Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene.

No abstract is available for this paper.

• Publication year

  1988

• Venue

  Nature

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 2450280
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Rescue of type I collagen-deficient phenotype by retroviral-vector-mediated transfer of human pro alpha 1(I) collagen gene into Mov-13 cells

  1987cited by this paper
• Functional inactivation of genes by dominant negative mutations

  1987cited by this paper
• Introduction of the human pro alpha 1(I) collagen gene into pro alpha 1(I)-deficient Mov-13 mouse cells leads to formation of functional mouse-human hybrid type I collagen.

  1987cited by this paper
• Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

  1986cited by this paper
• Collagen defects in lethal perinatal osteogenesis imperfecta.

  1986cited by this paper
• Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

  1985cited by this paper
• Collagen genes and inherited connective tissue disease.

  1985cited by this paper
• Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.

  1985cited by this paper
• Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.

  1984cited by this paper
• Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.

  1984cited by this paper
• Collagen composition of normal and myxomatous human mitral heart valves.

  1984cited by this paper
• Heritable diseases of collagen.

  1984cited by this paper
• Analysis of differences between coomassie blue stain and silver stain procedures in polyacrylamide gels: conditions for the detection of calmodulin and troponin C.

  1983cited by this paper
• Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta

  1983cited by this paper
• Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene.

  1983cited by this paper
• Infectivity and structure of molecular clones obtained from two genetically transmitted Moloney leukemia proviral genomes.

  1982cited by this paper
• A new dominant hybrid selective marker for higher eukaryotic cells.

  1981cited by this paper
• Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.

  1981cited by this paper
• Disorder of collagen metabolism in a patient with osteogenesis imperfecta (lethal type): increased degree of hydroxylation of lysine in collagen types I and III

  1981cited by this paper
• Further studies on the effect of the collagen triple-helix formation on the hydroxylation of lysine and the glycosylations of hydroxylysine in chick-embryo tendon and cartilage cells.

  1977cited by this paper
• Sizing and mapping of early adenovirus mRNAs by gel electrophoresis of S1 endonuclease-digested hybrids.

  1977cited by this paper
• Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen.

  1977cited by this paper
• The cyanogen bromide peptides of bovine soluble and insoluble collagens. I. Characterization of peptides from soluble type I collagen by sodium dodecylsulphate polyacrylamide gel electrophoresis.

  1976cited by this paper
• The estimation of two collagens from human dermis by interrupted gel electrophoresis.

  1976cited by this paper
• Effect of L-azetidine-2-carboxylic acid on glycosylations of collagen in chick-embryo tendon cells.

  1976cited by this paper
• A new technique for the assay of infectivity of human adenovirus 5 DNA.

  1973cited by this paper

• Characterization of a Novel Col1a1G643S/+ Osteogenesis Imperfecta Mouse Model with Insights into Skeletal Phenotype, Fragility, and Therapeutic Evaluations

  2025cites this paper
• A two-step dance commits collagen to folding

  2024cites this paper
• Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology

  2022cites this paper
• An Update on Animal Models of Osteogenesis Imperfecta

  2022cites this paper
• Curative Cell and Gene Therapy for Osteogenesis Imperfecta

  2022cites this paper
• Intrafibrillar mineralization deficiency and osteogenesis imperfecta mouse bone fragility.

  2021cites this paper
• Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta.

  2021cites this paper
• The expression of two collagen receptor subfamilies, integrins and discoidin domains during osteogenic and chondrogenic differentiation of human mesenehymal stem cells

  2021cites this paper
• A History of Mouse Genetics: From Fancy Mice to Mutations in Every Gene.

  2020cites this paper
• Animal models of osteogenesis imperfecta: applications in clinical research

  2016cites this paper
• Assessment of the developmental toxicity of nanoparticles in an ex vivo 3D model, the murine limb bud culture system

  2015cites this paper
• Genetics of the Mouse

  2014cites this paper
• What is new in genetics and osteogenesis imperfecta classification?

