MECHANISMS IN ENDOCRINOLOGY: Genetics of human bone formation

A novel sequence variant in SFRP4 causing Pyle disease

(2017) Chelna Galada et al.   JOURNAL OF HUMAN GENETICS

Non lethal Raine syndrome and differential diagnosis

(2016) Siham Chafai Elalaoui et al.   European Journal of Medical Genetics

Rare EN1 Variants and Pediatric Bone Mass

(2016) Jonathan A Mitchell et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

(2016) Igor Fijalkowski et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Genetic control of bone mass

(2016) Eveline Boudin et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

LGR4 is a receptor for RANKL and negatively regulates osteoclast differentiation and bone resorption

(2016) Jian Luo et al.   NATURE MEDICINE

Romosozumab — getting there but not quite yet

(2016) Socrates E. Papapoulos   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

Connexins in the skeleton

(2016) Joseph P. Stains et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

(2016) Unnur Styrkarsdottir et al.   Nature Communications

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

(2016) Uschi Lindert et al.   Nature Communications

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

(2016) Wayne A. Cabral et al.   PLoS Genetics

Genetics of osteoporosis: searching for candidate genes for bone fragility

(2016) Manuela G. M. Rocha-Braz et al.   Archives of Endocrinology Metabolism

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

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

(2015) Ana Carolina Acevedo et al.   BMC Medical Genetics

IFITM5 mutations and osteogenesis imperfecta

(2015) Nobutaka Hanagata   JOURNAL OF BONE AND MINERAL METABOLISM

A Novel Splice Mutation inPLS3Causes X-linked Early Onset Low-Turnover Osteoporosis

(2015) Christine M Laine et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Methylation of BoneSOST, Its mRNA, and Serum Sclerostin Levels Correlate Strongly With Fracture Risk in Postmenopausal Women

(2015) Sjur Reppe 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

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture

(2015) Hou‐Feng Zheng et al.   NATURE

A look behind the scenes: the risk and pathogenesis of primary osteoporosis

(2015) Gretl Hendrickx et al.   Nature Reviews Rheumatology

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

(2014) F.S. Van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia

(2014) Yuka Kinoshita et al.   BONE

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

(2014) Swaminathan P. Iyer et al.   BRITISH JOURNAL OF HAEMATOLOGY

Osteogenesis imperfecta due to mutations in non-collagenous genes

(2014) Joan C. Marini et al.   CURRENT OPINION IN PEDIATRICS

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

(2014) Alireza Moayyeri et al.   HUMAN MOLECULAR GENETICS

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

(2014) Somayyeh Fahiminiya et al.   JOURNAL OF BONE AND MINERAL RESEARCH

MicroRNAs and post-transcriptional regulation of skeletal development

(2014) Beatriz Gámez et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Romosozumab in Postmenopausal Women with Low Bone Mineral Density

(2014) Michael R. McClung et al.   NEW ENGLAND JOURNAL OF MEDICINE

Disruption of Lrp4 function by genetic deletion or pharmacological blockade increases bone mass and serum sclerostin levels

(2014) Ming-Kang Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) John P. Kemp et al.   PLoS Genetics

Sclerosing Bone Dysplasias: Leads Toward Novel Osteoporosis Treatments

(2014) Igor Fijalkowski et al.   Current Osteoporosis Reports

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

Genome-wide association study for radiographic vertebral fractures: A potential role for the 16q24 BMD locus

(2013) Ling Oei et al.   BONE

Bone Collagen: New Clues to Its Mineralization Mechanism from Recessive Osteogenesis Imperfecta

(2013) David R. Eyre et al.   CALCIFIED TISSUE INTERNATIONAL

Osteocyte-Driven Bone Remodeling

(2013) Teresita Bellido   CALCIFIED TISSUE INTERNATIONAL

Epigenetic mechanisms in bone

(2013) Peter Vrtačnik et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

(2013) Joan C. Marini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Serum Dickkopf 1 Levels in Sclerostin Deficiency

(2013) A. H. van Lierop et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

(2013) Ling Oei et al.   JOURNAL OF MEDICAL GENETICS

Mutations in WNT1 are a cause of osteogenesis imperfecta

(2013) Somayyeh Fahiminiya 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

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

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

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

A brilliant breakthrough in OI type V

(2013) S. Lazarus et al.   OSTEOPOROSIS INTERNATIONAL

The Role of Osteocytes in Targeted Bone Remodeling: A Mathematical Model

(2013) Jason M. Graham et al.   PLoS One

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

(2013) Ying Hu et al.   PLoS One

Autoinflammatory Bone Diseases

(2013) Sara M. Stern et al.   RHEUMATIC DISEASE CLINICS OF NORTH AMERICA

The role of extracellular modulators of canonical Wnt signaling in bone metabolism and diseases

