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A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma
Chen, N;Sun, JY;Song, YL;Wei, XJ;Shi, Y;Zhang, L
JOURNAL OF COSMETIC DERMATOLOGY 2017年 16卷3期 页码:402-406
HYPERKERATOSIS; DISORDERS; FAMILY
BackgroundMutations of keratin 9 (KRT9) gene is a hot research area of epidermolytic palmoplantar keratoderma (EPPK).;-;AimsTo identify the genes caused the EPPK of a Chinese family.;-;Patients/MethodsThree cases of lesions were collected for pathological examination. Genomic DNA was extracted from peripheral blood samples of six patients and five healthy individuals and 100 unrelated individuals. Polymerase chain reaction (PCR) was used to amplify exons 1 of KRT9 gene. PCR products were sequenced to identify potential mutations.;-;ResultsThe lesion pathology of the proband and two ill relatives diagnosed EPPK. A new heterozygous missense mutation (488G>T) was identified in the 488 site of exon 1 of KRT9 gene in all six patients, which resulted in substitution of thymine for guanine, and substitution of leucine acid for arginine acid at position 163 of the KRT9 protein. The same mutation was not found in the five healthy individuals of the family and 100 unrelated individuals.;-;ConclusionsThe new heterozygous missense mutation (488G>T) of KRT9 gene is probably the cause of EPPK in this Chinese family.
Tripterygium wilfordii polyglycoside reduces the proliferation and inflammatory cytokines secretion of Hacat cells by regulating the balance of neutrophil elastase and trappin-2
Chen, N;Sun, JY;Song, YL;Ge, J;Shi, Y;Zhang, L
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY 2016年 9卷12期 页码:12219-12227
ACUTE LUNG INJURY; SEVERE PSORIASIS; HUMAN KERATINOCYTES; PLAQUE PSORIASIS; SERUM-LEVELS; EXPRESSION; MODERATE; THERAPY; PHOTOTHERAPY; METAANALYSIS
Psoriasis is an immune-mediated inflammatory keratotic skin disorder. Although some endogenous stimuli have been clarified to involve into the pathophysiology of psoriatic, the targeted drugs for treating psoriasis are still limited. Tripterygium wilfordii polycoride (TWP) extracted from Tripterygium wilfordii has potent anti-inflammatory and immune suppression functions, which has been widely used to treat autoimmune and inflammation-related diseases. In this paper, two injury models in vitro including Neutrophil elastase (NE) and NE plus Tumor necrosis factor-alpha (TNF-alpha) treated Hacat cells were established to investigate the therapeutic effect of TWP on psoriasis. Hacat cells viabilities were detected by CCK-8 kits. In addition, the levels of interleukin-6 (IL-6), interleukin-8 (IL-8), NE and trappin-2 in the supernatant were assayed using ELISA kits; and the expression of intercellular adhesion molecule-1 (ICAM-1) was detected by western blotting. The results showed that the cell viabilities, NE and trappin-2 levels in Hacat cells were markedly increased after pretreatment with NE compared with the control group. However, TWP and trappin-2 could significantly down-regulated cell viabilities, NE and the NE/trappin-2 ratio. Furthermore, TNF-a and NE plus TNF-a could up-regulated the levels of IL-6 and IL-8 and the ICAM-1 protein expression, which were reversed by pretreatment with TWP or trappin-2. Thus, we concluded that TWP has inhibitory effects on proliferation and inflammatory cytokines secretion of Hacat cells by decreasing the ratio of NE and Trappin-2 level. These findings provide a new insight that will aid in elucidating the actions of TWP against psoriasis.
Adenovirus siMDM2 and NDRG2 Gene Therapy Inhibits Cell Proliferation and Induces Apoptosis of Squamous Cell Carcinoma
Wang, SZ;Chen, N;Dong, N;Lu, LH;Liu, LQ;Zhang, L
CELL BIOCHEMISTRY AND BIOPHYSICS 2015年 73卷2期 页码:513-518
POOR-PROGNOSIS; 2 EXPRESSION; CANCER; ADENOCARCINOMA; COMPLEX; TARGET; MDM2
Squamous cell carcinoma (SCC) is one of the most common skin cancers. In the present study, we explored the effects of depletion of murine double minute gene 2 (MDM2) together with overexpression of N-myc downstream-regulated gene 2 (NDRG2) on cutaneous SCC. In order to achieve high efficiency of gene knockdown and overexpression in SCC-13 cells, recombinant adenovirus carrying siMDM2 and NDRG2 expression construct was produced. We found Ad-siMDM2, Ad-NDRG2, and Ad-siMDM2-NDRG2 infections inhibit the growth of SCC-13 cells in vitro, and Ad-siMDM2-NDRG2 infection has the highest inhibitory effect. Subcutaneous injections of Ad-siMDM2, Ad-NDRG2, and Ad-siMDM2-NDRG2 into SCC-13 xenograft nude mice resulted in the reduction of tumor volume. Moreover, we found that apoptosis protein caspase 3 was up-regulated in the Ad-siMDM2-, Ad-NDRG2-, and Ad-siMDM2-NDRG2-treated groups. Our data indicate that the adenovirus-mediated MDM2 silencing and NDRG2 overexpression can synergistically inhibit local cancer cell proliferation, induce apoptosis, and further prevent metastases of SCC. Our study provides a promising method that can be further developed as a new therapeutic approach against SCC.
