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Title
New Insights Into Monogenic Causes of Osteoporosis
Authors
Keywords
-
Journal
Frontiers in Endocrinology
Volume 10, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2019-02-25
DOI
10.3389/fendo.2019.00070
References
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Note: Only part of the references are listed.- Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
- (2018) Alice Costantini et al. CALCIFIED TISSUE INTERNATIONAL
- Bone Morbidity and Recovery in Children With Acute Lymphoblastic Leukemia: Results of a Six-Year Prospective Cohort Study
- (2018) Leanne M Ward et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
- (2018) Tim Cundy et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling
- (2018) Riikka E Mäkitie et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Inducible Wnt16 inactivation: WNT16 regulates cortical bone thickness in adult mice
- (2018) Claes Ohlsson et al. JOURNAL OF ENDOCRINOLOGY
- FAM46Amutations are responsible for autosomal recessive osteogenesis imperfecta
- (2018) Mathilde Doyard et al. JOURNAL OF MEDICAL GENETICS
- Juvenile Paget disease
- (2018) Stergios A. Polyzos et al. METABOLISM-CLINICAL AND EXPERIMENTAL
- Circulating microRNAs as potential diagnostic biomarkers for osteoporosis
- (2018) Abdullah Y. Mandourah et al. Scientific Reports
- Association Between Inhaled Corticosteroid Use and Bone Fracture in Children With Asthma
- (2018) Natasha Gray et al. JAMA Pediatrics
- Regulation of Bone Metabolism by microRNAs
- (2018) Hanna Taipaleenmäki Current Osteoporosis Reports
- Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
- (2018) Alice Costantini et al. Frontiers in Endocrinology
- Plastin 3 influences bone homeostasis through regulation of osteoclast activity
- (2018) Janine Neugebauer et al. HUMAN MOLECULAR GENETICS
- Coupling of bone resorption and formation by RANKL reverse signalling
- (2018) Yuki Ikebuchi et al. NATURE
- DIAGNOSIS OF ENDOCRINE DISEASE: Bone turnover markers: are they clinically useful?
- (2017) Richard Eastell et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Monoclonal antibodies for treating osteoporosis
- (2017) Maria Felicia Faienza et al. EXPERT OPINION ON BIOLOGICAL THERAPY
- PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations
- (2017) Peter Kannu et al. Hormone Research in Paediatrics
- PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
- (2017) Anders J Kämpe et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Overview of Fracture Prediction Tools
- (2017) John A. Kanis et al. JOURNAL OF CLINICAL DENSITOMETRY
- Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3
- (2017) Katherine Wesseling-Perry et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Changes of Circulating MicroRNAs in Response to Treatment With Teriparatide or Denosumab in Postmenopausal Osteoporosis
- (2017) Athanasios D Anastasilakis et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis
- (2017) Kyu Sang Joeng et al. JOURNAL OF CLINICAL INVESTIGATION
- The Roles of Actin-Binding Domains 1 and 2 in the Calcium-Dependent Regulation of Actin Filament Bundling by Human Plastins
- (2017) Christopher L. Schwebach et al. JOURNAL OF MOLECULAR BIOLOGY
- Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis
- (2017) John P Kemp et al. NATURE GENETICS
- PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
- (2017) A. J. Kämpe et al. OSTEOPOROSIS INTERNATIONAL
- Defective WNT signaling associates with bone marrow fibrosis—a cross-sectional cohort study in a family with WNT1 osteoporosis
- (2017) R. E. Mäkitie et al. OSTEOPOROSIS INTERNATIONAL
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
- (2017) Beryl B. Cummings et al. Science Translational Medicine
- Long-Term Bisphosphonate Therapy in Osteogenesis Imperfecta
- (2017) A. Biggin et al. Current Osteoporosis Reports
- Osteocyte Mechanobiology
- (2017) Yuhei Uda et al. Current Osteoporosis Reports
- Osteogenesis imperfecta
- (2017) Joan C. Marini et al. Nature Reviews Disease Primers
- Efficacy of Bisphosphonates on Bone Mineral Density and Fracture Rate in Patients With Osteogenesis Imperfecta
- (2016) Chang Gui Shi et al. AMERICAN JOURNAL OF THERAPEUTICS
- Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations
- (2016) Yi Liu et al. CLINICA CHIMICA ACTA
- AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY CLINICAL PRACTICE GUIDELINES FOR THE DIAGNOSIS AND TREATMENT OF POSTMENOPAUSAL OSTEOPOROSIS — 2016
- (2016) Pauline M. Camacho et al. Endocrine Practice
- Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes
- (2016) F. Taylan et al. HORMONE AND METABOLIC RESEARCH
- Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults
- (2016) Riikka E Mäkitie et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
- (2016) Fulya Taylan et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Teriparatide Treatment in Patients withWNT1orPLS3Mutation-Related Early-Onset Osteoporosis - A Pilot Study
- (2016) Ville-Valtteri Välimäki et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Circulating microRNA Signatures in Patients With Idiopathic and Postmenopausal Osteoporosis and Fragility Fractures
- (2016) Roland Kocijan et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Osteogenesis imperfecta
- (2016) Antonella Forlino et al. LANCET
- SPARC/osteonectin in mineralized tissue
- (2016) Emilie M. Rosset et al. MATRIX BIOLOGY
- Circulating microRNAs as novel biomarkers for bone diseases – Complex signatures for multifactorial diseases?
