Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 32
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Polymers (Basel) ; 16(8)2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38675047

RESUMO

The shuttle effect in lithium-sulfur batteries, which leads to rapid capacity decay, can be effectively suppressed by solid polymer electrolytes. However, the lithium-ion conductivity of polyethylene oxide-based solid electrolytes is relatively low, resulting in low reversible capacity and poor cycling stability of the batteries. In this study, we employed the activator generated through electron transfer atom transfer radical polymerization to graft modify the surface of silica nanoparticles with a bifunctional monomer, 2-acrylamide-2-methylpropanesulfonate, which possesses sulfonic acid groups with low dissociation energy for facilitating Li+ migration and transfer, as well as amide groups capable of forming hydrogen bonds with polyethylene oxide chains. Subsequently, the modified nanoparticles were blended with polyethylene oxide to prepare a solid polymer electrolyte with low crystallinity and high ion conductivity. The resulting electrolyte demonstrated excellent and stable electrochemical performance, with a discharge-specific capacity maintained at 875.2 mAh g-1 after 200 cycles.

2.
Materials (Basel) ; 17(5)2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38473557

RESUMO

With the rapid development of highly integrated electronic devices and high-frequency microwave communication technology, the parasitic resistance-capacitance (RC) delay and propagation loss severely restrict the development of a high-frequency communication system. Benefiting from its low dielectric constants (Dk) and low dielectric loss factor (Df), polyphenylene oxide (PPO) has attracted widespread attention for its application in the dielectric layers of integrated circuits. However, PPO suffers from a very high melting viscosity, a larger coefficient of thermal expansion than copper wire and poor solvent resistance. Recently, many efforts have focused on the modification of PPO by various means for communication applications. However, review articles focusing on PPO are unexpectedly limited. In this article, the research progress concerning PPO materials in view of the modification of PPO has been summarized. The following aspects are covered: polymerization and design of special chemical structure, low molecular weight PPO and blending with thermosetting resin, hyperbranched PPO, thermosetting PPO and incorporating with fillers. In addition, the advantages and disadvantages of various types of modification methods and their applications are compared, and the possible future development directions are also proposed. It is believed that this review will arouse the interest of the electronics industry because of the detailed summary of the cutting-edge modification technology for PPO.

3.
Plant Biotechnol J ; 21(11): 2224-2240, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37432878

RESUMO

Starch accounts for up to 90% of the dry weight of rice endosperm and is a key determinant of grain quality. Although starch biosynthesis enzymes have been comprehensively studied, transcriptional regulation of starch-synthesis enzyme-coding genes (SECGs) is largely unknown. In this study, we explored the role of a NAC transcription factor, OsNAC24, in regulating starch biosynthesis in rice. OsNAC24 is highly expressed in developing endosperm. The endosperm of osnac24 mutants is normal in appearance as is starch granule morphology, while total starch content, amylose content, chain length distribution of amylopectin and the physicochemical properties of the starch are changed. In addition, the expression of several SECGs was altered in osnac24 mutant plants. OsNAC24 is a transcriptional activator that targets the promoters of six SECGs; OsGBSSI, OsSBEI, OsAGPS2, OsSSI, OsSSIIIa and OsSSIVb. Since both the mRNA and protein abundances of OsGBSSI and OsSBEI were decreased in the mutants, OsNAC24 functions to regulate starch synthesis mainly through OsGBSSI and OsSBEI. Furthermore, OsNAC24 binds to the newly identified motifs TTGACAA, AGAAGA and ACAAGA as well as the core NAC-binding motif CACG. Another NAC family member, OsNAP, interacts with OsNAC24 and coactivates target gene expression. Loss-of-function of OsNAP led to altered expression in all tested SECGs and reduced the starch content. These results demonstrate that the OsNAC24-OsNAP complex plays key roles in fine-tuning starch synthesis in rice endosperm and further suggest that manipulating the OsNAC24-OsNAP complex regulatory network could be a potential strategy for breeding rice cultivars with improved cooking and eating quality.


