Associated Papers
Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature.
Acquaviva F et al.
International Journal of Molecular Sciences, 2025
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.
Uludağ Alkaya D et al.
Calcified Tissue International, 2025
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.
Warrick JI et al.
Scientific Reports, 2022
A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin.
Ekhzaimy AA et al.
Medicina (kaunas, Lithuania), 2022
Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants.
Walton RT et al.
Science (new York, N.y.), 2020
Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.
Whyte MP et al.
Bone, 2018
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family.
He WT et al.
Clinical Genetics, 2016
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 2015
Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report.
Belkhribchia MR et al.
European Journal of Medical Genetics, 2014
A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.
Maupin KA et al.
Bone Research, 2013
Novel SOST gene mutation in a sclerosteosis patient and her parents.
Bhadada SK et al.
Bone, 2013
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function.
Piters E et al.
Human Mutation, 2010
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.
Kim CA et al.
Genetic Testing, 2008
SOST/sclerostin, an osteocyte-derived negative regulator of bone formation.
van Bezooijen RL et al.
Cytokine & Growth Factor Reviews, 2005
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene.
Balemans W et al.
Bone, 2005
Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target?
Balemans W et al.
Journal of Musculoskeletal & Neuronal Interactions, 2004
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
Balemans W et al.
Human Molecular Genetics, 2001