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CONTEXT: The pituitary gland is key for childhood growth, puberty, and metabolism. Pituitary dysfunction is associated with a spectrum of phenotypes, from mild to severe. Congenital Hypopituitarism (CH) is the most commonly reported pediatric endocrine dysfunction with an incidence of 1:4000, yet low rates of genetic diagnosis have been reported. OBJECTIVE: We aimed to unveil the genetic etiology of CH in a large cohort of patients from Argentina. METHODS: We performed whole exome sequencing of 137 unrelated cases of CH, the largest cohort examined with this method to date. RESULTS: Of the 137 cases, 19.1% and 16% carried pathogenic or likely pathogenic variants in known and new genes, respectively, while 28.2% carried variants of uncertain significance. This high yield was achieved through the integration of broad gene panels (genes described in animal models and/or other disorders), an unbiased candidate gene screen with a new bioinformatics pipeline (including genes high loss of function intolerance), and analysis of copy number variants. Three novel findings emerged. First, the most prevalent affected gene encodes the cell adhesion factor ROBO1. Affected children had a spectrum of phenotypes, consistent with a role beyond pituitary stalk interruption syndrome. Second, we found that CHD7 mutations also produce a phenotypic spectrum, not always associated with full CHARGE syndrome. Third, we add new evidence of pathogenicity in the genes PIBF1 and TBC1D32, and report 13 novel candidate genes associated with CH (e.g. PTPN6, ARID5B). CONCLUSION: Overall, these results provide an unprecedented insight into the diverse genetic etiology of hypopituitarism.
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Background and Objectives: Exome sequencing (ES) demonstrates a 20-50 percent diagnostic yield for patients with a suspected monogenic neurologic disease. Despite the proven efficacy in achieving a diagnosis for such patients, multiple barriers for obtaining exome sequencing remain. This study set out to assess the efficacy of ES in patients with primary neurologic phenotypes who were appropriate candidates for testing but had been unable to pursue clinical testing. Methods: A total of 297 patients were identified from the UCLA Clinical Neurogenomics Research Center Biobank, and ES was performed, including bioinformatic assessment of copy number variation and repeat expansions. Information regarding demographics, clinical indication for ES, and reason for not pursuing ES clinically were recorded. To assess diagnostic efficacy, variants were interpreted by a multidisciplinary team of clinicians, bioinformaticians, and genetic counselors in accordance with the American College of Medical Genetics and Genomics variant classification guidelines. We next examined the specific barriers to testing for these patients, including how frequently insurance-related barriers such as coverage denials and inadequate coverage of cost were obstacles to pursuing exome sequencing. Results: The cohort primarily consisted of patients with sporadic conditions (n = 126, 42.4%) of adult-onset (n = 239, 80.5%). Cerebellar ataxia (n = 225, 75.8%) was the most common presenting neurologic phenotype. Our study found that in this population of mostly adult patients with primary neurologic phenotypes that were unable to pursue exome sequencing clinically, 47 (15.8%) had diagnostic results while an additional 24 patients (8.1%) had uncertain results. Of the 297 patients, 206 were initially recommended for clinical exome but 88 (42.7%) could not pursue ES because of insurance barriers, of whom 14 (15.9%) had diagnostic findings, representing 29.8% of all patients with diagnostic findings. In addition, the incorporation of bioinformatic repeat expansion testing was valuable, identifying a total of 8 pathogenic repeat expansions (17.0% of all diagnostic findings) including 3 of the common spinocerebellar ataxias and 2 patients with Huntington disease. Discussion: These findings underscore the importance and value of clinical ES as a diagnostic tool for neurogenetic disease and highlight key barriers that prevent patients from receiving important clinical information with potential treatment and psychosocial implications for patients and family members.
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BACKGROUND: Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder. Affected individuals may carry a heterozygous variant or homozygous/compound heterozygous variants and those with biallelic pathogenic variants present more severe symptoms. METHOD: We report an Egyptian family with familial hypercholesterolemia. Both the proband and parents have the disorder while a sibling is unaffected. Exome sequencing was performed to identify the causal variant. RESULTS: LINE-1 insertion in exon 7 of LDLR was identified. Both parents have a heterozygous variant while the proband has a homozygous variant. The unaffected sibling did not carry the variant. DISCUSSION: This insertion may contribute to the high prevalence of hypercholesterolemia in Egypt and the finding underscores the importance of implementing mobile element insertion caller in routine bioinformatics pipeline.
