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53 results about "OI - Osteogenesis imperfecta" patented technology

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily.

Pathogenic mutation of osteogenesis imperfecta disease and detection reagent of pathogenic mutation

ActiveCN109897894ASignificant genetic heterogeneityBirth preventionMicrobiological testing/measurementGenetic engineeringCol1a1 geneAmino acid change
The invention discloses a pathogenic mutation of osteogenesis imperfecta and a detection reagent of the pathogenic mutation. According to a novel mutant COL1A1 gene, the mutated COL1A1 gene is a single point mutation c.1822G>A (chr17:48270211), a heterozygous mutation is pathogenic and in a mode of dominant heredity, the amino acid change is p.Gly608Ser, dyssynthesis of I-type collagen in connective tissue is caused by locus mutation of the p.Gly608Ser, and a lesion is formed. A kit for detection of osteogenesis imperfecta includes a reagent for detection of the 1822bpth locus of a COL1A1 geneCDS or a reagent for detection of the 608th amino acid locus of a COL1A1 protein. The pathogenic mutation (c.1822G>A on the COL1A1 gene) of the osteogenesis imperfecta disease is obtained, and the osteogenesis imperfecta disease can be diagnosed by detecting the mutation.
Owner:黄欢

Methods and Pharmaceutical Compositions for the Treatment of Bone Density Related Diseases

InactiveUS20130195863A1Decreased bone mineral densityIncreasing bone mineral densityOrganic active ingredientsPeptide/protein ingredientsGhosal hematodiaphyseal dysplasiaBone density
The invention relates to methods and pharmaceutical compositions for the treatment of bone density related diseases. More particularly, the present invention relates to a ROBO1 modulator for use in a method for the treatment of a bone mineral density related disease in a subject. In a particular embodiment the ROBO1 modulator is selected from the group consisting of small organic molecules, antibodies, aptamers or polypeptides. In another particular embodiment said bone mineral density related disease is selected from the group consisting of ghosal hematodiaphyseal dysplasia syndrome (GHDD), osteoporosis, osteoporosis associated to pseudoglioma, osteoporosis and oculocutaneous hypopigmentation syndrome, osteoporosis due to endocrinological dysfunction, osteogenesis imperfecta osteopenia, Paget's disease, osteomyelitis, hypercalcemia, osteonecrosis, hyperparathyroidism, lytic bone metastases, periodontitis, bone loss due to immobilization and osteoporosis associated with a disease selected from the group consisting of cachexia, anorexia, alopecia, rheumatoid arthritis, psoriatic arthritis, psoriasis, and inflammatory bowel disease.
Owner:INST NAT DE LA SANTE & DE LA RECHERCHE MEDICALE (INSERM)

Method to Enhance the Bone Formation Activity of Bmp by Runx2 Acetylation

InactiveUS20080219962A1Prevention and the treatmentPromotes bone formationHydrolasesDigestive systemDiseaseProtein target
The present invention relates to a method to enhance the activity of Runx2, a major target protein of Bone Mophogenetic Protein (BMP), by Runx2 acetylation, more precisely, a method to activate BMP-mediated bone formation pathway by protecting Runx2 from ubiquitination, indicating that Runx2 is protected from degradation by the increase of Runx2 acetylation making the protein more stable. The method to enhance Runx2 activity of the present invention can be utilized for the prevention and the treatment of bone disease such as osteoporosis, osteogenesis imperfecta, periodontal disease and fracture, by inducing bone formation by inhibiting Runx2 degradation.
Owner:BIORUNX

Mutation site of XI-type osteogenesis imperfecta pathogenic gene FKBP10 and application of mutation site

The invention relates to a mutation site of an XI-type osteogenesis imperfecta pathogenic gene FKBP10 and application of the mutation site. A whole genome resequencing technology is combined with comprehensive technologies of digital PCR, Sanger sequencing and the like; whole genome resequencing is carried out for clinic suspected osteogenesis imperfect patients; the condition that copy number variation exists between an exon 2 to an exon 4 of the FKBP10 gene and meanwhile, a heterozygous shear site mutation that c.918-3C is greater than G is discovered by combining with bioinformatics. Copy number variation and heterozygous shear mutation between the exon 2 to the exon 4 of the FKBP10 gene are further validated through digital PCR and a traditional PCB-based Sanger sequencing technology separately. Through discovery of the copy number variation and the heterozygous shear mutation, basis and reference are provided for discussing pathogenesis of XI-type osteogenesis imperfect and enriching and developing a diagnosis method for clinical diagnosis and treatment, and a basic basis is provided for early pathogenic gene screening and treatment.
Owner:SHANDONG FIRST MEDICAL UNIV & SHANDONG ACADEMY OF MEDICAL SCI

Bone augmentation utilizing muscle-derived progenitor compositions in biocompatible matrix, and treatments thereof

