A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of gene underlies β-propeller protein-associated neurodegeneration (BPAN).

Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous disease characterized by increased iron deposition in the basal ganglia and progressive degeneration of the nervous system in adulthood. However, in early childhood, there were no characteristic features to perform early diagnosis. In our study, a female child exhibited global developmental delay, intellectual disability, and febrile seizure without other distinct clinical phenotypes.

Analysis of the Distribution and Influencing Factors of Diffusion Coefficient Model Parameters Based on Molecular Dynamics Simulations.

The establishment of mathematical models to predict the diffusion coefficients of gas and liquid systems have important theoretical significance and practical value. In this work, based on the previously proposed diffusion coefficient model , the distribution and influencing factors of the model parameters characteristic length () and diffusion velocity () were further investigated using molecular dynamics simulations. The statistical analysis of and for 10 gas systems and 10 liquid systems was presented in the paper.

New Model to Predict Infinite Dilution Activity Coefficients Based on (∂/∂) .

Accurate prediction of infinite dilution activity coefficient (γ) is essential for the calculation of phase equilibria, solubility, and related properties in molecular thermodynamics. Here, we propose a new model to accurately predict the value of γ. It is applicable to calculate γ for compounds in aqueous solution at different temperatures.

Molecular Simulation for Guiding the Design and Optimization of Mixed Matrix Membranes (MMMs) in the Pervaporation Process.

Molecular simulation has been used extensively in the study of pervaporation membranes as a new economical and environmentally friendly research method. In this paper, A-SiO/PDMS-PTFE mixed matrix membranes (MMMs) were prepared by molecular-simulation-guided experiments to achieve the separation of dimethyl carbonate/methanol (DMC/MeOH)) azeotropes. The interaction energy, X-ray diffraction pattern mean square displacement, and density field between PDMS and inorganic particles were analyzed by molecular dynamics simulations.

Identification of a mutation of the gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies.

Background: FOXG1-related encephalopathy, also known as FOXG1 syndrome or FOXG1-related disorder, affects most aspects of development and causes microcephaly and brain malformations. This syndrome was previously considered to be the congenital variant of Rett syndrome. The abnormal function or expression of FOXG1, caused by intragenic mutations, microdeletions or microduplications, was considered to be crucial pathological factor for this disorder.

A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia affecting pre-mRNA splicing.

Wiedemann-Rautenstrauch syndrome (WDRTS) is an extremely rare autosomal recessive neonatal disorder. Currently, over 50 cases with variable phenotypes of WDRTS have been reported. In our cohort of prenatal and postnatal growth retardation, a female proband was found to have general growth retardation, neurocutaneous syndrome, and anemia.

Research of a Thermodynamic Function (∂p∂x)T, x→0: Temperature Dependence and Relation to Properties at Infinite Dilution.

In this work, we propose the idea of considering (∂p∂x)T, x→0 as an infinite dilution thermodynamic function. Our research shows that (∂p∂x)T,x→0 as a thermodynamic function is closely related to temperature, with the relation being simply expressed as: ln(∂p∂x)T, x→0=AT+B. Then, we use this equation to correlate the isothermal vapor−liquid equilibrium (VLE) data for 40 systems.

A ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.

Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a rare syndromic disorder characterized by global neurodevelopmental delay, early-onset hypotonia, poor overall growth, poor speech/language ability, and additional common phenotypes such as eye anomalies, joint hypermobility, and skeletal anomalies of the hands and feet. NEDDFSA is caused by heterozygous pathogenic variants in the gene on chromosome 10q22.3 with autosomal dominant (AD) mode of inheritance.

Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.

Background: Coffin-Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. CSS represents a small group of intellectual disability, and could be caused by at least twelve genes. The genetic background is quite heterogenous, making it difficult for clinicians and genetic consultors to pinpoint the exact disease types.

Experimental and Modeling of Conductivity for Electrolyte Solution Systems.

Studying the concentration and temperature dependence of the conductivity of electrolyte solution is of great significance for the evaluation and improvement of the performance of the electrochemical system. In this paper, based on the influence of the number of free ions and ion mobility on the conductivity, a semiempirical conductivity model with five parameters was proposed to correlate the conductivity, concentration and temperature data of electrolyte solutions at medium and high concentrations. The conductivities of NaCl and CaCl in propylene carbonate-HO binary solvents were measured at temperatures varying from 283.

Fabrication, Properties, Performances, and Separation Application of Polymeric Pervaporation Membranes: A Review.

Membrane separation technologies have attracted great attentions in chemical engineering, food science, analytical science, and environmental science. Compared to traditional membrane separation techniques like reverse osmosis (RO), ultrafiltration (UF), electrodialysis (ED) and others, pervaporation (PV)-based membrane separation shows not only mutual advantages such as small floor area, simplicity, and flexibility, but also unique characteristics including low cost as well as high energy and separation efficiency. Recently, different polymer, ceramic and composite membranes have shown promising separation applications through the PV-based techniques.

Study of a New Process for the Preparation of Butyl Levulinate from Cellulose.

Butyl levulinate (BL) is a versatile chemical utilized widely in food and chemical industries, the production of which by using cellulose in biomass resources is of great significance to its sustainable development. Traditional synthesis processes for -butyl levulinate are confronted with various problems such as high cost of raw materials, difficulty in separating products, etc. In this paper, a novel process for the preparation of BL from cellulose is proposed.

Layered Rare-Earth Hydroxide/Polyacrylamide Nanocomposite Hydrogels with Highly Tunable Photoluminescence.

