Associated Papers
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific Reports, 2025
LRP5: A Multifaceted Co-Receptor in Development, Disease, and Therapeutic Target.
Alrefaei AF
Cells, 2025
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.
Roca-Ayats N et al.
Human Genomics, 2024
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination.
Lawrence-Paul MR et al.
Genome Medicine, 2024
LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature.
De Mattia G et al.
Archives of Osteoporosis, 2023
Inhibiting WNT secretion reduces high bone mass caused by Sost loss-of-function or gain-of-function mutations in Lrp5.
Diegel CR et al.
Bone Research, 2023
The LRP5 high-bone-mass mutation causes alveolar bone accrual with minor craniofacial alteration.
Turkkahraman H et al.
Journal of Periodontal Research, 2023
LGR4: A New Receptor Member in Endocrine and Metabolic Diseases.
Zhang N et al.
Endocrine Reviews, 2023
Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.
Zhao D et al.
Molecular Genetics and Genomics : Mgg, 2023
LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.
Whyte MP et al.
Jbmr Plus, 2023
Endocrine Functions of Sclerostin.
Riddle RC
Current Opinion in Endocrine and Metabolic Research, 2023
Osteoblast-Specific Wnt Secretion Is Required for Skeletal Homeostasis and Loading-Induced Bone Formation in Adult Mice.
Lawson LY et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy.
Huang L et al.
Genes, 2021
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2021
Aberrantly activated Wnt/β-catenin pathway co-receptors LRP5 and LRP6 regulate osteoblast differentiation in the developing coronal sutures of an Apert syndrome (Fgfr2S252W/+ ) mouse model.
Min Swe NM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Regulation of the Low-Density Lipoprotein Receptor-Related Protein LRP6 and Its Association With Disease: Wnt/β-Catenin Signaling and Beyond.
Jeong W et al.
Frontiers in Cell and Developmental Biology, 2021
Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques.
Rauner M et al.
Frontiers in Endocrinology, 2021
The Genetic Architecture of High Bone Mass.
Gregson CL et al.
Frontiers in Endocrinology, 2020
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.
Whyte MP et al.
Bone, 2019
Induction of Lrp5 HBM-causing mutations in Cathepsin-K expressing cells alters bone metabolism.
Kang KS et al.
Bone, 2019
The high bone mass phenotype of Lrp5-mutant mice is not affected by megakaryocyte depletion.
Yorgan T et al.
Biochemical and Biophysical Research Communications, 2018
Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization.
Roetzer KM et al.
Bone, 2018
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.
Pekkinen M et al.
American Journal of Medical Genetics. Part A, 2017
Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation.
Solis-Moruno M et al.
Scientific Reports, 2017
The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans.
Boudin E et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
Low-Density Lipoprotein Receptor-Related Proteins in Skeletal Development and Disease.
Yang T et al.
Physiological Reviews, 2017
Impact of gain-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) on glucose and lipid homeostasis.
Foer D et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.
Berwick DC et al.
Molecular Neurodegeneration, 2017
Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population.
Park TJ et al.
Genomics & Informatics, 2016
Low density lipoprotein receptor-related protein 5 gene polymorphisms and osteoporosis in Thai menopausal women.
Kitjaroentham A et al.
Journal of Negative Results in Biomedicine, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
High Bone Mass-Causing Mutant LRP5 Receptors Are Resistant to Endogenous Inhibitors In Vivo.
Niziolek PJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Diametrical diseases reflect evolutionary-genetic tradeoffs: Evidence from psychiatry, neurology, rheumatology, oncology and immunology.
Crespi BJ et al.
Evolution, Medicine, and Public Health, 2015
Genetics of Bone Mass in Childhood and Adolescence: Effects of Sex and Maturation Interactions.
Mitchell JA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
The Anti-Osteoanabolic Function of Sclerostin Is Blunted in Mice Carrying a High Bone Mass Mutation of Lrp5.
Yorgan TA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
LRP receptor family member associated bone disease.
Lara-Castillo N et al.
Reviews in Endocrine & Metabolic Disorders, 2015
Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5.
Alonso N et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Missense Mutations in LRP5 Associated with High Bone Mass Protect the Mouse Skeleton from Disuse- and Ovariectomy-Induced Osteopenia.
Niziolek PJ et al.
Plos One, 2015
Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians.
Arciero E et al.
Plos One, 2015
Serum levels of sclerostin, Dickkopf-1, and secreted frizzled-related protein-4 are not changed in individuals with high bone mass causing mutations in LRP5.
Simpson CA et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2014
Two single-nucleotide polymorphisms in the DKK1 gene are associated with developmental dysplasia of the hip in the Chinese Han female population.
Liu S et al.
Genetic Testing and Molecular Biomarkers, 2014
Measurement of plasma, serum, and platelet serotonin in individuals with high bone mass and mutations in LRP5.
Lee GS et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Reversing LRP5-dependent osteoporosis and SOST deficiency-induced sclerosing bone disorders by altering WNT signaling activity.
Chang MK et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.
Sarrión P et al.
Plos One, 2014
Wise regulates bone deposition through genetic interactions with Lrp5.
Ellies DL et al.
Plos One, 2014
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
Secreted and transmembrane wnt inhibitors and activators.
Cruciat CM et al.
Cold Spring Harbor Perspectives in Biology, 2013
A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.
Maupin KA et al.
Bone Research, 2013
LRP5 and LRP6 in development and disease.
Joiner DM et al.
Trends in Endocrinology and Metabolism: Tem, 2013