Selective Implantation of Diamines for Cooperative Catalysis in Isoreticular Heterometallic Titanium-Organic Frameworks

This is the peer reviewed version of the following article: Selective Implantation of Diamines for Cooperative Catalysis in Isoreticular Heterometallic Titanium-Organic Frameworks, which has been published in final form at https://doi.org/10.1002/anie.202100176. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.[EN] We introduce the first example of isoreticular titanium-organic frameworks, MUV-10 and MUV-12, to show how the different affinity of hard Ti(IV) and soft Ca(II) metal sites can be used to direct selective grafting of amines. This enables the combination of Lewis acid titanium centers and available -NH, sites in two sizeable pores for cooperative cycloaddition of CO2 to epoxides at room temperature and atmospheric pressure. The selective grafting of molecules to heterometallic clusters adds up to the pool of methodologies available for controlling the positioning and distribution of chemical functions in precise positions of the framework required for definitive control of pore chemistry.This work was supported by the EU (ERC Stg Chem-fs-MOF 714122) and Spanish Government (CTQ2017-83486-P, RTI2018-098568-A-I00 & CEX2019-000919-M). E.L.-M. and S.T. thanks the Spanish Government for their Juan de la Cierva Fellowship (FJCI-2017-32956) and Ramon y Cajal contract (RYC-2016-1981), respectively. A.R.G. acknowledges funding from Generalitat Valencia (ACIF/2020/090)and Fondo Social Europeo. N.M.P. thanks the European Union for a Marie Sklodowska-Curie Global Fellowship (H2020MSCA-IF-2016-GF-749359-EnanSET) and to the "2020 Postdoctoral Junior Leader-Retaining Fellowship, la Caixa Foundation (ID 100010434 and fellowship code LCF/BQ/PR20/11770014)". F.G.C. acknowledges the support of a fellowship from "la Caixa" Foundation (ID 100010434 and the fellowship code LCF/BQ/PI19/11690011). S.N. thanks financial support by the Ministerio de Ciencia, Innovacion y Universidades (RTI 2018-099482-A-I00 project), Fundacion Ramon Areces (XVIII Concurso Nacional para la Adjudicacion de Ayudas a la Investigacion en Ciencias de la Vida y de la Materia, 2016) and Agencia Valenciana de la Innovacion (AVI-GVA, Carboagua project, INNEST/2020/111).López-Maya, E.; Padial, NM.; Castells-Gil, J.; Ganivet, CR.; Rubio-Gaspar, A.; García Cirujano, F.; Almora-Barrios, N.... (2021). Selective Implantation of Diamines for Cooperative Catalysis in Isoreticular Heterometallic Titanium-Organic Frameworks. Angewandte Chemie International Edition. 60(21):11868-11873. https://doi.org/10.1002/anie.2021001761186811873602

Permanent Neonatal Diabetes Caused by Creation of an Ectopic Splice Site within the INS Gene

PublishedCase ReportsJournal ArticleResearch Support, Non-U.S. Gov'tBACKGROUND: The aim of this study was to characterize the genetic etiology in a patient who presented with permanent neonatal diabetes at 2 months of age. METHODOLOGY/PRINCIPAL FINDINGS: Regulatory elements and coding exons 2 and 3 of the INS gene were amplified and sequenced from genomic and complementary DNA samples. A novel heterozygous INS mutation within the terminal intron of the gene was identified in the proband and her affected father. This mutation introduces an ectopic splice site leading to the insertion of 29 nucleotides from the intronic sequence into the mature mRNA, which results in a longer and abnormal transcript. CONCLUSIONS/SIGNIFICANCE: This study highlights the importance of routinely sequencing the exon-intron boundaries and the need to carry out additional studies to confirm the pathogenicity of any identified intronic genetic variants.Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas (CIBERDEM)Instituto de Salud Carlos III of the Spanish Ministry of HealthFIS-programsWellcome Trus

