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1.
Hum Genomics ; 18(1): 103, 2024 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-39285482

RESUMO

BACKGROUND: Deletion or duplication in the DMD gene is one of the most common causes of Duchenne and Becker muscular dystrophy (DMD/BMD). However, the pathogenicity of complex rearrangements involving DMD, especially segmental duplications with unknown breakpoints, is not well understood. This study aimed to evaluate the structure, pattern, and potential impact of rearrangements involving DMD duplication. METHODS: Two families with DMD segmental duplications exhibiting phenotypical differences were recruited. Optical genome mapping (OGM) was used to explore the cryptic pattern of the rearrangements. Breakpoints were validated using long-range polymerase chain reaction combined with next-generation sequencing and Sanger sequencing. RESULTS: A multi-copy duplication involving exons 64-79 of DMD was identified in Family A without obvious clinical symptoms. Family B exhibited typical DMD neuromuscular manifestations and presented a duplication involving exons 10-13 of DMD. The rearrangement in Family A involved complex in-cis tandem repeats shown by OGM but retained a complete copy (reading frame) of DMD inferred from breakpoint validation. A reversed insertion with a segmental repeat was identified in Family B by OGM, which was predicted to disrupt the normal structure and reading frame of DMD after confirming the breakpoints. CONCLUSIONS: Validating breakpoint and rearrangement pattern is crucial for the functional annotation and pathogenic classification of genomic structural variations. OGM provides valuable insights into etiological analysis of DMD/BMD and enhances our understanding for cryptic effects of complex rearrangements.


Assuntos
Distrofina , Éxons , Distrofia Muscular de Duchenne , Linhagem , Fenótipo , Humanos , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/patologia , Distrofina/genética , Masculino , Éxons/genética , Feminino , Mapeamento Cromossômico , Rearranjo Gênico/genética , Criança , Duplicações Segmentares Genômicas/genética , Sequenciamento de Nucleotídeos em Larga Escala , Duplicação Gênica/genética , Adolescente
2.
Sensors (Basel) ; 23(12)2023 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-37420631

RESUMO

We established an experimental apparatus by combining polarized light scattering and angle-resolved light scattering measurement technology to rapidly identify the shape of an individual aerosol particle. The experimental data of scattered light of Oleic acid, rod-shaped Silicon dioxide, and other particles with typical shape characteristics were analyzed statistically. To better study the relationship between the shape of particles and the properties of scattered light, the partial least squares discriminant analysis (PLS-DA) method was used to analyze the scattered light of aerosol samples based on the size screening of particles, and the shape recognition and classification method of the individual aerosol particle was established based on the analysis of the spectral data after nonlinear processing and grouping by particle size with the area under the receiver operating characteristic curve (AUC) as reference. The experimental results show that the proposed classification method has a good discrimination ability for spherical, rod-shaped, and other non-spherical particles, which can provide more information for atmospheric aerosol measurement, and has application value for traceability and exposure hazard assessment of aerosol particles.


Assuntos
Tamanho da Partícula , Nefelometria e Turbidimetria , Aerossóis
3.
Int J Mol Sci ; 21(1)2019 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-31861685

RESUMO

Soybean is one of the most important food and oil crops in the world. Plant height (PH) and the number of nodes on the main stem (NNMS) are quantitative traits closely related to soybean yield. In this study, we used 208 chromosome segment substitution lines (CSSL) populations constructed using "SN14" and "ZYD00006" for quantitative trait locus (QTL) mapping of PH and NNMS. Combined with bulked segregant analysis (BSA) by extreme materials, 8 consistent QTLs were identified. According to the gene annotation of the QTL interval, a total of 335 genes were obtained. Five of which were associated with PH and NNMS, potentially representing candidate genes. RT-qPCR of these 5 candidate genes revealed two genes with differential relative expression levels in the stems of different materials. Haplotype analysis showed that different single nucleotide polymorphisms (SNPs) between the excellent haplotypes in Glyma.04G251900 and Glyma.16G156700 may be the cause of changes in these traits. These results provide the basis for research on candidate genes and marker-assisted selection (MAS) in soybean breeding.


