Related references
Note: Only part of the references are listed.Cathepsin K Inhibition: A New Mechanism for the Treatment of Osteoporosis
Le T. Duong et al.
CALCIFIED TISSUE INTERNATIONAL (2016)
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta
S. Moosa et al.
CLINICAL GENETICS (2016)
IFITM5 mutations and osteogenesis imperfecta
Nobutaka Hanagata
JOURNAL OF BONE AND MINERAL METABOLISM (2016)
Calcium plus vitamin D supplementation and risk of fractures: an updated meta-analysis from the National Osteoporosis Foundation
C. M. Weaver et al.
OSTEOPOROSIS INTERNATIONAL (2016)
Efficacy of Bisphosphonates on Bone Mineral Density and Fracture Rate in Patients With Osteogenesis Imperfecta: A Systematic Review and Meta-analysis
Chang Gui Shi et al.
AMERICAN JOURNAL OF THERAPEUTICS (2016)
Pharmacological inhibition of cathepsin K: A promising novel approach for postmenopausal osteoporosis therapy
Kakoli Mukherjee et al.
BIOCHEMICAL PHARMACOLOGY (2016)
Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate
K. Lindahl et al.
BONE (2016)
Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment
Atsuko Sato et al.
BONE (2016)
Atypical femur fracture in an adolescent boy treated with bisphosphonates for X-linked osteoporosis based on PLS3 mutation
Denise M. van de Laarschot et al.
BONE (2016)
Effect of high-dose vitamin D supplementation on bone density in youth with osteogenesis imperfecta: A randomized controlled trial
Laura Plante et al.
BONE (2016)
Bisphosphonates: Pharmacokinetics, bioavailability, mechanisms of action, clinical applications in children, and effects on tooth development
Ana Prates Soares et al.
ENVIRONMENTAL TOXICOLOGY AND PHARMACOLOGY (2016)
Effects of Daily or Cyclic Teriparatide on Bone Formation in the Iliac Crest in Women on No Prior Therapy and in Women on Alendronate
David W. Dempster et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap-/- Mice, a Model of Recessive Osteogenesis Imperfecta
Ingo Grafe et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Bone Material Properties in Osteogenesis Imperfecta
Nick Bishop
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice
Abbhirami Rajagopal et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Continuous treatment with odanacatib for up to 8 years in postmenopausal women with low bone mineral density: a phase 2 study
R. Rizzoli et al.
OSTEOPOROSIS INTERNATIONAL (2016)
Teriparatide for osteoporosis: importance of the full course
R. Lindsay et al.
OSTEOPOROSIS INTERNATIONAL (2016)
New anti-resorptives and antibody mediated anti-resorptive therapy
A. J. Farrier et al.
BONE & JOINT JOURNAL (2016)
Advances in the Classification and Treatment of Osteogenesis Imperfecta
Inas H. Thomas et al.
CURRENT OSTEOPOROSIS REPORTS (2016)
Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC
Roberto Mendoza-Londono et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB
Frank Rauch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
Lutz Garbes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity
Kathleen Montpetit et al.
ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION (2015)
The developmental basis of mesenchymal stem/stromal cells (MSCs)
Guojun Sheng
BMC DEVELOPMENTAL BIOLOGY (2015)
Rapidly growing Brtl/ plus mouse model of osteogenesis imperfecta improves bone mass and strength with sclerostin antibody treatment
Benjamin P. Sinder et al.
BONE (2015)
Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta
Sung Yoon Cho et al.
HUMAN MUTATION (2015)
A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of the IFITM5 Mutation
Caressa D. Lietman et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta
Delfien Syx et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
Bisphosphonates for the Prevention of Fractures in Osteogenesis Imperfecta: Meta-Analysis of Placebo-Controlled Trials
Jannie D. Hald et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
Sustained Modeling-Based Bone Formation During Adulthood in Cynomolgus Monkeys May Contribute to Continuous BMD Gains With Denosumab
Michael S. Ominsky et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
Intravenous Bisphosphonate Therapy of Young Children With Osteogenesis Imperfecta: Skeletal Findings During Follow Up Throughout the Growing Years
Telma Palomo et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
A Randomized, Double-Blind Phase 2 Clinical Trial of Blosozumab, a Sclerostin Antibody, in Postmenopausal Women with Low Bone Mineral Density
Robert R. Recker et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
Short-Term Safety of Zoledronic Acid in Young Patients With Bone Disorders: An Extensive Institutional Experience
Sobenna George et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta?
