相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。A novel sequence variant in SFRP4 causing Pyle disease
Chelna Galada et al.
JOURNAL OF HUMAN GENETICS (2017)
IFITM5 mutations and osteogenesis imperfecta
Nobutaka Hanagata
JOURNAL OF BONE AND MINERAL METABOLISM (2016)
Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland
Unnur Styrkarsdottir et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Non lethal Raine syndrome and differential diagnosis
Siham Chafai Elalaoui et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)
Rare EN1 Variants and Pediatric Bone Mass
Jonathan A. Mitchell et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone
Igor Fijalkowski et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Genetic control of bone mass
Eveline Boudin et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2016)
LGR4 is a receptor for RANKL and negatively regulates osteoclast differentiation and bone resorption
Jian Luo et al.
NATURE MEDICINE (2016)
Romosozumab - getting there but not quite yet
Socrates E. Papapoulos
NATURE REVIEWS ENDOCRINOLOGY (2016)
Cortical-Bone Fragility - Insights from sFRP4 Deficiency in Pyle's Disease
Pelin O. Simsek Kiper et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Romosozumab Treatment in Postmenopausal Women with Osteoporosis
F. Cosman et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Connexins in the skeleton
Joseph P. Stains et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2016)
Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures
Unnur Styrkarsdottir et al.
NATURE COMMUNICATIONS (2016)
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Uschi Lindert et al.
NATURE COMMUNICATIONS (2016)
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta
Wayne A. Cabral et al.
PLOS GENETICS (2016)
Genetics of osteoporosis: searching for candidate genes for bone fragility
Manuela G. M. Rocha-Braz et al.
ARCHIVES OF ENDOCRINOLOGY METABOLISM (2016)
TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease
Mengrui Wu et al.
BONE RESEARCH (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)
Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision
Luisa Bonafe et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations
Ana Carolina Acevedo et al.
BMC MEDICAL GENETICS (2015)
A Novel Splice Mutation in PLS3 Causes X-linked Early Onset Low-Turnover Osteoporosis
Christine M. Laine et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
Methylation of Bone SOST, Its mRNA, and Serum Sclerostin Levels Correlate Strongly With Fracture Risk in Postmenopausal Women
Sjur Reppe et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture
Hou-Feng Zheng et al.
NATURE (2015)
A look behind the scenes: the risk and pathogenesis of primary osteoporosis
Gretl Hendrickx et al.
NATURE REVIEWS RHEUMATOLOGY (2015)
Characterization of Fam20C expression in odontogenesis and osteogenesis using transgenic mice
Er-Xia Du et al.
INTERNATIONAL JOURNAL OF ORAL SCIENCE (2015)
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
F. S. Van Dijk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Genome-wide association study for radiographic vertebral fractures: A potential role for the 16q24 BMD locus
Ling Oei et al.
BONE (2014)
Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia
Yuka Kinoshita et al.
BONE (2014)
A Phase IB multicentre dose-determination study of BHQ880 in combination with anti-myeloma therapy and zoledronic acid in patients with relapsed or refractory multiple myeloma and prior skeletal-related events
Swaminathan P. Iyer et al.
BRITISH JOURNAL OF HAEMATOLOGY (2014)
Osteocyte-Driven Bone Remodeling
Teresita Bellido
CALCIFIED TISSUE INTERNATIONAL (2014)
Epigenetic mechanisms in bone
Peter Vrtacnik et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (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)
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium
Alireza Moayyeri et al.
HUMAN MOLECULAR GENETICS (2014)
Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics
Somayyeh Fahiminiya et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2014)
Serum Dickkopf 1 Levels in Sclerostin Deficiency
A. H. van Lierop et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus
Ling Oei et al.
JOURNAL OF MEDICAL GENETICS (2014)
MicroRNAs and post-transcriptional regulation of skeletal development
Beatriz Gamez et al.
