标题
New perspectives on osteogenesis imperfecta
作者
关键词
-
出版物
Nature Reviews Endocrinology
Volume 7, Issue 9, Pages 540-557
出版商
Springer Nature
发表日期
2011-06-14
DOI
10.1038/nrendo.2011.81
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
- (2011) Jutta Becker et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
- (2011) Shawna M. Pyott et al. HUMAN MOLECULAR GENETICS
- Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
- (2010) Pablo Lapunzina et al. AMERICAN JOURNAL OF HUMAN GENETICS
- FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?
- (2010) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
- (2010) Yasemin Alanay et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
- (2010) Helena E. Christiansen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Immature Osteoblast Lineage Cells Increase Osteoclastogenesis in Osteogenesis Imperfecta Murine
- (2010) Haitao Li et al. AMERICAN JOURNAL OF PATHOLOGY
- A structure–activity relationship study elucidating the mechanism of sequence-specific collagen recognition by the chaperone HSP47
- (2010) Yoshimi Nishikawa et al. BIOORGANIC & MEDICINAL CHEMISTRY
- Cellular communications in bone homeostasis and repair
- (2010) Ken-ichi Nakahama CELLULAR AND MOLECULAR LIFE SCIENCES
- RANKL Inhibition Improves Bone Properties in a Mouse Model of Osteogenesis Imperfecta
- (2010) Renee Bargman et al. CONNECTIVE TISSUE RESEARCH
- Characterising and treating osteogenesis imperfecta
- (2010) Nick Bishop EARLY HUMAN DEVELOPMENT
- GH in combination with bisphosphonate treatment in osteogenesis imperfecta
- (2010) Franco Antoniazzi et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
- (2010) Frank Rauch et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Amelioration of a mouse model of osteogenesis imperfecta with hematopoietic stem cell transplantation: Microcomputed tomography studies
- (2010) Meenal Mehrotra et al. EXPERIMENTAL HEMATOLOGY
- Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study
- (2010) ALESSANDRA MAJORANA et al. International Journal of Paediatric Dentistry
- Prolyl 3-Hydroxylase 1 Null Mice Display Abnormalities in Fibrillar Collagen-rich Tissues Such as Tendons, Skin, and Bones
- (2010) Janice A. Vranka et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Extracellular matrix stoichiometry in osteoblasts from patients with osteogenesis imperfecta
- (2010) Neal S. Fedarko et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Long-term extracellular matrix metabolism by cultured human osteogenesis imperfecta osteoblasts
- (2010) Neal S. Fedarko et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Osteogenesis imperfecta: Changes in noncollagenous proteins in bone
- (2010) U. Vetter et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Sclerostin: A gem from the genome leads to bone-building antibodies
- (2010) Chris Paszty et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
- (2010) Brian P Kelley et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study
- (2010) L. M. Ward et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Nanoscale morphology of Type I collagen is altered in the Brtl mouse model of Osteogenesis Imperfecta
- (2010) Joseph M. Wallace et al. JOURNAL OF STRUCTURAL BIOLOGY
- New drugs: Denosumab, dienogest/estradiol valerate, and polidocanol
- (2010) Daniel A. Hussar et al. JOURNAL OF THE AMERICAN PHARMACISTS ASSOCIATION
- Osteogenesis Imperfecta, Normal Collagen Folding, and Lack of Cyclophilin B
- (2010) NEW ENGLAND JOURNAL OF MEDICINE
- Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding
- (2010) Aileen M. Barnes et al. NEW ENGLAND JOURNAL OF MEDICINE
- Generalized Connective Tissue Disease in Crtap-/- Mouse
- (2010) Dustin Baldridge et al. PLoS One
- PPIB Mutations Cause Severe Osteogenesis Imperfecta
- (2009) Fleur S. van Dijk et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autophagy eliminates a specific species of misfolded procollagen and plays a protective role in cell survival against ER stress
- (2009) Yoshihito Ishida et al. Autophagy
- In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta
- (2009) C. Panaroni et al. BLOOD
- CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII
- (2009) N. Fratzl-Zelman et al. BONE
- Bisphosphonate treatment modifies canine bone mineral and matrix properties and their heterogeneity
- (2009) Samuel Gourion-Arsiquaud et al. BONE
- The unfolded protein response and its relevance to connective tissue diseases
- (2009) Raymond P. Boot-Handford et al. CELL AND TISSUE RESEARCH
- Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta
- (2009) Joan C. Marini et al. CELL AND TISSUE RESEARCH
- Expression of Prolyl 3-hydroxylase Genes in Embryonic and Adult Mouse Tissues
- (2009) Janice Vranka et al. CELL STRUCTURE AND FUNCTION
- Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review
- (2009) HEIDI CASTILLO et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Valvular Heart Disease in Osteogenesis Imperfecta: Presentation of a Case and Review of the Literature
- (2009) Raphael E. Bonita et al. ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES
- Classification of Osteogenesis Imperfecta revisited
- (2009) F.S. Van Dijk et al. European Journal of Medical Genetics
- Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex
- (2009) Weizhong Chang et al. HUMAN MOLECULAR GENETICS
- Biochemical Characterization of the Prolyl 3-Hydroxylase 1·Cartilage-associated Protein·Cyclophilin B Complex
- (2009) Yoshihiro Ishikawa et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The 26 S Proteasome: From Basic Mechanisms to Drug Targeting
- (2009) Ami Navon et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Location of 3-Hydroxyproline Residues in Collagen Types I, II, III, and V/XI Implies a Role in Fibril Supramolecular Assembly
- (2009) Mary Ann Weis et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model
- (2009) Ethan Daley et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Autophagic Elimination of Misfolded Procollagen Aggregates in the Endoplasmic Reticulum as a Means of Cell Protection
- (2009) Yoshihito Ishida et al. MOLECULAR BIOLOGY OF THE CELL
- Use of bisphosphonates in children—proceed with caution
- (2009) Joan C. Marini Nature Reviews Endocrinology
- The Role of Collagen Crosslinking in Differentiation of Human Mesenchymal Stem Cells and MC3T3-E1 Cells
- (2009) Hugo Fernandes et al. TISSUE ENGINEERING PART A
- Severe Osteogenesis Imperfecta in Cyclophilin B–Deficient Mice
- (2009) Jae Won Choi et al. PLoS Genetics
- A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta
- (2009) Cord Drögemüller et al. PLoS Genetics
- Popcorn calcification in osteogenesis imperfecta: Incidence, progression, and molecular correlation
- (2008) Abimbola A. Obafemi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Osteogenesis imperfecta
- (2008) Francis H. Glorieux BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
- Role of genetic background in determining phenotypic severity throughout postnatal development and at peak bone mass in Col1a2 deficient mice (oim)
- (2008) Stephanie M. Carleton et al. BONE
- Evidence that Abnormal High Bone Mineralization in Growing Children with Osteogenesis Imperfecta is not Associated with Specific Collagen Mutations
- (2008) Paul Roschger et al. CALCIFIED TISSUE INTERNATIONAL
- Specific entities affecting the craniocervical region
- (2008) Arnold H. Menezes CHILDS NERVOUS SYSTEM
- Surgical treatment of osteogenesis imperfecta: current concepts
- (2008) Paul Esposito et al. CURRENT OPINION IN PEDIATRICS
- Effects of bisphosphonates on tooth eruption in children with osteogenesis imperfecta
- (2008) Agnès Kamoun-Goldrat et al. EUROPEAN JOURNAL OF ORAL SCIENCES
- Effect of the -Gly-3(S)-hydroxyprolyl-4(R)-hydroxyprolyl- tripeptide unit on the stability of collagen model peptides
- (2008) Kazunori Mizuno et al. FEBS Journal
- Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships
- (2008) Dale L. Bodian et al. HUMAN MOLECULAR GENETICS
- CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta
- (2008) Dustin Baldridge et al. HUMAN MUTATION
- Impairment of diastolic function in adult patients affected by osteogenesis imperfecta clinically asymptomatic for cardiac disease: Casuality or causality?
- (2008) Silvia Migliaccio et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Defective C-propeptides of the Proα2(I) Chain of Type I Procollagen Impede Molecular Assembly and Result in Osteogenesis Imperfecta
- (2008) James M. Pace et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates
- (2008) Shawn M. Sweeney et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Rough Endoplasmic Reticulum-resident FK506-binding Protein FKBP65 Is a Molecular Chaperone That Interacts with Collagens
- (2008) Yoshihiro Ishikawa et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Biomechanical effect of mineral heterogeneity in trabecular bone
- (2008) G.A.P. Renders et al. JOURNAL OF BIOMECHANICS
- Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors
- (2008) Thomas E Uveges et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Positive Regulation of Adult Bone Formation by Osteoblast-Specific Transcription Factor Osterix
- (2008) Wook-Young Baek et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Alendronate Treatment of the Brtl Osteogenesis Imperfecta Mouse Improves Femoral Geometry and Load Response Before Fracture but Decreases Predicted Material Properties and Has Detrimental Effects on Osteoblasts and Bone Formation
- (2008) Thomas E Uveges et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Clinical Review: Bisphosphonate Use in Childhood Osteoporosis
- (2008) Laura K. Bachrach et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease)
- (2008) Tae-Joon Cho et al. JOURNAL OF HUMAN GENETICS
- Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
- (2008) A Willaert et al. JOURNAL OF MEDICAL GENETICS
- ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta
- (2008) Thomas S. Lisse et al. PLoS Genetics
- Osteogenesis Imperfecta: Update on presentation and management
- (2008) Moira S. Cheung et al. REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
- Physical Training in Children with Osteogenesis Imperfecta
- (2007) Marco Van Brussel et al. JOURNAL OF PEDIATRICS
- Gene Targeting of Mutant COL1A2 Alleles in Mesenchymal Stem Cells From Individuals With Osteogenesis Imperfecta
- (2007) Joel R Chamberlain et al. MOLECULAR THERAPY
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started