Magnus Westgren et al.
PRENATAL DIAGNOSIS (2015)
Sclerostin and skeletal health
Maryam Sharifi et al.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS (2015)
Identification of the Common Origins of Osteoclasts, Macrophages, and Dendritic Cells in Human Hematopoiesis
Yanling Xiao et al.
STEM CELL REPORTS (2015)
The incidence of and risk factors for developing atypical femoral fractures in Japan
Yoshitomo Saita et al.
JOURNAL OF BONE AND MINERAL METABOLISM (2015)
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
F. S. Van Dijk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Effect of sclerostin antibody treatment in a mouse model of severe osteogenesis imperfecta
Andreas Roschger et al.
BONE (2014)
Inhibition of bone resorption by the cathepsin K inhibitor odanacatib is fully reversible
Y. Zhuo et al.
BONE (2014)
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation
Joan C. Marini et al.
CURRENT OPINION IN PEDIATRICS (2014)
Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta
Julie Rousseau et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Connective tissue alterations in Fkbp10-/- mice
Caressa D. Lietman et al.
HUMAN MOLECULAR GENETICS (2014)
The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations
Kyu Sang Joeng et al.
HUMAN MOLECULAR GENETICS (2014)
Topological Mapping of BRIL Reveals a Type II Orientation and Effects of Osteogenesis Imperfecta Mutations on Its Cellular Destination
Alexa Patoine et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2014)
Inhibition of Cathepsin K Increases Modeling-Based Bone Formation, and Improves Cortical Dimension and Strength in Adult Ovariectomized Monkeys
Brenda L. Pennypacker et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2014)
Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics
Somayyeh Fahiminiya et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2014)
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta
Eric S. Orwoll et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta
Ingo Grafel et al.
NATURE MEDICINE (2014)
Genotype-Phenotype Correlation - Promiscuity in the Era of Next-Generation Sequencing
James T. Lu et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Risk of Atypical Femoral Fracture during and after Bisphosphonate Use
Jorg Schilcher et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Romosozumab in Postmenopausal Women with Low Bone Mineral Density
Michael R. McClung et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Two years' experience with denosumab for children with Osteogenesis imperfecta type VI
Heike Hoyer-Kuhn et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Adult Brtl/+ mouse model of osteogenesis imperfecta demonstrates anabolic response to sclerostin antibody treatment with increased bone mass and strength
B. P. Sinder et al.
OSTEOPOROSIS INTERNATIONAL (2014)
Update on the Evaluation and Treatment of Osteogenesis Imperfecta
Jennifer Harrington et al.
PEDIATRIC CLINICS OF NORTH AMERICA (2014)
Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience
Cecilia Gotherstrom et al.
STEM CELLS TRANSLATIONAL MEDICINE (2014)
Mutations in WNT1 Cause Different Forms of Bone Fragility
Katharina Keupp et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
A Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
Masaki Takagi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Teriparatide Treatment in Adult Patients with Osteogenesis Imperfecta Type I
Davide Gatti et al.
CALCIFIED TISSUE INTERNATIONAL (2013)
Bone Collagen: New Clues to Its Mineralization Mechanism from Recessive Osteogenesis Imperfecta
David R. Eyre et al.
CALCIFIED TISSUE INTERNATIONAL (2013)
The Osteocyte: An Endocrine Cell . . . and More
Sarah L. Dallas et al.
ENDOCRINE REVIEWS (2013)
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Ulrike Schwarze et al.
HUMAN MOLECULAR GENETICS (2013)
Allele Dependent Silencing of Collagen Type I Using Small Interfering RNAs Targeting 3'UTR Indels - a Novel Therapeutic Approach in Osteogenesis Imperfecta
Katarina Lindahl et al.
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES (2013)
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation
Jay R. Shapiro et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2013)
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients
Frank Rauch et al.
JOURNAL OF MEDICAL GENETICS (2013)
WNT signaling in bone homeostasis and disease: from human mutations to treatments
Roland Baron et al.
NATURE MEDICINE (2013)
PLS3 Mutations in X-Linked Osteoporosis with Fractures
Fleur S. van Dijk et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
Christine M. Laine et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis
Bruce C. Trapnell et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Next-generation sequencing for disorders of low and high bone mineral density
G. Sule et al.
OSTEOPOROSIS INTERNATIONAL (2013)
Sclerostin Inhibition Reverses Skeletal Fragility in an Lrp5-Deficient Mouse Model of OPPG Syndrome
Rajendra Kedlaya et al.
