A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.

The purpose of this study is to analyze the clinical characteristics of a Treacher Collins syndrome (TCS) patient carrying a de novo variant of TCOF1, and briefly analyze the correlation between genetic results and clinical features. Also, the pathogenesis and clinical treatment of TCS are reviewed.A Chinese pedigree with TCS containing 8 members was enrolled. Phenotype of the proband was evaluated by a surgeon, then whole exome sequencing of the proband was performed. Then we verified the proband-derived variants by Sanger sequencing in the pedigree. Correlation between genotype and phenotype was analyzed.The study was conducted in a stomatological hospital.A Chinese pedigree with TCS containing 8 members.To ascertain the genetic variants in the Chinese pedigree with TCS.Blood samples were collected.We reported a case of typical TCS with a de novo missense variant (NM_001371623.1:c.38T>G, p.(Leu13Arg)) in exon 1 of TCOF1, who presented asymmetrical facial abnormalities, including downward slanting of the palpebral fissures, sparse eyebrows, lateral tilt of the eyeballs, bilateral external ears deformities, hypoplasia of midface, reduction of the zygomatic body, bilateral orbital invagination, right external auditory canal atresia, mandibular ramus short deformity, cleft palate and the whole face was convex.This research found a novel variant of TCS in Chinese, expanding the spectrum of TCS pathogenic variants. Genetic results combined with clinical phenotype can make a definite diagnosis and provide genetic counseling for the family.

Preparation, Mechanical Properties, and Biocompatibility of Graphene Oxide-Reinforced Chitin Monofilament Absorbable Surgical Sutures.

Chitin (CT) is a good material to prepare surgical sutures due to its conspicuous biological characteristics. However, the poor mechanical strength of pure CT sutures limits its application. In order to improve its strength, a composite monofilament absorbable suture was prepared in this study using graphene oxide and chitin (GO-CT) using a green method. FT-IR spectra showed that GO-CT contained the characteristic functional groups of GO and CT, indicating that a GO-CT suture was successfully obtained. With the addition of a small amount of GO (1.6wt% solution) in chitin, the breaking tensile strength, knot strength, and knot-pull strength of the GO-CT suture were significantly improved compared to the CT suture. The biocompatibility of the GO-CT suture in vitro was checked by tetrazolium-based colorimetric assays and no cytotoxicity to L929 cells was found. In vivo, the subcutaneous implantation of GO-CT sutures in the dorsal skin of rats found no abnormalities by hematoxylin-eosin staining. Furthermore, there were no significant changes in the gene expression of the inflammatory mediators, interleukin 1ß (IL-1ß), tumor necrosis factor-α, IL-6, IL-17A, interferon-γ, or IL-10; however, the expression of transforming growth factor ß was significantly increased in the first week. In summary, GO-CT sutures may have potential as a suture material in the clinic.

Histone Deacetylase HDT1 is Involved in Stem Vascular Development in Arabidopsis.

Histone acetylation and deacetylation play essential roles in eukaryotic gene regulation. HD2 (HD-tuins) proteins were previously identified as plant-specific histone deacetylases. In this study, we investigated the function of the HDT1 gene in the formation of stem vascular tissue in Arabidopsis thaliana. The height and thickness of the inflorescence stems in the hdt1 mutant was lower than that of wild-type plants. Paraffin sections showed that the cell number increased compared to the wild type, while transmission electron microscopy showed that the size of individual tracheary elements and fiber cells significantly decreased in the hdt1 mutant. In addition, the cell wall thickness of tracheary elements and fiber cells increased. We also found that the lignin content in the stem of the hdt1 mutants increased compared to that of the wild type. Transcriptomic data revealed that the expression levels of many biosynthetic genes related to secondary wall components, including cellulose, lignin biosynthesis, and hormone-related genes, were altered, which may lead to the altered phenotype in vascular tissue of the hdt1 mutant. These results suggested that HDT1 is involved in development of the vascular tissue of the stem by affecting cell proliferation and differentiation.

Prediction of accessory canals on the apical third of mandibular second molar based on micro-computed tomography.

