Identification of novel COL4A5 variants and prenatal diagnosis in three large families.

Alport syndrome (AS) is the second-most frequent monogenic kidney disease and 85% of cases are caused by mutations in the genes of the α5 chains of collagen type IV (COL4A5). The early diagnosis and treatment are essential for the prognosis of AS. The clinical phenotypes of AS are very variable, which is challenging to diagnose.

Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.

Objective: This study was aimed to identify a rare complex rearrangement and assist prenatal counseling.

Method: Mate-pair sequencing (MPseq) combined with karyotypes, copy number variants sequencing and whole exome sequencing was used to provide accurate chromosome breakpoints and assist prenatal diagnosis for a mentally retarded pregnant woman.

Result: MPseq indicated a complex rearrangement involved 25 breakpoints and fusions, disrupting 6 genes.

Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.

Purpose: The aim of this study was to determine the genetic cause of early onset autosomal dominant hearing loss segregating in five-generation kindred of Chinese descent and provide preimplantation genetic testing (PGT)for them.

Methods: Clinical examination, pedigree analysis and exome sequencing were carried out on the family. Minigene-based splicing analysis, in vivo RNA analysis and protein structure prediction by molecular modeling were conducted on the candidate variant.

Emulsions stabilized by cellulose-based nanoparticles for curcumin encapsulations: antioxidant properties.

To improve the dispersity and antioxidant properties of curcumin, curcumin emulsions covered with cellulose particles (CP) with different structures were successfully prepared, and the structural characteristics, stability, and antioxidant properties of emulsions were investigated. The results showed that the CP obtained by increasing the hydrolysis time had smaller particle size, better water dispersion, and interfacial adsorption capacity. The encapsulation efficiency of curcumin in emulsion stabilized by cellulose particle hydrolyzed for 10 h can reach about 80%.

A study of Pb induced unfolding and aggregation of arginine kinase from : kinetics and computational simulation integrating study.

Arginine kinase is a crucial phosphagen kinase in invertebrates, which is associated to the environmental stress response, plays a key role in cellular energy metabolism. In this study, we investigated the Pb-induced inhibition and aggregation of arginine kinase (ESAK) and found that significantly inactivated ESAK in a dose-dependent manner (50 = 0.058 ± 0.

Sepiolite-zeolite powder doped with capric acid phase change microcapsules for temperature-humidity control.

A composite material with temperature-humidity control functions was prepared by using sepiolite-zeolite powder as humidity control matrix and capric acid phase change microcapsules as temperature control material. The micromorphology, thermal conductivity, compressive strength, hygrothermal effect were studied by environmental scanning electron microscope (ESEM), thermal conductivity test, strength test and hygrothermal effect test, respectively. The results showed that the phase change temperature of capric acid phase change microcapsule is between 31 °C ~ 32 °C, the phase change enthalpy is 123.

Highly efficient photothermal conversion capric acid phase change microcapsule: Silicon carbide modified melamine urea formaldehyde.

The microcapsule containing phase change materials(microPCMs) with high efficiency of photothermal conversion was prepared by in-situ polymerization via ultrasonic dispersion which used capric acid(CA) as core material and nano silicon carbide(nano-SiC) modified melamine-urea-formaldehyde(MUF) resin as wall material. The nano-SiC has good cross-linking with MUF shell. When the nano-SiC was added in microPCMs, it behaves superior thermal conductivity and thermal storage properties.

SpyTag/SpyCatcher molecular cyclization confers protein stability and resilience to aggregation.

The capacities for thermal and inhibitor tolerance are critical for industrial enzymes and loss of activity is a major challenge in deploying natural enzymes for commercial applications. Protein engineering approaches, such as site-directed mutagenesis and directed evolution, have been devoted to modifying natural enzymes. Recently, a post-translation protein engineering strategy, the SpyTag/SpyCatcher system, was introduced.

Nutrient and ruminal fermentation profiles of Camellia seed residues with fungal pretreatment.

Objective: The experiment was conducted to evaluate the effects of four fungal pretreatments on the nutritional value of Camellia seed residues, and to evaluate the feeding value of pre-treated Camellia seed residues for ruminants.

Methods: Camellia seed residues were firstly fermented by four lignin degrading fungi, namely, Phanerochaete chrysosporium (P. chrysosporium)-30942, Trichoderma koningiopsis (T.

Engineering the thermostability of a xylanase from Aspergillus oryzae by an enhancement of the interactions between the N-terminus extension and the β-sheet A2 of the enzyme.

A mesophilic Aspergillus oryzae xylanase (AoXyn11A) belongs to glycoside hydrolase family 11. Hydrogen bonds and a disulfide bridge were introduced between the N-terminus extension and the β-sheet A2 of AoXyn11A, which were located in the corresponding region of a hyperthermostable xylanase. The mutants were designated as AoXyn11A(C5) and AoXyn11A(C5-C32), respectively.