JOURNAL OF MOLECULAR ENDOCRINOLOGY (2014)
Romosozumab in Postmenopausal Women with Low Bone Mineral Density
Michael R. McClung et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
A brilliant breakthrough in OI type V
S. Lazarus et al.
OSTEOPOROSIS INTERNATIONAL (2014)
Disruption of Lrp4 function by genetic deletion or pharmacological blockade increases bone mass and serum sclerostin levels
Ming-Kang Chang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Phenotypic Dissection of Bone Mineral Density Reveals Skeletal Site Specificity and Facilitates the Identification of Novel Loci in the Genetic Regulation of Bone Mass Attainment
John P. Kemp et al.
PLOS GENETICS (2014)
Sclerosing Bone Dysplasias: Leads Toward Novel Osteoporosis Treatments
Igor Fijalkowski et al.
CURRENT OSTEOPOROSIS REPORTS (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)
Bone Collagen: New Clues to Its Mineralization Mechanism from Recessive Osteogenesis Imperfecta
David R. Eyre et al.
CALCIFIED TISSUE INTERNATIONAL (2013)
New Genes in Bone Development: What's New in Osteogenesis Imperfecta
Joan C. Marini et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
Mutations in WNT1 are a cause of osteogenesis imperfecta
Somayyeh Fahiminiya et al.
JOURNAL OF MEDICAL GENETICS (2013)
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
Unnur Styrkarsdottir et al.
NATURE (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)
The Role of Osteocytes in Targeted Bone Remodeling: A Mathematical Model
Jason M. Graham et al.
PLOS ONE (2013)
A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
Ying Hu et al.
PLOS ONE (2013)
Autoinflammatory Bone Diseases
Sara M. Stern et al.
RHEUMATIC DISEASE CLINICS OF NORTH AMERICA (2013)
The role of extracellular modulators of canonical Wnt signaling in bone metabolism and diseases
Eveline Boudin et al.
SEMINARS IN ARTHRITIS AND RHEUMATISM (2013)
Development of the Endochondral Skeleton
Fanxin Long et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)
MicroRNA Functions in Osteogenesis and Dysfunctions in Osteoporosis
Andre J. van Wijnen et al.
CURRENT OSTEOPOROSIS REPORTS (2013)
Role of DNA methylation in the regulation of the RANKL-OPG system in human bone
Jesus Delgado-Calle et al.
EPIGENETICS (2012)
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
Fleur S. van Dijk et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta
Victor Martinez-Glez et al.
HUMAN MUTATION (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)
DNA Methylation Contributes to the Regulation of Sclerostin Expression in Human Osteocytes
Jesus Delgado-Calle et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2012)
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Karol Estrada et al.
NATURE GENETICS (2012)
The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins
Hiroyuki O. Ishikawa et al.
PLOS ONE (2012)
Secreted Kinase Phosphorylates Extracellular Proteins That Regulate Biomineralization
Vincent S. Tagliabracci et al.
SCIENCE (2012)
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
Jutta Becker et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
Su Jin Kim et al.
HUMAN GENETICS (2011)
Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function
Olivier Leupin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Pigment Epithelium-derived Factor (PEDF) Shares Binding Sites in Collagen with Heparin/Heparan Sulfate Proteoglycans
Atsushi Sekiya et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome
Brian P. Kelley et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2011)
A Rate-Limiting Role for Dickkopf-1 in Bone Formation and the Remediation of Bone Loss in Mouse and Primate Models of Postmenopausal Osteoporosis by an Experimental Therapeutic Antibody
Helmut Glantschnig et al.
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2011)
Genome-Wide Association Study Using Extreme Truncate Selection Identifies Novel Genes Affecting Bone Mineral Density and Fracture Risk
Emma L. Duncan et al.
PLOS 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)
Management of osteoporosis in a pre-menopausal woman
Ashok K. Bhalla
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2010)
Sclerostin: Current Knowledge and Future Perspectives
M. J. C. Moester et al.
CALCIFIED TISSUE INTERNATIONAL (2010)
Genetics of Osteoporosis
Stuart H. Ralston et al.
