It is widely accepted that houses in better-designed neighborhoods are found to enjoy a price premium. Prior studies have mainly examined the impact of macro-level neighborhood attributes (e.g., park accessibility using land use data) on housing prices. More recently, research has investigated the micro-level features using street view imagery (SVI) data, though scholars limited the scope to objective indicators such as the green view index and sky view index. The role of subjectively measured street qualities is less discussed due to the lack of large-scale perception data. To provide better explanations of whether and how the micro-level neighborhood environment affects housing prices, this article introduces a framework to collect designers’ perceptions on five subjective urban design perceptions from pairwise SVI rankings in Shanghai with an online visual survey and further predicted through machine learning (ML) algorithms. We also extracted ten important objective features from the scenes. The predictive power of micro-level neighborhood street perceptions (subjective perceptions and objective features) on housing prices was investigated using the hedonic price model (HPM) through ordinary least squares (OLS) and spatial regression, which considers spatial dependence. The findings prove the significance of the value of perceived qualities of the neighborhoods. It reveals that both objective perceived features and subjective perceptions significantly contribute to housing prices; while the objective features show more collective strengths, individual subjective perceptions have more explanatory power, and we argue that these two measures can complement each other. This study provides an important reference for decision makers when selecting street quality indicators to inform city planning, urban design, and community and housing development plans.
Background: Non-syndromic oligodontia is characterized by the absence of six or more permanent teeth, excluding third molars, and can have aesthetic, masticatory, and psychological consequences. Previous studies have shown that PAX9 is associated with autosomal dominant forms of oligodontia but the precise molecular mechanisms are still unknown.Methods: Whole-exome and Sanger sequencing were performed on a cohort of approximately 28 probands with NSO, for mutation analysis. Bioinformatic analysis was performed on the potential variants. Immunofluorescence assay, western blotting, and qPCR were used to explore the preliminary functional impact of the variant PAX9 proteins. We reviewed PAX9-related NSO articles in PubMed to analyze the genotype-phenotype correlations.Results: We identified three novel PAX9 variants in Chinese Han families: c.152G>T (p.Gly51Val), c.239delC (p.Thr82Profs*3), and c.409C>T (q.Gln137Ter). In addition, two previously reported missense variants were identified: c.140G>C (p.Arg47Pro) and c.146C>T (p.Ser49Leu) (reference sequence NM_006194.4). Structural modeling revealed that all missense variants were located in the highly conserved paired domain. The other variants led to premature termination of the protein, causing structural impairment of the PAX9 protein. Immunofluorescence assay showed abnormal subcellular localizations of the missense variants (R47P, S49L, and G51V). In human dental pulp stem cells, western blotting and qPCR showed decreased expression of PAX9 variants (c.140G>C, p.R47P, and c.152G>T, p.G51V) compared with the wild-type group at both the transcription and translation levels. A review of published papers identified 64 PAX9 variants related to NSO and found that the most dominant feature was the high incidence of missing upper second molars, first molars, second premolars, and lower second molars.Conclusion: Three novel PAX9 variants were identified in Chinese Han families with NSO. These results extend the variant spectrum of PAX9 and provide a foundation for genetic diagnosis and counseling.
Novel PAX9 compound heterozygous variants in a Chinese family with nonsyndromic oligodontia and genotypephenotype analysis of PAX9 variants Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective: To report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship of PAX9 variants. Methodology: We recruited 28 patients with non-syndromic oligodontia who were admitted to the Hospital of Stomatology Hebei Medical University (China) from 2018 to 2021. Peripheral blood was collected from the probands and their core family members for whole-exome sequencing (WES) and variants were verified by Sanger sequencing. Bioinformatics tools were used to predict the pathogenicity of the variants. SWISS-MODEL homology modeling was used to analyze the three-dimensional structural changes of variant proteins. We also analyzed the genotype-phenotype relationships of PAX9 variants. Results: We identified novel compound heterozygous PAX9 variants (reference sequence NM_001372076.1) in a Chinese family with non-syndromic oligodontia: a new missense variant c.1010C>A (p.T337K) in exon 4 and a new frameshift variant c.330_331insGT (p.D113Afs*9) in exon 2, which was identified as the pathogenic variant in this family. This discovery expands the known variant spectrum of PAX9; then, we summarized the phenotypes of non-syndromic oligodontia with PAX9 variants. Conclusion:We found that PAX9 variants commonly lead to loss of the second molars.
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