145 results about "Genetic Alteration" patented technology

The present invention provides methods of designing PCR primers that allow the efficient and simultaneous amplification of a large number of different desired DNA fragments in a single multiplex PCR and minimize the formation of nonspecific extensions of undesired DNA fragments. The present invention allows a multiplex PCR to use at least 50 pairs of primers and produce at least 50 DNA fragments of interest. The present invention significantly broadens the application of multiplex PCR in the identification of multiple genes related to multifactorial diseases, the genome-scale detection of genetic alterations, the studies in large-scale pharmacogenetic reactions, the genotyping genetic polymorphism in a large population, the gene expression profiling in various samples, and high throughput genotyping technologies.

The present invention provides methods, compositions and kits for the characterization of cellular pathways in cells containing genetic alterations.

An improved method of nuclear transfer involving the transplantation of differentiated donor cell nuclei into enucleated oocytes of a species different from the donor cell is provided. The resultant nuclear transfer units are useful for the production of isogenic embryonic stem cells, in particular human isogenic embryonic or stem cells. These embryonic or stem-like cells are useful for producing desired differentiated cells and for introduction, removal or modification, of desired genes, e.g., at specific sites of the genome of such cells by homologous recombination. These cells, which may contain a heterologous gene, are especially useful in cell transplantation therapies and for in vitro study of cell differentiation. Also, methods for improving nuclear transfer efficiency by genetically altering donor cells to inhibit apoptosis, select for a specific cell cycle and/or enhance embryonic growth and development are provided.

The present disclosure provides for compositions and methods for the testing and analysis of genetic alterations of a sample comprising maternal and fetal polynucleotides. Generally, the composition and methods of this disclosure provide for the isolation of a mixture of maternal and fetal polynucleotides from a sample, generally from the mother. Polynucleotides are isolated and purified and further tested to determine the presence or absence of genetic alterations, such as copy number variation, or causal variants at one or more loci in the sample.

The present disclosure provides for compositions and methods for genetic analysis of embryos. Generally, the compositions and methods provide for the acquisition of an sample containing RNA from an embryo, genetic analysis involving various techniques such as sequencing-, hybridization- or amplification-based methods, and the detection of genetic alterations that may affect the health and quality of the embryo. In some cases, compositions and methods of this disclosure may provide information useful in the selection and monitoring of embryos for implantation into a female.

This invention features methods of identifying genetic alterations that can modulate cancer cells' sensitivity to an anti-cancer drug. Information on such genetic alterations can be used to predict cancer therapeutic outcomes and to stratify patient populations to maximize therapeutic efficacy.

The present invention provides methods, compositions and kits for the characterization of cellular pathways in cells containing genetic alterations.

This invention provides a genetically tractable in situ non-human animal model for hepatocellular carcinoma. The model is useful, inter alia, in understanding the molecular mechanisms of liver cancer, in understanding the genetic alterations (e.g., in oncogenes and tumor suppressor genes) that lead to chemoresistance or poor prognosis, and in identifying and evaluating new therapies against hepatocellular carcinomas. The liver cancer model of this invention is made by altering hepatocytes to increase oncogene expression, to reduce tumor suppressor gene expression or both, preferably by inducible, reversible, and/or tissue specific expression of double-stranded RNA molecules that interfere with the expression of a target gene, and by transplanting the resulting hepatocytes into a recipient non-human animal. The invention further provides a method to treat cancer involving cooperative interactions between a tumor cell senescence program and the innate immune system.

In one aspect, provided herein is a method comprising: (a) (i) determining cytolytic activity in a tumor from the subject; and/or (ii) determining genetic alterations associated with cytolytic activity in the tumor; and (b) administering an immunotherapeutic agent to the subject if (i) cytolytic activity is detected in the tumor and/or (ii) a genetic alteration associated with induction of cytolytic activity, tumor resistance to cytolytic activity and/or suppression of cytolytic activity is detected in the tumor.