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in the 5′UTR of the gene, and methylation of the cytosines located in the CpG islands upstream of the CGG repeats. Here, we describe two unrelated families with one FXS child and another sibling presenting mild intellectual disability and behavioral features evocative of FXS. Genetic characterization of the undiagnosed sibling revealed mosaicism in both the CGG expansion size and the methylation levels in the different tissues analyzed. This report shows that in the same family, two siblings carrying different CGG repeats, one in the full-mutation range and the other in the premutation range, present methylation mosaicism and consequent decreased FMRP production leading to FXS and FXS-like features, respectively. Decreased FMRP levels, more than the number of repeats seem to correlate with the severity of FXS clinical phenotypes

Worst Case Scenario for Delayed Explosion of Hydrogen Jets at a High Pressure: Ignition Position

International audienceDelayed explosion of free field hydrogen releases at a high pressure is subject of multiple investigation performed by various authors in the past years. These studied considered various parameters such as pressures, flow rates etc., and their influence on the resulting overpressure. However, the influence of the ignition position on the maximum overpressure was not fully explored. Current investigation addressed by computational fluid dynamics (CFD) simulations and experimental measurement fills this gap. This work demonstrates that the ignition positions corresponding to 55%-65% of H2/air mixture give the maximum overpressure. This observation initially observed numerically and afterword confirmed experimentally. A simple model is also suggested

Identification of Two Fungal Endophytes Associated with the Endangered Orchid Orchis militaris L.

A survey of the endangered orchid Orchis militaris populations was carried out in north-eastern Italy. The occurrence of fungal root endophytes was investigated by light and electron microscopies and molecular techniques. Two main sites of presence were individuated in the Euganean Hills, differing as to the percentage of flowering individuals and of capsules completing maturity. Fluorescence microscopy revealed an intracellular cortical colonization by hyphal pelotons. Two ITS PCR products co-amplified. Sequencing revealed for the former an identity and a high similarity (99%) with a Tulasnellaceae (Basidiomycota) fungus found within tissues of the same host in independent studies in Hungary and Estonia, suggesting an interesting case of tight specificity throughout the Eurosiberian home range. The second amplicon had 99% similarity with Tetracladium species (Ascomycota) recently demonstrated as potential endophytes. TEM revealed two different hyphal structures. Double fungal colonization appears to occur in Orchis militaris and the possible requirement of a specific fungal partner throws light on the causes of this plant\u2019s rarity and threatened status

Delayed explosion of hydrogen high pressure jets in a highly obstructed geometry

Delayed explosions of accidental high pressure hydrogen releases are an important risk scenario in safety studies of production plants, transportation pipelines and fuel cell vehicles charging stations. Such explosions were widely explored in multiple experimental and numerical investigations. Explosion of high pressure releases in highly obstructed geometries with high blockage ratio is a much more complicated phenomenon. This paper is dedicated to the experimental investigation of the influence of obstacles on a delayed deflagration of hydrogen jets. The computational fluid dynamics (CFD) code FLACS is used to reproduce experimental data. In the current study the computed overpressure signals are compared to the experimentally measured ones at different monitoring points. Simulations are in close agreement with experimental results and can be used to predict overpressure where experimental pressure detectors were saturated. For homogenous stationary clouds a new approach of equivalent mixture of H2/air (~16.5%) to stoichiometric mixture of CH4/air is suggested. This approach is validated versus experimental data from the literature in terms of overpressure maxima. A parametric study is performed using FLACS for various concentrations in the same geometry in order to identify a possible transition from deflagration to detonation

Valutazione neurofisiologica dei riflessi trigeminali nella Sindrome di Adie

none7noneE. Gastaldo; E. Della Coletta; A. Lupato; E. Sette; J.G. Capone; V. Tugnoli; R. QuatraleGastaldo, Ernesto; DELLA COLETTA, Elena; Lupato, Angelica; Sette, Elisabetta; Capone, JAY GUIDO; Tugnoli, Valeria; Quatrale, Rocc

Sequence of amplified cDNA obtained from RNA of lymphoblastoid cells.

<p>Upper sequence is obtained from patient's immortalized cells. Lower panel, the sequence obtained from unaffected control lymphoblastoid cells.</p