Assuntos
Cromossomos de Plantas/genética , Glycine max/crescimento & desenvolvimento , Locos de Características Quantitativas , Mapeamento Cromossômico , Haplótipos , Melhoramento Vegetal , Caules de Planta/genética , Caules de Planta/crescimento & desenvolvimento , Polimorfismo de Nucleotídeo Único , Glycine max/genética
4.
Hemoglobin ; 40(6): 405-410, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28361591

RESUMO

Increased Hb F levels can ameliorate the symptoms of ß-thalassemia (ß-thal). Due to the genetic heterogenicity of ß-thal, the relationship between genetic variants in modifier genes and Hb F level has been studied in different populations. The Chinese Zhuang has the second largest population in China and has 6.78% prevalence of ß-thal. However, the effects of these single nucleotide polymorphism (SNP) variants on the Hb F levels of ß-thal intermedia (ß-TI) patients in this population have not been reported. To explore the association between modifier loci (ß-globin gene cluster, HBS1L-MYB intergenic region and BCL11A) and Hb F levels in Chinese Zhuang ß-TI patients, 96 unrelated ß-TI patients (50 males and 46 females) with different Hb F levels were recruited and genotyped by mass spectrometry. A total of 13 SNPs were confirmed to be in a significant relationship with Hb F levels in this population. Of these, high-risk genotypes of six Hb F-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high Hb F levels, especially for SNPs in linkage disequilibrium. One novel Hb F-associated SNP, rs189984760, was identified in our study. Our findings will be of valuable reference for correlation between modifier genes and Hb F in Chinese Zhuang populations and may lead to better understand the modifying mechanisms for ß-thal.


Assuntos
Proteínas de Transporte/genética , Hemoglobina Fetal/análise , Proteínas de Ligação ao GTP/genética , Variação Genética , Proteínas de Choque Térmico HSP70/genética , Proteínas Nucleares/genética , Fatores de Alongamento de Peptídeos/genética , Proteínas Proto-Oncogênicas c-myb/genética , Talassemia beta/genética , Adolescente , Adulto , Povo Asiático , Criança , Pré-Escolar , DNA Intergênico , Feminino , Genes Modificadores , Humanos , Masculino , Proteínas Repressoras , Adulto Jovem
5.
Opt Express ; 22(5): A320-7, 2014 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-24800288

RESUMO

Nanopillar AlGaN/GaN multiple quantum wells ultraviolet light-emitting diodes (LEDs) were fabricated by nanosphere lithography and dry-etching. The optical properties of the nanopillar LEDs were characterized by both temperature-dependent and time-resolved photoluminescence measurements. Compared to an as-grown sample, the nanopillar sample has a PL emission peak blue-shift of 7 meV, a 42% enhanced internal quantum efficiency at room temperature and a reduced radiative recombination lifetime from 870 picosecond to 621 picosecond at 7K. These results are directly from the suppressed quantum confined stark effect that is due to the strain relaxation in the nanopillar MQWs, further revealed by micro-Raman measurement. Additionally, finite-difference time domain simulation also proves better light extraction efficiency in the nanopillar LEDs.

6.
Opt Express ; 22 Suppl 4: A1093-100, 2014 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-24978072

RESUMO

Homoepitaxially grown InGaN/GaN light emitting diodes (LEDs) with SiO2 nanodisks embedded in n-GaN and p-GaN as photonic crystal (PhC) structures by nanospherical-lens photolithography are presented and investigated. The introduction of SiO2 nanodisks doesn't produce the new dislocations and doesn't also result in the electrical deterioration of PhC LEDs. The light output power of homoepitaxial LEDs with embedded PhC and double PhC at 350 mA current is increased by 29.9% and 47.2%, respectively, compared to that without PhC. The corresponding light radiation patterns in PhC LEDs on GaN substrate show a narrow beam shape due to strong guided light extraction, with a view angle reduction of about 30°. The PhC LEDs are also analyzed in detail by finite-difference time-domain simulation (FDTD) to further reveal the emission characteristics.

7.
Opt Express ; 22 Suppl 2: A320-7, 2014 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-24922241

RESUMO

Nanopillar AlGaN/GaN multiple quantum wells ultraviolet light-emitting diodes (LEDs) were fabricated by nanosphere lithography and dry-etching. The optical properties of the nanopillar LEDs were characterized by both temperature-dependent and time-resolved photoluminescence measurements. Compared to an as-grown sample, the nanopillar sample has a PL emission peak blue-shift of 7 meV, a 42% enhanced internal quantum efficiency at room temperature and a reduced radiative recombination lifetime from 870 picosecond to 621 picosecond at 7K. These results are directly from the suppressed quantum confined stark effect that is due to the strain relaxation in the nanopillar MQWs, further revealed by micro-Raman measurement. Additionally, finite-difference time domain simulation also proves better light extraction efficiency in the nanopillar LEDs.

