New perspectives on osteogenesis imperfecta

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