(2013) Eveline Boudin et al.   SEMINARS IN ARTHRITIS AND RHEUMATISM

Development of the Endochondral Skeleton

(2013) F. Long et al.   Cold Spring Harbor Perspectives in Biology

MicroRNA Functions in Osteogenesis and Dysfunctions in Osteoporosis

(2013) Andre J. van Wijnen et al.   Current Osteoporosis Reports

Role of DNA methylation in the regulation of the RANKL-OPG system in human bone

(2012) Jesús Delgado-Calle et al.   Epigenetics

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

(2012) Maria Trinidad Puig-Hervás et al.   HUMAN MUTATION

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

The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins

(2012) Hiroyuki O. Ishikawa et al.   PLoS One

Secreted Kinase Phosphorylates Extracellular Proteins That Regulate Biomineralization

(2012) V. S. Tagliabracci et al.   SCIENCE

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

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

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

(2011) Fleur S van Dijk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

(2011) Su Jin Kim et al.   HUMAN GENETICS

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

Bone Overgrowth-associated Mutations in theLRP4Gene Impair Sclerostin Facilitator Function

(2011) Olivier Leupin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

DNA methylation contributes to the regulation of sclerostin expression in human osteocytes

(2011) Jesús Delgado-Calle et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

(2011) H. Glantschnig et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Genome-Wide Association Study Using Extreme Truncate Selection Identifies Novel Genes Affecting Bone Mineral Density and Fracture Risk

(2011) Emma L. Duncan et al.   PLoS Genetics

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

(2010) Pablo Lapunzina et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Management of osteoporosis in a pre-menopausal woman

(2010) Ashok K. Bhalla   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Sclerostin: Current Knowledge and Future Perspectives

(2010) M. J. C. Moester et al.   CALCIFIED TISSUE INTERNATIONAL

Genetics of Osteoporosis

(2010) Stuart H. Ralston et al.   ENDOCRINE REVIEWS

Heritable and life-style determinants of bone mineral density

(2010) Elizabeth A. Krall et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Segregation analysis and variance components analysis of bone mineral density in healthy families

(2010) René Guéguen et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

(2010) Brian P Kelley 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

Anti-DKK1 mAb (BHQ880) as a potential therapeutic agent for multiple myeloma

(2009) M. Fulciniti et al.   BLOOD

Regulation of bone formation and remodeling by G-protein-coupled receptor 48

(2009) J. Luo et al.   DEVELOPMENT

Osteopathia striata with cranial sclerosis owing to WTX gene defect

(2009) Bram Perdu et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

(2009) Fernando Rivadeneira et al.   NATURE GENETICS

TGF-β1–induced migration of bone mesenchymal stem cells couples bone resorption with formation

(2009) Yi Tang et al.   NATURE MEDICINE

Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians

(2009) F.-Y. Deng et al.   OSTEOPOROSIS INTERNATIONAL

Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis

(2008) Tie-Lin Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functions of RANKL/RANK/OPG in bone modeling and remodeling

(2008) Brendan F. Boyce et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Wnt signaling: A win for bone

(2008) Elke Piters et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

The Binding Between Sclerostin and LRP5 is Altered by DKK1 and by High-Bone Mass LRP5 Mutations

(2008) Wendy Balemans et al.   CALCIFIED TISSUE INTERNATIONAL

Progressive Ankylosis Gene (ank) Regulates Osteoblast Differentiation

(2008) Thorsten Kirsch et al.   CELLS TISSUES ORGANS

CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta

(2008) Dustin Baldridge et al.   HUMAN MUTATION

Inhibiting Dickkopf-1 (Dkk1) Removes Suppression of Bone Formation and Prevents the Development of Osteolytic Bone Disease in Multiple Myeloma

(2008) Deborah J Heath et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study

(2008) JB Richards et al.   LANCET

New sequence variants associated with bone mineral density

(2008) Unnur Styrkarsdottir et al.   NATURE GENETICS

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

(2008) Zandra A Jenkins et al.   NATURE GENETICS

Multiple Genetic Loci for Bone Mineral Density and Fractures

(2008) Unnur Styrkarsdottir et al.   NEW ENGLAND JOURNAL OF MEDICINE