Polymer nanocomposite (NC) hydrogels, with 3D networks composed of delaminated inorganic nanoparticles and a polymer matrix, usually display super mechanical toughness. However, the few types of inorganic materials and relatively scarce research for NC hydrogel functions seriously limit their applications. For the first time layered rare-earth hydroxide (LRH)/polyacrylamide NC hydrogels with highly tunable photoluminescence (PL) function are reported, prepared via a convenient and green in situ polymerization process.

A convenient green preparation of layered double hydroxide/polyacrylamide nanocomposite hydrogels with ultrahigh deformability.

A convenient green preparation method has been developed to achieve layered double hydroxide (LDH)/polymer nanocomposite (NC) hydrogels. In contrast to previous publications using toxic organic solvent of formamide or methanol in LDH exfoliation or anion exchange, the interlayer anion exchange and exfoliation of LDH are completed in one step with the help of an amino acid (L-serine). The LDH/polyacrylamide (PAM) NC hydrogels are achieved by a convenient exfoliation-adsorption in situ polymerization method.

Metabolite modulation of HeLa cell response to ENOX2 inhibitors EGCG and phenoxodiol.

Background: Constituents and inhibitors of intermediary metabolism resulting in alterations in levels of cytosolic NADH, stimulation of sphingomyelinase and inhibition of sphingosine kinase were evaluated for effects on growth inhibition and induction of apoptosis by the ENOX2 inhibitors EGCG, the principal catechin of green tea, and phenoxodiol, a naturally occurring isoflavone.

Methods: Responses were evaluated from dose-response curves of the metabolites and metabolic inhibitors in which growth of HeLa cells, apoptosis based on DAPI fluorescence and cytosolic NADH levels were correlated with sphingomyelinase and spingosine kinase activities and levels of ceramide and sphingosine1-phosphate.

Results: Growth inhibition correlated with the modulation of localized cytosolic NADH levels by metabolites and metabolic inhibitors, the response of sphingomyelinase and sphingosine kinase located near the inner surface of the plasma membrane, and apoptosis.

Anti-hepatitis B virus X protein in sera is one of the markers of development of liver cirrhosis and liver cancer mediated by HBV.

Hepatitis B virus X protein (HBx) plays a crucial role in the development of hepatocellular carcinoma (HCC). However, the significance of circulating antibody to hepatitis B virus X antigen (anti-HBx) in sera remains unclear. In the present study, we examined the titers of anti-HBx (IgG) in the sera from 173 patients with chronic hepatitis B (CHB), 106 liver cirrhosis (LC), and 61 HCC by enzyme-linked immunosorbent assay (ELISA), respectively.

Involvement of hepatitis B X-interacting protein (HBXIP) in proliferation regulation of cells.

Aim: To investigate the effect of Hepatitis B X-interacting protein (HBXIP) on cell proliferation.

Methods: A rabbit antibody against HBXIP was generated. The RNA interference (RNAi) fragment of the HBXIP gene was constructed in the pSilencer-3.

[Investigation of discrepant proteins between two breast cancer cell lines with different metastatic abilities].

Background & Objective: Metastasis associated proteins play important roles in metastasis. This study was to investigate proteins which may be involved in breast cancer cell metastasis and further explore the potential mechanisms.

Methods: LM-MCF-7 and MCF-7, two breast cancer cell lines with different metastatic potentials, derived from the same parent cell line, were used in our study.

[Screening of a sub-clone of human breast cancer cells with high metastasis potential].

Objective: To screen a sub-clone of human breast cancer cell of the MCF-7 line with high metastasis potential.

Methods: Human breast cancer cells of the MCF-7 line were injected subcutaneously into 10 severe combined immunodeficiency (SCID) mice. Sixty-eight days after the mice were killed and their lungs were taken out.

tNOX is both necessary and sufficient as a cellular target for the anticancer actions of capsaicin and the green tea catechin (-)-epigallocatechin-3-gallate.

Capsaicin and the principal green tea catechin, (-)-epigallocatechin-3-gallate (EGCg), target tNOX, a tumor (cancer)-specific surface hydroquinone (NADH) oxidase with protein disulfide-thiol interchange activity (ECTO-NOX protein). Accordingly vector-forced over expression of tNOX in MCF-10A mammary epithelia or COS cells that lack tNOX or in COS cells that underexpress tNOX enhanced the susceptibility of growth and apoptosis to both EGCg and capsaicin. Additionally, the tNOX-transfected MCF-10A cells proliferated in Matrigel, a measure of invasiveness.

Adriamycin tolerance in human mesothelioma lines and cell surface NADH oxidase.

Adriamycin tolerant human mesothelioma cell lines derived from a single tumor prior to either chemotherapy or radiation therapy and a susceptible cell line were investigated. Not only was growth resistant to low doses of adriamycin but an unusual pattern of resistance was encountered in which cells seemed to better tolerate high adriamycin doses than intermediate doses. The differential growth susceptibility of the tolerant lines compared to A549 lung carcinoma and the bimodal dose response correlated with differences in the specific activity of a plasma membrane-associated NADH oxidase (NOX).

Biochemical basis for the biological clock.

NADH oxidases at the external surface of plant and animal cells (ECTO-NOX proteins) exhibit stable and recurring patterns of oscillations with potentially clock-related, entrainable, and temperature-compensated period lengths of 24 min. To determine if ECTO-NOX proteins might represent the ultradian time keepers (pacemakers) of the biological clock, COS cells were transfected with cDNAs encoding tNOX proteins having a period length of 22 min or with C575A or C558A cysteine to alanine replacements having period lengths of 36 or 42 min. Here we demonstrate that such transfectants exhibited 22, 36, or 40 to 42 h circadian patterns in the activity of glyceraldehyde-3-phosphate dehydrogenase, a common clock-regulated protein, in addition to the endogenous 24 h circadian period length.