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1.
Reprod Domest Anim ; 2019 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-31486139

RESUMO

The aim of this study was to investigate whether the addition of trehalose to cryomedia reduces cellular damage and improves gene expression in cryopreserved dairy goat testicular tissues. Testicular tissues were cryopreserved in cryomedia without or with trehalose at a concentration of 5%, 10%, 15%, 20%, or 25%. Cryopreserved testicular tissues were analysed for TUNEL-positive cell number, expression of BAX, BCL-2, CREM, BOULE, and HSP70-2. Isolated Leydig cells from cryopreserved tissue were cultured and spent medium was evaluated for testosterone level. The results showed that though the TUNEL-positive cell number increased in cryopreserved testicular tissues, the presence of trehalose reduced apoptotic cell number significantly. Quantitative real-time polymerase chain reaction (qRT-PCR) results showed that although the expression of BAX was up-regulated following cryopreservation, the presence of trehalose downregulates it in cryopreserved testicular tissues. Expression of BCL-2, CREM, BOULE, and HSP70-2 was downregulated following cryopreservation but the presence of trehalose significantly upregulated their expression in cryopreserved testicular tissues. Leydig cells isolated from testicular tissues cryopreserved with trehalose produced higher testosterone than the one without it (control). These results suggest that trehalose has a protective role in cryopreservation of dairy goat testicular tissue, and the most suitable trehalose concentration for cryopreservation is 15%. This article is protected by copyright. All rights reserved.

2.
Molecules ; 24(17)2019 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-31470567

RESUMO

BACKGROUND: The development of new antifungal agents has always been a hot research topic in pesticide development. In this study, a series of derivatives of natural compound ß-pinene were prepared, and the antifungal activities of these derivatives were evaluated. The purpose of this work is to develop some novel molecules as promising new fungicides. METHODS: Through a variety of chemical reactions, ß-pinene was transformed into a series of ß-pinene-based derivatives containing amide moieties and acylthiourea moieties. The antifungal activities of these derivatives against five plant pathogens including Colletotrichum gloeosporioides, Fusarium proliferatum, Alternaria kikuchiana, Phomopsis sp. and Phytophthora capsici were tested; preliminary structure-activity relationship was discussed. RESULTS: Some derivatives exhibited moderate or significant antifungal activity due to the fusion of the amide moiety or the acylthiourea moiety with the pinane skeleton. The structure-activity relationship analysis showed that the fluorine atom and the strong electron withdrawing nitro group, or trifluoromethyl group on the benzene ring of the derivatives had a significant effect on the improvement of the antifungal activity against Colletotrichum gloeosporioides, Fusarium proliferatum, Alternaria kikuchiana and Phomopsis sp. Meanwhile, the introduction of an ethyl group at the meta-position on the benzene ring of the derivatives could improve the antifungal activity against Phytophthora capsici. Compounds 4e, 4h, 4q, 4r exhibited broad-spectrum antifungal activity against the tested strains. Compound 4o had significant antifungal activity against Phytophthora capsici (IC50 = 0.18 µmol/L). These derivatives were expected to be used as precursor molecules for novel pesticide development in further research.

3.
Eur J Pharm Sci ; : 105058, 2019 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-31472255

RESUMO

The biofilm formation of Pseudomonas aeruginosa (P. aeruginosa) is regulated by a phenomenon of quorum sensing (QS). With 5-hydroxyl-3,4-halogenated-5H-furan-2-ones as beginning, analogs bearing alkyl chains, vinyl bromide, or aromatic rings were designed and synthesized. The minimum inhibitory concentration (MIC) of the compounds against P. aeruginosa was assayed and the biofilm inhibition ratio was determined at different concentrations lower than the MIC. C-5 aromatic substituted furanones showed remarkable biofilm formation as well as inhibition of virulence factor production in P. aeruginosa. Fluorescence report analysis identified the QS regulatory mechanism of the most active compound 29. This study provides us a novel candidate for combating drug resistant bacteria strains by merely inhibiting biofilm formation. Without suppressing the regular life cycle of the bacteria, bacterial resistance mechanisms may not be activated.

