Associated Papers
Severe early-onset osteoporosis due to heterozygous WNT1 variants in adults: a clinical and therapeutic challenge.
Ryhänen EM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Osteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients.
Wang Q et al.
American Journal of Medical Genetics. Part A, 2025
Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.
Hu J et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis.
Loid P et al.
Frontiers in Endocrinology, 2022
The role of WNT1 mutant variant (WNT1c.677C>T ) in osteogenesis imperfecta.
Zhang B et al.
Annals of Human Genetics, 2020
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
PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology.
Mäkitie RE et al.
Frontiers in Endocrinology, 2020
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S et al.
Frontiers in Genetics, 2020
Defective WNT signaling may protect from articular cartilage deterioration - a quantitative MRI study on subjects with a heterozygous WNT1 mutation.
Lehtovirta S et al.
Osteoarthritis and Cartilage, 2019
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
New Insights Into Monogenic Causes of Osteoporosis.
Mäkitie RE et al.
Frontiers in Endocrinology, 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
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
Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling.
Mäkitie RE et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Defective WNT signaling associates with bone marrow fibrosis-a cross-sectional cohort study in a family with WNT1 osteoporosis.
Mäkitie RE 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, 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
Impaired WNT signaling and the spine-Heterozygous WNT1 mutation causes severe age-related spinal pathology.
Mäkitie RE et al.
Bone, 2017
Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient.
Won JY et al.
European Journal of Medical Genetics, 2017
Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3.
Wesseling-Perry K et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Teriparatide Treatment in Patients With WNT1 or PLS3 Mutation-Related Early-Onset Osteoporosis: A Pilot Study.
Välimäki VV et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.
Mäkitie RE et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
Laine CM et al.
The New England Journal of Medicine, 2013
One Wnt to lead them all: a Wnt1 primer.
Lekven AC et al.
Differentiation; Research in Biological Diversity, 0