Bone Material Properties in Osteogenesis Imperfecta

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

(2015) Roberto Mendoza-Londono et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

(2015) Frank Rauch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

(2015) Lutz Garbes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

(2015) Craig F. Munns et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CRTAPmutation in a patient with Cole-Carpenter syndrome

(2015) Meena Balasubramanian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone

(2015) Nadja Fratzl-Zelman et al.   BONE

Alendronate treatment alters bone tissues at multiple structural levels in healthy canine cortical bone

(2015) Claire Acevedo et al.   BONE

Fragility of Bone Material Controlled by Internal Interfaces

(2015) Wolfgang Wagermaier et al.   CALCIFIED TISSUE INTERNATIONAL

Effects of Collagen Crosslinking on Bone Material Properties in Health and Disease

(2015) Mitsuru Saito et al.   CALCIFIED TISSUE INTERNATIONAL

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

(2015) José-Mario Capo-Chichi et al.   European Journal of Medical Genetics

Identifying Novel Clinical Surrogates to Assess Human Bone Fracture Toughness

(2015) Mathilde Granke et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Bone Material Strength as Measured by Microindentation In Vivo Is Decreased in Patients With Fragility Fractures Independently of Bone Mineral Density

(2015) Frank Malgo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Type V OI Primary Osteoblasts Display Increased Mineralization Despite DecreasedCOL1A1Expression

(2015) Adi Reich et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A direct role of collagen glycation in bone fracture

(2015) Atharva A. Poundarik et al.   Journal of the Mechanical Behavior of Biomedical Materials

Structure–mechanics relationships of collagen fibrils in the osteogenesis imperfecta mouse model

(2015) O. G. Andriotis et al.   Journal of the Royal Society Interface

Fracture resistance of human cortical bone across multiple length-scales at physiological strain rates

(2014) Elizabeth A. Zimmermann et al.   BIOMATERIALS

Reduced diaphyseal strength associated with high intracortical vascular porosity within long bones of children with osteogenesis imperfecta

(2014) Carolyne Albert et al.   BONE

Reference point indentation is not indicative of whole mouse bone measures of stress intensity fracture toughness

(2014) Alessandra Carriero et al.   BONE

Altered lacunar and vascular porosity in osteogenesis imperfecta mouse bone as revealed by synchrotron tomography contributes to bone fragility

(2014) A. Carriero et al.   BONE

Multi-scale analysis of bone chemistry, morphology and mechanics in the oim model of osteogenesis imperfecta

(2014) Zachary R. Bart et al.   CONNECTIVE TISSUE RESEARCH

How Tough Is Brittle Bone? Investigating Osteogenesis Imperfecta in Mouse Bone

(2014) Alessandra Carriero et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A NovelIFITM5Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

(2014) Charles R Farber et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Effect of Denosumab on the Growing Skeleton in Osteogenesis Imperfecta

(2014) Heike Hoyer-Kuhn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

(2014) Eric S. Orwoll et al.   JOURNAL OF CLINICAL INVESTIGATION

A methodology for the investigation of toughness and crack propagation in mouse bone

(2014) Alessandra Carriero et al.   Journal of the Mechanical Behavior of Biomedical Materials

Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta

(2014) Ingo Grafe et al.   NATURE MEDICINE

Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI

(2014) Heike Hoyer-Kuhn et al.   Orphanet Journal of Rare Diseases

Citrate bridges between mineral platelets in bone

(2014) E. Davies et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Role of Nanoscale Toughening Mechanisms in Osteoporosis

(2014) Philipp J. Thurner et al.   Current Osteoporosis Reports

Mutations in WNT1 Cause Different Forms of Bone Fragility

(2013) Katharina Keupp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations

(2013) Nadja Fratzl-Zelman et al.   BONE

Hyperosteoidosis and Hypermineralization in the Same Bone: Bone Tissue Analyses in a Boy with a Homozygous BMP1 Mutation

(2013) Heike Hoyer-Kuhn et al.   CALCIFIED TISSUE INTERNATIONAL

Genotype–phenotype study in type V osteogenesis imperfecta

(2013) Meena Balasubramanian et al.   CLINICAL DYSMORPHOLOGY

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta

(2013) Julie Rousseau et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype ofFKBP10  Mutations

(2013) Aileen M. Barnes et al.   HUMAN MUTATION

Mutations in WNT1 are a cause of osteogenesis imperfecta

(2013) Somayyeh Fahiminiya et al.   JOURNAL OF MEDICAL GENETICS

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

(2013) Nick Bishop et al.   LANCET

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

(2013) Sofie Symoens et al.   Orphanet Journal of Rare Diseases

Differences in non-enzymatic glycation and collagen cross-links between human cortical and cancellous bone

(2013) L. Karim et al.   OSTEOPOROSIS INTERNATIONAL

Potential of Human Fetal Chorionic Stem Cells for the Treatment of Osteogenesis Imperfecta