OBJECTIVE: The aim of this study was to investigate the anatomical factors influencing the incidence of accessory canals (ACs) in the apical third of the mandibular second molar in Chinese population. METHODS: Micro-CT was performed on 86 root canals. The five possible factors influencing the incidence of ACs in the apical third were named X1 to X5. These factors were the canal length of the apical third, fused roots, location of apical foramen, curvature of the root canals, and complexity of the canals. Statistical analysis was performed by the least absolute shrinkage and selection operator, receiver operating characteristic curve, and the χ2 test (α = 0.05). RESULTS: The selected variables in the least absolute shrinkage and selection operator regression model were fused roots and complex root canals. The area under the curve was 0.737, indicating that the model had a certain predictive ability. ACs were mainly distributed in the buccal wall and mesial wall of root canals in the apical third of molars (p < 0.05). CONCLUSIONS: For Chinese population, fused roots and complex root canals are anatomical factors influencing ACs in the apical one-third of mandibular second molars, and the ACs mainly occur in the buccal wall and mesial wall of the root canal.

PtomtAPX is an autonomous lignification peroxidase during the earliest stage of secondary wall formation in Populus tomentosa Carr.

At present, a cooperative process hypothesis is used to explain the supply of enzyme (class III peroxidases and/or laccases) and substrates during lignin polymerization. However, it remains elusive how xylem cells meet the needs of early lignin rapid polymerization during secondary cell wall formation. Here we provide evidence that a mitochondrial ascorbate peroxidase (PtomtAPX) is responsible for autonomous lignification during the earliest stage of secondary cell wall formation in Populus tomentosa. PtomtAPX was relocated to cell walls undergoing programmed cell death and catalysed lignin polymerization in vitro. Aberrant phenotypes were caused by altered PtomtAPX expression levels in P. tomentosa. These results reveal that PtomtAPX is crucial for catalysing lignin polymerization during the early stages of secondary cell wall formation and xylem development, and describe how xylem cells provide autonomous enzymes needed for lignin polymerization during rapid formation of the secondary cell wall by coupling with the programmed cell death process.

A single mutation in the cis-acting replication element identified within the EV-A71 2C-coding region causes defects in virus production in cell culture.

ABSTRACTEnterovirus A71 (EV-A71) can cause hand, foot and mouth disease with neurological and systemic complications, most frequently affecting children and infants. We describe a cis-acting replication element (cre) with a conserved stem-loop structure within the EV-A71 2C-coding region. By site-directed mutagenesis and reverse genetics using the EV-A71 full-length genome and the EV-A71 replicon containing the firefly luciferase reporter gene in place of the P1 region, the stem-loop structure and the AAACA in the loop of the cre were confirmed to be required for the EV-A71 replication phenotype. EV-A71 genomes containing a mutation at the first or third A residue of AAACA could not be recovered. Insertion of a wild-type cre from EV-A71 or poliovirus in the 5'UTR led to successful recovery of the replication of nonviable mutants. Furthermore, the cre mutants showed lower binding capacity with the host cellular factor IGF2BP2, knockdown of which resulted in a significant decrease in EV-A71 production. All the available evidence shows the location independence but functional importance of the interaction of the cre with the cellular host for efficient production of EV-A71, contributing to the growing body of knowledge regarding picornavirus cres.

Polypyrimidine Tract-Binding Protein Regulates Enterovirus 71 Translation Through Interaction with the Internal Ribosomal Entry Site.

Enterovirus 71 (EV71), a major causative agent of hand, foot, and mouth disease, has caused periodic infection outbreaks in children in the Asia-Pacific region. In order to describe the largely unknown life cycle of EV71, the molecular basis of its virus-host interactions must first be determined. The 5' untranslated region of EV71 contains a cloverleaf-like structure and internal ribosomal entry site (IRES), which play an important role in transcription and translation of viral protein. We found that polypyrimidine tract-binding protein 1 (PTB) bound to the IRES of EV71. RNA recognition motifs 1 and 2 of PTB were responsible for its binding to the EV71 IRES. Moreover, PTB protein was shuttled from nucleus to cytoplasm after EV71 infection. Additionally, IRES activity and viral protein production were inhibited by PTB knockdown. These results suggest that PTB interacts with the EV71 IRES, and positively regulates viral protein translation.