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Hipercolesterolemia , Hiperlipoproteinemia Tipo II , Humanos , Biologia Computacional , Egito , Éxons , Hiperlipoproteinemia Tipo II/genética , Elementos Nucleotídeos Longos e DispersosRESUMO
The electro-Fenton (EF) based on gas-diffusion electrodes (GDEs) reveals promising application prospective towards recalcitrant organics degradation because such GDEs often yields superior H2O2 generation efficiency and selectivity. However, the low efficiency of Fe2+/Fe3+ cycle with GDEs is always considered to be the limiting step for the EF process. In this study, activated carbon fiber (ACF) was firstly employed as co-catalyst to facilitate the performance of antibiotic cefaclor (CEC) decomposition in EF process. It was found that the addition of ACF co-catalyst achieved a rapid Fe2+/Fe3+ cycling, which significantly enhanced Fenton's reaction and hydroxyl radicals (â¢OH) generation. X-ray photoelectron spectroscopy (XPS) results indicated that the functional groups on ACF surface are related to the conversion of Fe3+ into Fe2+. Moreover, DMSO probing experiment confirmed the enhanced â¢OH production in EF + ACF system compared to conventional EF system. When inactive BDD and Ti4O7/Ti anodes were paired to EF system, the addition of ACF could significantly improve mineralization degree. However, a large amount of toxic byproducts, including chlorate (ClO3-) and perchlorate (ClO4-), were generated in these EF processes, especially for BDD anode, due to their robust oxidation capacity. Higher mineralization efficiency and less toxic ClO4- generation were obtained in the EF + ACF process with Ti4O7/Ti anode. This presents a novel alternative for efficient chloride-containing organic removal during wastewater remediation.
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Antibacterianos , Fibra de Carbono , Cefaclor , Eletrodos , Peróxido de Hidrogênio , Ferro , Poluentes Químicos da Água , Fibra de Carbono/química , Antibacterianos/química , Peróxido de Hidrogênio/química , Poluentes Químicos da Água/química , Ferro/química , Cefaclor/química , Catálise , Carvão Vegetal/química , Técnicas Eletroquímicas/métodosRESUMO
Stretchable sensors have been widely investigated and developed for the purpose of human motion detection, touch sensors, and healthcare monitoring, typically converting mechanical/structural deformation into electrical signals. The viscoelastic strain of stretchable materials often results in nonlinear stress-strain characteristics over a broad range of strains, consequently making the stretchable sensors at the body joints less accurate in predicting and recognizing human gestures. Accurate recognition of human gestures can be further deteriorated by environmental changes such as temperature and humidity. Here, we demonstrated an environment-adaptable high stress-strain linearity (up to ε = 150%) and high-durability (>100,000 cycles) stretchable sensor conformally laminated onto the body joints for human gesture recognition. The serpentine configuration of our ionic liquid-based stretchable film enabled us to construct broad data sets of mechanical strain and temperature changes for machine learning-based gesture recognition. Signal recognition and training of distinct strains and environmental stimuli using a machine learning-based algorithm analysis successfully measured and predicted the joint motion in a temperature-changing environment with an accuracy of 92.86% (R-squared). Therefore, we believe that our serpentine-shaped ion gel-based stretchable sensor harmonized with machine-learning analysis will be a significant achievement toward environmentally adaptive and multianalyte sensing applications. Our proposed machine learning-enabled multisensor system may enable the development of future electronic devices such as wearable electronics, soft robotics, electronic skin, and human-machine interaction systems.
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Robótica , Dispositivos Eletrônicos Vestíveis , Humanos , Gestos , Movimento (Física) , EletrônicaRESUMO
OBJECTIVE: Intellectual developmental disorder (IDD) type 5 is an autosomal dominant (AD) disorder and is characterized by intellectual disability (ID), psychomotor developmental delay, variable autism phenotypes, microcephaly, and seizure. IDD can be caused by mutations in the SYNGAP1 gene, which encodes a Ras GTPase-activating protein. This study revealed a novel de novo nonsense variant in SYNGAP1. The identification of such variants is essential for genetic counseling in patients and their families. METHODS: Exome sequencing implicated the causative variant. Sanger sequencing and cosegregation analyses were used to confirm the variant. Multiple in silico analysis tools were applied to interpret the variant using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines. RESULTS: The de novo NM_006772.3(SYNGAP1):c.3685C>T variant was identified in an 11-year-old boy with severe intellectual disability, neurodevelopmental delay, speech disorder, ataxia, specific dysmorphic facial features, and aggressive behavior. CONCLUSION: The current study findings expand the existing knowledge of variants in SYNGAP1 that have been previously associated with nonsyndromic intellectual disability and autism, extending the spectrum of phenotypes associated with this gene. The data have implications for genetic diagnosis and counseling in similar phenotypic presentations.
