Search

SRRM2 encodes a splicing factor recently implicated in developmental disorders due to a statistical enrichment of de novo mutations. Using data from the 100,000 Genomes Project, four unrelated individuals with intellectual disability (ID) were identified, each harbouring de novo whole gene deletions of SRRM2. Deletions ranged between 248 and 482 kb in size and all distal breakpoints clustered within a complex 144 kb palindrome situated 75 kb upstream of SRRM2. Strikingly, three of the deletions were complex, with inverted internal segments of 45-94 kb. In one proband-mother duo, de novo status was inferred by haplotype analysis. Together with two additional patients who harboured smaller predicted protein-truncating variants (p.Arg632 ∗ and p.Ala2223Leufs ∗ 13), we estimate the prevalence of this condition in cohorts of patients with unexplained ID to be ~1/1300. Phenotypic blending, present for two cases with additional pathogenic variants in CASR/PKD1 and SLC17A5, hampered the phenotypic delineation of this recently described condition. Our data highlights the benefits of genome sequencing for resolving structural complexity and inferring de novo status. The genomic architecture of 16p13.3 may give rise to relatively high rates of complex rearrangements, adding to the list of loci associated with recurrent genomic disorders.

Iron-doped carbon nitride nanoparticles (Fe-CNNPs) were prepared from citric acid, urea and ferric chloride through a convenient one-pot solvothermal method. Oleic acid was used as the reaction medium. The morphology and chemical composition of the obtained Fe-CNNPs were characterized by multiple methods including transmission electron microscopy (TEM), X-ray diffraction (XRD), X-ray photoelectron spectroscopy (XPS) and Fourier transform infrared spectroscopy (FT-IR). It is interesting to find that the Fe-CNNPs showed higher catalytic activity than horseradish peroxidase (HRP), and tetramethylbenzidine (TMB) can be catalytically oxidized in the presence of H2O2 to produce a color change in aqueous solution. As H2O2 can be generated in the oxidation process of glucose catalyzed by glucose oxidase (GOD), a novel sensitive method for the detection of glucose with a limit of detection (LOD) of 0.29 μM has been developed combined with the catalytic properties of GOD and Fe-CNNPs. The Fe-CNNPs with peroxidase mimetics activity may have potential applications in biotechnology field.

Tripartite motif containing 21 (TRIM21) is a member of the TRIM protein family with E3 ubiquitin ligase activity. Recent studies have demonstrated that TRIM21 widely contributes to physiological and pathological processes by ubiquitylating critical proteins in many kinds of cells. Additionally, multiple studies have shown that TRIM21 plays an important role in multiple cell differentiation processes. However, whether TRIM21 modulates the osteogenic differentiation process of mesenchymal stem cells (MSCs) remains unclear. In this study, we demonstrated that the expression of TRIM21 was decreased during the osteogenic process of MSCs and that TRIM21 negatively regulated the osteogenic capacity of MSCs both in vitro and in vivo. Moreover, we further demonstrated that TRIM21 modulated the osteogenic process of MSCs by acting as an E3 ubiquitin ligase to mediate the K48-linked ubiquitination of Akt and cause degradation. In summary, these results emphasize the critical role of TRIM21 in bone formation and TRIM21 may be a promising target to improve the clinical use of MSCs in tissue engineering.

We report a method for precisely identifying and locating the pollen of different species in a microscope based on multihyperspectral imaging. Since pollen species are complicated and difficult to ...

Background/Aims: In this study, the molecular mechanisms of miR-27b and lipoprotein lipase (LPL) that regulate human adipose-derived mesenchymal stem cells (hASCs) adipogenic differentiation were detected. Methods: Microarray analysis was applied to screen for differentially expressed miRNAs and mRNA during hASCs adipocyte differentiation induction. MiR-27b and LPL were found to have abnormal expression. Then, a dual luciferase reporter assay was employed to validate the targeting relationship between miR-27b and LPL. We also utilized qRT-PCR, western blot, cellular immunofluorescence and an oil red O staining assay to analyze the regulation of miR-27b and LPL during adipogenic differentiation. Results: The microarray analysis demonstrated that, during adipogenic differentiation, miR-27b was down-regulated, while LPL was up-regulated but tended to become stable 14 days after induction. A dual luciferase reporter assay confirmed the negative targeting regulatory relationship between miR-27b and LPL. After overexpressing and silencing miR-27b, LPL was found to be reversely regulated by miR-27b according to qRT-PCR and western blot. The fat-formation-related biomarkers CCAAT-enhancer binding protein α (c/EBPα) and peroxisome proliferator-activated receptors γ (PPARγ) had decreasing levels after over-expressing miR-27b or knockdown of LPL followed by adipogenic differentiation. Meanwhile, the oil red O staining assay revealed that the accumulation of lipid droplets decreased. There was no change in the expression of c/EBPα, PPARγ, or lipid droplet accumulation when overexpressing miR-27b and LPL. Conclusion: During the adipogenic differentiation of hASCs, miR-27b expression decreased, and LPL expression increased. The abnormal expression of miR-27b and LPL effectively regulated the adipogenic differentiation of hASCs.

Iron-doped carbon nitride nanoparticles (Fe-CNNPs) were prepared from citric acid, urea and ferric chloride through a convenient one-pot solvothermal method. Oleic acid was used as the reaction medium. The morphology and chemical composition of the obtained Fe-CNNPs were characterized by multiple methods including transmission electron microscopy (TEM), X-ray diffraction (XRD), X-ray photoelectron spectroscopy (XPS) and Fourier transform infrared spectroscopy (FT-IR). It is interesting to find that the Fe-CNNPs showed higher catalytic activity than horseradish peroxidase (HRP), and tetramethylbenzidine (TMB) can be catalytically oxidized in the presence of H