The present invention provides muscle-derived progenitor cells that show long-term survival following transplantation into body tissues and which can augment non-soft tissue following introduction (e.g. via injection, transplantation, or implantation) into a site of non-soft tissue (e.g. bone) when combined with a biocompatible matrix, preferably SIS. The invention further provides methods of using compositions comprising muscle-derived progenitor cells with a biocompatible matrix for the augmentation and bulking of mammalian, including human, bone tissues in the treatment of various functional conditions, including osteoporosis, Paget's Disease, osteogenesis imperfecta, bone fracture, osteomalacia, decrease in bone trabecular strength, decrease in bone cortical strength and decrease in bone density with old age.
Owner:COOK MYOSITE +1

Telescopic nail

An intramedullary nail for surgical use with pediatric patients aged 18 months and older who are diagnosed with Osteogenesis Imperfecta. The intramedullary nail is used to correct deformity, stabilize fractures, and to prevent fractures. The intramedullary nail includes male components that can be nested with a straight formed female component. The angled female component has a telescopic structure that grows together with the child's bone without hindering growth. The intramedullary nail also includes at least one telescopic nail with a corkscrew tip that provides minimal damage.
Owner:TST RAKOR & TIBBI ALETLER SANAYI & TICARET LIMIT

DNA library for detecting and diagnosing pathogenic genes of skeletal development disorders and application thereof

The invention relates to a DNA library for detecting and diagnosing pathogenic genes of skeletal development disorders through a targeted high-throughput sequencing technology and application thereof. The library comprises 507 pathogenic genes of skeletal development disorders. According to the invention, 507 pathogenic genes of skeletal development disorders are preferably selected, a probe pool is designed, a target region library for 507 pathogenic genes of skeletal development disorders is established, and the library utilizes the high-throughput sequencing technology for sequencing to find pathogenic mutations, thereby providing genetic and molecular biological bases for clinical diagnosis. The DNA library provided by the invention has the characteristics of accuracy, rapidness, flexibility and low cost. The 507 genes involved in the invention include pathogenic genes of genetic diseases with skeletal development disorders as clinical manifestations, such as collagen dysplasia, metaphysic dysplasia, osteogenesis imperfecta and bone density reduction, mucopolysaccharide storage disease, cartilage dysplasia and the like, and have important significance and clinical value for diagnosis, differential diagnosis and accurate treatment of skeletal development disorders.
Owner:SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG FIRST MEDICAL UNIVERSITY

Application of tadins inhibiting formation of osteoclast

A method for inhibiting the formation of osteoclasts comprising administering a therapeutically effective amount of a statin to a mammal in need thereof as well as pharmaceutical compositions, kits for containing such compositions comprising a statin or a method of treating or preventing a disease state selected from the group consisting of osteoporosis, Paget's disease, osteolysis, hypercalcemia of malignancy, osteogenesis imperfecta, osteoarthritis, alveolar bone loss, side effects of immunosuppressive therapy, and side effects of chronic glucocorticoid use by inhibiting the formation of osteoclasts comprising administering a therapeutically effective amount of a statin to a mammal in need thereof.
Owner:WARNER-LAMBERT CO

Method for promoting osteoblast differentiation by using Runx2 and Osterix and application thereof

The invention relates to a method for co-expression of Runx2 and Osterix in mesenchymal stem cells or other non-osteoblasts by a special mode that the expression level of Runx2 is less than the expression level of Osterix, thus speeding up the induction of osteoblast differentiation. The invention provides a pharmaceutical composition for prevention or treatment of osteoblast differentiation related diseases. The pharmaceutical composition contains Runx2 protein and Osterix protein, wherein the Runx2 protein content is smaller than the Osterix protein content. The invention also provides application of the Runx2 protein and the Osterix protein in preparation of the pharmaceutical composition for prevention or treatment of osteoblast differentiation related diseases, and in the pharmaceutical composition, the content of the Runx2 protein is less than that of the Osterix protein. The pharmaceutical composition and the special co-expression mode of Runx2 and Osterix provided in the invention can be used for treatment of osteoporosis, osteogenesis imperfecta, periodontal diseases, fractures and other bone diseases, and also can be used for research, development and production of tissue-engineered bones. The invention also provides a method for screening drugs preventing and treating bone diseases.
Owner:NORTHEAST NORMAL UNIVERSITY

SUBSTITUTED THIAZOLIDINEDIONE INDAZOLES, INDOLES AND BENZOTRIAZOLES AS ESTROGEN-RELATED RECEPTOR-a MODULATORS

ActiveUS20110294780A1BiocideOrganic chemistryAntiestrogen resistanceSacroiliitis
The present invention relates to compounds of Formula (I),methods for preparing these compounds, compositions, intermediates and derivatives thereof and for treating a condition including but not limited to ankylosing spondylitis, artherosclerosis, arthritis (such as rheumatoid arthritis, infectious arthritis, childhood arthritis, psoriatic arthritis, reactive arthritis), bone-related diseases (including those related to bone formation), breast cancer (including those unresponsive to anti-estrogen therapy), cardiovascular disorders, cartilage-related disease (such as cartilage injury / loss, cartilage degeneration, and those related to cartilage formation), chondrodysplasia, chondrosarcoma, chronic back injury, chronic bronchitis, chronic inflammatory airway disease, chronic obstructive pulmonary disease, diabetes, disorders of energy homeostasis, gout, pseudogout, lipid disorders, metabolic syndrome, multiple myeloma, obesity, osteoarthritis, osteogenesis imperfecta, osteolytic bone metastasis, osteomalacia, osteoporosis, Paget's disease, periodontal disease, polymyalgia rheumatica, Reiter's syndrome, repetitive stress injury, hyperglycemia, elevated blood glucose level, and insulin resistance.
Owner:JANSSEN PHARMA NV

