Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype 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

Large Tunneling Magnetoresistance in van der Waals Ferromagnet/Semiconductor Heterojunctions

2D layered chalcogenide semiconductors have been proposed as a promising class of materials for low-dimensional electronic, optoelectronic, and spintronic devices. Here, all-2D van der Waals vertical spin-valve devices, that combine the 2D layered semiconductor InSe as a spacer with the 2D layered ferromagnetic metal Fe3GeTe2 as spin injection and detection electrodes, are reported. Two distinct transport behaviors are observed: tunneling and metallic, which are assigned to the formation of a pinhole-free tunnel barrier at the Fe3GeTe2/InSe interface and pinholes in the InSe spacer layer, respectively. For the tunneling device, a large magnetoresistance (MR) of 41% is obtained under an applied bias current of 0.1 µA at 10 K, which is about three times larger than that of the metallic device. Moreover, the tunneling device exhibits a lower operating bias current but a more sensitive bias current dependence than the metallic device. The MR and spin polarization of both the metallic and tunneling devices decrease with increasing temperature, which can be fitted well by Bloch's law. These findings reveal the critical role of pinholes in the MR of all-2D van der Waals ferromagnet/semiconductor heterojunction devices