Oral‐facial‐digital syndrome (OFDS) is a multisystemic ciliopathic disorder with an autosomal recessive mode of inheritance. OFDS usually manifests with typical craniofacial anomalies and variable occurrence of polydactyly. Germline variants in CPLANE1 cause OFDS VI. In this study, we investigated a 26‐year‐old Chinese female patient who was 23 +1 weeks pregnant. She had a history of adverse pregnancy outcomes with multiple foetal malformations. We performed ultrasonography and identified the foetus as having a posterior fossa Blake cyst and postaxial polydactyly. The patient decided to terminate her pregnancy, and further genetic molecular analysis was performed. We identified the aborted foetus as having postaxial polydactyly. Whole‐exome sequencing identified a missense variant (c.3599C>T, p.A1200V) in exon 20 and a c.834+1G>T variant in exon 7 of CPLANE1 (NM_023073.3) in the foetus. Sanger sequencing confirmed that these variants came from the parents of the foetus. In this study, we investigated a family with OFDS VI through genetic testing and bioinformatics analysis, which provided powerful help for prenatal diagnosis. Then, we demonstrated that the cell migration rate and the number of cilia were decreased after interference with CPLANE1 expression in NIH/3T3 cells. After CPLANE1 knockdown, the Hh signalling pathway was inhibited, and the Hh pathway activator SAG reversed the inhibitory effect. This is the first report of a family with OFDS VI in the Chinese population.
Diabetes-associated cognitive dysfunction(DACD) is one of the neurological complications of diabetes, and it mainly involves the hippocampal region of the brain and affects the learning and memory functions of the body. There are many studies on the pathogenesis of DACD, but there is a lack of in-depth studies on the underlying molecular mechanism, which poses a great challenge to drug development. In this study, we focused on the molecular mechanism by which signal transduction by the glycine transporter GlyT1 participates in the development of DACD and systematically elucidated the processes of synaptic plasticity and apoptosis in hippocampal neurons. The results showed that when neurons were exposed to a high-glucose environment, low levels of GlyT1 inhibited the activation of the PI3K/AKT/mTOR pathway to promote neuronal apoptosis; additionally, GlyT1 regulated NMDR expression to regulate glycine concentrations in order to reduce synaptic plasticity. The transcription factor Sp1 bound to the GlyT1 promoter region and regulated GlyT1 expression, so we explored whether Sp1 expression was regulated by the protease-ubiquitin system, resulting in decreased Sp1 levels.In conclusion, In conclusion, our study systematically demonstrated the biological function and molecular mechanism by which GlyT1 participates in DACD development, elucidated the upstream and downstream mechanisms of GlyT1 regulation, provided reliable molecular targets for DACD treatment, and enhanced the understanding of the mechanism underlying DACD development.
Breast cancer(BC) is the most prevalent cancer and the second-leading cause of cancer-related death for women in the worldwide. BC cells need more amino acids to meet the demand of rapid proliferation. In this paper, we focus on the role of near‑infrared (NIR) spectroscopy to analyse blood plasma samples of breast cancer patients to differentiate healthy controls. The possibility of quantitative detection of 20 amino acids in breast cancer plasma by NIR spectroscopy was investigated for the first time in this study. 180 samples (80 BC patients, 30 benign breast disease patients and 70 healthy controls) were analysed. Canonical correlation analysis (CCA) was used to analyse the relationship between clinical biochemical parameters and amino acid metabolic profile for BC patients. In this study, plasma glutamine, histidine, threonine, proline, phenylalanine content of BC patients was higher than healthy control plasma (p < 0.05) by NIR spectroscopy. There was overall correlation (r = 0.935) between three clinical parameters(age, albumin, total triglyceride) and four amino acids (glutamic acid, tyrosine, valine and lysine) from BC patients. In this study,we have built quantitative and qualitative model which is used to detect plasma amino acids of BC patients by NIR spectroscopy has good performance. It fully demonstrated the great potential and advantages of NIR spectroscopy combined with chemometrics in breast cancer research, which can provide a new research strategy and technical platform for the study of plasma amino acid metabolism in breast cancer patients, and provide basic experimental data reference for clinical diagnosis and treatment of breast cancer patients.
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