Assuntos
Endosperma , Oryza , Endosperma/genética , Endosperma/metabolismo , Oryza/metabolismo , Melhoramento Vegetal , Amido/metabolismo , Amilopectina/metabolismo , Amilose/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
4.
ACS Appl Mater Interfaces ; 14(30): 34714-34721, 2022 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-35876495

RESUMO

Harvesting low-grade heat by an ionic hydrogel thermoelectric generator (ITEG) into useful electricity is promising to power flexible electronics. However, the poor environmental tolerance of the ionic hydrogel limits its application. Herein, we demonstrate an ITEG with high thermoelectric properties, as well as excellent capabilities of water retention, freezing resistance, and self-regeneration. The obtained ITEG can maintain the original water content at ambient conditions (302 K, 65% relative humidity (RH)) for 7 days and keep unfreezing at a low temperature (253 K). It can even be self-regenerated and recovered to its original state after a water loss in high-temperature conditions. Furthermore, a high ionic Seebeck coefficient of 11.3 mV K-1 and an impressive power density of 167.90 mW m-2 are achieved under a temperature difference of 20 K. A high power density of 60.00 mW m-2 can also be maintained even at 258 K. After drying and regeneration, ITEG-re could even exhibit a higher ionic Seebeck coefficient of 11.8 mV K-1. Successful lighting of light-emitting diodes (LEDs) and charging of capacitors demonstrate the great potential of ITEG to provide continuous energy supply for powering flexible electronics.

5.
Front Plant Sci ; 13: 905148, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35651773

RESUMO

Grain size and the endosperm starch content determine grain yield and quality in rice. Although these yield components have been intensively studied, their regulatory mechanisms are still largely unknown. In this study, we show that loss-of-function of OsNAC129, a member of the NAC transcription factor gene family that has its highest expression in the immature seed, greatly increased grain length, grain weight, apparent amylose content (AAC), and plant height. Overexpression of OsNAC129 had the opposite effect, significantly decreasing grain width, grain weight, AAC, and plant height. Cytological observation of the outer epidermal cells of the lemma using a scanning electron microscope (SEM) revealed that increased grain length in the osnac129 mutant was due to increased cell length compared with wild-type (WT) plants. The expression of OsPGL1 and OsPGL2, two positive grain-size regulators that control cell elongation, was consistently upregulated in osnac129 mutant plants but downregulated in OsNAC129 overexpression plants. Furthermore, we also found that several starch synthase-encoding genes, including OsGBSSI, were upregulated in the osnac129 mutant and downregulated in the overexpression plants compared with WT plants, implying a negative regulatory role for OsNAC129 both in grain size and starch biosynthesis. Additionally, we found that the expression of OsNAC129 was induced exclusively by abscisic acid (ABA) in seedlings, but OsNAC129-overexpressing plants displayed reduced sensitivity to exogenous brassinolide (BR). Therefore, the results of our study demonstrate that OsNAC129 negatively regulates seed development and plant growth, and further suggest that OsNAC129 participates in the BR signaling pathway.

6.
Front Plant Sci ; 13: 1050882, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36714703

RESUMO

Rice is a major food crop that sustains approximately half of the world population. Recent worldwide improvements in the standard of living have increased the demand for high-quality rice. Accurate identification of quantitative trait loci (QTLs) for rice grain quality traits will facilitate rice quality breeding and improvement. In the present study, we performed high-resolution QTL mapping for rice grain quality traits using a genotyping-by-sequencing approach. An F2 population derived from a cross between an elite japonica variety, Koshihikari, and an indica variety, Nona Bokra, was used to construct a high-density genetic map. A total of 3,830 single nucleotide polymorphism markers were mapped to 12 linkage groups spanning a total length of 2,456.4 cM, with an average genetic distance of 0.82 cM. Seven grain quality traits-the percentage of whole grain, percentage of head rice, percentage of area of head rice, transparency, percentage of chalky rice, percentage of chalkiness area, and degree of chalkiness-of the F2 population were investigated. In total, 15 QTLs with logarithm of the odds (LOD) scores >4 were identified, which mapped to chromosomes 6, 7, and 9. These loci include four QTLs for transparency, four for percentage of chalky rice, four for percentage of chalkiness area, and three for degree of chalkiness, accounting for 0.01%-61.64% of the total phenotypic variation. Of these QTLs, only one overlapped with previously reported QTLs, and the others were novel. By comparing the major QTL regions in the rice genome, several key candidate genes reported to play crucial roles in grain quality traits were identified. These findings will expedite the fine mapping of these QTLs and QTL pyramiding, which will facilitate the genetic improvement of rice grain quality.

