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Hess Dohn posted an update 3 months, 2 weeks ago
Backgroud Pre-eclampsia (PE) is a common pregnancy-induced hypertension disease. Some case-control studies reported the association between Vascular endothelial growth factor (VEGF) gene polymorphisms (rs3025039,rs2010963) and PE risk. However, these associations were inconsistent in several studies. Therefore, we conducted this meta-analysis to assess the role of VEGF gene polymorphisms in PE more precisely. METHODS Eligible studies were searched in PubMed, Embase, Web of Science and Chinese (CNKI and WanFang) databases. Statistical analyses were performed by Stata 12.0 software. Odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of the association. In addition, subgroup analyses, sensitive analyses and publication bias analyses were performed to further assess this meta-analysis. RESULTS Totally, 21 studies were included in the meta-analysis covering 2,018 cases and 2,632 controls. There were significant associations between VEGF polymorphisms (rs3025039,rs2010963) and PE risk in the overall populations. In the subgroup analyses, we found that rs3025039 polymorphism was associated with the increased risk of PE amongst Chinese. As for rs2010963 polymorphism, a significant association was observed in subgroup of Caucasian. CONCLUSION The present study suggested that the two VEGF gene polymorphisms (rs3025039,rs2010963) are associated with increased risk of PE in different ethnic groups, which means that the targets may be useful genetic markers for early prediction of PE. Copyright 2020 The Author(s).BACKGROUND Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. OBJECTIVE To report for the first time the molecular aetiology of JHS. PATIENT AND METHODS Clinical and radiographic examination, whole exome sequencing, Sanger sequencing, mutant protein model construction, and in situ hybridization of Esco2 expression in mouse embryos were performed. RESULTS Clinical findings of the patient consisted of repaired cleft lip/palate, microcephaly, ptosis, short stature, delayed bone age, hypoplastic fingers and thumbs, clinodactyly of the fifth fingers, and humeroradial synostosis leading to elbow restriction. Intelligence is normal. Whole exome sequencing of the whole family showed a novel homozygous base substitution c.1654C>T in ESCO2 of the proband. The sister was homozygous for the wildtype variant. Parents were heterozygous for the mutation. The mutation is predicted to cause premature stop codon p.Arg552Ter. Mutations in ESCO2, a gene involved in cohesin complex formation, are known to cause Roberts/SC phocomelia syndrome. Roberts/SC phocomelia syndrome and JHS share similar clinical findings, including autosomal recessive inheritance, short stature, cleft lip/palate, severe upper limb anomalies, and hypoplastic digits. Esco2 expression during the early development of lip, palate, eyelid, digits, upper limb, and lower limb and truncated protein model are consistent with the defect. CONCLUSIONS Our study showed that Roberts/SC phocomelia syndrome and JHS are allelic and distinct entities. This is the first report demonstrating that mutation in ESCO2 causes JHS, a cohesinopathy. © The Author(s) 2020. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email journals.permissions@oup.com.Skeletally diverse and complex aza-cyclopenta(cd)diindene, pyrrolo(3,4-d)pyridine-13-carboxamide, and furo-pyrrolo(1,2-a)imidazole-4-carboxamide fused polyheterocyclic hybrid scaffolds and a furo(2,3-b)furan core have been accessed via one-pot three-component reaction by exploiting the build/couple/pair strategy of diversity oriented synthesis (DOS). This protocol is metal free, has a good substrate scope and affords products with good to excellent yields and regio- and chemo-selectivity. The heterocyclic skeletons obtained in this study mimic natural products such as eupolauramine, gracilamine and presilphiperfolanol.Time-resolved infra-red (TRIR) spectroscopy has been used to demonstrate that photolysis of [Mn(C^N)(CO)4] (C^N = bis-(4-methoxyphenyl)methanimine) in heptane solution results in ultra-fast CO dissociation and ultimate formation of a rare Mn-containing dinitrogen complex fac-[Mn(C^N)(CO)3(N2)] with a diagnostic stretching mode for a terminal-bound N[triple bond, length as m-dash]N ligand at 2249 cm-1. An isotopic shift to 2174 cm-1 was observed when the reaction was performed under 15N2 and the band was not present when the experiment was undertaken under an atmosphere of argon, reinforcing this assignment. An intermediate solvent complex fac-[Mn(C^N)(CO)3(heptane)] was identified which is formed in less than 2 ps, indicating that CO-release occurs on an ultra-fast timescale. Meclofenamate Sodium cell line The heptane ligand is labile and is readily displaced by both N2 and water to give fac-[Mn(C^N)(CO)3(N2)] and fac-[Mn(C^N)(CO)3(OH2)] respectively. The fac-[Mn(C^N)(CO)3(heptane)] framework showed a significant affinity for N2, as performing the reaction under air produced significant amounts of fac-[Mn(C^N)(CO)3(N2)]. Kinetic analysis reveals that the substitution of heptane by N2 (k = (1.028 ± 0.004) × 109 mol-1 dm3 s-1), and H2O is competitive on fast ( less then 1 μs) time scales. The binding of water is reversible and, under an atmosphere of N2, some fac-[Mn(C^N)(CO)3(OH2)] converts to fac-[Mn(C^N)(CO)3(N2)].Two organoselenium compounds, both of which were modified with two primary amine groups, were designed and synthesized to mimic the catalytic properties of glutathione peroxidase (GPx). It was demonstrated that the catalytic mechanism of the diselenide organoselenium compound (compound 1) was a ping-pong mechanism while that of the selenide organoselenium compound (compound 2) was a sequential mechanism. The pH-controlled switching of the catalytic activities was achieved by controlling the formation and dissociation of the pseudorotaxanes based on the organoselenium compounds and cucurbit[6]uril (CB[6]). Moreover, the switching was reversible at pH between 7 and 9 for compound 1 or between 7 and 10 for compound 2.