Osteogenesis imperfecta: perspectives and opportunities

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Current opinion in pediatrics

• Publication date

  2000-12-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/00008480-200012000-00016PMID 11106283
• 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.

• Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.

  2000cited by this paper
• Alendronate is a specific, nanomolar inhibitor of farnesyl diphosphate synthase.

  2000cited by this paper
• Calcium Kinetics in Children with Osteogenesis Imperfecta Type III and IV: Pre- and Post-Growth Hormone Therapy

  2000cited by this paper
• Alendronate in early postmenopausal women: effects on bone mass during long-term treatment and after withdrawal. Alendronate Osteoporosis Prevention Study Group.

  2000cited by this paper
• Severe osteopenia with recurrent fractures after bone marrow transplant for Wiskott-Aldrich syndrome: a case report.

  2000cited by this paper
• Alendronate and estrogen effects in postmenopausal women with low bone mineral density. Alendronate/Estrogen Study Group.

  2000cited by this paper
• Statins: lower lipids and better bones?

  2000cited by this paper
• Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age.

  2000cited by this paper
• [Child abuse and osteogenesis imperfecta. How do we distinguish?].

  2000cited by this paper
• Marrow stromal stem cells.

  2000cited by this paper
• [Biosphonates in oncology].

  2000cited by this paper
• Risedronate reverses bone loss in postmenopausal women with low bone mass: results from a multinational, double-blind, placebo-controlled trial. BMD-MN Study Group.

  2000cited by this paper
• Current and future directions in medical therapy

  2000cited by this paper
• Prevention and treatment of osteoporosis: efficacy of combination of hormone replacement therapy with other antiresorptive agents.

  2000cited by this paper
• Bisphosphonates and the prevention of metastasis

  2000cited by this paper
• Osteogenesis imperfecta calls for caution-first letter

  1999cited by this paper
• Alendronate mechanism of action: geranylgeraniol, an intermediate in the mevalonate pathway, prevents inhibition of osteoclast formation, bone resorption, and kinase activation in vitro.

  1999cited by this paper
• Proteasomal degradation of unassembled mutant type I collagen pro-alpha1(I) chains.

  1999cited by this paper
• Bisphosphonates in Children with Osteogenesis Imperfecta may Improve Bone Mineralization but not Bone Strength. Report of Two Patients

  1999cited by this paper
• Nonsense-mediated mRNA decay in health and disease.

  1999cited by this paper
• Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta

  1999cited by this paper
• Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken.

  1999cited by this paper
• Cells Capable of Bone Production Engraft from Whole Bone Marrow Transplants in Nonablated Mice

  1999cited by this paper
• Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV.

  1999cited by this paper
• Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.

  1999cited by 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

  1999cited by this paper
• Mesenchymal stem cells: No longer second class marrow citizens

  1999cited by this paper
• Mild autosomal dominant hypophosphatasia: in utero presentation in two families.

  1999cited by this paper
• Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta.

  1999cited by this paper
• Proteasomal Degradation of Unassembled Mutant Type I Collagen Pro-α1(I) Chains*

  1999cited by this paper
• Osteogenesis imperfecta in childhood: impairment and disability--a follow-up study.

  1999cited by this paper
• Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones.

  1999cited by this paper
• Relationship between bisphosphonate concentration and osteoclast activity and viability

  1999cited by this paper
• Retrovirally transduced bone marrow stromal cells isolated from a mouse model of human osteogenesis imperfecta (oim) persist in bone and retain the ability to form cartilage and bone after extended passaging

  1999cited by this paper
• Temporary Brittle Bone Disease: Association with Decreased Fetal Movement and Osteopenia

  1999cited by this paper
• Osteogenesis imperfecta: Mosaicism and refinement of the genotype‐phenotype map in OI type III

  1999cited by this paper
• Osteogenesis imperfecta calls for caution.

  1999cited by this paper
• Stimulation of bone formation in vitro and in rodents by statins.

  1999cited by this paper
• Osteogenesis imperfecta calls for caution-second letter

  1999cited by this paper
• Folding of peptide models of collagen and misfolding in disease.

  1999cited by this paper
• Osteogenesis imperfecta calls for caution.

  1999cited by this paper
• Osteogenesis imperfecta: Are fractures and growth hormone treatment linked?

  1998cited by this paper
• Increased prevalence of factor V Leiden mutation in neonatal intracranial haemorrhage.