SCIENCE TRANSLATIONAL MEDICINE (2013)
A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
Tae-Joon Cho et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
P. V. Asharani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
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
Oliver Semler et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms
Satoru Otsuru et al.
BLOOD (2012)
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
Fleur S. van Dijk et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in PLOD2 Cause Autosomal-Recessive Connective Tissue Disorders Within the Bruck Syndrome-Osteogenesis Imperfecta Phenotypic Spectrum
Maria Trinidad Puig-Hervas et al.
HUMAN MUTATION (2012)
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix
Aileen M. Barnes et al.
HUMAN MUTATION (2012)
Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen
Giacomo Venturi et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2012)
Safety of Osteoanabolic Therapy: A Decade of Experience
Cristiana Capriani et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2012)
Lack of Circulating Pigment Epithelium-Derived Factor Is a Marker of Osteogenesis Imperfecta Type VI
Frank Rauch et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
Ranad Shaheen et al.
JOURNAL OF MEDICAL GENETICS (2012)
Do patients with osteogenesis imperfecta need individualized nutritional support?
Carlos Eduardo Andrade Chagas et al.
NUTRITION (2012)
Comparable outcomes in fracture reduction and bone properties with RANKL inhibition and alendronate treatment in a mouse model of osteogenesis imperfecta
R. Bargman et al.
OSTEOPOROSIS INTERNATIONAL (2012)
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
Jutta Becker et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Mutations in FKBP10 Cause Both Bruck Syndrome and Isolated Osteogenesis Imperfecta in Humans
Ranad Shaheen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Endoplasmic reticulum stress or mutation of an EF-hand Ca2+-binding domain directs the FKBP65 rotamase to an ERAD-based proteolysis
Lindsey A. Murphy et al.
CELL STRESS & CHAPERONES (2011)
Reshaping of Vertebrae during Treatment with Neridronate or Pamidronate in Children with Osteogenesis Imperfecta
O. Semler et al.
HORMONE RESEARCH IN PAEDIATRICS (2011)
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
Shawna M. Pyott et al.
HUMAN MOLECULAR GENETICS (2011)
Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI
Erica P. Homan et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2011)
Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome
Brian P. Kelley et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2011)
Predictors and Correlates of Vitamin D Status in Children and Adolescents with Osteogenesis Imperfecta
Thomas Edouard et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study
L. M. Ward et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Evidence for osteocyte regulation of bone homeostasis through RANKL expression
Tomoki Nakashima et al.
NATURE MEDICINE (2011)
New perspectives on osteogenesis imperfecta
Antonella Forlino et al.
NATURE REVIEWS ENDOCRINOLOGY (2011)
Sclerostin Stimulates Osteocyte Support of Osteoclast Activity by a RANKL-Dependent Pathway
Asiri R. Wijenayaka et al.
PLOS ONE (2011)
Chaperoning osteogenesis: new protein-folding disease paradigms
Elena Makareeva et al.
TRENDS IN CELL BIOLOGY (2011)
Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
I. Mouna Ben Amor et al.
JOURNAL OF OSTEOPOROSIS (2011)
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
Pablo Lapunzina et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
Yasemin Alanay et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
Helena E. Christiansen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Dynamics of the transition from osteoblast to osteocyte
Sarah L. Dallas et al.
SKELETAL BIOLOGY AND MEDICINE (2010)
PEDF regulates osteoclasts via osteoprotegerin and RANKL
Toru Akiyama et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
Birth prevalence rates of skeletal dysplasias
Claude Stoll et al.
CLINICAL GENETICS (2010)
RANKL Inhibition Improves Bone Properties in a Mouse Model of Osteogenesis Imperfecta
Renee Bargman et al.
CONNECTIVE TISSUE RESEARCH (2010)
GH in combination with bisphosphonate treatment in osteogenesis imperfecta
Franco Antoniazzi et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2010)
Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
Frank Rauch et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Location of 3-Hydroxyproline Residues in Collagen Types I, II, III, and V/XI Implies a Role in Fibril Supramolecular Assembly
Mary Ann Weis et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Variable Bone Fragility Associated With an Amish COL1A2 Variant and a Knock-in Mouse Model
Ethan Daley et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
Inhibition of TGF-β Signaling by 1D11 Antibody Treatment Increases Bone Mass and Quality In Vivo
James R. Edwards et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
PPIB Mutations Cause Severe Osteogenesis Imperfecta
Fleur S. van Dijk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Osteogenesis imperfecta: questions and answers
Jay R. Shapiro et al.