4.
Int J Food Microbiol ; 310: 108313, 2019 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-31476580

RESUMO

Aflatoxin production of Aspergillus flavus is affected by abiotic factors such as temperature, water activity, oxidative stress, etc. These factors likely affect different metabolic pathways and result in altered aflatoxin production. Aflatoxin was determined in liquid media at 28 °C, solid media at 28 °C and solid media at 37 °C. The proteomic method was used to elucidate the mechanism of aflatoxin production in A. flavus in liquid media at 28 °C, solid media at 28 °C and solid media at 37 °C. Potential factors affecting aflatoxin production were found by GO and KEGG analysis. A. flavus produces more aflatoxin at 28 °C compared to 37 °C. Our study also found that A. flavus cultured on solid media produced more aflatoxin than in liquid media. In this study, we identified 5029 proteins from A. flavus NRRL3357, in which 1547 differential proteins were identified between liquid media and solid-state media, while 546 differential proteins were identified between 28 °C and 37 °C. Biological informatics analysis showed that these differential proteins were widely involved in a variety of biological processes, molecular functions, and cellular components, and were associated with multiple metabolic pathways. Compared to the liquid media, extracellular hydrolase for nutrient uptake and proteins related to sclerotia development were differentially expressed on solid media (p < 0.05). Enzymes involved in oxidative stress showed significantly down-regulated in liquid media and up-regulated at 28 °C (p < 0.05). Furthermore, our research also revealed aflatoxin synthesis is a complex process that is affected by a variety of factors such as nutrient uptake, oxidative stress, sclerotia development, G protein signaling pathways and valine, leucine and isoleucine degradation, and a speculative model summarizing the regulation of aflatoxin biosynthesis in A. flavus is presented.

5.
ACS Appl Mater Interfaces ; 11(34): 30735-30746, 2019 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-31369711

RESUMO

The practical applications of phosphoric acid-doped polybenzimidazole (PA-PBI) as high-temperature proton exchange membranes (HT-PEMs) are mainly limited by their poor dimensional-mechanical stability at high acid doping levels (ADLs) and the leaching of PA from membranes during fuel cell operation. In this work, to overcome these issues, we fabricated novel cross-linked PBI networks with additional imidazole groups by employing a newly synthesized bibenzimidazole-containing dichloro compound as cross-linker and an arylether-type Ph-PBI as matrix. Ph-PBI featured by good solubility under high molecular weight offers satisfactory film-forming ability and mechanical strength using for the matrix. Importantly, the additional imidazole moieties in BIM-2Cl endow the cross-linked PBI membranes improved dimensional-mechanical stability with simultaneously enhanced ADLs and proton conductivity. Furthermore, superior acid retention capability is obtained by incorporating porous polyhydroxy SiO2 nanoparticles into these cross-linked networks. As a result, the SiO2/cross-linked PBI composite membranes are suitable to manufacture membrane electrode assemblies (MEAs), and an excellent H2/O2 cell performance with a peak power density of 497 mW cm-2 at 160 °C under anhydrous conditions can be achieved.

6.
Stem Cell Res Ther ; 10(1): 265, 2019 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-31443687

RESUMO

BACKGROUND: Mesenchymal stem cells (MSCs) have been recognized as a promising tool for the treatment of various inflammatory disorders and autoimmune diseases. Stress conditions affect immune-mediated treatment and activate autophagy in MSCs. However, whether autophagy affects the MSC-mediated recruitment and differentiation of CD4+ T cells remains elusive. METHODS: MSCs were pretreated with 3-methyladenine (3-MA) and rapamycin to regulate autophagy, and then co-cultured with CD4+ T cells. CD4+ T cell migration and differentiation were detected by flow cytometry. Further, gene expression levels of well-known chemokines were analyzed by quantitative real-time PCR. Enzyme-linked immunosorbent assays and western blot analysis were performed to detect C-X-C motif chemokine ligand 8 (CXCL8) and transforming growth factor (TGF)-ß1 protein levels. An exogenous antibody and short hairpin RNA were used to regulate CXCL8 and TGF-ß1 levels, which enabled us to evaluate how autophagy affected MSC-mediated CD4+ T cell migration and differentiation. RESULTS: 3-MA inhibited autophagy in MSCs, which was activated by rapamycin. Rapamycin increased the migration of CD4+ T cells, whereas 3-MA decreased their migration. Mechanistically, we found that autophagy strengthened CXCL8 secretion, and the addition of exogenous CXCL8 and an anti-CXCL8 antibody eliminated the difference of CD4+ T cell migration among groups. Further, the ratio of regulatory T (Treg) cells was increased in rapamycin-pretreated MSCs, but the ratio of T helper 1 (Th1) cells was decreased, while pretreatment of MSCs with 3-MA induced the opposite effect compared with the control group. TGF-ß1 overexpression and knockdown using lentiviruses rectified the differences in the ratios of Treg and Th1 cells among the groups. CONCLUSION: This study demonstrates that autophagy of mesenchymal stem cells mediates CD4+ T cell migration and differentiation through CXCL8 and TGF-ß1, respectively. These results provide a potential new strategy for improving MSC-mediated therapy.

