Associated Papers
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
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
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
Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis.
El-Gazzar A et al.
International Journal of Molecular Sciences, 2021
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S et al.
Frontiers in Genetics, 2020
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
Besio R et al.
The Febs Journal, 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
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
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
Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.
Joeng KS et al.
Human Molecular Genetics, 2014
Mutations in WNT1 cause different forms of bone fragility.
Keupp K et al.
American Journal of Human Genetics, 2013