  1998cited by this paper
• Collagen‐derived markers of bone metabolism in osteogenesis imperfecta

  1998cited by this paper
• Beneficial effect of bisphosphonate during five years of treatment of severe osteogenesis imperfecta

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

  1998cited by this paper
• Cyclic administration of pamidronate in children with severe osteogenesis imperfecta.

  1998cited by this paper
• Nuclear magnetic resonance shows asymmetric loss of triple helix in peptides modeling a collagen mutation in brittle bone disease.

  1998cited by this paper
• Marrow stromal cells as a source of progenitor cells for nonhematopoietic tissues in transgenic mice with a phenotype of osteogenesis imperfecta.

  1998cited by this paper
• Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.

  1998cited by this paper
• The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta.

  1998cited by this paper
• Intravenous pamidronate treatment in osteogenesis imperfecta.

  1998cited by this paper
• Bone Histomorphometry in Adults With Type IA Osteogenesis Imperfecta

  1997cited by this paper
• Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta

  1997cited by this paper
• Intravenous pamidronate treatment in osteogenesis imperfecta.

  1997cited by this paper
• Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate)

  1997cited by 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

  1997cited by this paper
• Non-accidental injury or brittle bones

  1997cited by this paper
• Drug disposition of incadronate, a new bisphosphonate, in rats with bone metastases.

  1997cited by this paper
• STRATEGIES AND OUTCOMES OF PRENATAL DIAGNOSIS FOR OSTEOGENESIS IMPERFECTA: A REVIEW OF BIOCHEMICAL AND MOLECULAR STUDIES COMPLETED IN 129 PREGNANCIES

  1997cited by this paper
• Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes

  1997cited by this paper
• Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis.

  1996cited by this paper
• Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.

  1996cited by this paper
• Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.

  1996cited by this paper
• Tracing the pathway between mutation and phenotype in osteogenesis imperfecta: isolation of mineralization-specific genes.

  1996cited by this paper
• Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta.

  1996cited by this paper
• Cultured adherent cells from marrow can serve as long-lasting precursor cells for bone, cartilage, and lung in irradiated mice.

  1995cited by this paper
• Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1) parallels the age‐dependent phenotype of human osteogenesis imperfecta

  1995cited by this paper
• Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta.

  1995cited by this paper
• When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

  1995cited by this paper
• Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta.

  1994cited by this paper
• Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

  1994cited by this paper
• Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form.

  1993cited by this paper
• The growth hormone and somatomedin axis in short children with osteogenesis imperfecta.

  1993cited by this paper
• Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.

  1993cited by this paper
• Evaluation of growth hormone axis and responsiveness to growth stimulation of short children with osteogenesis imperfecta.

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

  1993cited by this paper
• Comprehensive rehabilitation of the child with osteogenesis imperfecta.

  1993cited by this paper
• A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta

  1992cited by this paper
• Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease

  1992cited by this paper
• Copolymerization of normal type I collagen with three mutated type I collagens containing substitutions of cysteine at different glycine positions in the alpha 1 (I) chain.

  1992cited by this paper
• Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

  1990cited by this paper
• Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).

  1990cited by this paper
• Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

  1990cited by this paper
• Studies of type I collagen in osteogenesis imperfecta.

  1990cited by this paper
• Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

  1990cited by this paper
• A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.

  1988cited by this paper
• Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

  1988cited by this paper
• A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.

  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
• Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.

  1985cited by this paper
• Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

  1984cited by this paper
• Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

  1984cited by this paper
• Genetic heterogeneity in osteogenesis imperfecta.

  1979cited by this paper

• Біохімічні показники ротової рідини у дітей із недосконалим остеогенезом

  2024cites this paper
• Therapeutic Dimensions of Bisphosphonates: A Clinical Update

  2020cites this paper
• [Osteogenesis imperfecta].

  2020cites this paper
• Zebrafish and medaka as models for biomedical research of bone diseases.

  2020cites this paper
• Purpura and Other Hematovascular Disorders

  2019cites this paper
• Quantitative nanohistology : collagen disorders of connective and mineralised tissues

  2019cites this paper
• Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia

  2018cites this paper
• Osteogenesis Imperfecta

  2017cites this paper
• Bisphosphonate therapy for osteogenesis imperfecta.

  2016cites this paper
• Injectable High Viscosity Liquid Carriers for Bone Tissue Engineering

  2016cites this paper
• Efficacy and Safety of Bisphosphonate Therapy in Children with Osteogenesis Imperfecta: A Systematic Review

  2015cites this paper
• Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations.

  2014cites this paper
• Bisphosphonate therapy for osteogenesis imperfecta.