7.
Int J Mol Sci ; 20(17)2019 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-31443432

RESUMO

Placenta performs the function of several adult organs for the fetus during intrauterine life. Because of the dramatic physiological and metabolic changes during pregnancy and the strong association between maternal metabolism and placental function, the possibility that variation in gene expression patterns during pregnancy might be linked to fetal health warrants investigation. Here, next-generation RNA sequencing was used to investigate the expression profile, including mRNAs and long non-coding RNAs (lncRNAs) of placentas on day 60 of gestation (G60), day 90 of gestation (G90), and on the farrowing day (L0) in pregnant swine. Bioinformatics analysis of differentially expressed mRNAs and lncRNAs consistently showed dysregulation of bile acids transport and detoxification as pregnancy progress. We found the differentially expressed mRNAs, particularly bile salt export pump (ABCB11), organic anion-transporting polypeptide 1A2 (OATP1A2), carbonic anhydrase II (CA2), Na+-HCO3- cotransporter (NBC1), and hydroxysteroid sulfotransferases (SULT2A1) play an important role in bile acids transport and sulfation in placentas during pregnancy. We also found the potential regulation role of ALDBSSCG0000000220 and XLOC_1301271 on placental SULT2A1. These findings have uncovered a previously unclear function and its genetic basis for bile acids metabolism in developing placentas and have important implications for exploring the potential physiological and pathological pathway to improve fetal outcomes.

8.
Artigo em Inglês | MEDLINE | ID: mdl-31444633

RESUMO

Increasing evidence shows that static magnetic fields (SMFs) can affect microbial growth metabolism, but the specific mechanism is still unclear. In this study, we have investigated the effect of moderate-strength SMFs on growth and vitamin K2 biosynthesis of Flavobacterium sp. m1-14. First, we designed a series of different moderate-strength magnetic field intensities (0, 50, 100, 150, 190 mT) and exposure times (0, 24, 48, 72, 120 h). With the optimization of static magnetic field intensity and exposure time, biomass and vitamin K2 production significantly increased compared to control. The maximum vitamin K2 concentration and biomass were achieved when exposed to 100 mT SMF for 48 h; compared with the control group, they increased by 71.3% and 86.8%, respectively. Interestingly, it was found that both the cell viability and morphology changed significantly after SMF treatment. Second, the adenosine triphosphate (ATP) and glucose-6-phosphate dehydrogenase (G6PDH) metabolism is more vigorous after exposed to 100 mT SMF. This change affects the cell energy metabolism and fermentation behavior, and may partially explain the changes in bacterial biomass and vitamin K2 production. The results show that moderate-strength SMFs may be a promising method to promote bacterial growth and secondary metabolite synthesis.

9.
BMJ Open ; 9(8): e026072, 2019 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-31377693

RESUMO

OBJECTIVES: 'National Special Stewardship in the Clinical Use of Antibiotics' was put forward in July 2011 in China. We aimed to retrospectively evaluate the impact of antimicrobial stewardship (AMS) managed by clinical pharmacists on antibiotic utilisation, prophylaxis and antimicrobial resistance (AMR). DESIGN: This was a retrospective observational study of trends in antibiotic use and AMR in the context of AMS. SETTING: Beijing Chaoyang Hospital, a 1400-bed tertiary hospital, in China. DATA AND PARTICIPANTS: Antibiotic prescriptions from 820 doctors included all outpatients (n=17 766 637) and inpatients (n=376 627) during 2010-2016. Bacterial resistance data were from all inpatients (n=350 699) during 2011-2016. INTERVENTIONS: Multiaspect intervention measures were implemented by clinical pharmacists (13 persons), for example, formulating the activity programme and performance management, advising on antibacterial prescriptions and training. OUTCOME MEASURES: The proportion of antibiotic prescriptions among outpatients and inpatients, intensity of consumption in defined daily dose (DDD)/100 bed-days, antibiotic prophylaxis in type I incision operations and resistance rates of Escherichia coli, Klebsiella pneumoniae and Pseudomonas aeruginosa were retrospectively analysed. RESULTS: The proportion of antibiotic prescriptions decreased in outpatients (from 19.38% to 13.21%) and in inpatients (from 64.34% to 34.65%), the intensity of consumption dropped from 102.46 to 37.38 DDD/100 bed-days. The proportion of antibiotic prophylaxis decreased from 98.94% to 18.93%. The proportion of rational timing of initial dose increased from 71.11% to 96.74%, the proportion of rational duration rose from 2.84% to 42.63%. Time series analysis demonstrated the resistance rates of E. coli and P. aeruginosa to fluoroquinolones decreased, the incidence rate of methicillin-resistant Staphylococcus aureus also decreased, whereas the resistance rates of E. coli and K. pneumoniae to carbapenems increased. The antibiotic use was partly positively correlated with AMR. CONCLUSIONS: AMS had an important role in reducing antibiotic use and surgical antibiotic prophylaxis. The AMR was positively correlated with antibiotic consumption to some extent.