Primer composition and primers of osteogenesis imperfecta virulence gene COL1A1 and application thereof

The invention relates a detection kit, in particular to a primer composition and probes of an osteogenesis imperfecta virulence gene COL1A1 and application thereof, and belongs to the technical fieldof medical detection. According to the primer composition and primers of the osteogenesis imperfecta virulence gene COL1A1, the upstream primer COL1A1-F has the nucleotide sequence shown in SEQ ID No.1, the downstream primer COL1A1-R has the nucleotide sequence shown in SEQ ID No.2, the COL1A1 gene rs72656353 probe has the nucleotide sequence shown in SEQ ID No.3, and the internal reference probehas the nucleotide sequence shown in SEQ ID No.3.
Owner:苏州恩科金生物科技有限公司 +1

Bone augmentation utilizing muscle-derived progenitor compositions, and treatments thereof

The present invention provides muscle-derived progenitor cells that show long-term survival following transplantation into body tissues and which can augment non-soft tissue following introduction (e.g. via injection, transplantation, or implantation) into a site of non-soft tissue (e.g. bone). Also provided are methods of isolating muscle-derived progenitor cells, and methods of genetically modifying the cells for gene transfer therapy. The invention further provides methods of using compositions comprising muscle-derived progenitor cells for the augmentation and bulking of mammalian, including human, bone tissues in the treatment of various functional conditions, including osteoporosis, Paget's Disease, osteogenesis imperfecta, bone fracture, osteomalacia, decrease in bone trabecular strength, decrease in bone cortical strength and decrease in bone density with old age.
Owner:UNIVERSITY OF PITTSBURGH

Computer intelligent diagnosis system for osteogenesis imperfecta

The invention discloses a computer intelligent diagnosis system for hereditary bone diseases, namely osteogenesis imperfecta, which cause repeated fracture and severe harm. According to early researchon clinical phenotype and pathogenic gene mutation of a large sample patient, the computer intelligent diagnosis system comprising a data acquisition module, a feature extraction module, a data processing and diagnosis module and a data output module is established; the data acquisition module comprises a medical record information unit, a medical image information unit and an experimental examination information unit; and the feature extraction module comprises a text extraction unit, an image extraction unit and a gene extraction unit. The invention also discloses a construction method of the osteogenesis imperfecta risk assessment model and the osteogenesis imperfecta risk assessment model, and the computer intelligent diagnosis system is helpful for improving the diagnosis level of diseases and promoting the early effective prevention and treatment of the diseases.
Owner:PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI

Shell nacre matrix protein, preparation method and use thereof

The invention relates to shell nacre matrix protein, a preparation method and use thereof. The method comprises the following steps: 1) pulverizing a shell nacre into powder, wherein the powder havinga diameter of less than 100 [mu]m; 2) dissolving the shell nacre powder in a calcium ion chelating agent solution; 3) removing the insoluble matters of the calcium ion chelating agent solution; 4) concentrating the shell nacre powder solution and performing dialysis to remove small molecular impurities, wherein a dialysate is water; and 5) concentrating a dialysis retention solution and drying the material to obtain the nacre matrix protein. The invention also discloses use of the nacre matrix protein for preparation of a medicine for treating or preventing bone metabolic disease. Further, the bone metabolic diseases are osteoporosis, Paget, osteogenesis imperfecta, bone fiber dysplasia, hypophosphatasia, humoral hypercalcemia of malignancy, and multiple myeloma induced osteolysis.
Owner:SHENZHEN INST OF ADVANCED TECH

Substituted phenoxy aminothiazolones as estrogen related receptor-alpha modulators

The present invention relates to compounds of formula (I), methods for preparing these compounds, compositions, intermediates and derivatives thereof and for treating a condition including but not limited to ankylosing spondylitis, artherosclerosis, arthritis (such as rheumatoid arthritis, infectious arthritis, childhood arthritis, psoriatic arthritis, reactive arthritis), bone-related diseases (including those related to bone formation), breast cancer (including those unresponsive to anti-estrogen therapy), cardiovascular disorders, cartilage-related disease (such as cartilage injury / loss, cartilage degeneration, and those related to cartilage formation), chondrodysplasia, chondrosarcoma, chronic back injury, chronic bronchitis, chronic inflammatory airway disease, chronic obstructive pulmonary disease, diabetes, disorders of energy homeostasis, gout, pseudogout, lipid disorders, metabolic syndrome, multiple myeloma, obesity, osteoarthritis, osteogenesis imperfecta, osteolytic bone metastasis, osteomalacia, osteoporosis, Paget's disease, periodontal disease, polymyalgia rheumatica, Reiter's syndrome, repetitive stress injury, hyperglycemia, elevated blood glucose level, and insulin resistance.
Owner:JANSSEN PHARMA NV
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