8.
Opt Lett ; 39(2): 379-82, 2014 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-24562151

RESUMO

Large-scale SiO2 nanodisk arrays fabricated by nanospherical-lens lithography are embedded in the n-GaN and p-GaN layer of an InGaN/GaN light-emitting diode (LED) to produce photonic crystal (PC) structures for efficiency improvement. Following the obvious reduction of view angle, the light output power of bottom, top, and double PC LEDs is enhanced by 74.5%, 60.1%, and 88.2% compared to that of a conventional LED at 350 mA current, respectively. Despite the enhanced external quantum efficiency due to improved crystalline quality and light extraction, these PC LEDs exhibit lower peak efficiency current density and more serious efficiency droop than conventional LEDs. Combined with the rate equation, the droop mechanisms of PC LEDs have also been investigated experimentally and by simulation.

9.
J Hazard Mater ; 473: 134634, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-38795481

RESUMO

The photocatalytic reduction of nitrate has received considerable attention due to its high efficiency and environmentally friendly nature. The excessive addition of hole scavengers is the most commonly used method to increase the nitrate reduction efficiency. However, achieving high selectivity in the photocatalytic reduction of nitrate to N2 with low concentration of hole scavengers remains challenging. In this study, the SrFexTi1-xO3/TiO2 S-scheme heterojunction photocatalysts with many Lewis acidic adsorption sites have been developed. The experimental results demonstrated that the incorporation of 6% Fe into SrFe0.06Ti0.94O3/TiO2 (SFTO6) resulted in the nitrate conversion rate of 97.68% and the N2 selectivity reached 96.35% with 25 mmol/L formic acid. Moreover, it also exhibited excellent stability and recycle ability. After 5 cycles, SFTO6 still exhibited a stable photocatalytic denitration efficiency of 92.94%, highlighting its potential for practical application. Through comprehensive mechanistic investigations, enhancing direct reduction process is considered the key to its high reduction efficiency with low formic acid. And the Lewis acidic adsorption sites enhance N2 selectivity by enriching NOx- on the surface of the material. Overall, this study provides a novel approach for achieving efficient photocatalytic reduction of nitrate to N2 under conditions with low concentration of hole scavengers.

10.
J Mater Chem B ; 12(17): 4162-4171, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38619400

RESUMO

Sonodynamic therapy (SDT) has been recognized as a promising treatment for cancer due to its advantages of superior specificity, non-invasiveness, and deep tissue penetration. However, the antitumor effect of SDT remains restricted by the limited generation of reactive oxygen species (ROS) due to the lack of highly efficient sonosensitizers. In this work, we developed the novel sonosensitizer Pt/CeO2-xSx by constructing oxygen defects through S doping and Pt loading in situ. Large amounts of oxygen defects have been obtained by S doping, endowing Pt/CeO2-xSx with the ability to suppress electron-hole recombination, further promoting ROS production. Moreover, the introduction of Pt nanoparticles can not only produce oxygen in situ for relieving hypoxia but also form a Schottky heterojunction with CeO2-xSx for further inhibiting electron-hole recombination. In addition, Pt/CeO2-xSx could effectively deplete overexpressed glutathione (GSH) via redox reactions, amplifying oxidative stress in the tumor microenvironment (TME). Combined with the excellent POD-mimetic activity, Pt/CeO2-xSx can achieve highly efficient synergistic therapy of SDT and chemodynamic therapy (CDT). All these findings demonstrated that Pt/CeO2-xSx has great potential for cancer therapy, and this work provides a promising direction for designing and constructing efficient sonosensitizers.