10.
Artigo em Inglês | MEDLINE | ID: mdl-31415147

RESUMO

Metal-semiconductor-metal (MSM)-structured GaAs-based nanowire photodetectors have been widely reported because they are promising as an alternative for high-performance devices. Owing to the Schottky built-in electric fields in the MSM structure photodetectors, enhancements in photoresponsivity can be realized. Thus, strengthening the built-in electric field is an efficacious way to make the detection capability better. In this study, we fabricate a single GaAs nanowire MSM photodetector with superior performance by doping-adjusting the Fermi level to strengthen the built-in electric field. An outstanding responsivity of 1175 A/W is obtained. This is two orders of magnitude better than the responsivity of the undoped sample. Scanning photocurrent mappings and simulations are performed to confirm that the enhancement in responsivity is because of the increase in the hole Schottky built-in electric field, which can separate and collect the photogenerated carriers more effectively. The eloquent evidence clearly proves that doping-adjusting the Fermi level has great potential applications in high-performance GaAs nanowire photodetectors and other functional photodetectors.

11.
Chem Commun (Camb) ; 2019 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-31441466

RESUMO

A highly selective lysosome-targeting NIR fluorescent probe (Lyso-SiR-2S) for HOCl was constructed based on Si-rhodamine B spirodithiolactone. This probe was very effectively employed to sense HOCl produced in various living cells and to visualize fluctuations of endogenous HOCl resulting from GEN-induced acute kidney injury in vivo for the first time.

12.
FEBS J ; 2019 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-31365784

RESUMO

A disintegrin and metalloproteinase domain-containing protein 10 (ADAM10) is a metalloproteinase known to modulate the progression of several types of tumor. However, the role played by ADAM10 in pituitary adenomas is currently unknown, and what factors orchestrate the activation of ADAM10 in this kind of tumor is also unclear. Here, we found that SRC kinase is an ADAM10-interacting partner and that SRC kinase activity is required for this interaction. As a new positive regulator promoting the shedding activity of ADAM10, SRC could compete with calmodulin 1 (CALM1) for ADAM10 binding in a mutually exclusive manner. Strikingly, the interaction between ADAM10 and CALM1 is regulated by SRC activity. Furthermore, we proved that the cytoplasmic region of ADAM10 is required for the shedding activity of ADAM10 upon SRC activation. As a proof-of-concept, we discovered that the combination of ADAM10 and SRC inhibitors can inhibit cell proliferation and migration to a great extent. Thus, our findings shed light on a novel therapeutic strategy to block the tumorigenesis and migration of pituitary adenoma.