7.
Materials (Basel) ; 14(8)2021 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-33920958

RESUMO

With a higher theoretical specific capacity (1675 mAh g-1) and energy density (2600 Wh kg-1), the lithium-sulfur (Li-S) battery is considered as a promising candidate for a next-generation energy storage device. However, the shuttle effect of polysulfides as well as the large interfacial impedance between brittle solid electrolyte and electrodes lead to the capacity of the Li-S battery decaying rapidly, which limits the practical commercial applications of the Li-S battery. Herein, we reported a facile in situ ultraviolet (UV) curing method to prepare a flexible quasi-solid-state composite electrolyte (QSSCE) of poly(propylene glycol)-co-pentaerythritol triacrylate/Li1.5Al0.5Ge1.5(PO4)3 (PPG-co-PETA/LAGP). By combining the high Li-ion conductivity and mechanical strength of inorganic NASICON-structure LAGP and good flexibility of the crosslinked PPG-co-PETA with nanopore structure, the flexible QSSCE with 66.85 wt% LAGP exhibited high Li-ion conductivity of 5.95 × 10-3 S cm-1 at 25 °C, Li-ion transference number of 0.83 and wide electrochemical window of ~5.0 V (vs. Li/Li+). In addition, the application of QSSCE in the Li-S battery could suppress the shuttle effect of polysulfides effectively, thus the Li-S battery possessed the excellent electrochemical cyclic performance, showing the first-cycle discharge-specific capacity of 1508.1 mAh g-1, the capacity retention of 73.6% after 200 cycles with 0.25 C at 25 °C and good rate performance.

8.
RSC Adv ; 11(42): 25955-25960, 2021 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-35479427

RESUMO

Copper selenide is widely considered to be a promising candidate for high-performance flexible thermoelectrics; however, most of the reported ZT values of copper selenides are unsatisfactory at a relatively low temperature range. Herein, we utilized some wet chemical methods to synthesize a series of copper selenides. XRD, SEM and TEM characterizations revealed that CuSe, Cu3Se2 and Cu2-x Se were prepared successfully and possessed different morphologies and sizes. Based on the analysis of their thermoelectric properties, Cu2-x Se exhibited the highest Seebeck coefficient and lowest thermal conductivity among the three samples owing to its unique crystal structure. After being sintered at 400 °C under N2 atmosphere, the electrical conductivity of Cu2-x Se enhanced considerable, resulting in a significant improvement of its ZT values from 0.096 to 0.458 at 30 to 150 °C. This result is remarkable for copper selenide-based thermoelectric materials at a relatively low temperature range, indicating its brilliant potential in the field of flexible thermoelectric devices.

9.
Polymers (Basel) ; 11(11)2019 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-31703389

RESUMO

A kind of core-shell hybrid nanoparticle comprised of a hollow mesoporous silica nanoparticles (HMS) core and a copolymer shell bearing N-(3,4-dihydroxyphenethyl) methacrylamide (DMA) and N-isopropylacrylamide (NIPAM) as responsive moieties was prepared. Moreover, the factors that could impact the surface morphology and hierarchical porous structure were discussed. In the presence of Fe3+, catechol-Fe3+ complexes were formed to achieve pH-responsive polymer shell, combining with thermal-sensitiveness of poly(N-isopropylacrylamide). Doxorubicin (DOX) was applied as a model drug and the behaviors of its loading/release behaviors were investigated to prove the idea. The results exhibited a significant drug loading capacity of 8.6% and embed efficiency of 94.6% under 1 mg ml-1 DOX/PBS solution. In fact, the loading capacity of drug can be easily improved to as high as 28.0% by increasing the DOX concentration. The vitro cytotoxicity assay also indicated that the as-prepared nanoparticles have no significant cytotoxicity on RAW 264.7 cells. The in vitro experiment showed that the cumulative release of DOX was obviously dependent on the temperature and pH values. This pH/temperature-sensitive hollow mesoporous silica nanosphere is expected to have potential applications in controlled drug release.

10.
Chem Commun (Camb) ; 54(81): 11431-11434, 2018 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-30246819

RESUMO

High-surface-area porous carbon nanosheets have been successfully prepared by direct carbonization of graphene oxide sandwiched poly(aniline-co-pyrrole). Benefiting from the distinct structure features of the poly(aniline-co-pyrrole) and its homogeneous deposition on the graphene oxide surface, the surface area of the porous carbon nanosheets is as high as 1606 m2 g-1.

