Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.G177C
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WNT1

NM_005430.4:p.G177C

Associated Papers

Wnt family members regulating osteogenesis and their origins.

Kobayashi Y et al.

Journal of Bone and Mineral Metabolism, 2025

Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta.

Misof BM et al.

Calcified Tissue International, 2024

Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.

Tan Z et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

Osteomodulin deficiency in mice causes a specific reduction of transversal cortical bone size.

Zhao W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

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

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

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

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

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

Disulfide bond requirements for active Wnt ligands.

MacDonald BT et al.

The Journal of Biological Chemistry, 2014

Mutations in WNT1 cause different forms of bone fragility.

Keupp K 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."