13.
Cell Cycle ; 18(18): 2359-2376, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31387451

RESUMO

Objective: Esophageal cancer (EC) is one of the most general malignant tumors in humans. There were few studies researching the connections between lncRNA UCA1 and EC. This study is to research the effect of lncRNA UCA1 adsorbing microRNA-498 (miR-498) as a ceRNA to regulate ZEB2 expression on epithelial mesenchymal transition (EMT), invasion and migration of EC cells. Methods: UCA1, miR-498 and ZEB2 expression in EC tissues and cells was detected by RT-qPCR or western blot analysis. EC cells were transfected with siRNA-UCA1, miR-498 mimics or their controls to determine cell colony, proliferation, cycle distribution, apoptosis, migration and invasion by colony formation assay, CCK-8 assay, flow cytometry, and Transwell assay, respectively. The protein expression of PCNA, c-Myc, E-cadherin, N-cadherin, MMP-2 and MMP-9 was detected by Western blot analysis. The growth rate and weight of transplanted tumor in nude mice were observed. Results: There were overly expressed UCA1 and ZEB2 and lowly expressed miR-498 in EC tissues and cells. LncRNA UCA1 acted as ceRNA to inhibit miR-498 expression and thereby increasing ZEB2 expression. With down-regulated UCA1 and up-regulated miR-498, ZEB2 expression, cell proliferation, colony formation, invasion, migration ability, EMT, tumor growth rate and weight in nude mice were apparently reduced. Conclusion: This study demonstrates that inhibited UCA1 up-regulated miR-498 and down-regulated ZEB2, thereby repressing proliferation activity, invasion, migration, and EMT of EC cells.

14.
Org Lett ; 2019 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-31436103

RESUMO

A light-driven, metal-free, and iminyl radical-mediated ring-opening C-C bond cleavage/addition cascade of O-4-methoxybenzyl oxime ethers and alkenes is described for the first time. The reaction shows a broad substrate scope and high functional group compatibility with both components, giving the corresponding valuable oxo nitriles in generally good yields. Key to the success of this protocol is the generation of cyclic iminyl radicals from the O-4-methoxybenzyl oxime ethers via a photocatalytic hydrogen atom transfer (HAT) process. The proposed main pathway is also supported by the preliminary mechanistic studies.

15.
EMBO J ; : e100811, 2019 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-31436334

RESUMO

The retina is a specialized neural tissue that senses light and initiates image processing. Although the functional organization of specific retina cells has been well studied, the molecular profile of many cell types remains unclear in humans. To comprehensively profile the human retina, we performed single-cell RNA sequencing on 20,009 cells from three donors and compiled a reference transcriptome atlas. Using unsupervised clustering analysis, we identified 18 transcriptionally distinct cell populations representing all known neural retinal cells: rod photoreceptors, cone photoreceptors, Müller glia, bipolar cells, amacrine cells, retinal ganglion cells, horizontal cells, astrocytes, and microglia. Our data captured molecular profiles for healthy and putative early degenerating rod photoreceptors, and revealed the loss of MALAT1 expression with longer post-mortem time, which potentially suggested a novel role of MALAT1 in rod photoreceptor degeneration. We have demonstrated the use of this retina transcriptome atlas to benchmark pluripotent stem cell-derived cone photoreceptors and an adult Müller glia cell line. This work provides an important reference with unprecedented insights into the transcriptional landscape of human retinal cells, which is fundamental to understanding retinal biology and disease.

16.
J Chin Med Assoc ; 2019 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-31425305
17.
Artigo em Inglês | MEDLINE | ID: mdl-31429172

RESUMO

Hypoxia, as a characteristic feature of solid tumor, can significantly adversely affect the outcomes of cancer radiotherapy (RT), photodynamical therapy or chemotherapy. In this study, we have developed a novel strategy to overcome tumor hypoxia induced radiotherapy tolerance. Specifically, a novel two-dimensional Pd@Au bimetallic core-shell nanostructures (TPAN) was employed for the sustainable and robust production of O2 in long-term via the catalysis of endogenous H2O2. Notably, the catalytic activity of TPAN could be enhanced via surface plasmon resonance (SPR) effect triggered by NIR-II laser irradiation, to enhance the O2 production and thereby relieve tumor hypoxia. Thus, TPAN could enhance radiotherapy outcomes by three aspects: (i) NIR-II laser triggered SPR enhanced the catalysis of TPAN to produce O2 for relieving tumor hypoxia; (ii) high-Z element effect arising from Au and Pd to capture X-ray energy within tumor; (iii) TPAN affording X-ray, photoacoustic and NIR-II laser derived photothermal imaging, for precisely guiding cancer therapy, so as to reduce the side effects from irradiation.