CURRENT OPINION IN PEDIATRICS (2009)
Cell therapy for disorders of bone
Reena Jethva et al.
CYTOTHERAPY (2009)
Biochemical Characterization of the Prolyl 3-Hydroxylase 1.Cartilage-associated Protein.Cyclophilin B Complex
Yoshihiro Ishikawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Risedronate in the Treatment of Mild Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study
Frank Rauch et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2009)
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
A. Willaert et al.
JOURNAL OF MEDICAL GENETICS (2009)
TGF-β1-induced migration of bone mesenchymal stem cells couples bone resorption with formation
Yi Tang et al.
NATURE MEDICINE (2009)
Adverse Effects of Bisphosphonates: Implications for Osteoporosis Management
Kurt A. Kennel et al.
MAYO CLINIC PROCEEDINGS (2009)
Pharmacologic Inhibition of the TGF-β Type I Receptor Kinase Has Anabolic and Anti-Catabolic Effects on Bone
Khalid S. Mohammad et al.
PLOS ONE (2009)
CRTAP and LEPRE1 Mutations in Recessive Osteogenesis Imperfecta
Dustin Baldridge et al.
HUMAN MUTATION (2008)
The Rough Endoplasmic Reticulum-resident FK506-binding Protein FKBP65 Is a Molecular Chaperone That Interacts with Collagens
Yoshihiro Ishikawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Intracortical remodeling during human bone development - A histomorphometric study
Frank Rauch et al.
BONE (2007)
Consortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Joan C. Marini et al.
HUMAN MUTATION (2007)
CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta
Roy Morello et al.
CELL (2006)
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis
W. A. Cabral et al.
JOURNAL OF MEDICAL GENETICS (2006)
Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
F. Malfait et al.
JOURNAL OF MEDICAL GENETICS (2006)
Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta
Christof Land et al.
JOURNAL OF PEDIATRICS (2006)
Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: A 3-year randomized placebo-controlled trial
G Chevrel et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2006)
TGF-β regulates the mechanical properties and composition of bone matrix
G Balooch et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
One year of alendronate after one year of parathyroid hormone (1-84) for osteoporosis
DM Black et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor
M Semënov et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement
AD Letocha et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2005)
Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling
XF Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Intravenous neridronate in children with osteogenesis imperfecta:: A randomized controlled study
D Gatti et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2005)
Gene targeting in stem cells from individuals with osteogenesis imperfecta
JR Chamberlain et al.
SCIENCE (2004)
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
R Ha-Vinh et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes
JA Vranka et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway
U Schwarze et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study
R Sakkers et al.
LANCET (2004)
Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV
L Zeitlin et al.
PEDIATRICS (2003)
Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: Effect of intravenous pamidronate therapy
F Rauch et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2003)
Intravenous bisphosphonate therapy in children with osteogenesis imperfecta
MJ Falk et al.
PEDIATRICS (2003)
Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: High predictive value of the carboxyterminal propeptide of type I procollagen
JC Marini et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2003)
Intravenous neridronate in adults with osteogenesis imperfecta
S Adami et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2003)
Osteogenesis imperfecta type VII: An autosomal recessive form of brittle bone disease
LM Ward et al.
BONE (2002)
Skeletal changes in rats given daily subcutaneous injections of recombinant human parathyroid hormone (1-34) for 2 years and relevance to human safety
JL Vahle et al.
TOXICOLOGIC PATHOLOGY (2002)
Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect
FH Glorieux et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2002)
The loss of Smad3 results in a lower rate of bone formation and osteopenia through dysregulation of osteoblast differentiation and apoptosis
AJ Borton et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2001)
Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis.
RM Neer et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein
ME Brunkow et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
W Balemans et al.
HUMAN MOLECULAR GENETICS (2001)
Structural and cellular changes during bone growth in healthy children
AM Parfitt et al.
BONE (2000)
Type V osteogenesis imperfecta: A new form of brittle bone disease
FH Glorieux et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2000)
Static and dynamic bone histomorphometry in children with osteogenesis imperfecta
F Rauch et al.
BONE (2000)
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains
RL Slayton et al.
MATRIX BIOLOGY (2000)