Related references
Note: Only part of the references are listed.Ascorbic Acid Route to the Endoplasmic Reticulum: Function and Role in Disease
Diego Pozzer et al.
ANTIOXIDANTS & REDOX SIGNALING (2021)
The evolution of the nosology of osteogenesis imperfecta
Manogari Chetty et al.
CLINICAL GENETICS (2021)
No longer a historical ailment: two cases of childhood scurvy with recommendations for bone health providers
E. D. Alten et al.
OSTEOPOROSIS INTERNATIONAL (2020)
Efficacy and safety of Romosozumab in treatment for low bone mineral density: a systematic review and meta-analysis
Sara Kaveh et al.
CLINICAL RHEUMATOLOGY (2020)
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta
Johanne Dubail et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2020)
Management of Osteogenesis Imperfecta
Stuart H. Ralston et al.
FRONTIERS IN ENDOCRINOLOGY (2020)
Stem Cell Therapy as a Treatment for Osteogenesis Imperfecta
Cecilia Gotherstrom et al.
CURRENT OSTEOPOROSIS REPORTS (2020)
The Osteocyte as the New Discovery of Therapeutic Options in Rare Bone Diseases
Janak L. Pathak et al.
FRONTIERS IN ENDOCRINOLOGY (2020)
Role of the renin-angiotensin-aldosterone system in bone metabolism
Caiyan Mo et al.
JOURNAL OF BONE AND MINERAL METABOLISM (2020)
Targeting the RANKL/RANK/OPG Axis for Cancer Therapy
Jie Ming et al.
FRONTIERS IN ONCOLOGY (2020)
Osteoclast Signal Transduction During Bone Metastasis Formation
David S. Gyori et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
Fleur S. van Dijk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Denosumab for Effective Tumor Size Reduction in Patients With Giant Cell Tumors of the Bone: A Systematic Review and Meta-Analysis
Josef Yayan
CANCER CONTROL (2020)
Camurati-Engelmann Disease
Wim Van Hul et al.
CALCIFIED TISSUE INTERNATIONAL (2019)
Pro-inflammatory Cytokines and Osteocytes
Miao Zhou et al.
CURRENT OSTEOPOROSIS REPORTS (2019)
A novel missense mutation in P4HB causes mild osteogenesis imperfecta
Lujiao Li et al.
BIOSCIENCE REPORTS (2019)
Glucocorticoid-induced osteoporosis update
Giovanni Adami et al.
CURRENT OPINION IN RHEUMATOLOGY (2019)
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Shahida Moosa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Off-label uses of denosumab in metabolic bone diseases
Stergios A. Polyzos et al.
BONE (2019)
Effect of Anti-TGF-β Treatment in a Mouse Model of Severe Osteogenesis Imperfecta
Josephine T. Tauer et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2019)
Glucocorticoid-induced osteoporosis: from clinical trials to clinical practice
Giovanni Adami et al.
THERAPEUTIC ADVANCES IN MUSCULOSKELETAL DISEASE (2019)
Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research
Josephine T. Tauer et al.
JBMR PLUS (2019)
Osteonecrosis of the Jaw and Rebound Hypercalcemia in Young People Treated With Denosumab for Giant Cell Tumor of Bone
Suma Uday et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
Mathilde Doyard et al.
JOURNAL OF MEDICAL GENETICS (2018)
Glucocorticoids Are Associated with an Increased Risk for Vertebral Fracture in Patients with Rheumatoid Arthritis
Dam Kim et al.
JOURNAL OF RHEUMATOLOGY (2018)
Juvenile Paget disease
Stergios A. Polyzos et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2018)
Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders
Ernesto Canalis
METABOLISM-CLINICAL AND EXPERIMENTAL (2018)
Denosumab in the treatment of glucocorticoid-induced osteoporosis
Ilke Coskun Benlidayi
RHEUMATOLOGY INTERNATIONAL (2018)
Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18
Ting Chen et al.