- (2016) Matthias Hackl et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Merck & Co. drops osteoporosis drug odanacatib
- (2016) Asher Mullard NATURE REVIEWS DRUG DISCOVERY
- Osteocytic signalling pathways as therapeutic targets for bone fragility
- (2016) Lilian I. Plotkin et al. Nature Reviews Endocrinology
- Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease
- (2016) Pelin O. Simsek Kiper et al. NEW ENGLAND JOURNAL OF MEDICINE
- Romosozumab Treatment in Postmenopausal Women with Osteoporosis
- (2016) Felicia Cosman et al. NEW ENGLAND JOURNAL OF MEDICINE
- Osteogenesis imperfecta in children and adolescents—new developments in diagnosis and treatment
- (2016) P. Trejo et al. OSTEOPOROSIS INTERNATIONAL
- Deep sequencing of 10,000 human genomes
- (2016) Amalio Telenti et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Carcinogenicity risk assessment of romosozumab: A review of scientific weight-of-evidence and findings in a rat lifetime pharmacology study
- (2016) Luc Chouinard et al. REGULATORY TOXICOLOGY AND PHARMACOLOGY
- Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments
- (2016) Fernando Rivadeneira et al. TRENDS IN ENDOCRINOLOGY AND METABOLISM
- An overview of microRNAs
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- Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC
- (2015) Roberto Mendoza-Londono 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
- Nosology and classification of genetic skeletal disorders: 2015 revision
- (2015) Luisa Bonafe et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The genetics of osteoporosis
- (2015) G. R. Clark et al. BRITISH MEDICAL BULLETIN
- Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions
- (2015) Ghalib Bardai et al. CALCIFIED TISSUE INTERNATIONAL
- Notum Is Required for Neural and Head Induction via Wnt Deacylation, Oxidation, and Inactivation
- (2015) Xinjun Zhang et al. DEVELOPMENTAL CELL
- Mutations in patients with osteogenesis imperfecta from consanguineous Indian families
- (2015) Joshi Stephen et al. European Journal of Medical Genetics
- New Genetic Forms of Childhood-Onset Primary Osteoporosis
- (2015) Anders J. Kämpe et al. Hormone Research in Paediatrics
- Microarc-oxidized titanium surfaces functionalized with microRNA-21-loaded chitosan/hyaluronic acid nanoparticles promote the osteogenic differentiation of human bone marrow mesenchymal stem cells
- (2015) Yimin Zhao et al. International Journal of Nanomedicine
- A Novel Splice Mutation inPLS3Causes X-linked Early Onset Low-Turnover Osteoporosis
- (2015) Christine M Laine et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Incident Vertebral Fractures and Risk Factors in the First Three Years Following Glucocorticoid Initiation Among Pediatric Patients With Rheumatic Disorders
- (2015) Claire MA LeBlanc et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Two Rare Mutations in theCOL1A2Gene Associate With Low Bone Mineral Density and Fractures in Iceland
- (2015) Unnur Styrkarsdottir et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessiveWNT1mutations
- (2015) Kimberly A Aldinger et al. JOURNAL OF MEDICAL GENETICS
- Notum deacylates Wnt proteins to suppress signalling activity
- (2015) Satoshi Kakugawa et al. NATURE
- Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
- (2015) Hou‐Feng Zheng et al. NATURE
- Downregulation of MicroRNA-152 contributes to high expression of DKK1 in multiple myeloma
- (2015) Yinyin Xu et al. RNA Biology
- Biology of Bone Tissue: Structure, Function, and Factors That Influence Bone Cells
- (2015) Rinaldo Florencio-Silva et al. Biomed Research International
- Identification of miR-194-5p as a potential biomarker for postmenopausal osteoporosis
- (2015) Jia Meng et al. PeerJ
- Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
- (2014) F.S. Van Dijk et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Long-term safety and efficacy of microRNA-targeted therapy in chronic hepatitis C patients
- (2014) Meike H. van der Ree et al. ANTIVIRAL RESEARCH
- Plasma miRNA levels correlate with sensitivity to bone mineral density in postmenopausal osteoporosis patients
- (2014) Hongqiu Li et al. BIOMARKERS
- Heritability of Bone Mineral Density in a Multivariate Family-Based Study
- (2014) Nerea Hernandez-de Sosa et al. CALCIFIED TISSUE INTERNATIONAL
- Association Study of the let-7 miRNA-Complementary Site Variant in the 3' Untranslated Region of the KRAS Gene in Stage III Colon Cancer (NCCTG N0147 Clinical Trial)
- (2014) D. Sha et al. CLINICAL CANCER RESEARCH
- Five Freely Circulating miRNAs and Bone Tissue miRNAs Are Associated With Osteoporotic Fractures
- (2014) Claudine Seeliger et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics
- (2014) Somayyeh Fahiminiya et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2013 Pediatric Official Positions
- (2014) Nick Bishop et al. JOURNAL OF CLINICAL DENSITOMETRY
- Suppressed Bone Turnover in Obesity: A Link to Energy Metabolism? A Case-Control Study
- (2014) Heli Viljakainen et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- High Adiposity and Serum Leptin Accompanied by Altered Bone Turnover Markers in Severe Juvenile Idiopathic Arthritis
- (2014) K. P. Markula-Patjas et al. JOURNAL OF RHEUMATOLOGY
- Osteoblast-derived WNT16 represses osteoclastogenesis and prevents cortical bone fragility fractures
- (2014) Sofia Movérare-Skrtic et al. NATURE MEDICINE
- Regulation of microRNA biogenesis
- (2014) Minju Ha et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Romosozumab in Postmenopausal Women with Low Bone Mineral Density
- (2014) Michael R. McClung et al. NEW ENGLAND JOURNAL OF MEDICINE
- WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
- (2013) Shawna M. Pyott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in WNT1 Cause Different Forms of Bone Fragility
- (2013) Katharina Keupp et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The promotion of bone regeneration through positive regulation of angiogenic–osteogenic coupling using microRNA-26a
- (2013) Yan Li et al. BIOMATERIALS
- Inhibition of miR-92a Enhances Fracture Healing via Promoting Angiogenesis in a Model of Stabilized Fracture in Young Mice
- (2013) Koichi Murata et al. JOURNAL OF BONE AND MINERAL RESEARCH
- New Genes in Bone Development: What's New in Osteogenesis Imperfecta
- (2013) Joan C. Marini et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype
- (2013) Eissa Faqeih et al. JOURNAL OF MEDICAL GENETICS
- Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
- (2013) Unnur Styrkarsdottir et al. NATURE
- WNT signaling in bone homeostasis and disease: from human mutations to treatments
- (2013) Roland Baron et al. NATURE MEDICINE
- Osteopetrosis: genetics, treatment and new insights into osteoclast function
- (2013) Cristina Sobacchi et al. Nature Reviews Endocrinology
- Causes, mechanisms and management of paediatric osteoporosis
- (2013) Outi Mäkitie Nature Reviews Rheumatology
- PLS3 Mutations in X-Linked Osteoporosis with Fractures
- (2013) Fleur S. van Dijk et al. NEW ENGLAND JOURNAL OF MEDICINE
- WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
- (2013) Christine M. Laine et al. NEW ENGLAND JOURNAL OF MEDICINE
- Boar seminal plasma exosomes: Effect on sperm function and protein identification by sequencing
- (2013) Lidia L. Piehl et al. THERIOGENOLOGY
- miR-30e reciprocally regulates the differentiation of adipocytes and osteoblasts by directly targeting low-density lipoprotein receptor-related protein 6