Assuntos
Antineoplásicos , Cério , Cério/química , Cério/farmacologia , Humanos , Animais , Antineoplásicos/farmacologia , Antineoplásicos/química , Camundongos , Espécies Reativas de Oxigênio/metabolismo , Terapia por Ultrassom , Platina/química , Platina/farmacologia , Ensaios de Seleção de Medicamentos Antitumorais , Proliferação de Células/efeitos dos fármacos , Tamanho da Partícula , Linhagem Celular Tumoral , Microambiente Tumoral/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Camundongos Endogâmicos BALB C , Neoplasias/tratamento farmacológico , Neoplasias/terapia
11.
Adv Mater ; 36(24): e2312124, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38314930

RESUMO

Increasing cellular immunogenicity and reshaping the immune tumor microenvironment (TME) are crucial for antitumor immunotherapy. Herein, this work develops a novel single-atom nanozyme pyroptosis initiator: UK5099 and pyruvate oxidase (POx)-co-loaded Cu-NS single-atom nanozyme (Cu-NS@UK@POx), that not only trigger pyroptosis through cascade biocatalysis to boost the immunogenicity of tumor cells, but also remodel the immunosuppressive TME by targeting pyruvate metabolism. By replacing N with weakly electronegative S, the original spatial symmetry of the Cu-N4 electron distribution is changed and the enzyme-catalyzed process is effectively regulated. Compared to spatially symmetric Cu-N4 single-atom nanozymes (Cu-N4 SA), the S-doped spatially asymmetric single-atom nanozymes (Cu-NS SA) exhibit stronger oxidase activities, including peroxidase (POD), nicotinamide adenine dinucleotide (NADH) oxidase (NOx), L-cysteine oxidase (LCO), and glutathione oxidase (GSHOx), which can cause enough reactive oxygen species (ROS) storms to trigger pyroptosis. Moreover, the synergistic effect of Cu-NS SA, UK5099, and POx can target pyruvate metabolism, which not only improves the immune TME but also increases the degree of pyroptosis. This study provides a two-pronged treatment strategy that can significantly activate antitumor immunotherapy effects via ROS storms, NADH/glutathione/L-cysteine consumption, pyruvate oxidation, and lactic acid (LA)/ATP depletion, triggering pyroptosis and regulating metabolism. This work provides a broad vision for expanding antitumor immunotherapy.


Assuntos
Imunoterapia , Piroptose , Ácido Pirúvico , Ácido Pirúvico/metabolismo , Ácido Pirúvico/química , Piroptose/efeitos dos fármacos , Humanos , Animais , Camundongos , Linhagem Celular Tumoral , Microambiente Tumoral/efeitos dos fármacos , Espécies Reativas de Oxigênio/metabolismo , Cobre/química , Piruvato Oxidase/metabolismo , Piruvato Oxidase/química , Neoplasias/terapia , Neoplasias/tratamento farmacológico , Neoplasias/metabolismo
12.
Opt Express ; 21(26): 32582-8, 2013 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-24514851

RESUMO

We report inducing an array of dumbbell-like air-voids inside the sapphire substrate in InGaN-based light-emitting diodes (LEDs) to improve the light extraction from LED device by a picosecond (Ps) pulse laser. At an injection current of 100 mA, the light output power (LOP) of packaged LEDs with laser-induced air-voids can be improved by 24.7% compared with conventional LEDs. Far-field radiation pattern has verified that this great improvement in LOP is due to the light scattering occurred at the interface of sapphire/air-voids. Current-Voltage curves show that the laser processing of air-voids will not degrade the LED electrical properties. Furthermore, leakage current at a level of ~5 nA at -10V has demonstrated an enhancement in the LED electrical performance with laser-induced air-voids. Second focusing mechanism, which is originated in the local heating effect around the laser focus, has been proposed to explain the formation of dumbbell-like air-voids.

13.
Opt Express ; 21(21): 25373-80, 2013 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-24150379

RESUMO

Size-controllable p-GaN hexagonal nanopyramids (HnPs)-photonic crystal (PhC) structures were selectively grown on flat p-GaN layer for the elimination of total internal reflection of light-emitting diodes (LEDs). The LEDs with HnPs-PhC of 46.3% bottom fill factor (PhC lattice constant is 730 nm) showed an improved light output power by 99.9% at forward current of 350 mA compared to the reference LEDs with flat p-GaN layer. We confirmed the effect of HnPs-PhC with different bottom fill factors and the effect of nanopyramid-shaped and nanocolumn-shaped PhC on the light-extraction of LEDs was also investigated by using three-dimensional finite-difference time-domain simulations.

