Publications by authors named "Jin-Xia Zhai"

Article Synopsis
  • Tuberous sclerosis (TSC) is a genetic condition caused by mutations in the TSC1 and TSC2 genes, leading to various health issues for patients and families due to challenges in diagnosis and unverified gene variants.
  • A 33-year-old Chinese male patient with TSC presented symptoms like intellectual disability, epilepsy, and organ tumors, prompting genetic testing to find the harmful variant.
  • The patient was diagnosed with TSC after identifying a specific mutation and was treated with medications, but he continues to experience significant health challenges, highlighting the variability of TSC symptoms.
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Article Synopsis
  • KCNQ2 is a potassium channel gene linked to epilepsy and autism, with many variants that can be misinterpreted regarding their harmful effects.
  • This study used genetic sequencing and computational models to identify a new missense variant (c.1007C > A) in the KCNQ2 gene, which leads to a change in amino acids that may impair channel function.
  • The functional impact was validated in a fruit fly model, where knocking out KCNQ caused seizures and other behavioral issues, but these were rescued by reintroducing the normal human KCNQ2 gene.
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Objectives: The APC2 gene, encoding adenomatous polyposis coli protein-2, is involved in cytoskeletal regulation in neurons responding to endogenous extracellular signals and plays an important role in brain development. Previously, the APC2 variants have been reported to be associated with cortical dysplasia and intellectual disability. This study aims to explore the association between APC2 variants and epilepsy.

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Objectives: The APC2 gene, encoding adenomatous polyposis coli protein-2, is involved in cytoskeletal regulation in neurons responding to endogenous extracellular signals and plays an important role in brain development. Previously, the APC2 variants have been reported to be associated with cortical dysplasia and intellectual disability. This study aims to explore the association between APC2 variants and epilepsy.

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Although several studies indicated an association between diurnal temperature range (DTR) and mortality, the results about modifiers are inconsistent, and few studies were conducted in developing inland country. This study aims to evaluate the effects of DTR on cause-specific mortality and whether season, gender, or age might modify any association in Hefei city, China, during 2007-2016. Quasi-Poisson generalized linear regression models combined with a distributed lag non-linear model (DLNM) were applied to evaluate the relationships between DTR and non-accidental, cardiovascular, and respiratory mortality.

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Polybrominated diphenyl ethers (PBDEs) have been extensively used as flame retardants in consumer products. PBDEs rapidly bioaccumulate in the environment, food, wild animals and humans. In this review, we investigated the harmful effects of PBDEs on humans, especially in early life, and summarised the levels of PBDEs in human biological samples (breast milk, cord blood and placentas).

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The aim of this study was to explore the association between follicle stimulating hormone receptor (FSHR) Thr307Ala and Asn680Ser polymorphisms and susceptibility to polycystic ovary syndrome (PCOS). A comprehensive literature search for relevant studies was conducted on Google Scholar, PubMed, the Chinese National Knowledge Infrastructure (CNKI) and the Chinese Biomedical Literature Database (CBM). This meta-analysis was performed using the STATA 11.

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The aim of this study was to summarize results on the association of cytotoxic T-lymphocyte antigen-4 (CTLA-4) promoter exon-1 +49 and 1722T/C polymorphism with systemic lupus erythematosus (SLE) susceptibility by using the meta-analysis. We searched all the publications about the association between CTLA-4) promoter exon-1 +49 and 1722T/C polymorphism and SLE from PubMed, Elsevier Science Direct, Chinese Biomedical Literature Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang (Chinese). Previous CTLA-4 association studies with SLE, however, have produced inconsistent results.

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Objective: Results from published studies on the association between the catechol-O-methyltransferase (COMT) Val158Met polymorphism and prostate cancer (PCa) risk are inconsistent. To derive a more precise estimate, we performed a meta-analysis.

Methods: We searched in the PubMed and Elsevier Science Direct database for studies on the association between the COMT Val158Met polymorphism and PCa.

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The aim of this meta-analysis was to summarize results on the association of monocyte chemoattractant protein-1(MCP-1) promoter -2518 A/G polymorphism with systemic lupus erythematosus (SLE) susceptibility. We searches all the publications about the association between MCP-1 promoter -2518 A/G polymorphism and SLE from Pubmed, Elsevier Science Direct, Chinese Biomedical Literature Database, Chinese National Knowledge Infrastructure. The meta-analysis was performed for genotypes AA verse GG, AA+AG verse GG, AA verse AG+GG, and A allele verse G allele in a fixed/random effect model.

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Objective: To explore the effects of mitogen activated protein kinase (MAPK) and extracellular signal-regulated kinases (ERK) on kidney injury in female BALB/c mice exposed to cadmium.

Method: Twenty-one female BALB/c mice were randomly divided into 3 groups, i.e.

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Lipopolysaccharide (LPS) from bacteria can accelerate and exacerbate lupus nephritis (LN) and induce infiltrating inflammatory cells in kidney in animal models. Pyrrolidine dithiocarbamate (PDTC) is known to exert anti-inflammatory effects. Monocyte chemoattractant protein-1(MCP-1) is upregulated by various stimuli, including LPS, high glucose, and hyperosmolality.

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Objective: To explore the lipid peroxidation and the testicular morphological change induced by decabrominated diphenyl ether (BDE-209) in male BALB/c mice.

Methods: Twenty one male BALB/c mice were randomly divided into three groups: the high exposure group (500 mg/kg BDE-209), the low exposure group (200 mg/kg BDE-20) and control group (normal saline). The mice were exposed by gavage one time a day for 6 weeks, then were sacrificed.

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Objective: To study the oxidative stress induced by decabromodiphenylether (PBDE-209) in the cerebral cortex, hippocampus, cerebellum and striatum of mice.

Methods: Twenty-eight male BALB/c mice were randomized divided into four groups with seven mice in each: solvent control, blank control, low (200 mg/kg) and high (500 mg/kg) dose groups. Test substances were administered by gavage and mice were sacrificed 6 weeks after treatment.

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Objective: To investigate the effects of exposure to decabrominated diphenyl ether (PBDE-209) on learning and memory of BALB/c mice.

Methods: Eighteen female BALB/c mice were randomized divided into 3 groups and gavaged with peanut oil in the control groups and 300, 1500 mg x kg(-1)xd(-1) PBDE-209 in peanut oil daily in two exposed groups respectively for 4 weeks. The learning and memory ability of mice were tested by the Morris water maze and the shuttling box respectively.

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A gas chromatography-mass spectrometry assay was developed and validated for the simultaneous determination of phthalates and adipates in human serum. The phthalates and adipates studied were dimethyl phthalate, diethyl phthalate, dibutyl phthalate, benzylbutyl phthalate, di-2-ethylhexyl phthalate, di-n-octyl phthalate, diethyl adipate, dibutyl adipate, diisobutyl adipate, bis(2-butoxyethyl) adipate and di-2-ethylhexyl adipate, with diisooctyl phthalate as internal standard. The extraction and cleaning up procedure was carried out with solid-phase extraction cartridges containing dimethyl butylamine groups, which showed extraction efficiencies over 88% for each analyte and the internal standard.

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Objective: To study the accumulation of fluoride in rat hippocampus and its effect on cholinesterase activity.

Methods: Rats were subchronically exposed to NaF, and fluoride concentration and cholinesterase activity in rat hippocampus were determined.

Results: Fluoride concentration in rat hippocampus was significantly correlated with the dosage of fluoride, and there were significant differences among high dosage group [(13.

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