11.
Chem Sci ; 8(3): 2101-2106, 2017 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-28507662

RESUMO

Advances in the performances of many modern materials fundamentally depend upon the exploitation of new micro/nanostructures. Therefore, ingenious design of hierarchical structures through the mimicking of natural systems is of increasing importance. Currently, there is an urgent need for creation of multidimensional carbonaceous structures by integrating a customized hierarchical pore architecture and hybrid carbon framework. Here we report the pioneering fabrication of novel super-hierarchical carbons with a unique carbonaceous hybrid nanotube-interconnected porous network structure by utilizing well-defined carbon nanotube@polystyrene bottlebrushes as building blocks. Hypercrosslinking of such heterogeneous core-shell structured building blocks not only allows for constructing amorphous microporous carbon shells on the surface of graphitic carbon nanotube cores, but also leads to formation of covalently interconnected nanoscale networks. Benefiting from such a well-orchestrated structure, these super-hierarchical carbons exhibit good electrochemical performances. Our findings may open up a new avenue for fabrication of unique and unusual functional carbon materials which possess well-orchestrated structural hierarchy and thus generate valuable breakthroughs in many applications including energy, adsorption, separation, catalysis and medicine.

12.
J BUON ; 22(1): 265-269, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28365964

RESUMO

PURPOSE: The current study was designed to investigate the primary efficacy of esophageal irradiation stents coated with 125I particles in the treatment of elderly patients with advanced esophageal cancer. METHODS: Forty-three elderly patients with advanced esophageal cancer were treated with esophageal stents in the First Affiliated Hospital of Xinxiang Medical University between September 2009 and December 2010. Patients were randomly divided into group A (N=18), treated with irradiation stents, and group B (N=25), treated with ordinary stents. There were no significant intergroup differences in age, lesion length, degree of stenosis, or cancer stage. The stent implantation success rate, relief of dysphagia and complication rate, and survival were assessed. RESULTS: The stent implantation success and short-term dysphagia relief rates were 100.0% in both groups. The mean survival time was 9.8 months and 4.8 months in groups A and B, respectively (p<0.01). However, no significant difference in pain (5/18) or esophageal restenosis (7/25) was found (both p>0.05). CONCLUSION: Dysphagia was relieved and survival was prolonged in advanced esophageal cancer cases treated with 125I particle-coated esophageal stents. This method may be superior to the traditional stents method.


Assuntos
Neoplasias Esofágicas/radioterapia , Radioisótopos do Iodo/uso terapêutico , Stents , Idoso , Idoso de 80 Anos ou mais , Transtornos de Deglutição/terapia , Neoplasias Esofágicas/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Stents/efeitos adversos
13.
Nat Commun ; 8: 14657, 2017 03 02.
Artigo em Inglês | MEDLINE | ID: mdl-28251985

RESUMO

Nondestructive retrieval of expensive carbon fibres (CFs) from CF-reinforced thermosetting advanced composites widely applied in high-tech fields has remained inaccessible as the harsh conditions required to recycle high-performance resin matrices unavoidably damage the structure and properties of CFs. Degradable thermosetting resins with stable covalent structures offer a potential solution to this conflict. Here we design a new synthesis scheme and prepare a recyclable CF-reinforced poly(hexahydrotriazine) resin matrix advanced composite. The multiple recycling experiments and characterization data establish that this composite demonstrates performance comparable to those of its commercial counterparts, and more importantly, it realizes multiple intact recoveries of CFs and near-total recycling of the principal raw materials through gentle depolymerization in certain dilute acid solution. To our best knowledge, this study demonstrates for the first time a feasible and environment-friendly preparation-recycle-regeneration strategy for multiple CF-recycling from CF-reinforced advanced composites.


Assuntos
Fibra de Carbono/química , Temperatura Alta , Reciclagem , Teste de Materiais , Polimerização , Resistência ao Cisalhamento , Estresse Mecânico , Propriedades de Superfície
14.
Chem Commun (Camb) ; 52(12): 2489-92, 2016 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-26735805

RESUMO

The pioneered construction of novel monodisperse hollow and yolk-shell structured periodic mesoporous polymer nanoparticles was reported by the development of an efficient reactive interface-guided co-assembly approach.

15.
Chem Commun (Camb) ; 52(4): 803-6, 2016 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-26571423

RESUMO

The interconnected ordered pore channels facilitate faster permeation of Li(+) ions during the charge-discharge process than the isolated ordered pore channels, resulting in significantly enhanced capacities, better rate capabilities and more remarkable cycling stability.