  2014cites this paper
• Potential of Human Fetal Chorionic Stem Cells for the Treatment of Osteogenesis Imperfecta

  2014influential citation
• Defective Endochondral Ossification-Derived Matrix and Bone Cells Alter the Lymphopoietic Niche in Collagen X Mouse Models

  2013cites this paper
• Characterization of skin abnormalities in a mouse model of osteogenesis imperfecta using high resolution magnetic resonance imaging and Fourier transform infrared imaging spectroscopy

  2012cites this paper
• Establishment of a canine model of human type 2 diabetes mellitus by overexpressing phosphoenolypyruvate carboxykinase.

  2012cites this paper
• Tooth dentin defects reflect genetic disorders affecting bone mineralization.

  2012cites this paper
• An essential role of discoidin domain receptor 2 (DDR2) in osteoblast differentiation and chondrocyte maturation via modulation of Runx2 activation

  2011cites this paper
• New perspectives on osteogenesis imperfecta

  2011cites this paper
• Mutation of the 5′-Untranslated Region Stem-Loop Structure Inhibits α1(I) Collagen Expression in Vivo*

  2010cites this paper
• Protein kinase D (PKD) mouse models – towards an understanding of the physiological role of PKD

  2008cites this paper
• Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors

  2008cites this paper
• ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta

  2007cites this paper
• Animal models of osteogenesis imperfecta and related syndromes

  2007cites this paper
• Emerging therapeutic approaches for osteogenesis imperfecta.

  2005cites this paper
• Endogenously expressed multimeric self-cleaving hammerhead ribozymes ablate mutant collagen in cellulo.

  2005cites this paper
• Genetically Modified Animal Models as Tools for Studying Bone and Mineral Metabolism

  2004cites this paper
• Quantitative analysis of nucleic acids--the last few years of progress.

  2004cites this paper
• Genetic manipulation of mammary gland development and lactation.

  2004cites this paper
• Averting abnormal inheritance: potential of gene therapy and preimplantation diagnosis.

  2004cites this paper
• Functional genomics approach using mice.

  2004cites this paper
• Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta

  2003cites this paper
• Advances in osteogenesis imperfecta.

  2002cites this paper
• Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect

  2002cites this paper
• Musculoskeletal disorders and orthopedic conditions.

  2001cites this paper
• Osteogenesis imperfecta at the beginning of bone and joint decade.

  2001cites this paper
• [Murine models for human diseases].

  2001cites this paper
• Production of gene-targeted sheep by nuclear transfer from cultured somatic cells

  2000cites this paper
• Osteogenesis imperfecta: prospects for molecular therapeutics.

  2000cites this paper
• Bone development.

  2000cites this paper
• Contribution of genetically modified mouse models to the elucidation of bone physiology.

  1999cites this paper
• The long and the short of it: developmental genetics of the skeletal dysplasias

  1999cites this paper
• Collagen and Bone Strength

  1999cites this paper
• Hopkins Memorial Medal lecture. Pleasant surprises en route from the biochemistry of collagen to attempts at gene therapy.

  1999cites this paper
• Use of the Cre/lox Recombination System to Develop a Non-lethal Knock-in Murine Model for Osteogenesis Imperfecta with an α1(I) G349C Substitution

  1999cites this paper
• Transcriptional and Posttranscriptional Silencing of Rodent α1(I) Collagen by a Homologous Transcriptionally Self-Silenced Transgene

  1999cites this paper
• Mouse models for extracellular matrix diseases

  1998cites this paper
• What holds us together? Why do some of us fall apart? What can we do about it?

  1998cites this paper
• The long and the short of it: developmental genetics of the skeletal dysplasias

  1998cites this paper
• In vitro expression analysis of collagen biosynthesis and assembly.

  1997cites this paper
• Effect of rhBMP-2 on the osteogenic potential of bone marrow stromal cells from an osteogenesis imperfecta mouse (oim).

  1997cites this paper
• The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta.

  1997cites this paper
• Osteochondrodysplasia Occurring in Transgenic Mice Expressing Interferon-γ

  1997cites this paper
• Mutations in fibrillar collagens (types I, II, III, and XI), fibril‐associated collagen (type IX), and network‐forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

  1997cites this paper
• Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development‐matrix components and their homeostasis

  1997cites this paper
• Mineral changes in a transgenic mouse model for osteogenesis imperfecta.