ENDOCRINE REVIEWS (2010)
Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect
Bram Perdu et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
Heritable and life-style determinants of bone mineral density
Elizabeth A. Krall et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
Segregation analysis and variance components analysis of bone mineral density in healthy families
René Guéguen et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians
F. -Y. Deng et al.
OSTEOPOROSIS INTERNATIONAL (2010)
PPIB Mutations Cause Severe Osteogenesis Imperfecta
Fleur S. van Dijk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Anti-DKK1 mAb (BHQ880) as a potential therapeutic agent for multiple myeloma
Mariateresa Fulciniti et al.
BLOOD (2009)
Progressive Ankylosis Gene (ank) Regulates Osteoblast Differentiation
Thorsten Kirsch et al.
CELLS TISSUES ORGANS (2009)
Regulation of bone formation and remodeling by G-protein-coupled receptor 48
Jian Luo et al.
DEVELOPMENT (2009)
Inhibiting Dickkopf-1 (Dkk1) Removes Suppression of Bone Formation and Prevents the Development of Osteolytic Bone Disease in Multiple Myeloma
Deborah J. Heath et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2009)
New sequence variants associated with bone mineral density
Unnur Styrkarsdottir et al.
NATURE GENETICS (2009)
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Zandra A. Jenkins et al.
NATURE GENETICS (2009)
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies
Fernando Rivadeneira et al.
NATURE GENETICS (2009)
TGF-β1-induced migration of bone mesenchymal stem cells couples bone resorption with formation
Yi Tang et al.
NATURE MEDICINE (2009)
Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis
Tie-Lin Yang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Functions of RANKL/RANK/OPG in bone modeling and remodeling
Brendan F. Boyce et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2008)
Wnt signaling: A win for bone
Elke Piters et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2008)
The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations
Wendy Balemans et al.
CALCIFIED TISSUE INTERNATIONAL (2008)
CRTAP and LEPRE1 Mutations in Recessive Osteogenesis Imperfecta
Dustin Baldridge et al.
HUMAN MUTATION (2008)
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study
J. B. Richards et al.
LANCET (2008)
Multiple genetic loci for bone mineral density and fractures
Unnur Styrkarsdottir et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development
M. A. Simpson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling
Wendy Balemans et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2007)
Deactivating germline mutations in LEMD3 cause osteopoikilosis and buschke-ollendorff syndrome, but not sporadic melorheostosis
Steven Mumm et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2007)
Dickkopf-1 is a master regulator of joint remodeling
Danielle Diarra et al.
NATURE MEDICINE (2007)
Brief report: Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
Aileen M. Barnes et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST
Mikhail V. Semenov et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta
Roy Morello et al.
CELL (2006)
Deletion of a single allele of the Dkk1 gene leads to an increase in bone formation and bone mass
Frederic Morvan et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2006)
The role of collagen in bone strength
S Viguet-Carrin et al.
OSTEOPOROSIS INTERNATIONAL (2006)
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome
MR Ai et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders
R Levasseur et al.
JOINT BONE SPINE (2005)
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children
H Hartikka et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2005)
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
J Hellemans et al.
NATURE GENETICS (2004)
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density
L Van Wesenbeeck et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
High bone density due to a mutation in LDL-receptor-related protein 5
LM Boyden et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease
W Balemans et al.
JOURNAL OF MEDICAL GENETICS (2002)
A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait
RD Little et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Identification and fracture outcomes of undiagnosed low bone mineral density in postmenopausal women - Results from the National Osteoporosis Risk Assessment
ES Siris et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2001)
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
YQ Gong et al.
CELL (2001)
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
E Reichenberger 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)
Acquisition of optimal bane mass in childhood and adolescence
LK Bachrach
TRENDS IN ENDOCRINOLOGY AND METABOLISM (2001)
Connexin43 deficiency causes delayed ossification, craniofacial abnormalities, and osteoblast dysfunction
F Lecanda et al.
JOURNAL OF CELL BIOLOGY (2000)
Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease
K Janssens et al.
NATURE GENETICS (2000)
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
A Kinoshita et al.
NATURE GENETICS (2000)
分享论文
