provides methods, kits, and primers for analyzing AHASL genes of plants, including wheat. The methods, kits, and primers of the present disclosure can make use of forward AHASL primers designed without use of software or other assay-design technology and can be used in a real-time PCR assay to determine the zygosity of AHASL genes encoding AHAS enzymes providing tolerance to AHAS enzyme inhibitors.

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 knockdown of IQGAP1 dramatically inhibited thyroid cancer cell invasion and colony formation.

Abstract: A method for determining the prognosis of prostate cancer in a subject is provided which comprises the assessment of the methylation status of the HSPB1 gene in a prostate cancer sample.

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: This invention relates to test kits and methods for their use in determining the expression levels of genetic markers. Additionally, this invention relates to kits and uses thereof for the determination of ratios of genetic markers. Ratios of genetic markers can be used to assist in analysis of bladder cancer from samples of urine.

Abstract: The present invention relates to method and kit for performing a colorectal cancer assay. Especially a method including extracting total RNA from a peripheral blood sample obtained from a patient suspected of having or having colorectal cancer; contacting the total RNA, or cDNA or cRNA obtained from the total RNA, with one or more reagents specific for at least one target gene and no more than 100 target genes; and measuring the expression level of the at least one target gene and no more than 100 target genes. The at least one target gene and no more than 100 target genes includes one or more members selected from the group consisting of the KLRB1, KLRC2, KLRC3, KLRD1, KLRK1, CD247, RRAS2, SH2D1B, LCK, MRPS6, SPRY4, CYBB, DUSP2, PDE4D, SH2D2A, GZMB, INSR, ITGAM, VCAN, CD163, P2RY10, CD226, MRPL10, ITPRIPL2, CD2, and NUDT16 genes.

Abstract: The invention relates to a method for detecting several different chromosomes or DNA regions in a cell in order to provide evidence for structural chromosomal aberrations, wherein the chromosomal aberrations have at least two breaking point regions within a chromosome, on the basis of directly or indirectly labeled nucleic acid fragments (probes), wherein: a first probe labeled with label A (probe A) and a second probe labeled with label B (probe B) flank a breaking point region 1, and form the fusion signals A-B; and two probes, a third and a fourth, each labeled with a label C (probes C), flank a breaking point region 2, and form the fusion signals C-C, wherein the above-mentioned fusion signals change in the event of a chromosomal aberration to fusion signals A-C and to fusion signals B-C.

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.

Abstract: The application describes methods for diagnosing subjects with leukemia by detecting fusion genes associated with the onset of leukemia.

Abstract: The present invention relates to a method for detecting methylation of the bowel-cancer-specific methylation marker GPM6A (NM_201591, glycoprotein M6A) gene in order to diagnose bowel cancer, and more specifically relates to a method for providing information for diagnosing bowel cancer by detecting the methylation of a bowel-cancer-specific marker gene that is specifically methylated in bowel cancer cells. The method for detecting methylation and a diagnostic composition, kit and nucleic-acid chip according to the present invention can be used to advantage in diagnosing bowel cancer more accurately and quickly than by normal methods as they permit bowel cancer to be diagnosed at the initial genetic transformation step and so allow early diagnosis.

Abstract: The invention relates to the use of the TTC8 gene as a biomarker for the prognosis of a canine mammal developing progressive retinal atrophy. The invention also relates to in vitro methods of prognosing progressive retinal atrophy in a canine mammal by detecting a genetic variation within the TTC8 gene and to primers and prognostic kits for use in said method.

Abstract: Methods and kits for diagnosis, prognosis and treatment of metastatic tumors are provided where the metastatic tumor is characterized by changes in expression of +++, ++ and/or 11a variants of Mena.

Abstract: This invention relates to methods for determining the presence of cancer in a subject based on the analysis of the expression levels of an under-expressed tumor marker (TM) and at least one other TM. Specifically, this invention relates to the determination of a cancer, particularly bladder cancer, by performing ratio, regression or classification analysis of the expression levels of at least one under-expressed TM, particularly an under-expressed bladder TM (BTM), and at least one over-expressed TM, particularly an over-expressed BTM. In various aspects, the invention relates to kits and devices for carrying out these methods.

Abstract: The subject invention pertains to biomarkers for detecting vaginal epithelial cells in a sample, particularly, a forensic sample. In one embodiment, the level of methylation at the PFN3A locus in the genetic material isolated from the sample is used to detect and/or quantify vaginal epithelial cells in a sample. In another embodiment, the level of methylation at the PFN3A locus in the genetic material isolated from a sample is determined by pyrosequencing technique using specific primers described herein. A further embodiment of the invention provides a method of determining the level of methylation at the PFN3A locus in the genetic material isolated from a cell suspected of being a vaginal epithelial cell and that is isolated from a sample. Kits containing primers and reagents for carrying out the methods disclosed herein are also provided.

Abstract: The invention relates to a method for detecting the presence or absence of a bacterial pathogen in a biological sample obtained from a human or animal subject, using an internal control. In particular, the invention relates to a method for detecting the presence or absence of Streptococcus equi in an equine sample using a control bacterial strain as internal control for DNA extraction and PCR. The invention also relates to host cells (such as bacterial cells) and nucleic acids for use as internal standard in said method in addition to diagnostic kits comprising said host cells and nucleic acids.

Abstract: Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.

Abstract: An ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP) in a subject is provided which comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein that mutation is indicative of an hereditary spastic paraplegias (HSP).

Abstract: The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).