9 results about "Deficiency disease" patented technology

The invention discloses a primer group, a chip, a kit and a method for detecting mutation of a virulence gene SLC25A13 of Hilteline deficiency. The primer group comprises a primer group 1 and / or a primer group 2. According to the method for detecting mutation IVS16ins3kb and IVS4ins6kb of the Hilteline deficiency disease-causing gene SLC25A13, provided by one embodiment of the invention, two insertion variation types IVS16ins3kb and IVS4ins6kb of the SLC25A13 gene can be detected at the same time through one-time multiple LA-PCR reaction, and the method has the characteristics of short time consumption, low cost and high specificity; and the method is suitable for conventional clinical verification work and is easy to popularize.

The invention relates to a method for separating melanocytes from human hair follicles in vitro and application. The method comprises the following steps: 1) separating hair follicle front end tissues from hair follicle tissues obtained from an in-vitro human hair sample; (2) treating the hair follicle front-end tissue obtained in the step (1) by using digestive enzyme; and (3) culturing the hair follicle front-end tissue treated in the step (2) by adopting a melanocyte culture medium. The invention also provides application of the melanocytes from human hair follicles in preparation of products for melanin deficiency diseases, poliosis and the like, and provides data support in the aspects of skin physiology, pathology, pharmacology, pharmacotoxicology, tissue engineering, gene therapy and the like. According to the method, primary separation of the melanocytes is carried out by taking the hair follicle tissue as a source, the purity of the cells is effectively improved through pretreatment, the operation difficulty of obtaining the pure melanocytes through separation is reduced, and more feasibility is provided for preparing products for melanin deficiency diseases, poliosis and the like.

The application belongs to the field of biomedical science and neurology, and particularly relates to application of CHCHD2 gene and a protein coded by the CHCHD2 gene in preparation of a product for promoting proliferation and differentiation of neural stem cells. The application proves that the CHCHD2 gene and the protein coded by the CHCHD2 gene are highly expressed in in-vivo neural development and in-vitro neural differentiation process; and that knocking down or over-expressing the CHCHD2 gene or the protein coded by the CHCHD2 gene has a certain regulating effect on proliferation and differentiation of neural stem cells. The application provides a new scheme for preparation of a product for promoting proliferation and differentiation of neural stem cells, and provides a new target for drug research and development of neural regeneration and repair treatment of central nervous system development deficiency diseases, neurodegenerative diseases, cerebrovascular diseases, craniocerebral and spinal cord injuries.

The application relates to the field of tissue engineering and regenerative medicine, and particularly discloses a cell-extracellular matrix complex for hair follicle regeneration and a preparation method thereof. The complex comprises autologous hair follicle stem cells, a human scalp-derived acellular ECM scaffold, time-sequentially added growth factors and an anti-scarring component. In preparation, the autologous hair follicle stem cells are first induced by BMP4 and TGF-beta 1 in cooperation, then inoculated into the human scalp-derived acellular ECM scaffold, and the complex is constructed under dynamic culture conditions, and VEGF is added to promote vascularization. The complex can efficiently form a structure-intact hair papilla-like tissue, has good biocompatibility, low immunogenicity and anti-scarring characteristics, and is significantly superior to a traditional collagen scaffold system. The application provides a new regeneration treatment strategy with clear clinical transformation prospects for scaleable preparation for androgenetic alopecia and other hair follicle deficiency diseases.

The present application belongs to the field of medicine, and particularly relates to a novel compound for treating multiple sclerosis. Specifically, the present application provides a compound as shown in formula (I) or a pharmaceutically acceptable salt thereof, or a pharmaceutical composition comprising the same, wherein the compound or the salt or the pharmaceutical composition comprising the same has the biological activity of inhibiting CD4 + The biological activity of T cells differentiating into Th17 cells can be used for preventing and / or treating autoimmune deficiency diseases related to Th17 cells, for example, multiple sclerosis (MS). The compound of the present application is novel in structure, excellent in biological activity, and can be used as an ideal candidate drug compound for treating MS.

The present invention provides an ionizable polymer comprising a constitutional unit according to formula (I). wherein R1 and R2 are as defined in the specification. The ionizable polymer of the invention finds use in the intracellular delivery of polynucleotides in vitro and in vivo. The present invention also provides compositions comprising the ionizable polymer of the invention and a polynucleotide. The compositions disclosed herein find utility as medicaments, in particular as medicaments for the prevention or treatment of an infectious disease, a cancer, or a protein-deficiency disease.

The present application belongs to the field of medicine, and particularly relates to a novel compound for treating multiple sclerosis. Specifically, the present application provides a compound as shown in formula (I) or a pharmaceutically acceptable salt thereof, or a pharmaceutical composition comprising the same, wherein the compound or the salt or the pharmaceutical composition comprising the same has the biological activity of inhibiting CD4 + The biological activity of T cells differentiating into Th17 cells can be used for preventing and / or treating autoimmune deficiency diseases related to Th17 cells, for example, multiple sclerosis (MS). The compound of the present application is novel in structure, excellent in biological activity, and can be used as an ideal candidate drug compound for treating MS.

This invention belongs to the pharmaceutical field, specifically relating to novel compounds that inhibit Th17 cell differentiation and their applications. Specifically, this invention provides various novel compounds, their tautomers, stereoisomers, isotope markers, hydrates, solvates, pharmaceutically acceptable salts, or prodrugs, which possess biological activity in inhibiting the differentiation of CD4+ T cells into Th17 cells and can be used for the prevention and / or treatment of Th17 cell-related autoimmune deficiency diseases (especially multiple sclerosis). The various compounds of this invention have novel structures and excellent biological activity, making them ideal candidate drug compounds for the treatment of MS.

The invention belongs to the technical field of genes, and particularly relates to application of an SERPINC1 mutant in antithrombin deficiency screening. The invention provides application of a detection reagent in preparation of an antithrombin deficiency disease screening reagent. Wherein the detection reagent can be used for detecting the SERPINC1c.506Cgt, and the SERPINC1c.506Cgt can be used for The gene is mutated in T, and is SERPINC1c.506Cgt; compared with a wild type SERPINC1 with the sequence of SEQ ID NO.1, the 506th basic group of the T mutation is mutated from C to T. The present disclosure broadens the recognition of against thrombin deficiency diseases; a new diagnosis mode is provided for antithrombin deficiency, a new way is also provided for prevention and treatment of the antithrombin deficiency, and the possibility of treating the antithrombin deficiency based on induced pluripotent stem cell (iPSC)-mediated genes is discussed.