Associated Papers
Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO).
Lynch L et al.
Bone, 2026
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease.
Righini M et al.
Journal of Nephrology, 2025
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.
Yaylacioglu Tuncay F et al.
Investigative Ophthalmology & Visual Science, 2025
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
van der Ende S et al.
Investigative Ophthalmology & Visual Science, 2025
Idiopathic juvenile osteoporosis-a polygenic disorder?
Wade E et al.
Jbmr Plus, 2024
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.
Garcia-Giralt N et al.
Human Genomics, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester JAN et al.
Npj Genomic Medicine, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.
Costantini A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
On the association between Chiari malformation type 1, bone mineral density and bone related genes.
Martínez-Gil N et al.
Bone Reports, 2022
Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.
Garcia-Giralt N et al.
Genes, 2022
Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass.
Rocca MS et al.
International Journal of Molecular Sciences, 2021
More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A.
Caetano da Silva C et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP).
Stürznickel J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Influence of LRP5 (rs556442) polymorphism on insulin resistance in healthy Iranian children and adolescents
Montazeri-Nafafabady N et al.
Turkish Journal of Medical Sciences, 2019
Genetics of polycystic liver diseases.
Lee-Law PY et al.
Current Opinion in Gastroenterology, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
Wills ES et al.
Human Molecular Genetics, 2017
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
Bardai G 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
LRP5 variants may contribute to ADPKD.
Cnossen WR et al.
European Journal of Human Genetics : Ejhg, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.
Rauch F et al.
Calcified Tissue International, 2014
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.
Korvala J et al.
Bmc Medical Genetics, 2012
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.
Saarinen A et al.
Clinical Endocrinology, 2010
Treatment and management of osteoporosis-pseudoglioma syndrome.
Levasseur R
Expert Review of Endocrinology & Metabolism, 2008
The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.
Balemans W et al.
Endocrinology, 2007
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.
Hartikka H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men.
Koh JM et al.
Journal of Korean Medical Science, 2004