Compositions and methods for the detection and treatment of autism and autistic spectrum disorder are provided.

The invention provides tissue culture system for primary cells (e.g. normal mammalian primary epithelial progenitors). This system includes: a) a serum-free, chemically defined cell culture media; and, b) methods for isolation and in vitro long-term propagation of primary cells (e.g. primary epithelial cells). Primary cells so isolated and cultured can be kept undifferentiated and proliferate for many weeks (>15 weeks) or population doubling (>35 PD) without senescence, or any detectable genetic alterations. Upon changing media/culture conditions, these cells can be induced to differentiate.

The invention also provides methods to transform normal primary cells so cultured into “cancer stem cells.” The genetically defined cancer stem cell tumor model mimics the behavior of the disease closely, e.g., the cells are invasive, hormone responsive and metastatic when injected into mice. The tumor cells express genes that are specific to cancer stem cells identified in patient samples.

A method to detect a biomarker in saliva wherein the biomarker is an extracellular mRNA, comprises detecting the extracellular mRNA in the cell-free saliva; transcriptome analysis of saliva comprises detecting a transcriptome pattern in the cell-free saliva; a method to detect genetic alterations in an organ or in a gene in the organ by analyzing saliva, comprises detecting a transcriptome pattern and/or the mRNA profiling of the gene in cell-free saliva; a method to diagnose an oral or systemic pathology disease or disorder in a subject, comprises: detecting profile of a biomarker associated with the pathology disease or disorder, in particular mRNA and/or protein, in cell-free saliva and/or serum; kits comprising identifier for at least one biomarker for performing at least one of the methods; and use of salivary biomarker salivary and/or serum mRNAs as biomarkers for oral and/or systemic pathology, disease or disorder.

Genome-wide analysis of copy number changes in breast and colorectal tumors used approaches that can reliably detect homozygous deletions and amplifications. The number of genes altered by major copy number changes—deletion of all copies or amplification of at least twelve copies per cell—averaged thirteen per tumor. These data were integrated with previous mutation analyses of the Reference Sequence genes in these same tumor types to identify genes and cellular pathways affected by both copy number changes and point alterations. Pathways enriched for genetic alterations include those controlling cell adhesion, intracellular signaling, DNA topological change, and cell cycle control. These analyses provide an integrated view of copy number and sequencing alterations on a genome-wide scale and identify genes and pathways that are useful for cancer diagnosis and therapy.

The present invention relates to a method for increasing the stability of endogenous proteins recovered from plant cells or plants. The preservation of endogenous proteins integrity of endogenous protein occurs by neutralizing proteolysis in crude extracts, particularly by the use of genetic alteration of plant cells or plants that express recombinant protease inhibitors or altered activity of specific target proteases.

The invention relates to application of a fluorescent in-situ hybridization polyclonal separating probe for renal carcinoma and a kit thereof. Clonal fragments used by the polyclonal separating probe provided by the invention are respectively a combination of RP11-416B14, CTD-2522M13 and CTD-2516D6, and a combination of CTD-2312C1, CTD-2248C21 and RP11-959H17. According to the invention, the defect that karyotype analysis can not be performed conventionally after tumor cells are subjected to cell culture until a mitotic phase in the prior art is overcome. The typical gene modification in Xp11.2 translocation/TFE3 gene fusion related renal carcinoma is detected by using the FISH technology, thereby diagnosing the tumor. The fluorescent in-situ hybridization polyclonal separating probe application is high in accuracy, high in specificity, high in success rate, strong in fluorescent signals and convenient to operate. The invention can be applied in paraffin sections, widens the scope of detection specimens, and greatly optimizes the diagnosis method of Xp11.2 translocation/TFE3 gene fusion related renal carcinoma.

An improved method of nuclear transfer employing long-term cultured somatic cells as the donor cells and enucleated oocytes as the recipient cells to produce dividing cybrids. Such cybrids are useful for developing viable animals clones when nurtured in a suitable host environment.