Abstract: The present invention is directed to the isolation and identification of the nucleic acid sequence encoding C-proteinase, the recognition of such protein's activity and applications, and tools, processes, and methods of use thereof.

Abstract: The invention relates to peptides and peptidomimetics which inhibit assembly of human type I collagen. Methods of identifying such peptides and peptidomimetics are also included in the invention.

Abstract: Methods of treating patients who are suffering from a disease, disorder or condition characterized by a bone cartilage or lung defect are disclosed. The methods comprising the step of intravenous administration of stromal cells isolated from normal syngeneic individuals or intravenous administration of stromal cells isolated from the patient subsequent to correction of the genetic defect in the isolated cells. Implant devices comprising a container that has at least one membrane surface and stromal cells isolated from bone marrow that comprise a gene construct are disclosed. The gene construct in the stromal cells comprises a nucleotide sequence that encodes a beneficial protein operably linked to regulatory elements which function in stromal cells. Methods of treating individuals with diseases, disorders or conditions which can be treated with a beneficial protein, including diseases, disorders or conditions characterized by gene defects are disclosed.

Abstract: The present invention embodies a method of transducing marrow stromal cells with retroviral vectors comprising the TH and GC enzyme precursors of L-DOPA. The invention also describes a method of producing exogenous L-DOPA using this transduction method. Novel retroviral vectors comprising TH and GC, with an intervening IRES are also described.

Abstract: Methods of treating a human patient having a disease, disorder or condition of the central nervous system are disclosed. The methods include obtaining a bone marrow sample from a human donor, isolating stromal cells from the bone marrow sample, and administering the isolated stromal cells to the central nervous system of the human patient, wherein the presence of the isolated stromal cells in the brain effects treatment of the disease, disorder or condition. Stromal cells which are isolated may be cultured in vitro, they may be genetically engineered to produce therapeutic compounds, and/or they may be pre-differentiated prior to administration into the central nervous system.

Abstract: The invention relates to methods for inducing marrow stromal cells to differentiate into neural cells by way of increasing intracellular levels of cyclic AMP. The invention also encompasses methods of producing a neural cell by causing a marrow stromal cell to differentiate into a neural cell by increasing intracellular levels of cyclic AMP. Methods for treating a human patient in need of neural cells are also disclosed, as well as methods for treating a human patient having a disease, condition, or disorder of the central nervous system.

Abstract: Marrow stromal cells (MSCS) are adult stem cells from bone marrow that can differentiate into multiple non-hematopoietic cell lineages. Colonies of human MSCs were shown to contain both small, rapidly self-renewing stem cells (RS cells) and large, more mature cells (mMSCs). Samples enriched for RS cells had a greater potential for multipotential differentiation than samples enriched for mMSCs. Also, RS cells have a series of surface epitopes and expressed proteins that can be used to differentiate RS cells from mMSCs. The results suggest that it will be important to distinguish the two major sub-populations of MSCs in defining their biology and their potentials for cell and gene therapy.

Abstract: The invention relates to peptides and peptidomimetics which inhibit assembly of human type I collagen. Methods of identifying such peptides and peptidomimetics are also included in the invention.

Abstract: The present invention relates to novel polynucleotide sequences encoding human N-proteinase, and the polypeptides encoded by such polynucleotide sequences. The present invention further relates to methods for using the polynucleotides encoding human N-proteinase to produce the protein.

Abstract: The invention is transfected cells, substantially all of which contain at least one human collagen gene and express fibrillar collagen molecules derived using methods for synthesizing collagen and collagen fibrils in said cell lines, and methods for treatment of disorders in humans using said collagen derived from said stable cell lines.

Abstract: The invention relates to the use of marrow stromal cells to enhance hematopoiesis in a mammal.

Abstract: The present invention is directed to the isolation and identification of the nucleic acid sequence encoding C-proteinase, the recognition of such protein's activity and applications, and tools, processes, and methods of use thereof.

Abstract: Compositions and methods useful for determining whether a subject has an alteration in a gene encoding a protein chain of Type I or Type IX collagen are described. Novel intronic sequences of five human genes, COL1A1, COL1A2, COL9A1, COL9A2, and COL9A3 are described. Methods of determining the existence in a subject of a pathological condition associated with an altered gene encoding a Type I or Type IX collagen protein chain are provided, wherein such pathological conditions include diseases and disorders which are known to be associated with an altered gene encoding a Type I or Type IX collagen protein chain. Primers, probes, and methods of detecting a genetic predisposition of a subject for a pathological condition associated with an altered gene encoding a Type I or Type IX collagen protein chain are provided.

Abstract: The present invention is directed to the isolation and identification of the nucleic acid sequence encoding C-proteinase, the recognition of such protein's activity and applications, and tools, processes, and methods of use thereof.

Abstract: The present invention is directed to the isolation and identification of the nucleic acid sequence encoding C-proteinase, the recognition of such protein's activity and applications, and tools, processes, and methods of use thereof.

Abstract: The invention provides probes and primers for amplifying certain regions of genes for structural proteins of cartilage and methods for detecting mutations in these genes isolated from the nucleic acid of cells suspected of exhibiting mutant structural protein gene expression or having mutant structural protein genes. The invention also provides methods for determining a genetic predisposition for a disease that alters the structure or function of cartilage because of a mutation in a gene for a structural protein of cartilage in a mammal.

Abstract: Simple methods of detecting single base pair mutations and other mutations in nucleic acid sequences are provided comprising generating a sample which may comprise heteroduplexes and homoduplexes and performing gel electrophoresis on the sample. The sample may be analyzed for one or more isolated high-melting domains prior to performance of gel electrophoresis. Kits are also provided.

Abstract: Methods are provided for controlling the synthesis of protein from the human gene for the pro.alpha.1(I) chain of type I procollagen in cells using mini-gene constructs which are injected into cells which synthesize the protein. Methods for controlling collagen deposition in tissue mini-gene constructs are also provided.

Abstract: Methods of treating patients who are suffering from a disease, disorder or condition characterized by a bone cartilage or lung defect are disclosed. The methods comprising the step of intravenous administration of stromal cells isolated from normal syngeneic individuals or intravenous administration of stromal cells isolated from the patient subsequent to correction if the genetic defect in the isolated cells. Methods of introducing genes into a recipient individual are disclosed. The methods comprise the steps of obtaining a bone marrow sample from either the recipient individual or a matched syngeneic donor, isolating adherent cells from the sample, transfecting the adherent cells that were isolated from the recipient or a matched syngeneic donor with a gene and administering the transfected adherent cells to the recipient individual intravenously. Compositions that comprise isolated stromal cells that include exogenous genes operably linked to regulatory sequences are disclosed.

Abstract: The invention is transgenic mice substantially all of whose cells contain a mutated human collagen gene. Methods for testing therapies for the treatment of osteogenesis imperfecta, osteoporosis, and chondrodysplasia are provided.