Search

Abstract Background Intellectual disability (ID) refers to a childhood‐onset neurodevelopmental disorder with a prevalence of approximately 1%–3%. Methods We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated by minigene assay. Results Here, we report a boy with ID caused by a variant of CNKSR2. His neurological examination revealed hypsarrhythmia via electroencephalography and a right temporal polar arachnoid cyst via brain magnetic resonance imaging. A novel splicing variant in the CNKSR2 gene (NM_014927.5, c.1657+1G>A) was discovered by exome sequencing. The variant caused a 166 bp intron retention between exons 14 and 15, which was validated by a minigene assay. The variant was not reported in public databases such as gnomAD and the Exome Aggregation Consortium. Conclusions The variant was predicted to be damaging to correct the translation of the CNKRS2 protein and was classified as likely pathogenic according to the ACMG guidelines.

This paper proposes a novel physics-based equivalent circuit model of the lithium-ion battery for electric vehicle applications that has comprehensive electrochemical significance and an acceptable level of complexity. Initially, the physics-based extended single particle (ESP) model is improved by adding a correction term to mitigate its voltage bias. Then, the equivalent circuit model based on the improved extended single particle (ECMIESP) model is derived. In this model, the surface state of charge (SOC) of solid particles is approximated using a capacity and multi first-order resistance-capacity equivalent circuits with only two lumped parameters. The overpotential of electrolyte diffusion is approximated using a first-order resistance-capacitance equivalent circuit. The electrochemical reaction overpotential is characterized by a nonlinear resistance. The voltage accuracies of ECMIESP and conventional 2RC equivalent circuit model (ECM2RC) are compared across the entire SOC range under various load profiles. The results demonstrate that the ECMIESP model outperforms ECM2RC model, particularly at low SOC or when the electrochemical reaction overpotential exceeds 50 mV. For instance, the ECMIESP model shows an 820.4 mV reduction in voltage error compared to the ECM2RC model at the endpoint during a 2C constant current discharge test. Lastly, the ECMIESP model was used for SOC estimation with extended Kalman filter, resulting in significantly improved accuracy compared to the conventional ECM2RC model. Therefore, the ECMIESP model has great potential for real-time applications in enhancing voltage and SOC estimation precision.

Electroreduction of CO2 into formic acid (HCOOH) is of great economical value and potential for industrialization. However, it is still a substantial challenge due to the lack of efficient catalysts with simultaneously high activity, selectivity, and durability. Herein, a single‐atom bismuth loaded on N‐doped hollow carbon sphere (Bi–SA/NHCS) catalyst is reported and its catalytic activity and selectivity are modulated by changing the coordination structure of Bi center. The obtained Bi–SA/NHCS with a Bi–N3 site exhibits significantly enhanced electrocatalytic activity and selectivity of HCOOH synthesis from CO2 reduction. The HCOOH production rate achieves 16.2 mmol L−1 h−1 cm−2 at a current density of 20 mA cm−2, and its Faradaic efficiency remains 100% during a long‐term reaction. The HCOOH production rate normalized by catalyst loading is at a molar level of nearly 1.5 mol h−1 gcat−1. The production rate and Faradaic efficiency of HCOOH electrosynthesis on Bi–SA/NHCS are significantly boosted as compared with other catalysts reported in the literature. Experimental and density‐functional theory results demonstrate that the boosted activity and selectivity of HCOOH synthesis owe to the electronic structure modulation to the Bi center via threefold coordinated N‐ligands, leading to a proper binding energy of HOCO* intermediates.

Developmental epileptic encephalopathy-47 (DEE47) is a nervous system disease characterized by the onset of intractable seizures that appear the first days or weeks after birth. FGF12 is the disease-causing gene of DEE47 that encodes a small cytoplasm protein, which is a member of the fibroblast growth factor homologous factor (FGF) family. The FGF12-encoded protein interacts with the cytoplasmic tail of voltage-gated sodium channels to enhance the voltage dependence of rapid inactivation of sodium channels in neurons. This study used non-insertion Sendai virus transfection to establish the induced pluripotent stem cells (iPSCs) line with FGF12 mutation. The cell line was obtained from a 3-year-old boy carrying the c.334G > A heterozygous mutation in the FGF12 gene. This iPSC line could facilitate the investigations of pathogeneses of complex nervous system diseases such as developmental epileptic encephalopathy.

Accurate tracking of seed dispersal is critical for understanding gene flow and seed bank dynamics, and for predicting population distributions and spread. Available seed-tracking techniques are limited due to environmental and safety issues or requirements for expensive and specialized equipment. Furthermore, few techniques can be applied to studies of water-dispersed seeds. Here we introduce a new seed-tracking method using safranine to stain seeds/fruits by immersing in (ex situ) or spraying with (in situ) staining solution. The hue difference value between pre- and post-stained seeds/fruits was compared using the HSV color model to assess the effect of staining. A total of 181 kinds of seeds/fruits out of 233 tested species of farmland weeds, invasive alien herbaceous plants and trees could be effectively stained magenta to red in hue (320–360°) from generally yellowish appearance (30–70°), in which the other 39 ineffectively-stained species were distinguishable by the naked eye from pre-stained seeds. The most effectively stained seeds/fruits were those with fluffy pericarps, episperm, or appendages. Safranine staining was not found to affect seed weight or germination ability regardless of whether seeds were stained ex situ or in situ. For 44 of 48 buried species, the magenta color of stained seeds clearly remained recognizable for more than 5 months after seeds were buried in soil. Tracking experiments using four species (Beckmannia syzigachne, Oryza sativa f. spontanea, Solidago Canadensis, and Acer buergerianum), representing two noxious agricultural weeds, an alien invasive plant, and a tree, respectively, showed that the safranine staining technique can be widely applied for studying plant seed dispersal. Identifying and counting the stained seeds/fruits can be executed by specially complied Python-based program, based on OpenCV library for image processing and Numpy for data handling. From the above results, we conclude that staining with safranine is a cheap, reliable, easily recognized, automatically counted, persistent, environmentally safe, and user–friendly tracking-seed method. This technique may be widely applied to staining most of the seed plant species and the study of seed dispersal in arable land and in disturbed and natural terrestrial or hydrophytic ecological systems.