(2013) Gemma N. Jones et al.   STEM CELLS AND DEVELOPMENT

Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience

(2013) Cecilia Götherström et al.   Stem Cells Translational Medicine

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

(2012) P.V. Asharani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

(2012) Oliver Semler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Post-translational modification of osteopontin: Effects on in vitro hydroxyapatite formation and growth

(2012) Adele L. Boskey et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Structural and Mechanical Differences between Collagen Homo- and Heterotrimers: Relevance for the Molecular Origin of Brittle Bone Disease

(2012) Shu-Wei Chang et al.   BIOPHYSICAL JOURNAL

Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice

(2012) Maximilien Vanleene et al.   BONE

The Role of Phosphatases in the Initiation of Skeletal Mineralization

(2012) José Luis Millán   CALCIFIED TISSUE INTERNATIONAL

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

(2012) U. Schwarze et al.   HUMAN MOLECULAR GENETICS

Hydration and distance dependence of intermolecular shearing between collagen molecules in a model microfibril

(2012) Alfonso Gautieri et al.   JOURNAL OF BIOMECHANICS

The importance of the SIBLING family of proteins on skeletal mineralisation and bone remodelling

(2012) Katherine A Staines et al.   JOURNAL OF ENDOCRINOLOGY

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation

(2012) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

The nanometre-scale physiology of bone: steric modelling and scanning transmission electron microscopy of collagen-mineral structure

(2012) B. Alexander et al.   Journal of the Royal Society Interface

A Model for the Ultrastructure of Bone Based on Electron Microscopy of Ion-Milled Sections

(2012) Elizabeth A. McNally et al.   PLoS One

Heterogeneous Glycation of Cancellous Bone and Its Association with Bone Quality and Fragility

(2012) Lamya Karim et al.   PLoS One

Extracellular Matrix Mineralization Promotes E11/gp38 Glycoprotein Expression and Drives Osteocytic Differentiation

(2012) Matthew Prideaux et al.   PLoS One

The role of intracellular calcium phosphate in osteoblast-mediated bone apatite formation

(2012) S. Boonrungsiman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dilatational band formation in bone

(2012) A. A. Poundarik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

(2011) Jutta Becker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Poorly Ordered Bone as an Endogenous Scaffold for the Deposition of Highly Oriented Lamellar Tissue in Rapidly Growing Ovine Bone

(2011) Michael Kerschnitzki et al.   CELLS TISSUES ORGANS

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

(2011) Katarina Lindahl et al.   HUMAN MUTATION

Pigment Epithelium-derived Factor (PEDF) Shares Binding Sites in Collagen with Heparin/Heparan Sulfate Proteoglycans

(2011) Atsushi Sekiya et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

(2011) Erica P Homan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The conflicts between strength and toughness

(2011) Robert O. Ritchie   NATURE MATERIALS

A molecular dynamics study of the interprotein interactions in collagen fibrils

(2011) Ian Streeter et al.   Soft Matter

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

(2010) Pablo Lapunzina 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

New Method for Raman Investigation of the Orientation of Collagen Fibrils and Crystallites in the Haversian System of Bone

(2010) Guillaume Falgayrac et al.   APPLIED SPECTROSCOPY

Transplantation of human fetal blood stem cells in the osteogenesis imperfecta mouse leads to improvement in multiscale tissue properties

(2010) M. Vanleene et al.   BLOOD

Collagen fibril surface displays a constellation of sites capable of promoting fibril assembly, stability, and hemostasis

(2010) J. P. R. O. Orgel et al.   CONNECTIVE TISSUE RESEARCH

Molecular and structural mapping of collagen fibril interactions

(2010) J. P. R. O. Orgel et al.   CONNECTIVE TISSUE RESEARCH

Microindentation for in vivo measurement of bone tissue mechanical properties in humans

(2010) Adolfo Diez-Perez et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: Clues to pathogenesis

(2010) Paul Arundel et al.   JOURNAL OF BONE AND MINERAL RESEARCH

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Time-lapsed assessment of microcrack initiation and propagation in murine cortical bone at submicrometer resolution

(2009) R. Voide et al.   BONE

Ductile sliding between mineral crystals followed by rupture of collagen crosslinks: Experimentally supported micromechanical explanation of bone strength

(2009) Andreas Fritsch et al.   JOURNAL OF THEORETICAL BIOLOGY

Effect of Ca2+ Ions on the Adhesion and Mechanical Properties of Adsorbed Layers of Human Osteopontin

(2008) Bruno Zappone et al.   BIOPHYSICAL JOURNAL

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

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

Biomineralization: A structural perspective

(2008) Stephen Weiner   JOURNAL OF STRUCTURAL BIOLOGY

Fracture of bone tissue: The ‘hows’ and the ‘whys’

(2008) H.S. Gupta et al.   MEDICAL ENGINEERING & PHYSICS

Collagen maturity, glycation induced-pentosidine, and mineralization are increased following 3-year treatment with incadronate in dogs

(2008) M. Saito et al.   OSTEOPOROSIS INTERNATIONAL