18.
Brain Behav Immun ; 2019 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-31394209

RESUMO

Neuronal injury within specific brain regions is considered a critical risk factor in the pathophysiology of depression. However, the underlying mechanisms of this process, and thus the potential for development of novel therapeutic strategies in the treatment of depression, remain largely unknown. Here, we report that Il-6 protects against neuronal anomalies related with depression, in part, by suppressing oxidative stress and consequent autophagic and apoptotic hyperactivity. Specifically, we show that IL-6 is downregulated within the CA1 hippocampus in two animal models of depression and upregulated by antidepressants. Increasing levels of IL-6 in the CA1 region result in pleiotropic protective actions including reductions in oxidative stress and modulation of autophagy, anti-immuno-inflammatory activation and anti-apoptotic effects in CA1 neurons, all of which are associated with the rescue of depression-like behaviors. In contrast, IL-6 downregulation exacerbates neuronal anomalies within the CA1 region and facilitates the genesis of depression phenotypes in rats. Interestingly, in addition to attenuating oxidative damage, the antioxidant, N-acetylcysteine (NAC), is also associated with significantly decreased neuronal deficits and the display of depressive behaviors in rats. These results suggest that IL-6 may exert neuroprotection within CA1 neurons via pleiotropic mechanisms and may serve as a potential therapeutic target for the treatment of depression.

19.
Autoimmunity ; 52(4): 161-167, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31394943

RESUMO

Background: Semaphorin-3A (Sema3A) and Semaphorin-7A (Sema7A) play crucial roles in immune system by inhibiting T cell proliferation and leading to the secretion of pro-inflammatory cytokines. Increasing evidence suggest that Sema3A and Sema7A may link to the development and pathogenesis of systemic lupus erythematosus (SLE). Objective: This study aims to evaluate the association of Sema3A, Sema7A gene single-nucleotide polymorphisms (SNPs) with susceptibility to SLE. Methods: There were 495 SLE patients and 493 healthy controls in the study. Sema3A gene and Sema7A gene were genotyped by improved multiple ligase detection reaction (iMLDR), their plasma expression levels were detected by enzyme-linked immunosorbent assay (ELISA). Results: No differences in genotype and allele frequencies of these SNPs were observed between SLE patients and healthy controls. However, analysing Sema3A and Sema7A SNPs with clinical manifestations of SLE indicated that, in Sema3A, the A allele frequencies of rs7804122 polymorphism was higher in patients with oral ulcers. In Sema7A, there were differences in allele frequencies of the rs2075589 and rs28362930 polymorphisms between SLE patients with haematological disorder and those without. The GG genotype and G allele frequencies of rs28362930 and the CC genotype, and C allele frequencies of rs741761 were both related to discoid rash in SLE patients. The allele frequency of G (rs28362930) was higher in SLE patients with renal disorder. There were differences in the genotype frequencies and allele frequencies of rs741761 between SLE patients with and without arthritis. No differences in plasma Sema3A and Sema7A levels were detected in SLE patients of different genotypes. Conclusions: Sema3A and Sema7A gene polymorphisms are not related to SLE genetic susceptibility, but may link to several clinical features of SLE.

20.
Mol Genet Genomic Med ; : e905, 2019 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-31423758

RESUMO

BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands. The adenosine deaminase RNA-Specific (ADAR;OMIM: *146920) gene was identified as causing DSH. Although more than 200 mutations are reported, no research has included the pedigrees of ethnic minorities in China. To investigate clinical features and genetic factors among multi-ethnic families, seven multi-ethnic pedigrees with DSH were collected for analysis of hereditary characteristics and ADAR mutations. METHODS: All 15 exons and exon-intron sequences of the ADAR gene were amplified and Sanger sequenced from 25 patients and 36 normal controls from seven multi-ethnic DSH families with 100 healthy normal controls. Seven mutations were analyzed by Polyphen 2, SIFT and Provean. All mutations in ADAR with DSH were reviewed and genetic and clinical features were summarized for analysis. The ADEAMc domain may be a hot spot of ADAR mutations among patients with DSH. RESULTS: Seven novel mutations were identified in seven multi-ethnic pedigrees: c.497delA(p.Arg105fs), c.3352C>T(p.Gln1058*) and c.3722delT(p.Ser1181fs) were found in three Uygur families with DSH; c.1330A>G(p.Val332Met) and c.2702A>T(p.His841Leu) were found in two Kazakh pedigrees and c.1176G>A(p.Lys326Glu) and c.2861G>A(p.Arg892His) in two Hui pedigrees. We summarized 203 different mutations of ADAR from people with DSH. CONCLUSIONS: Seven novel mutations were identified in seven multi-ethnic families with DSH. Our study expands the genetic spectrum of ADAR mutations in DSH.

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