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54 results about "Hemochromatosis" patented technology

A condition of excess iron in the body.

Neuroprotective iron chelators and pharmaceutical compositions comprising them

Novel iron chelators exhibiting neuroprotective and good transport properties are useful in iron chelation therapy for treatment of a disease, disorder or condition associated with iron overload and oxidative stress, eg. a neurodegenerative or cerebrovascular disease or disorder, a neoplastic disease, hemochromatosis, thalassemia, a cardiovascular disease, diabetes, a inflammatory disorder, anthracycline cardiotoxicity, a viral infection, a protozoal infection, a yeast infection, retarding ageing, and prevention and / or treatment of skin ageing and skin protection against sunlight and / or UV light. The iron chelator function is provided by a 8-hydroxyquinoline, a hydroxypyridinone or a hydroxamate moiety, the neuroprotective function is imparted to the compound e.g. by a neuroprotective peptide, and a combined antiapoptotic and neuroprotective function by a propargyl group.
Owner:TECHNION RES & DEV FOUND LTD +1

Primer composition, kit and method for detecting susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration

The invention discloses a primer composition, a kit and a method for detecting susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration. The invention firstly discloses the primer composition for detecting the susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration. The invention further discloses the kit containing the primer composition and themethod for detecting the susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration. The method for detecting the susceptibility gene mutation of hemochromatosis and hepatolenticular degeneration integrates gene mutation and copy number mutation information of all exon and intron cleavage regions of susceptibility genes of hemochromatosis and hepatolenticular degeneration inChinese population, and has the advantages of high detection flux, high specificity and sensitivity, 100% of sequencing coverage, more than 30x of depth, clear and objective gene detection result interpretation, good accuracy and repeatability, low cost, simple operation and easy popularization; and the method can not only detect known high-incidence mutation, but also discover new mutation sites.
Owner:BEIJING FRIENDSHIP HOSPITAL CAPITAL MEDICAL UNIV

Genetic method of identifying hemochromatosis

The present invention provides a substantially purified carbohydrate ligand that specifically binds to a leczyme. The invention also provides methods to identify a carbohydrate ligand that specifically binds to a leczyme or a leczyme that specifically binds to a carbohydrate ligand. The invention further provides methods to identify a peptide that binds to the carbohydrate ligand binding site of a leczyme. The present invention provides methods to isolate a carbohydrate ligand or a leczyme and to identify a carbohydrate ligand or a leczyme that modifies the function of a cell and to obtain such functionally modified cells. The invention further provides methods to modify a cell to express a carbohydrate ligand by introducing an expression vector encoding a leczyme into the cell. The invention also provides methods to modulate the immune response to an antigen by administering the antigen and a carbohydrate ligand. In addition, the invention further provides methods to treat a disease state involving a leczyme by administering a carbohydrate ligand that binds the leczyme or by administering a leczyme that has a similar binding specificity to the leczyme involved in the disease state. The invention further provides methods to diagnose a genetic basis for hemochromatosis by detecting a mutation in a class I MHC molecule that reduces it's ability to associate with beta2 microglobulin.
Owner:ROTHENBERG BARRY E

Products and compositions

The present invention relates to products and compositions and their uses. In particular the invention relates to nucleic acid products that interfere with the TMPRSS6 gene expression or inhibits its expression and therapeutic uses such as for the treatment of hemochromatosis, porphyria and blood disorders such as β-thalassemias, sickle cell disease and transfusional iron overload or myelodysplastic syndrome.
Owner:SILENCE THERAPEUTIC AG
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