A novel polydopamine-based chemiluminescence resonance energy transfer method for microRNA detection coupling duplex-specific nuclease-aided target recycling strategy.

MicroRNAs (miRNAs), functioning as oncogenes or tumor suppressors, play significant regulatory roles in regulating gene expression and become as biomarkers for disease diagnostics and therapeutics. In this work, we have coupled a polydopamine (PDA) nanosphere-assisted chemiluminescence resonance energy transfer (CRET) platform and a duplex-specific nuclease (DSN)-assisted signal amplification strategy to develop a novel method for specific miRNA detection. With the assistance of hemin, luminol, and H2O2, the horseradish peroxidase (HRP)-mimicking G-rich sequence in the sensing probe produces chemiluminescence, which is quickly quenched by the CRET effect between PDA as energy acceptor and excited luminol as energy donor. The target miRNA triggers DSN to partially degrade the sensing probe in the DNA-miRNA heteroduplex to repeatedly release G-quadruplex formed by G-rich sequence from PDA for the production of chemiluminescence. The method allows quantitative detection of target miRNA in the range of 80 pM-50 nM with a detection limit of 49.6 pM. The method also shows excellent specificity to discriminate single-base differences, and can accurately quantify miRNA in biological samples, with good agreement with the result from a commercial miRNA detection kit. The procedure requires no organic dyes or labels, and is a simple and cost-effective method for miRNA detection for early clinical diagnosis.

[Effect of renal artery embolization using 2-poly-hydroxyethyl-methacrylate as a liquid embolic agent: a study in rabbits].

OBJECTIVE: To assess the effect of a liquid embolic agent 2-poly-hydroxyethyl -methacrylate (2-P-HEMA) for renal artery embolization in rabbits. METHODS: The precipitation time of different concentrations (2%, 3.5%, 5%, 6.5%, 8% and 9.5%) of 2-P-HEMA dissolved in different solutions (ethanol, ethanol/iobitridol, and ethanol/Bi2O3) were determined in flowing water. The mixtures of 2-P-HEMA (2%, 5%, and 8%) with ethanol/ Bi2O3 were injected into the renal arteries of the rabbits, and the artery-embolizing effects were assessed using angiography at 2 and 12 weeks after the injection, with also macroscopic and microscopic examination of the embolized kidneys. RESULTS: The mixtures of 2-P-HEMA and ethanol formed flocculent precipitation a few seconds after injection into flowing water, and the precipitation time showed no significant variations with the concentration of 2-P-HEMA in the mixture. Low and moderate concentrations of 2-P-HEMA could pass through the microcatheter smoothly with little injection resistance, and resulted in complete occlusion of the renal arteries without adhesion to the microcatheter. Angiography at 2 and 12 weeks detected no recanalization of the occluded renal arteries. Macroscopically, the lumen of the renal arteries was found to be occluded by the embolic agents, and deep penetration of the embolic agents into the glomerular arteries was observed microscopically. The mixture containing high-concentration 2-P-HEMA was difficult to deliver through the microcatheter due to high injection resistance. CONCLUSION: 2-P-HEMA can be rapidly precipitated after injection into flowing water, and allows complete embolization of the renal arteries of rabbits at proper concentrations, suggesting its great potential as an endovascular liquid embolic agent.

BRI3 associates with SCG10 and attenuates NGF-induced neurite outgrowth in PC12 cells.

In a yeast two-hybrid screen, we identified the microtubule-destabilizing protein SCG10 as a potential effector protein of BRI3. The association was verified using GST pull-down, Co-IP, and their perinuclear co-localization. The analysis of in vitro microtubule polymerization/depolymerization showed that the binding of BRI3 to SCG10 effectively blocked the ability of SCG10 to induce microtubule disassembly, as determined by turbidimetric assays. In intact PC12 cells, BRI3 exhibited the ability to stabilize the microtubule network and attenuate the microtubuledestabilizing activity of SCG10. Furthermore, co-expression of BRI3 with SCG10 attenuated SCG10-mediated PC12 cell neurite outgrowth induced by NGF. These results identify a novel connection between a neuron-specific BRI protein and the cytoskeletal network, suggesting possible roles of BRI3 in the process of neuronal differentiation.