No abstract

The amine functionalized material 1-dmen shows a record high working capacity for CO2 capture at low regeneration temperatures compared with other MOFs. Furthermore, this performance is maintained upon exposure to humidity.

A porous metal-organic framework (MOF), [Ni2(dobdc)(H2O)2]⋅6 H2O (Ni2(dobdc) or Ni-MOF-74; dobdc(4-)=2,5-dioxido-1,4-benzenedicarboxylate) with hexagonal channels was synthesized using a microwave-assisted solvothermal reaction. Soaking Ni2(dobdc) in sulfuric acid solutions at different pH values afforded new proton-conducting frameworks, H(+)@Ni2(dobdc). At pH 1.8, the acidified MOF shows proton conductivity of 2.2×10(-2) S cm(-1) at 80 °C and 95% relative humidity (RH), approaching the highest values reported for MOFs. Proton conduction occurs via the Grotthuss mechanism with a significantly low activation energy as compared to other proton-conducting MOFs. Protonated water clusters within the pores of H(+)@Ni2(dobdc) play an important role in the conduction process.

BackgroundPHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addition, three patients with de novo truncating mutations in PHF21A were reported recently. Here, we analyze genomic data from seven unrelated individuals with mutations in PHF21A and provide detailed clinical descriptions, further expanding the phenotype associated with PHF21A haploinsufficiency.MethodsDiagnostic trio whole exome sequencing, Sanger sequencing, use of GeneMatcher, targeted gene panel sequencing, and MiSeq sequencing techniques were used to identify and confirm variants. RT-qPCR was used to measure the normal expression pattern of PHF21A in multiple human tissues including 13 different brain tissues. Protein-DNA modeling was performed to substantiate the pathogenicity of the missense mutation.ResultsWe have identified seven heterozygous coding mutations, among which six are de novo (not maternal in one). Mutations include four frameshifts, one nonsense mutation in two patients, and one heterozygous missense mutation in the AT Hook domain, predicted to be deleterious and likely to cause loss of PHF21A function. We also found a new C-terminal domain composed of an intrinsically disordered region. This domain is truncated in six patients and thus likely to play an important role in the function of PHF21A, suggesting that haploinsufficiency is the likely underlying mechanism in the phenotype of seven patients. Our results extend the phenotypic spectrum of PHF21A mutations by adding autism spectrum disorder, epilepsy, hypotonia, and neurobehavioral problems. Furthermore, PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.ConclusionDeleterious nonsense, frameshift, and missense mutations disrupting the AT Hook domain and/or an intrinsically disordered region in PHF21A were found to be associated with autism spectrum disorder, epilepsy, hypotonia, neurobehavioral problems, tapering fingers, clinodactyly, and syndactyly, in addition to intellectual disability and craniofacial anomalies. This suggests that PHF21A is involved in autism spectrum disorder and intellectual disability, and its haploinsufficiency causes a diverse neurological phenotype.Electronic supplementary materialThe online version of this article (10.1186/s13229-019-0286-0) contains supplementary material, which is available to authorized users.

Isostructural lanthanide-organic frameworks were prepared by a solvothermal reaction of the corresponding metal ions and the phosphine-oxide-based tricarboxylate ligand. The gravimetric gas uptake was unexpectedly increased when going from Nd(3+) to Gd(3+), which is associated with the enhanced surface areas and electrostatic interactions between exposed metal ions and gas molecules with quadrupole moments.