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Deficiência Intelectual , Proteínas Ativadoras de ras GTPase , Criança , Humanos , Masculino , Genômica , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Irã (Geográfico) , Mutação , Fenótipo , Proteínas Ativadoras de ras GTPase/genéticaRESUMO
BACKGROUND: The chromodomain helicase DNA-binding protein 2 (CHD2) is a member of the ATP-dependent chromatin remodelling family of proteins, which are critical for the assembly and regulation of chromatin. De novo variants and deletions in the CHD2 gene have been associated with childhood-onset developmental and epileptic encephalopathies type 94 (DEE 94). This study reports a novel deleterious de novo heterozygous frameshift insertion variant in the CHD2 gene. METHODS: The causative variant was diagnosed using whole-exome sequencing. Sanger sequencing and cosegregation analysis were applied to confirm the candidate variant. Multiple in silico analysis tools were employed to interpret the variant using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines. RESULTS: A de novo deleterious variant, NM_001271.4:c.1570dup (NP_001262.3:p.Ser524PhefsTer30), in the CHD2 gene, was identified in a 16-year-old boy with an intellectual and developmental disability, seizures and speech problems. The de novo occurrence of the variant was confirmed by segregation analysis in the family. CONCLUSION: The findings of this study expand the existing knowledge of variants of the CHD2 gene and provide a detailed phenotype associated with this gene. These data could have implications for genetic diagnosis and counselling in similar conditions. Moreover, this information could be useful for therapeutic purposes, including the proper administration of medication to control epilepsy.
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Deficiências do Desenvolvimento , Fala , Adolescente , Humanos , Masculino , Deficiências do Desenvolvimento/genética , Proteínas de Ligação a DNA/genética , Mutação , ConvulsõesRESUMO
AIM AND OBJECTIVE: Intellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode of inheritance of ID (X-linked intellectual disability; XLID) has a prevalence of 1 out of 600 to 1000 males. In the last decades, exome sequencing technology has revolutionized the process of disease-causing gene discovery in XLIDs. Nevertheless, so many of them still remain with unknown etiology. This study investigated four families with severe XLID to identify deleterious variants for possible diagnostics and prevention aims. METHODS: Nine male patients belonging to four pedigrees were included in this study. The patients were studied genetically for Fragile X syndrome, followed by whole exome sequencing and analysis of intellectual disability-related genes variants. Sanger sequencing, co-segregation analysis, structural modeling, and in silico analysis were done to verify the causative variants. In addition, we collected data from previous studies to compare and situate our work with existing knowledge. RESULTS: In three of four families, novel deleterious variants have been identified in three different genes, including ZDHHC9 (p. Leu189Pro), ATP2B3 (p. Asp847Glu), and GLRA2 (p. Arg350Cys) and also with new clinical features and in another one family, a reported pathogenic variant in the L1CAM (p. Glu309Lys) gene has been identified related to new clinical findings. CONCLUSION: The current study's findings expand the existing knowledge of variants of the genes implicated in XLID and broaden the spectrum of phenotypes associated with the related conditions. The data have implications for genetic diagnosis and counseling.