- (2013) J Wang et al. Cell Death & Disease
- 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
- 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
- Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
- (2012) Karol Estrada et al. NATURE GENETICS
- Wnt5a-Ror2 signaling between osteoblast-lineage cells and osteoclast precursors enhances osteoclastogenesis
- (2012) Kazuhiro Maeda et al. NATURE MEDICINE
- miR-214 targets ATF4 to inhibit bone formation
- (2012) Xiaogang Wang et al. NATURE MEDICINE
- Bone turnover markers: use in osteoporosis
- (2012) Kim Naylor et al. Nature Reviews Rheumatology
- Osteoblastogenesis regulation signals in bone remodeling
- (2012) C. Zuo et al. OSTEOPOROSIS INTERNATIONAL
- MiR-133a in Human Circulating Monocytes: A Potential Biomarker Associated with Postmenopausal Osteoporosis
- (2012) Yang Wang 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
- WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk
- (2012) Hou-Feng Zheng et al. PLoS Genetics
- Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
- (2011) Jutta Becker et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Effect of Oral Glucose Tolerance Test on Serum Osteocalcin and Bone Turnover Markers in Young Adults
- (2011) P. M. Paldánius et al. CALCIFIED TISSUE INTERNATIONAL
- Zoledronic Acid Treatment in Children with Osteogenesis Imperfecta
- (2011) Ilkka Vuorimies et al. Hormone Research in Paediatrics
- COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta
- (2011) Katarina Lindahl et al. HUMAN MUTATION
- Effects of miR-335-5p in modulating osteogenic differentiation by specifically downregulating Wnt antagonist DKK1
- (2011) Jin Zhang et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Bone mineral accrual from 8 to 30 years of age: An estimation of peak bone mass
- (2011) Adam DG Baxter-Jones et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Proteomic characterization of biogenesis and functions of matrix vesicles released from mineralizing human osteoblast-like cells
- (2011) Cyril Thouverey et al. Journal of Proteomics
- Prevalence of Vertebral Compression Fractures and Associated Factors in Children and Adolescents with Severe Juvenile Idiopathic Arthritis
- (2011) K. P. MARKULA-PATJAS et al. JOURNAL OF RHEUMATOLOGY
- Genome-wide Significant Associations for Variants With Minor Allele Frequency of 5% or Less—An Overview: A HuGE Review
- (2010) Orestis A. Panagiotou et al. AMERICAN JOURNAL OF EPIDEMIOLOGY
- FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?
- (2010) Ranad Shaheen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Noncanonical Wnt signaling in vertebrate development, stem cells, and diseases
- (2010) Ryohichi Sugimura et al. BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS
- Genetics of Osteoporosis
- (2010) Stuart H. Ralston et al. ENDOCRINE REVIEWS
- Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia
- (2009) Anne Saarinen et al. CLINICAL ENDOCRINOLOGY
- Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation
- (2009) Florian Witte et al. GENE EXPRESSION PATTERNS
- Genomewide Association Studies and Human Disease
- (2009) John Hardy et al. NEW ENGLAND JOURNAL OF MEDICINE
- Denosumab for Prevention of Fractures in Postmenopausal Women with Osteoporosis
- (2009) Steven R. Cummings et al. NEW ENGLAND JOURNAL OF MEDICINE
- A microRNA signature for a BMP2-induced osteoblast lineage commitment program
- (2008) Z. Li et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy
- (2008) G. E. Oprea et al. SCIENCE
- Osteocyte Shape Is Dependent on Actin Filaments and Osteocyte Processes Are Unique Actin-Rich Projections
- (2006) Kayo Tanaka-Kamioka et al. JOURNAL OF BONE AND MINERAL RESEARCH
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