The de novo missense mutation F224S in GABRB2, identified in epileptic encephalopathy and developmental delay, impairs GABAR function.

Genetic variants in genes encoding subunits of the γ-aminobutyric acid-A receptor (GABAR) have been found to cause neurodevelopmental disorders and epileptic encephalopathy. In a patient with epilepsy and developmental delay, a de novo heterozygous missense mutation c.671 T > C (p.

Down-regulation of the Smad signaling by circZBTB46 via the Smad2-PDLIM5 axis to inhibit type I collagen expression.

Background: Abnormal type I collagen (COL1) expression is associated with the development of many cardiovascular diseases. The TGF-beta/Smad signaling pathway and circRNAs have been shown to regulate COL1 gene expression, but the underlying molecular mechanisms are still not fully understood.

Methods: Gain- and loss-of-function experiments were prformed to study the effect of circZBTB46 on the expression of alpha 2 chain of type I collagen (COL1A2).

Increased CD4+CD25+ regulatory T cells correlate with poor short-term outcomes in hepatitis B virus-related acute-on-chronic liver failure patients.

Background: The roles of CD4(+)CD25(+) regulatory T cells (Treg) in chronicity of hepatitis B virus (HBV) infection have been confirmed. We aimed to explore alteration of Treg in patients with HBV-related acute-on-chronic liver failure (ACLF).

Methods: Thirty-two HBV-related ACLF patients, 44 chronic hepatitis B patients, and 41 healthy controls were recruited.

Improved efficacy by individualized combination therapy with Peg IFN-a 2a and ADV in HBeAg positive chronic hepatitis B patients.

Background/aims: Monotherapy with pegylated interferon alpha (Peg-IFNa) or adefovir dipivoxil (ADV) to HBeAg-positive chronic hepatitis B (CHB) patients has limited effects. This study aims to evaluate therapeutic efficacy and safety of individualized combination therapy with Peg-IFNa and ADV.

Methodology: HBeAg-positive CHB patients (n=160) were enrolled in this multi-center, prospective, randomized, 'real-life' cohort study, of which received Peg IFNa-2a monotherapy or combination therapy with ADV base on the baseline features and treatment response.

[Hairy roots induction of Phellodendron chinense and production of its active constituents].

Objective: To introduce the hairy roots of Phellodendron chinense and determine the content of its active constituents.

Method: Transformed hairy roots of P. chinense were obtained by the transformation of Agrobacterium rhizogenes A4, R1600, ATCC15834 and R1000.

[Cloning and sequencing of p35 gene from Bombyx mori nuclear polyhedrosis virus strain Shandong].

According to the 5' and 3' untranslated region sequences of p35 gene from Bombyx mori nuclear polyhedrosis virus isolate T3, a pair of primers was designed employing computer analysis. With the primers,polymerase chain reaction (PCR) was performed and a 1080 bp fragment was obtained from BmNPV strain Shandong. Sequencing result showed that it was p35 gene (GenBank accession number: AY157746), and it included an open reading frame of 900 bp, encoding 299 amino acids with Mr=34.

[Miniscale preparation for large plasmid DNA from Bacillus thuringiensis].

Miniprep of low copy number and large plasmid was done from three subspecies of Bacillus thuringiensis. The plasmid was purified using PEG 6000 instead of phenol and chloroform. Experiments demonstrate that consequences from this protocol were stable, the quality and yield of plasmid DNA produced from it have met the standard for many molecular biology experiments.

[The relationship between hepatic expression, serum level of TGFbeta1 and the hepatic fibrosis in patients with viral hepatitis].

Objective: To detect the hepatic tissue and serum level of TGFbeta1 in patients with viral hepatitis, in order to clarify their relationship of the starting, developing of hepatic fibrosis.

Methods: This study included 92 patients with viral hepatitis. Liver puncture was performed in 31 patients.

[Cloning and sequencing of chitinase gene from Bacillus thuringiensis subsp israelensis].

Chitin, a linear homopolymer of N-acetyl-D-glucosamine, is a common constituent of fungal cell walls, exoskeletons of insects, and shells of invertebrates. Thus, chitinase, a chitin hydrolytic enzyme, has become of interest for potential use as biopesticides for controlling insect pests. Using a pair of specific primers, chitinase gene (ichi) was amplified by touchdown PCR from Bacillus thuringiensis subsp israelensis chromosomal DNA, and then subcloned into pGEM-T easy vector.

[Analysis of RAPD markers about sterility gene in cytoplasm-nucleolus interacting type rice mitochondrial DNA].

Two specific fragments OPJ18-1000 and OPJ18-1400 were obtained from mitochondrial DNAs of two rice varieties, II-32 and II you 949, by RAPD analysis. The sequenced lengths of the two differential fragments were 1068 bp and 1481 bp, respectively. The result of Southern hybridization demonstrated that the differential fragments were true.