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Deficiência Intelectual , Humanos , Masculino , Deficiência Intelectual/genética , Deficiência Intelectual/diagnóstico , Sequenciamento do Exoma , Irã (Geográfico) , Mutação , Genes Ligados ao Cromossomo X , LinhagemRESUMO
Intellectual disability (ID) and autism spectrum disorders (ASDs) are the most common developmental disorders in humans. Combined, they affect between 3% and 5% of the population. Although high-throughput genomic methods are rapidly increasing the pool of ASD genes, many cases remain idiopathic. AGO1 is one of the less-known genes related to ID/ASD. This gene encodes a core member protein of the RNA-induced silencing complex, which suppresses mRNA expression through cleavage, degradation, and/or translational repression. Generally, patients with defects in the AGO1 gene manifest varying degrees of ID, speech delay, and autistic behaviors. Herein, we used whole-exome sequencing (WES) to investigate an Iranian family with two affected members one of whom manifested ID and autism and the other showed borderline ID and schizophrenia. WES analysis identified a novel heterozygous truncating variant (NM_012199.5:c.1298G > A, p.Trp433Ter) in the AGO1 gene that co-segregated with the phenotypes using Sanger sequencing. Moreover, the structural analysis showed that due to this variant, two critical domains (Mid and PIWI) of the AGO1 protein have been lost, which has a detrimental effect on the protein's function and structure. To the best of our knowledge, schizophrenia has not been reported in patients with AGO1 deficiency, which is a novel phenotypic finding that expands the AGO1-related behavioral disorders. Moreover, this study's findings determined that patients with the same variant in the AGO1 gene may show heterogeneity in manifested phenotypes.
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Flow-through heterogeneous electro-Fenton (FHEF) process shows a broad prospect for refractory organic pollutants removal. However, maintaining a long-term service life of higher catalytic cathode is crucial for the development of cathode materials, especially for iron-functionalized cathode operated under harsh conditions. In this study, a novel bimetallic CC@FeOCl-Cu composite was synthesized through one-step calcination, coupled with a series of microstructure characterization methodology, including XRD, SEM-EDS, XPS, and FTIR. The superior catalytic activity of CC@FeOCl-Cu could be ascribed to Fe-Cu synergy and better dispersion of FeOCl nanosheets. With the optimal Cu:Fe ratio of 1:60, the bifunctional ACF/CC@FeOCl-Cu cathode was employed in FHEF process, exhibiting an outstanding performance for sulfamethoxazole (SMX) removal over a wide pH range (3.0-9.0). Comparison of experimental results indicated that the ACF/CC@FeOCl-Cu-FHEF process showed higher performance than ACF/CC@FeOCl-FHEF and homogeneous EF processes. The average SMX removal efficiency was 98% and TOC removal efficiency was more than 57% even after 10 cycles. Radical quenching experiments and electron spin resonance test confirmed that â¢OH was the primary active species. More â¢OH was generated in the ACF/CC@FeOCl-Cu-FHEF process because the doping of Cu could enhance catalytic activity of cathode. In addition, the satisfactory performance could be observed in the ACF/CC@FeOCl-Cu-FHEF process for the treatment of real landfill leachate, indicating its potential for practical application in wastewater treatment.
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Sulfametoxazol , Poluentes Químicos da Água , Peróxido de Hidrogênio/química , Oxirredução , Eletrodos , Poluentes Químicos da Água/análise , Concentração de Íons de HidrogênioRESUMO
BACKGROUND: ZNF142 gene is a protein-coding gene encoding Zinc Finger Protein 142. ZNF proteins are a vast group of cellular effectors with a wide range of functions such as signal transduction, transcriptional regulation, meiotic recombination, DNA repair, development, and cell migration. Mutations in the ZNF142 gene are related to neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM). This study on a family with three affected siblings identified a pathogenic frameshift insertion variant. In addition, we conducted a review of the literature on previously reported ZNF142 gene variants and their clinical manifestations. MATERIALS AND METHODS: Three affected siblings with severe intellectual developmental disabilities and speech impairments, their parents, and other sibs in the family were included. The patients were studied by the whole exome sequencing. Sanger sequencing, co-segregation analysis, and in silico analysis were carried out to verify candidate variant. The identified variant was interpreted based on the ACMG guideline. RESULTS: We identified a frameshift insertion variant in the ZNF142 gene, NM_001379659.1: c.3755dup (NP_001366588.1:p.Arg1253ThrfsTer15), that was related to the clinical features of three patients. The identified variant was found to be pathogenic. CONCLUSION: The current study findings expand the existing knowledge of the variant on the ZNF142 gene implicated in the neurodevelopmental disorder, intellectual disability, and impaired speech and it presents a detailed clinical feature associated with related conditions. The data have implications for genetic diagnosis and counseling in families with the same disorders.