14.
Opt Express ; 20(6): 6808-15, 2012 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-22418563

RESUMO

We report a multiple laser stealth dicing (multi-LSD) method to improve the light extraction efficiency (LEE) of InGaN-based light-emitting diodes (LEDs) using a picosecond (Ps) laser. Compared with conventional LEDs scribed by a nanosecond (Ns) laser and single stealth-diced LEDs, the light output power (LOP) of the LEDs using multi-LSD method can be improved by 26.5% and 11.2%, respectively. The enhanced LOP is due to the increased side emission from the large-area roughened sidewalls of the sapphire substrates fabricated in the multi-LSD process. Numerical simulation results show that the multi-LSD process has little thermal damages to the multiple quantum wells (MQWs) of the LEDs.


Assuntos
Lasers , Iluminação/instrumentação , Semicondutores , Cor , Desenho Assistido por Computador , Transferência de Energia , Desenho de Equipamento , Análise de Falha de Equipamento
15.
Environ Sci Pollut Res Int ; 29(52): 78683-78697, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35696064

RESUMO

The aim of the study is to test the nexus between oil prices, energy risk exposer, and financial stability to recommend the implications for the period of COVID-19 crises. The study findings show that a systemic macroeconomic simulation that combines with the 17% oil prices and 26% energy risk exposure at household item demand gives a rise to energy subsidies at 18.14% and it contributes to make energy financing as efficient as 38.3% in study context. By this, the oil prices and energy risk exposure repercussions caused significant connection with financial stability. Utilization of oil-importing and oil-exporting economies necessitates the use of energy. Energy and capital are complementary in manufacturing. Following the study findings, we suggested and adjusted the energy risk exposure framework to take into account. The findings show that allocating oil price-related subsidy to enterprises yields the best policy results. However, the benefit to society as a whole is quite small. Additional analysis results indicate that in a less energy-dependent sector, having no subsidies would be the best strategy. On such benefits, different policy implications are also suggested for associated individuals to sustain financial stability.


Assuntos
COVID-19 , Humanos , Pandemias , Comércio , Políticas
16.
Front Genet ; 13: 889795, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35692823

RESUMO

Type III effectors secreted by rhizobia regulate nodulation in the host plant and are important modulators of symbiosis between rhizobia and soybean (Glycine max), although the underlying mechanisms are poorly understood. Here, we studied the type III effector NopAA in Sinorhizobium fredii HH103, confirming its secretion into the extracellular environment under the action of genistein. The enzyme activity of NopAA was investigated in vitro, using xyloglucan and ß-glucan as substrates. NopAA functions were investigated by the generation of a NopAA mutant and the effects of NopAA deficiency on symbiosis were analyzed. Soybean genes associated with NopAA were identified in a recombinant inbred line (RIL) population and their functions were verified. NopAA was confirmed to be a type III effector with glycosyl hydrolase activity, and its mutant did not promote nodulation. Quantitative trait locus (QTL) analysis identified 10 QTLs with one, Glyma.19g074200 (GmARP), found to be associated with NopAA and to positively regulate the establishment of symbiosis. All these results support the hypothesis that type III effectors interact with host proteins to regulate the establishment of symbiosis and suggest the possibility of manipulating the symbiotic soybean-rhizobia interaction to promote efficient nitrogen fixation.

17.
Front Plant Sci ; 13: 869455, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35783974

RESUMO

Genetic populations provide the basis for genetic and genomic research, and chromosome segment substitution lines (CSSLs) are a powerful tool for the fine mapping of quantitative traits, new gene mining, and marker-assisted breeding. In this study, 213 CSSLs were obtained by self-crossing, backcrossing, and marker-assisted selection between cultivated soybean (Glycine max [L.] Merr.) variety Suinong14 (SN14) and wild soybean (Glycine soja Sieb. et Zucc.) ZYD00006. The genomes of these 213 CSSLs were resequenced and 580,524 single-nucleotide polymorphism markers were obtained, which were divided into 3,780 bin markers. The seed-pod-related traits were analyzed by quantitative trait locus (QTL) mapping using CSSLs. A total of 170 QTLs were detected, and 32 QTLs were detected stably for more than 2 years. Through epistasis analysis, 955 pairs of epistasis QTLs related to seed-pod traits were obtained. Furthermore, the hundred-seed weight QTL was finely mapped to the region of 64.4 Kb on chromosome 12, and Glyma.12G088900 was identified as a candidate gene. Taken together, a set of wild soybean CSSLs was constructed and upgraded by a resequencing technique. The seed-pod-related traits were studied by bin markers, and a candidate gene for the hundred-seed weight was finely mapped. Our results have revealed the CSSLs can be an effective tool for QTL mapping, epistatic effect analysis, and gene cloning.