  1996cites this paper
• Essential fatty acid deficiency and bone fragility in rats.

  1996cites this paper
• The pathology of osteogenesis imperfecta.

  1996cites this paper
• Transgenic animals: how they are made and their role in animal production and research.

  1996cites this paper
• Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta.

  1996cites this paper
• Transgenic and knockout mice in the study of neurodegenerative diseases

  1996cites this paper
• Systemic versus cartilage-specific expression of a type II collagen-specific T-cell epitope determines the level of tolerance and susceptibility to arthritis.

  1996cites this paper
• Noninfectious gene transfer and expression systems for cancer gene therapy.

  1996cites this paper
• [Ehlers-Danlos syndromes. Clinical, genetic and molecular aspects].

  1995cites this paper
• The strength of a calcified tissue depends in part on the molecular structure and organization of its constituent mineral crystals in their organic matrix.

  1995cites this paper
• OIM and related animal models of osteogenesis imperfecta.

  1995cites this paper
• Transgenic and gene disruption techniques in the study of neurocarcinogenesis

  1995cites this paper
• Copper binding to the N-terminal tandem repeat regions of mammalian and avian prion protein.

  1995cites this paper
• Collagens: molecular biology, diseases, and potentials for therapy.

  1995cites this paper
• Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage.

  1995cites this paper
• Perinatal lethal osteogenesis imperfecta.

  1995cites this paper
• A targeted mutation at the known collagenase cleavage site in mouse type I collagen impairs tissue remodeling

  1995cites this paper
• Transcriptional repression of the α1(I) collagen gene by ras is mediated in part by an intronic AP1 site

  1995cites this paper
• Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.

  1995cites this paper
• Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862→Ser substitution in a type I collagen gene (COL1A1)

  1995cites this paper
• Insights into cellular energy metabolism from transgenic mice.

  1995cites this paper
• Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis.

  1995cites this paper
• Developmental pattern of expression of the mouse α1(XI) collagen gene (Col11a1)

  1995cites this paper
• An ultrastructural, microanalytical, and spectroscopic study of bone from a transgenic mouse with a COL1.A1 pro-alpha-1 mutation.

  1994cites this paper
• A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

  1994cites this paper
• Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.

  1994cites this paper
• Collagen genes: mutations affecting collagen structure and expression.

  1994cites this paper
• Of mice and men: heritable skeletal disorders.

  1994cites this paper
• Osteogenesis imperfecta: from phenotype to genotype and back again.

  1994cites this paper
• Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1). A breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral.

  1993cites this paper
• Collagens and their abnormalities in a wide spectrum of diseases.

  1993cites this paper
• [Mutation of collagen genes and familial osteoarthritis].

  1993cites this paper
• COL1A2 and COL2A1 expression in temporal bone of lethal osteogenesis imperfecta.

  1993cites this paper
• The alpha 2(XI) collagen gene lies within 8 kb of Pb in the proximal portion of the murine major histocompatibility complex.

  1993cites this paper
• A type I collagen reporter gene construct for protein engineering studies. Functional equivalence of transfected reporter COL1A1 and endogenous gene products during biosynthesis and in vitro extracellular matrix accumulation.

  1993cites this paper
• A mouse 3T6 fibroblast cell culture model for the study of normal and protein-engineered collagen synthesis and deposition into the extracellular matrix.

  1993cites this paper
• Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta

  1993cites this paper
• Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.

  1993cites this paper
• Assembly of cartilage collagen fibrils is disrupted by overexpression of normal type II collagen in transgenic mice.

  1993cites this paper
• Stomatin: a putative cation transport regulator in the red cell membrane.

  1993cites this paper
• Genetics of Connective Tissue Disease

  1993cites this paper
• An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints.

  1993cites this paper
• Susceptibility of type I collagen containing mutated alpha 1(1) chains to cleavage by human neutrophil collagenase.

  1993cites this paper
• Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.

  1993cites this paper