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Deficiência Intelectual , Criança , Humanos , Deficiências do Desenvolvimento/patologia , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Mutagênese Insercional , Irmãos , FalaRESUMO
A highly sensitive and flexible gas sensor that can detect a wide range of chemicals is crucial for wearable applications. However, conventional single resistance-based flexible sensors face challenges in maintaining chemical sensitivity under mechanical stress and can be affected by interfering gases. This study presents a versatile approach for fabricating a micropyramidal flexible ion gel sensor, which accomplishes sub-ppm sensitivity (<80 ppb) at room temperature and discrimination capability between various analytes, including toluene, isobutylene, ammonia, ethanol, and humidity. The discrimination accuracy of our flexible sensor is as high as 95.86%, enhanced by using machine learning-based algorithms. Moreover, its sensing capability remains stable with only a 2.09% change from the flat state to a 6.5 mm bending radius, further amplifying its universal usage for wearable chemical sensing. Therefore, we envision that a micropyramidal flexible ion gel sensor platform assisted by machine learning-based algorithms will provide a new strategy toward next-generation wearable sensing technology.
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The synthesis of multifunctional cathode with high-efficiency and stable catalytic activity for simultaneously producing and activating H2O2 is an effective way for promoting the performance of heterogeneous electro-Fenton process (HEF). In addition, accelerating mass transfer by adopting a flow-through reactor is also great importance because of its better utilization of catalysts and adequate contact of the contaminant with the oxidants generated on the electrode surface. Herein, a novel flow-through HEF (FHEF) system was designed for the degradation of trimethoprim (TMP) using bifunctional cathode with a sandwich structure FeOCl nanosheets loaded onto carbon cloth (CC) and activated carbon fiber (ACF) (FeOCl/CC/ACF). The cathode exhibited excellent performance in activating H2O2 for the in-situ generation of hydroxyl radicals (â¢OH). The electron spin resonance (ESR) measurements and radical quenching tests proved that the high production of â¢OH in the FHEF process was favorable to the high catalytic efficiency. 25 mg L-1 TMP was entirely degraded after 60 min, with the TOC removal of 62.6% (180 min) at pH 6.8, 9.0 mA cm-2, and flux rate 210 mL min-1. Moreover, the degradation rate still could reach 83% (60 min) after 10 cycles without obvious valence and crystal phase changes. Simultaneously, the current utilization rate has also been greatly enhanced, with an average current efficiency of 69.9% and a low energy consumption of 0.28 kWh kg-1. The reasonable degradation pathways for TMP were proposed based on the UPLC-QTOF-MS/MS results. Finally, the results of toxicological simulation showed a declining trend in the toxicity of the samples during TMP degradation. These results claim that the FeOCl/CC/ACF-FHEF system is an efficient and economical technology for the treatment of organic contaminants in effluents.
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Trimetoprima , Poluentes Químicos da Água , Carvão Vegetal , Poluentes Químicos da Água/análise , Peróxido de Hidrogênio/química , Fibra de Carbono , Espectrometria de Massas em Tandem , Oxirredução , Eletrodos , Concentração de Íons de HidrogênioRESUMO
Due to the lower cost and greater natural abundance of the sodium element on the earth than those of the lithium element, sodium-based ionic gel polymer electrolytes (IGPEs) are becoming a more cost-effective and popular material choice for portable and stationary energy solutions. The sodium-based IGPEs, however, appeared relatively inferior to their lithium-based counterparts for use in high-performance microsupercapacitors in terms of ionic conductivity and electrochemical stability. To tackle these issues, poly(ethylene glycol) diacrylate (PEGDA) with fast polymerization to build a polymer matrix and sodium perchlorate (NaClO4) with high chemical stability and high thermal stability are employed to generate free ions for an ionic conducting phase with the support of tetramethylene glycol ether (G4) and 1-ethyl-3-methylimidazolium bis(triflouromethylsulfonyl)imide (EMIM-TFSI). It was found that the ionic conductivity (σdc) of this sodium-based IGPE reaches up to 0.54 mS/cm at room temperature. To manifest a high-conductivity sodium-based IGPE (SIGPE), a microsupercapacitor (MSC) with an area of 5 mm2 is designed and fabricated on an interdigital reduced graphene oxide electrode. This MSC demonstrates prominent performance with a high power density of â¼2500 W/kg and a maximum energy density of â¼0.7 Wh/kg. Furthermore, after 20,000 cycles at an operating potential window from 0.0 to 1.0 V, it retains approximately 98.9% capacitance. An MSC array in 3 series × 3 parallels (3S × 3P) was successfully designed as a power source for a basic circuit with an LED. Therefore, we believe that our sodium-based IGPE microsupercapacitor holds its promising role as a solid-state energy source for high-performance and high-stability energy solutions.
