Related references
Note: Only part of the references are listed.Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)
Julian Stuerznickel et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2021)
Multiscale bone quality analysis in osteoarthritic knee joints reveal a role of the mechanosensory osteocyte network in osteophytes
Gustavo Davi Rabelo et al.
SCIENTIFIC REPORTS (2020)
Management of Osteogenesis Imperfecta
Stuart H. Ralston et al.
FRONTIERS IN ENDOCRINOLOGY (2020)
VarFish: comprehensive DNA variant analysis for diagnostics and research
Manuel Holtgrewe et al.
NUCLEIC ACIDS RESEARCH (2020)
Large osteocyte lacunae in iliac crest infantile bone are not associated with impaired mineral distribution or signs of osteocytic osteolysis
Nico Maximilian Jandl et al.
BONE (2020)
MutationDistiller: user-driven identification of pathogenic DNA variants
Daniela Hombach et al.
NUCLEIC ACIDS RESEARCH (2019)
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Shahida Moosa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Nosology and classification of genetic skeletal disorders: 2019 revision
Geert R. Mortier et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
Wnt-β-catenin signalling in liver development, health and disease
Maria J. Perugorria et al.
NATURE REVIEWS GASTROENTEROLOGY & HEPATOLOGY (2019)
Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy
Katarina Lindahl et al.
BONE (2018)
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
Mathilde Doyard et al.
JOURNAL OF MEDICAL GENETICS (2018)
Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation
Stephane Blouin 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)
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia
Heeseog Kang et al.
TRANSLATIONAL RESEARCH (2017)
Osteogenesis imperfecta
Joan C. Marini et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization
Nadja Fratzl-Zelman et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)
The Anti-Osteoanabolic Function of Sclerostin Is Blunted in Mice Carrying a High Bone Mass Mutation of Lrp5
Timur A. Yorgan et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
Osteocytes mediate the anabolic actions of canonical Wnt/β-catenin signaling in bone
Xiaolin Tu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
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)
Hyperosteoidosis and Hypermineralization in the Same Bone: Bone Tissue Analyses in a Boy with a Homozygous BMP1 Mutation
Heike Hoyer-Kuhn et al.
CALCIFIED TISSUE INTERNATIONAL (2013)
Standardized Nomenclature, Symbols, and Units for Bone Histomorphometry: A 2012 Update of the Report of the ASBMR Histomorphometry Nomenclature Committee
David W. Dempster et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2013)
New Genes in Bone Development: What's New in Osteogenesis Imperfecta
Joan C. Marini 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 C-Terminal Region Mesd Peptide Mimics Full-Length Mesd and Acts as an Inhibitor of Wnt/β-Catenin Signaling in Cancer Cells
Cuihong Lin et al.
PLOS ONE (2013)
Sclerostin Is a Locally Acting Regulator of Late-Osteoblast/Preosteocyte Differentiation and Regulates Mineralization Through a MEPE-ASARM-Dependent Mechanism
Gerald J. Atkins et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2011)
Two Structural and Functional Domains of MESD Required for Proper Folding and Trafficking of LRP5/6
Jianglei Chen et al.
STRUCTURE (2011)
Mesd Is a Universal Inhibitor of Wnt Coreceptors LRP5 and LRP6 and Blocks Wnt/β-Catenin Signaling in Cancer Cells
Wenyan Lu et al.
BIOCHEMISTRY (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations
Paul Roschger et al.
CALCIFIED TISSUE INTERNATIONAL (2008)
Lrp6 hypomorphic mutation affects bone mass through bone resorption in mice and impairs interaction with Mesd
Takuo Kubota et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2008)
Requirement for natively unstructured regions of mesoderm development candidate 2 in promoting low-density lipoprotein receptor-related protein 6 maturation
Vidyasagar Koduri et al.
BIOCHEMISTRY (2007)
Mesd binds to mature LDL-receptor-related protein-6 and antagonizes ligand binding
YH Li et al.
JOURNAL OF CELL SCIENCE (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)
Canonical Wnt signaling in differentiated osteoblasts controls osteoclast differentiation
DA Glass et al.
DEVELOPMENTAL CELL (2005)
Boca-dependent maturation of β-propeller/EGF modules in low-density lipoprotein receptor proteins
J Culi et al.
EMBO JOURNAL (2004)
Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6
SL Holmen et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2004)
The Wnt co-receptors Lrp5 and Lrp6 are essential for gastrulation in mice
OG Kelly et al.
DEVELOPMENT (2004)
Mesd encodes an LRP5/6 chaperone essential for specification of mouse embryonic polarity
JC Hsieh et al.
CELL (2003)
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)
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
YQ Gong et al.
CELL (2001)
An LDL-receptor-related protein mediates Wnt signalling in mice
KI Pinson et al.
NATURE (2000)
Share Paper