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2018)
Loss of Functional Osteoprotegerin: More Than a Skeletal Problem
Corinna Grasemann et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
PTHrP(12-48) Modulates the Bone Marrow Microenvironment and Suppresses Human Osteoclast Differentiation and Lifespan
Archana Kamalakar et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2017)
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect
Emma A. Webb et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome
Sophia Sakka et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group
Calvin C. Wu et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis
Kyu Sang Joeng et al.
JOURNAL OF CLINICAL INVESTIGATION (2017)
Sclerostin is a possible candidate marker of arterial stiffness: Results from a cohort study in Catania
Agostino Gaudio et al.
MOLECULAR MEDICINE REPORTS (2017)
Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility
Riikka E. Makitie et al.
CURRENT OSTEOPOROSIS REPORTS (2017)
Osteogenesis imperfecta
Joan C. Marini et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
Sclerostin antibodies in osteoporosis: latest evidence and therapeutic potential
Michael R. McClung
THERAPEUTIC ADVANCES IN MUSCULOSKELETAL DISEASE (2017)
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
Roel Nusse et al.
CELL (2017)
Role and mechanism of action of sclerostin in bone
Jesus Delgado-Calle et al.
BONE (2017)
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery
Aline Verstraeten et al.
HUMAN MUTATION (2016)
LGR4 is a receptor for RANKL and negatively regulates osteoclast differentiation and bone resorption
Jian Luo et al.
NATURE MEDICINE (2016)
Intracellular mechanisms of molecular recognition and sorting for transport of large extracellular matrix molecules
Yoshihiro Ishikawa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Uschi Lindert et al.
NATURE COMMUNICATIONS (2016)
Bisphosphonate therapy for osteogenesis imperfecta
Kerry Dwan et al.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS (2016)
Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC
Roberto Mendoza-Londono 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)
Quantifying the osteocyte network in the human skeleton
Pascal R. Buenzli et al.
BONE (2015)
Biology of Bone Tissue: Structure, Function, and Factors That Influence Bone Cells
Rinaldo Florencio-Silva et al.
BIOMED RESEARCH INTERNATIONAL (2015)
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation
Maria Descartes et al.
CLINICAL DYSMORPHOLOGY (2014)
The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations
Kyu Sang Joeng et al.
HUMAN MOLECULAR GENETICS (2014)
Denosumab Treatment for Juvenile Paget's Disease: Results From Two Adult Patients With Osteoprotegerin Deficiency (Balkan Mutation in the TNFRSF11B Gene)
Stergios A. Polyzos et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Elimination of Pain and Improvement of Exercise Capacity in Camurati-Engelmann Disease With Losartan
Ahila Ayyavoo et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta
Ingo Grafel et al.
NATURE MEDICINE (2014)
Nitric oxide signaling in mechanical adaptation of bone
J. Klein-Nulend et al.
OSTEOPOROSIS INTERNATIONAL (2014)
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
Shawna M. Pyott et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in WNT1 Cause Different Forms of Bone Fragility
Katharina Keupp et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Increased Fracture Risk and Low Bone Mineral Density in Patients with Loeys-Dietz Syndrome
Eric W. Tan et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with HajduCheney syndrome and a patient with serpentine fibula polycystic kidney syndrome
Yoko Narumi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Clinical and Molecular Analysis in Families With Autosomal Recessive Osteogenesis Imperfecta Identifies Mutations in Five Genes and Suggests Genotype-Phenotype Correlations
Jose A. Caparros-Martin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
The Osteocyte: An Endocrine Cell . . . and More
Sarah L. Dallas et al.
ENDOCRINE REVIEWS (2013)
Effects of RANK-Ligand Antibody (Denosumab) Treatment on Bone Turnover Markers in a Girl With Juvenile Paget's Disease
Corinna Grasemann et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
WNT signaling in bone homeostasis and disease: from human mutations to treatments
Roland Baron et al.
NATURE 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)
Prevalence of oral glucocorticoid usage in the United States: A general population perspective
Robert A. Overman et al.
ARTHRITIS CARE & RESEARCH (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)
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)
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
Johanna Korvala et al.
BMC MEDICAL GENETICS (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)
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
Jutta Becker et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
Matthew L. Warman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
Bertrand Isidor et al.