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Biosensing systems based on controllable motion behaviors of droplets have attracted extensive attention, but still face challenges of insufficient sensitivity and uncontrollable dynamic range due to imprecise manipulation of droplet motion on the surfaces. Here, we report an orthogonal dual-regulation strategy for precise motion control of droplets and we demonstrate its utility as a sensitive sensing system with controllable dynamic ranges of sensing for adenosine triphosphate, miRNA, thrombin and kanamycin, as well as discrimination of five kinds of DNA. We endowed a DNA-contained bio-droplet sliding on a lubricant-infused structural surface with micro-grooves to separately adjust the resistance from liquid phase and solid phase. The resistance from liquid phase mainly depended on hydrophobic interaction between DNA and lubricant, which can be finely tuned by different DNA's average chain length. Meanwhile, the resistance from solid surface was determined by the energy barrier from the periodic micro-grooves, which can be adjusted by varying the droplet's sliding direction on the surface. The hydrophobic interaction is conformed to be orthogonal to the micro-grooves' anisotropic resistance by three different methods. This orthogonal dual-regulation strategy thus demonstrated its ability to precisely control bio-droplets' motion behaviors and sensitive detection with adjustable dynamic ranges for various bio-targets. The dual-regulation strategy will provide significant insights for super-wettable biosensors, visual inspection and beyond.
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Branch number is an important trait in grafted apple breeding and cultivation. To provide new information on molecular mechanisms of apple branching, whole reduced-representation genomes and transcriptome of a wild-type (WT) apple (Malus spectabilis) and its more-branching (MB) mutant at the branching stage were examined in this study. Comparison of WT and MB genomes against the Malus domestica reference genome identified 14,908,939 single nucleotide polymorphisms (SNPs) and 173,315 insertions and deletions (InDels) in WT and 1,483,221 SNPs and 1,725,977 InDels in MB. Analysis of the genetic variation between MB and WT revealed 1,048,575 SNPs and 37,327 InDels. Among them, 24,303 SNPs and 891 InDels mapped to coding regions of 5,072 and 596 genes, respectively. GO and KEGG functional annotation of 3,846 and 944 genes, respectively, identified 32 variant genes related to plant hormone signal transduction that were involved in auxin, cytokinin, gibberellin, abscisic acid, ethylene, and brassinosteroid pathways. The transcriptome pathways of plant hormone signal transduction and zeatin biosynthesis were also significantly enriched during MB branching. Furthermore, transcriptome data suggested the regulatory roles of auxin signaling, increase of cytokinin and genes of cytokinin synthesis and signaling, and the suppressed abscisic acid signaling. Our findings suggest that branching development in apple is regulated by plant hormone signal transduction.
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Genoma de Planta , Malus/genética , Mutação/genética , Reguladores de Crescimento de Plantas/metabolismo , Brotos de Planta/crescimento & desenvolvimento , Transdução de Sinais , Transcriptoma/genética , Sequenciamento Completo do Genoma , Cromossomos de Plantas/genética , DNA de Plantas/genética , Perfilação da Expressão Gênica , Regulação da Expressão Gênica de Plantas , Variação Genética , Mutação INDEL/genética , Modelos Biológicos , Anotação de Sequência Molecular , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , RNA-SeqRESUMO
Through-space charge-transfer (TSCT) emitters have been extensively explored for thermally activated delayed fluorescence (TADF), but arranging various donors and acceptors into rigid cofacial conformations for various efficient TSCT TADF emitters has remained challenging. Here, we report a "fixing acceptor" design to reach various efficient TSCT TADF emitters. By chemically fixing the acceptor (benzophenone) with a rigid spiro-structure and cofacially aligning various donors with the fixed acceptor, a series of efficient TSCT TADF emitters have been developed. Single-crystal structures and theoretical calculations have verified closely packed cofacial donor/acceptor conformations and favorable TSCT in the emitters. In doped films, the emitters afford sky blue to yellow TADF emission, with high photoluminescence efficiencies up to 0.92 and reverse intersystem crossing rates up to 1.0 × 106 s-1. Organic light-emitting diodes using the emitters afford sky blue to yellow electroluminescence with high external quantum efficiencies up to 20.9%. The work opens a new avenue toward a wide variety of efficient TSCT TADF emitters.