D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome
Qiu, Y;Wang, ZX;Chen, N;Song, YL;Wang, ZY;Zhang, L
INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY 2012年 78卷5期 页码:640-U193
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 similar to 12.3 in a Chinese family
Xu, C;Zhang, L;Chen, N;Su, B;Pan, CM;Li, JY;Zhang, GW;Liu, Z;Sheng, Y;Song, HD
JOURNAL OF CUTANEOUS PATHOLOGY 2010年 37卷7期 页码:758-763
SCALP
Aim: To identify the disease-causing gene for a four-generation Chinese family with dominant transmission of a form of HHS. The work was carried out at State Key Laboratory of Medical Genomics.;-;Methods: Genome-wide screening was carried out in a Chinese family with HHS using microsatellite markers, and linkage analysis was performed using the MLINK program.;-;Results: The highest two-point logarithm of the odds (LOD) score was obtained with the microsatellite marker D13S217 (LOD score of 4.041 at theta = 0.00). After fine mapping and haplotype analysis, we defined a critical region of about 9.57 cM flanked by markers D13S1243 and D13S1299. The disease-causing gene was mapped to 13q12.12 similar to 12.3 in this family.;-;Conclusions: A novel locus for HHS maps to chromosome 13q12.12 similar to 12.3 in a Chinese family.;-;Xu C, Zhang L, Chen N, Su B, Pan C-M, Li J-Y, Zhang G-W, Liu Z, Sheng Y, Song H-D. A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 similar to 12.3 in a Chinese family.
G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family
Chen, N;Xu, C;Han, B;Wang, ZY;Song, YL;Li, S;Zhang, RL;Pan, CM;Zhang, L
JOURNAL OF DERMATOLOGY 2010年 37卷6期 页码:559-561
A case of Klinefelter syndrome with aplastic anemia (vol 93, pg 213, 2011)
Xu, C;Zhang, CY;Chen, N;Sun, X;Xiao, Y;Gao, L;Zhao, JJ
INTERNATIONAL JOURNAL OF HEMATOLOGY 2011年 93卷3期 页码:409-409
A case of Klinefelter syndrome with aplastic anemia
Xu, C;Zhang, CY;Chen, N;Sun, X;Xiao, Y;Gao, L;Zhao, JJ
INTERNATIONAL JOURNAL OF HEMATOLOGY 2011年 93卷2期 页码:213-215
Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis
Lu, YT;Zhang, RL;Wang, ZY;Zhou, SH;Song, YL;Chen, LM;Chen, N;Liu, WM;Ji, CA;Wu, WL;Zhang, L
BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH 2018年 51卷9期
HIDROTIC ECTODERMAL DYSPLASIA; CLOUSTON-SYNDROME; MITOCHONDRIA; EXPRESSION; FAMILY; DEATH
We constructed lentiviral vectors containing the human wild-type GJB6 gene and the mutant variants A88V and G11R. The three proteins were stably expressed by the Tet-on system in the HaCaT cell line and used to study the functional effect of the variants. The CCK-8 assay and flow cytometric analyses were used to determine the levels of cell proliferation and apoptosis. Western blot analyses were performed to analyze the relevant clinical indicators of hidrotic ectodermal dysplasia and markers of apoptosis in transfected HaCaT cells. The CCK8 assay and the flow cytometry results showed a significant increase (P<0.05) in the apoptosis of HaCaT cells expressing the A88V and G11R mutants. In addition, we demonstrated that the A88V and G11R mutants induced the apoptosis of transfected HaCaTcells via the activation of caspase-3, -8, -9, and PARA. No change was observed in the activity of BAX compared with the control. This study provides further clarification on the mechanisms underlying the effect of the mutant variants A88V and G11R of the GJB6 gene on the induction of HaCaT cell apoptosis.
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