1.Effects of transcription factor cAMP response element binding protein on taxol-induced HeLa cell-cycle arrest
Shuaishuai HUANG ; Xue WANG ; Haihui ZHUANG ; Yuduo WANG ; Xiwu ZHOU ; Ping WANG
Acta Anatomica Sinica 2014;(4):485-492
Objective To explore the effects of cAMP response element binding protein ( CREB) on taxol-induced cell cycle arrest in HeLa cells .Methods MTT assay was used to determine the optimal concentration and treatment time . PCR method was used to construct the recombinant plasmid pCI neo /CREB( PN) and site-directed mutagenesis recombinant plasmid pCI neo/CREB-M(PM).Cell cycle was assayed by flow cytometry .Expressions of pCREB, CREB, cyclins and CDKs were assayed by Western blotting .Results The effective conditions of taxol treatment on HeLa cells were 0.1μmol/L for 24 hours.After cells were treated with 0.1μmol/L taxol, G2/M phase was arrested in a time-dependent manner , accomplished with the decrease of cyclin A , a significant increase of cyclin B1, D1 and phosphorylated CREB (pCREB) protein expression, whereas, no marked changes were observed in cyclin E , CDK1, CDK2, CDK4 and CREB expressions. However, combinantion of PM and taxol treatment significantly reduced taxol-induced G2/M phase arrest, and reversed the effect of taxol-decreased cyclin A, increased cyclin B1 and D1 expression.Conclusion Tanscription factor CREB-mediated specific cyclins play a pivotal role in taxol-induced G 2/M arrest in HeLa cells .
2.Clinical and genetic characteristics of 12 cases of Loeys-Dietz syndrome.
Jiaqi FAN ; Hairui SUN ; Xin WANG ; Yuduo WU ; Siyao ZHANG ; Xiaoyan HAO ; Jiancheng HAN ; Xiaoyan GU ; Ye ZHANG ; Lin SUN ; Yihua HE
Chinese Journal of Medical Genetics 2023;40(9):1093-1099
OBJECTIVE:
To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes.
METHODS:
Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected. Genomic DNA was extracted from peripheral blood samples and subjected to genetic testing. Pathogenicity of candidate variants was analyzed.
RESULTS:
The clinical phenotypes of the 12 patients have mainly included cardiovascular, musculoskeletal, craniofacial, skin, ocular and other systemic signs. Four patients (patients 5-1, 5-2, 6, 7) have carried heterozygous missense variants of the TGFBR1 gene, 5 patients (patients 1-1, 1-2, 2, 3, 4) have carried heterozygous variants of the TGFBR2 gene, and 2 patients (patients 8-1, 8-2) had carried heterozygous frameshift variants of the TGFB3 gene. One patient (patient 9) had carried a heterozygous missense variant of the SMAD3 gene. Among these, TGFBR1 c.603T>G (p.1201M) and TGFB3 c.536delA (p.H179FS35) had not been reported previously.
CONCLUSION
Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.
Humans
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Loeys-Dietz Syndrome/genetics*
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Receptor, Transforming Growth Factor-beta Type I/genetics*
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Receptor, Transforming Growth Factor-beta Type II/genetics*
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Transforming Growth Factor beta3
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Face