16.
Gene ; 575(2 Pt 2): 473-477, 2016 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-26376067

RESUMO

The GATA-binding protein 4 gene (GATA4) encodes a zinc-finger transcription factor that plays a key role in embryogenesis and cardiac development. Variants in the GATA4 gene have been implicated in several congenital heart diseases (CHD), such as the tetralogy of Fallot (ToF), atrial septal defect (ASD), ventricular septal defect (VSD), atrioventricular septal defect (AVSD), and dilated cardiomyopathy (DCM). We studied a four-generation Chinese ASD family and identified a novel GATA4 mutation (c.A899C, p.K300T) in all surviving affected members and two carriers with incomplete penetrance. Bioinformatics programs (PolyPhen-2, SIFT, and MutationTaster) predicted the mutation to be deleterious. The lysine at the mutation position was highly conserved from Drosophila to humans and was recognized as a methylation location in the GATA4 protein. The involvement of the lysine methylation in cardiogenesis by attenuating the transcriptional activity of GATA4 in mice has been previously examined. Our study broadens the mutation spectrum of the GATA4 gene and reveals for the first time a mutation at the methylation position of GATA4 associated with ASD.


Assuntos
Povo Asiático/genética , Fator de Transcrição GATA4/genética , Comunicação Interatrial/genética , Mutação , Adolescente , Adulto , Criança , China , Feminino , Predisposição Genética para Doença , Humanos , Lisina/metabolismo , Masculino , Pessoa de Meia-Idade , Linhagem , Penetrância , Análise de Sequência de DNA , Adulto Jovem
17.
Mol Med Rep ; 12(4): 5554-60, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26136151

RESUMO

Neuroblastoma (NB) is the most common solid extracranial tumor in children. However, the molecular mechanism of NB remains to be elucidated. In the present study, reverse transcription quantitative polymerase chain reaction data demonstrated that the expression of Sam68 was significantly upregulated in NB tissues compared with their matched adjacent normal tissues. Furthermore, it was revealed that reduced expression of miR­203 and increased expression of Sam68 co­existed in NB tissues. Knockdown of Sam68 reduced the proliferation, migration and invasion of human SK­N­SH and SH­SY5Y NB cells. Similarly, overexpression of miR­203 also inhibited the proliferation, migration and invasion of these two cell lines. It was further demonstrated that the protein expression level of Sam68 was negatively mediated by miR­203 in the SK­N­SH and SH­SY5Y NB cells. Additionally, data from a dual luciferase reporter assay confirmed that miR­203 directly targeted Sam68 by binding to its 3'­untranslated region. In conclusion, the present study suggested for the first time, to the best of our knowledge, that the aberrant downregulation of miR­203 may contribute to the aberrant upregulation of Sam68 in NB and that miR­203 has an inhibitory role in malignant progression of NB by targeting Sam68. The present study provided evidence to support miR-203/Sam68 as a novel diagnostic or therapeutic targets for NB.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Neoplasias Encefálicas/genética , Proteínas de Ligação a DNA/genética , Regulação Neoplásica da Expressão Gênica , MicroRNAs/genética , Neuroblastoma/genética , Proteínas de Ligação a RNA/genética , Regiões 3' não Traduzidas , Proteínas Adaptadoras de Transdução de Sinal/antagonistas & inibidores , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Sequência de Bases , Sítios de Ligação , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Criança , Proteínas de Ligação a DNA/antagonistas & inibidores , Proteínas de Ligação a DNA/metabolismo , Progressão da Doença , Humanos , MicroRNAs/agonistas , MicroRNAs/metabolismo , Dados de Sequência Molecular , Neuroblastoma/metabolismo , Neuroblastoma/patologia , Neuroblastoma/cirurgia , Oligonucleotídeos/genética , Oligonucleotídeos/metabolismo , RNA Interferente Pequeno/genética , RNA Interferente Pequeno/metabolismo , Proteínas de Ligação a RNA/antagonistas & inibidores , Proteínas de Ligação a RNA/metabolismo , Transdução de Sinais
18.
Nanoscale ; 7(9): 3971-5, 2015 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-25673004

RESUMO

A new class of nitrogen-doped ordered mesoporous carbon/silica (N-OMC/SiO2) nanocomposites was successfully fabricated via a multi-constituent co-assembly strategy. The N-OMC/SiO2 nanocomposite presented a unique interpenetrating carbon/silica structure whose carbon/silica interface is highly uniform, and thus demonstrated high capacity, good cycling and excellent rate properties.