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The development of blue emissive cationic Ir(III) complexes with no fluorine substitutions but with sufficient blue color purity and high phosphorescence efficiency has remained challenging. Here, fluorine-free cyan to deep blue emissive cationic Ir(III) complexes with phenylimidazole-type cyclometalated ligands (Câ§N) are reported, which are [Ir(dphim)2(dmapzpy)]PF6 (1), [Ir(ipr-dphim)2(dmapzpy)]PF6 (2), [Ir(ipr-dphim)2(bipz)]PF6 (3), and [Ir(ipr-dphim)2(bicb)]PF6 (4). 1,2-Diphenyl-1H-imidazole (dphim) and 1-(2,6-diisopropylphenyl)-2-phenyl-1H-imidazole (ipr-dphim) are the phenylimidazole-type Câ§N ligands, and 4-dimethylamino-2-(1H-pyrazol-1-yl)pyridine (dmapzpy), di(1H-pyrazol-1-yl)methane (bipz), and 3,3'-methylenebis(1-methyl-1H-imidazol-3-ium-2-ide) (bicb) are the neutral ancillary ligands (Aâ§A). In both solution and diluted films, complex 1 shows a cyan emission with the emission maxima at â¼472 and 495 nm, and complexes 2-4 provide a deep blue emission with the emission maxima at â¼460 and 480 nm. While the complexes exhibit low to moderate phosphorescence efficiencies (0.05-0.35) in a degassed CH3CN solution, they exhibit high phosphorescence efficiencies (up to 0.82) in diluted films. Theoretical calculations revealed that the mixed 3π-π* (Câ§N-centered)/3MLCT (Ir â Câ§N) states are responsible for the emission afforded by complexes 1-4, which undergo nonradiative deactivations induced by different types of metal-centered states. Organic light-emitting diodes with complexes 1-4 as phosphorescent dopants are fabricated by a solution process, which affords a blue-green to blue emission with the emission maxima at â¼460 and 490 nm for the blue devices and a high current efficiency at 28.1 cd A-1 for the blue-green device. Solid-state light-emitting electrochemical cells are also fabricated with complexes 1-2 as phosphorescent dopants, which provide green-blue to blue emission with a high luminance (up to 840 cd m-2) and current-efficiency (up to 16.8 cd A-1) under a constant-current driving. The work reveals that, by using phenylimidazole-type Câ§N ligands and optimized Aâ§A ligands, blue emissive cationic Ir(III) complexes with no fluorine substitutions but with sufficient blue-color purity and a high phosphorescence efficiency can be developed.
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The aim of this study was to reveal the macroscopic and mesoscopic deterioration behaviors of concrete under the coupling effect of chlorine salt erosion and the freezing-thawing cycle. The rapid freezing-thawing test was carried out in a 5% chlorine salt environment. The macroscopic characteristics of concrete were analyzed by testing the mass, the relative dynamic modulus of elasticity, and the compressive strength of concrete under different freezing-thawing cycles. Using CT scanning technology and three-dimensional reconstruction technology, the pore structure, CT value, and surface deviation of concrete before and after freezing-thawing were analyzed. Based on the changes of solid volume, pore volume, and solid CT value of concrete, the calculation method of relative CT value was proposed, and the damage model was established with relative CT value as the damage variable. The results demonstrate that the mass loss rate decreases in the beginning and then increases in the process of chlorine salt erosion and freezing-thawing, and the smaller the concrete size, the greater the mass loss rate. The relative dynamic modulus of elasticity decreases gradually, slowly at the initial stage and then at a faster rate, and the compressive strength loss rate increases gradually. The pore quantity, porosity, and volume loss rate of concrete increase in a fluctuating manner, whereas the relative CT value decreases. The comprehensive analysis shows that the chlorine salt frost resistance of concrete is negatively related to the water-cement ratio when the freezing-thawing cycle is fixed. The damage model could better reflect the freezing-thawing damage degree of concrete with different water cement ratios, and the damage evolution process is well described by the Weibull function.