Associated Papers
Wnt family members regulating osteogenesis and their origins.
Kobayashi Y et al.
Journal of Bone and Mineral Metabolism, 2025
Dynamics of Skeletal Status under Optimized Management during Subsequent Pregnancy in Three Women with a History of Pregnancy- and Lactation-Associated Osteoporosis Carrying pathogenic Variants in WNT1 and LRP5.
Stürznickel J et al.
Jbmr Plus, 2023
An Update on Animal Models of Osteogenesis Imperfecta.
Lv F et al.
Calcified Tissue International, 2022
Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.
Jovanovic M et al.
Endocrine Reviews, 2022
Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene.
Campopiano MC et al.
Frontiers in Endocrinology, 2022
The WNT1G177C mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV.
Vollersen N et al.
Bone Research, 2021
Mice Carrying a Ubiquitous R235W Mutation of Wnt1 Display a Bone-Specific Phenotype.
Yorgan TA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S et al.
Frontiers in Genetics, 2020
NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.
Cao YJ et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2019
Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation.
Ang K et al.
Bone Reports, 2018
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
Kausar M et al.
Journal of Biomedical Science, 2018
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand.
Luther J et al.
Science Translational Medicine, 2018
The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.
Kuptanon C et al.
Bmc Medical Genetics, 2018
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
Umair M et al.
Pediatric Research, 2017
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.
Kang H et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2017
Mutations in WNT1 cause different forms of bone fragility.
Keupp K et al.
American Journal of Human Genetics, 2013