19.
J Cardiovasc Pharmacol ; 64(4): 306-9, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25291495

RESUMO

OBJECTIVES: Marked interpatient variability exists in the blood pressure response to carvedilol, a nonselective ß-blocker. Here we evaluated the influence of 4 common polymorphisms in genes of the ß-adrenergic receptor on the antihypertensive efficacy of carvedilol in patients in a double-blinded monotherapy study. METHODS: Eighty-seven subjects with uncomplicated essential hypertensive (49% men; age = 52.2 ± 11.1 years) from Jilin province of China were enrolled in the study, and 5 of them discontinued the treatment due to adverse effects. Both systolic and diastolic blood pressures (DBPs) were measured before and after 7 days of treatment with carvedilol (10 mg/d). Genotypes of the ß1-adrenergic receptor (ADRB1 Ser49Gly and Arg389Gly) and ß2-adrenergic receptor (ADRB2 Gly16Arg and Glu27Gln) were determined by polymerase chain reaction with restriction fragment length polymorphism. RESULTS: Patients homozygous for ADRB1 Arg389 had an approximately 4-fold greater reduction in DBPs than those homozygous for ADRB1 Gly389 (10.61 vs. 2.62 mm Hg, P = 0.013). The ADRB1 haplotype was also a significant predictor of response, as patients with the Gly49Arg389/Ser49Arg389 haplotype pair had a 5.7-fold greater reduction in DBPs than those homozygous for the Ser49Gly389 haplotype (16.11 vs. 2.83 mm Hg, P = 0.0055). An association was not found between ADRB2 polymorphism and carvedilol responsiveness in antihypertensive therapy. CONCLUSIONS: This study provides the first evidence to support that ADRB1 polymorphisms play an important role in the DBPs response to carvedilol treatment in patients with essential hypertension.


Assuntos
Anti-Hipertensivos/uso terapêutico , Carbazóis/uso terapêutico , Hipertensão/tratamento farmacológico , Polimorfismo de Nucleotídeo Único , Propanolaminas/uso terapêutico , Receptores Adrenérgicos beta 1/genética , Anti-Hipertensivos/administração & dosagem , Anti-Hipertensivos/efeitos adversos , Pressão Sanguínea/efeitos dos fármacos , Carbazóis/administração & dosagem , Carbazóis/efeitos adversos , Carvedilol , China , Hipertensão Essencial , Feminino , Haplótipos , Heterozigoto , Homozigoto , Humanos , Hipertensão/genética , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Propanolaminas/administração & dosagem , Propanolaminas/efeitos adversos
20.
BMC Med Genet ; 15: 77, 2014 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-24997722

RESUMO

BACKGROUND: Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized by early-onset contractures of tendons, progressive muscular weakness and cardiomyopathy. To date, 223 mutations have been reported in EMD gene and the majority of them caused a predominant skeletal muscular phenotype. In this study, we identified a novel deletion mutation in EMD exon 1, which results in almost a complete loss of emerin protein in a large Chinese family. However, the patients suffered severe dilated cardiomyopathy (DCM) but very mild skeletal muscle disorder. CASE PRESENTATION: Whole exome sequencing (WES) and linkage analysis were performed to identify the underlying mutation in a Chinese DCM family spanning five generations. A missense variation in the GPR50 gene was found co-segregated with the disease phenotype, whereas no functional alteration was detected in the variant GPR50 protein. When analyzing the failure sequences in the exome sequencing data, a novel deletion mutation (c.26_39delATACCGAGCTGACC) in EMD exon 1, was identified in this family. Different from the typical clinical features caused by most reported EMD mutations, patients in our study presented very mild skeletal muscle degeneration that had not been diagnosed until the mutation was found. CONCLUSION: We described a family with rare clinical presentations caused by a novel EMD deletion mutation. Our findings broaden the heterogeneous spectrum of phenotypes attributed to EMD mutations and provide new insight to explain the genotype-phenotype correlations between EMD mutations and EDMD symptoms.


Assuntos
Cardiomiopatia Dilatada/genética , Proteínas de Membrana/genética , Distrofia Muscular de Emery-Dreifuss/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Receptores Acoplados a Proteínas G/genética , Deleção de Sequência , China , Exoma , Éxons , Feminino , Estudos de Associação Genética , Heterogeneidade Genética , Ligação Genética , Variação Genética , Genótipo , Humanos , Masculino , Distrofia Muscular de Emery-Dreifuss/patologia , Linhagem , Fenótipo , Análise de Sequência de DNA
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...