ArticleAmerican journal of human genetics2011
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 104 citations in OpenAlex.
- [Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2026Article
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- WNT10A-SMOC2-LRP4 network affects permanent tooth development via potential tooth-bone interaction.BMC oral health · 2025Article
- Utilising Next-Generation Sequencing to Explore the Molecular Etiology of Short Root Anomaly.Orthodontics & craniofacial research · 2025Article
- Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review).Molecular medicine reports · 2024Review
- Gene Misexpression in aJournal of the Endocrine Society · 2024Article
- Vitamin D opposes multilineage cell differentiation induced by Notch inhibition and BMP4 pathway activation in human colon organoids.Cell death & disease · 2024Article
- FTO Positively Regulates Odontoblastic Differentiation via SMOC2 in Human Stem Cells from the Apical Papilla under Inflammatory Microenvironment.International journal of molecular sciences · 2024Article
- Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.Frontiers in cell and developmental biology · 2024Review
- Analysis ofInternational journal of ophthalmology · 2024Article
- SMOC2 promoted vascular smooth muscle cell proliferation, migration, and extracellular matrix degradation by activating BMP/TGF-β1 signaling pathway.Journal of clinical biochemistry and nutrition · 2023Article
- SMOC-1 interacts with both BMP and glypican to regulate BMP signaling in C. elegans.PLoS biology · 2023Article
- The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.Orphanet journal of rare diseases · 2023Article
- Genetic/Protein Association of Atopic Dermatitis and Tooth Agenesis.International journal of molecular sciences · 2023Review
- Article
- Matricellular Protein SMOC2 Potentiates BMP9-Induced Osteogenic Differentiation in Mesenchymal Stem Cells through the Enhancement of FAK/PI3K/AKT Signaling.Stem cells international · 2023Article
- Genetic insight into the putative causal proteins and druggable targets of osteoporosis: a large-scale proteome-wide mendelian randomization study.Frontiers in genetics · 2023Article
- Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohort.Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie · 2022Article
- NovelJournal of personalized medicine · 2022Article
- SMOC2 promotes an epithelial-mesenchymal transition and a pro-metastatic phenotype in epithelial cells of renal cell carcinoma origin.Cell death & disease · 2022Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. Homozygosity mapping revealed a unique zone on 6q27-ter. The two affected children were found to carry a homozygous mutation in SMOC2. Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. Moreover, smoc2 depletion in zebrafish affected the expression of three major odontogenesis genes: dlx2, bmp2, and pitx2.
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