NATURE GENETICS (2011)
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Michael A. Simpson et al.
NATURE GENETICS (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)
Activation of β-catenin signaling in MLO-Y4 osteocytic cells versus 2T3 osteoblastic cells by fluid flow shear stress and PGE2: Implications for the study of mechanosensation in bone
Mohamed A. Kamel et al.
BONE (2010)
Juvenile paget disease: Life-long features of a mildly affected young woman
Deborah S. Golob et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
Loading-related increases in prostaglandin production in cores of adult canine cancellous bone in vitro: A role for prostacyclin in adaptive bone remodeling?
Simon C.F. Rawlinson et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
Mechanical Induction of PGE2 in Osteocytes Blocks Glucocorticoid-Induced Apoptosis Through Both the β-Catenin and PKA Pathways
Yukiko Kitase et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
Increased Sclerostin Serum Levels Associated with Bone Formation and Resorption Markers in Patients with Immobilization-Induced Bone Loss
Agostino Gaudio et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Wnt signal transduction pathways
Yuko Komiya et al.
Organogenesis (2010)
PPIB Mutations Cause Severe Osteogenesis Imperfecta
Fleur S. van Dijk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Collagen Structure and Stability
Matthew D. Shoulders et al.
ANNUAL REVIEW OF BIOCHEMISTRY (2009)
RANKL inhibition for the management of patients with benign metabolic bone disorders
Athanasios D. Anastasilakis et al.
EXPERT OPINION ON INVESTIGATIONAL DRUGS (2009)
Functions of RANKL/RANK/OPG in bone modeling and remodeling
Brendan F. Boyce et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2008)
The association of Notch2 and NF-κB accelerates RANKL-induced osteoclastogenesis
Hidefumi Fukushima et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Notch signaling maintains bone marrow mesenchymal progenitors by suppressing osteoblast differentiation
Matthew J. Hilton et al.
NATURE MEDICINE (2008)
Structural basis of sequence-specific collagen recognition by SPARC
Erhard Hohenester et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
Wayne A. Cabral et al.
NATURE GENETICS (2007)
CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta
Roy Morello et al.
CELL (2006)
Bone cell responses to high-frequency vibration stress: does the nucleus oscillate within the cytoplasm?
Rommel G. Bacabac et al.
FASEB JOURNAL (2006)
Osteocyte apoptosis is induced by weightlessness in mice and precedes osteoclast recruitment and bone loss
JI Aguirre et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2006)
Bone measurements by peripheral quantitative computed tomography (pQCT) in children with cerebral palsy
T Binkley et al.
JOURNAL OF PEDIATRICS (2005)
Self-assembled RANK induces osteoclastogenesis ligand-independently
K Kanazawa et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2005)
Mechanical stimulation prevents osteocyte apoptosis: requirement of integrins, Src kinases, and ERKs
LI Plotkin et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2005)
SOST/sclerostin, an osteocyte-derived negative regulator of bone formation
RL Bezooijen et al.
CYTOKINE & GROWTH FACTOR REVIEWS (2005)
Wnt/β-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis
TF Day et al.
DEVELOPMENTAL CELL (2005)
Shear stress inhibits while disuse promotes osteocyte apoptosis
A Bakker et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (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)
Ultrastructure of the osteocyte process and its pericellular matrix
LD You et al.
ANATOMICAL RECORD PART A-DISCOVERIES IN MOLECULAR CELLULAR AND EVOLUTIONARY BIOLOGY (2004)
Wnt signaling in osteoblasts and bone diseases
JJ Westendorf et al.
GENE (2004)
Disuse and deconditioning in chronic low back pain: concepts and hypotheses on contributing mechanisms
JA Verbunt et al.
EUROPEAN JOURNAL OF PAIN (2003)
Osteoprotegerin deficiency and juvenile Paget's disease
MP Whyte et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
High bone density due to a mutation in LDL-receptor-related protein 5
LM Boyden et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
YQ Gong et al.
CELL (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)
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis
AE Hughes et al.
NATURE GENETICS (2000)