  2014cites this paper
• Dentinal ultrastructure in Osteogenesis Imperfecta and Dentinogenesis Imperfecta

  2013influential citation
• Van der Hoeve Syndrome and Stapes Surgery: Case Reports and a Review

  2013cites this paper
• The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

  2013cites this paper
• Osteogenesis imperfecta

  2012cites this paper
• A Diagnostic Approach to Skeletal Dysplasias

  2012cites this paper
• Regulatory Polymorphisms and Osteoporosis

  2012cites this paper
• Osteogenesis imperfecta associated with atlantoaxial rotatory fixation

  2011cites this paper
• Canadian Residents' Corner / Coin canadien des residents en radiologie Case of the Month #171: Osteogenesis Imperfecta of the Temporal Bone

  2011cites this paper
• Basic Cell Biology

  2010cites this paper
• Casos clínicos Osteogénesis imperfecta con manifestaciones en el periodo neonatal (Neonatal Presentation of Osteogenesis Imperfecta)

  2009cites this paper
• Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review

  2009cites this paper
• Neurosurgical implications of osteogenesis imperfecta in children. Report of 4 cases.

  2008cites this paper
• [Osteogenesis imperfecta and hearing loss in childhood].

  2008cites this paper
• Bisphosphonate therapy for osteogenesis imperfecta.

  2008cites this paper
• Intracranial meningioma in a patient with osteogenesis imperfecta

  2008cites this paper
• The importance of proline residues in the structure, stability and susceptibility to proteolytic degradation of collagens

  2008influential citation
• Evidence that Abnormal High Bone Mineralization in Growing Children with Osteogenesis Imperfecta is not Associated with Specific Collagen Mutations

  2008cites this paper
• L’ostéogenèse imparfaite, cause rare de surdité chez l’enfant

  2008cites this paper
• Osteogenesis imperfecta.

  2008cites this paper
• Traumatic and spontaneous scleral rupture and uveal prolapse in osteogenesis imperfecta.

  2007cites this paper
• Osteogenesis Imperfecta: Determining the Demographics and the Predictors of Death From an Inpatient Population

  2007cites this paper
• Chapter 11 – Purpura and Other Hematovascular Disorders

  2007cites this paper
• Mise au pointOstéogenèse imparfaiteOsteogenesis imperfecta

  2007cites this paper
• Pathologies génétiques des collagènes et conséquences sur le développement cranio-facial

  2007cites this paper
• Bisphosphonate treatment of tumor-induced hypercalcemia in a toddler: case report and review of related literature.

  2006cites this paper
• Structure, Biosynthesis and Gene Regulation of Collagens in Cartilage and Bone

  2006cites this paper
• CHAPTER 50 – Osteogenesis Imperfecta

  2006cites this paper
• Orthodontic Treatment and Orthognathic Surgery for Patients with Osteogenesis Imperfecta

  2006cites this paper
• Mutations in genes encoding components of a post-translational-modifying protein complex cause another collagen disease

  2006cites this paper
• CHAPTER 1 – Structure, Biosynthesis and Gene Regulation of Collagens in Cartilage and Bone

  2006cites this paper
• Craniofacial features in osteogenesis imperfecta: A cephalometric study

  2005cites this paper
• Genetic factors in bone disorders : osteogenesis imperfecta, juvenile osteoporosis and stress fractures

  2005cites this paper
• Matrix loading: assembly of extracellular matrix collagen fibrils during embryogenesis.

  2004cites this paper
• The role of pamidronate in pediatric patients with severe osteogenesis imperfecta.

  2004cites this paper
• Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model.

  2004cites this paper
• Treatment of poor linear growth in a patient with osteogenesis imperfecta type III.

  2004cites this paper
• Bisphosphonate therapy in children with osteogenesis imperfecta

  2004cites this paper
• Wrodzona łamliwość kości jako interdyscyplinarny problem medyczny

  2004cites this paper
• Osteogenesis imperfecta.

  2004cites this paper
• Spontaneous Carotid Artery Dissection in Two Siblings with Osteogenesis imperfecta

  2003cites this paper
• CHAPTER 16 – A Diagnostic Approach to Skeletal Dysplasias

  2003cites this paper
• Osteogenesis imperfecta--clinical and molecular diversity.

  2003cites this paper
• Advances in osteogenesis imperfecta.

  2002cites this paper
• Teaching Biology From An Engineering Perspective: Integrating Biology Into Undergraduate Engineering Education

  2002cites this paper
• Osteoporosis in Children and Adolescents: Diagnosis, Risk Factors, and Prevention

  2001cites this paper