Associated Papers
Osteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients.
Wang Q et al.
American Journal of Medical Genetics. Part A, 2025
A novel mutation in intron 1 of Wnt1 causes developmental loss of dopaminergic neurons in midbrain and ASD-like behaviors in rats.
Li Y et al.
Molecular Psychiatry, 2023
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
Effects of WNT1 c.110 T>C and c.505G>T mutations on osteoblast differentiation via the WNT1/β-catenin signaling pathway.
Zhang B et al.
Journal of Orthopaedic Surgery and Research, 2021
The role of WNT1 mutant variant (WNT1c.677C>T ) in osteogenesis imperfecta.
Zhang B et al.
Annals of Human Genetics, 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
Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.
Lu Y et al.
Bone, 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
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
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
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
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
Aldinger KA et al.
Journal of Medical Genetics, 2016
Disulfide bond requirements for active Wnt ligands.
MacDonald BT et al.
The Journal of Biological Chemistry, 2014
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
Laine CM et al.
The New England Journal of Medicine, 2013
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Pyott SM et al.
American Journal of Human Genetics, 2013
One Wnt to lead them all: a Wnt1 primer.
Lekven AC et al.
Differentiation; Research in Biological Diversity, 0