18.
Front Genet ; 13: 1056127, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36506332

RESUMO

Cornelia de Lange syndrome (CdLS) is an autosomal dominant or X-linked genetic disease with significant genetic heterogeneity. Variants of the NIPBL gene are responsible for CdLS in 60% of patients. Herein, we report the case of a patient with CdLS showing distinctive facial features, microcephaly, developmental delay, and growth retardation. Whole exome sequencing was performed for the patient, and a novel de novo heterozygous synonymous variant was identified in the deep region of exon 40 in the NIPBL gene (NM_133433.4: c. 6819G > T, p. Gly2273 = ). The clinical significance of the variant was uncertain according to the ACMG/AMP guidelines; however, based on in silico analysis, it was predicted to alter mRNA splicing. To validate the prediction, a reverse transcriptase-polymerase chain reaction was conducted. The variant activated a cryptic splice donor, generating a short transcript of NIPBL. A loss of 137 bp at the 3' end of NIPBL exon 40 was detected, which potentially altered the open reading frame by inserting multiple premature termination codons. Quantitative real-time PCR analysis showed that the ratio of the transcription level of the full-length transcript to that of the altered short transcript in the patient was 5:1, instead of 1:1. These findings may explain the relatively mild phenotype of the patient, regardless of the loss of function of the truncated protein due to a frameshift in the mRNA. To the best of our knowledge, this study is the first to report a synonymous variant in the deep exon regions of the NIPBL gene responsible for CdLS. The identified variant expands the mutational spectrum of the NIPBL gene. Furthermore, synonymous variations may be pathogenic, which should not be ignored in the clinical and genetic diagnosis of the disease.

19.
Guang Pu Xue Yu Guang Pu Fen Xi ; 31(6): 1683-7, 2011 Jun.
Artigo em Zh | MEDLINE | ID: mdl-21847958

RESUMO

Taking solar source as radiation in the near-infrared high-resolution absorption spectrum is widely used in remote sensing of atmospheric parameters. The present paper will take retrieval of the concentration of CO2 for example, and study the effect of solar spectra resolution. Retrieving concentrations of CO2 by using high resolution absorption spectra, a method which uses the program provided by AER to calculate the solar spectra at the top of atmosphere as radiation and combine with the HRATS (high resolution atmospheric transmission simulation) to simulate retrieving concentration of CO2. Numerical simulation shows that the accuracy of solar spectrum is important to retrieval, especially in the hyper-resolution spectral retrieavl, and the error of retrieval concentration has poor linear relation with the resolution of observation, but there is a tendency that the decrease in the resolution requires low resolution of solar spectrum. In order to retrieve the concentration of CO2 of atmosphere, the authors' should take full advantage of high-resolution solar spectrum at the top of atmosphere.

20.
Mol Genet Genomic Med ; 9(6): e1683, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33978323

RESUMO

BACKGROUND: Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth. METHODS: An affected dizygotic twin pair from a non-consanguineous Chinese family presented with severe asphyxia, lethargy and no response to stimuli. The dysmorphic features included prominent nasal bridge, telecanthus, excessive hip abduction, limb edema, absent palmar and sole creases, acromelia, bilateral clubfoot, appendicular hypertonia and cryptorchidism. Both infants died in the first week of life. Whole-exome sequencing was used to identify the causative gene. RESULTS: Whole-exome sequencing identified a recurrent missense variant c.1516A>C and a novel splice-acceptor variant c.1153-1G>C in KLHL40 gene in both siblings. We estimated the disease incidence in Southern Chinese population to be 2.47/100,000 based on the cumulative allele frequency of pathogenic and likely pathogenic variants in our internal database. CONCLUSION: Our study expanded the mutation spectrum of KLHL40 and the condition could have been underdiagnosed before. We identified a recurrent missense variant c.1516A>C and provided evidence further supporting the founder effect of this variant in Southern Chinese population. Given the severity of the condition and the relative high incidence, this not-so-rare disorder should be included in expanded carrier screening panel for Chinese population.


Assuntos
Proteínas Musculares/genética , Miopatias da Nemalina/genética , Fenótipo , Frequência do Gene , Humanos , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Miopatias da Nemalina/patologia , Gêmeos Dizigóticos
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