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https://www.readbyqxmd.com/read/29665094/newborn-screening-a-disease-changing-intervention-for-glutaric-aciduria-type-1
#1
Nikolas Boy, Katharina Mengler, Eva Thimm, Katharina A Schiergens, Thorsten Marquardt, Natalie Weinhold, Iris Marquardt, Anibh M Das, Peter Freisinger, Sarah C Grünert, Judith Vossbeck, Robert Steinfeld, Matthias R Baumgartner, Skadi Beblo, Andrea Dieckmann, Andrea Näke, Martin Lindner, Jana Heringer, Georg F Hoffmann, Chris Mühlhausen, Esther M Maier, Regina Ensenauer, Sven F Garbade, Stefan Kölker
OBJECTIVE: Untreated individuals with glutaric aciduria type 1 (GA1) commonly present with a complex, predominantly dystonic movement disorder (MD) following acute or insidious onset striatal damage. Implementation of GA1 into newborn screening (NBS) programmes has improved the short-term outcome. It remains unclear, however, whether NBS changes the long-term outcome and which variables are predictive. METHODS: This prospective, observational, multi-centre study includes 87 patients identified by NBS, four patients missed by NBS and three women with GA1 identified by positive NBS results of their unaffected children...
April 17, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29663094/interband-photoconductivity-of-metamorphic-inas-ingaas-quantum-dots-in-the-1-3-1-55-%C3%AE-m-window
#2
Sergii Golovynskyi, Oleksandr I Datsenko, Luca Seravalli, Giovanna Trevisi, Paola Frigeri, Ivan S Babichuk, Iuliia Golovynska, Junle Qu
Photoelectric properties of the metamorphic InAs/In x Ga1 - x As quantum dot (QD) nanostructures were studied at room temperature, employing photoconductivity (PC) and photoluminescence spectroscopies, electrical measurements, and theoretical modeling. Four samples with different stoichiometry of In x Ga1 - x As cladding layer have been grown: indium content x was 0.15, 0.24, 0.28, and 0.31. InAs/In0.15 Ga0.85 As QD structure was found to be photosensitive in the telecom range at 1.3 μm. As x increases, a redshift was observed for all the samples, the structure with x = 0...
April 16, 2018: Nanoscale Research Letters
https://www.readbyqxmd.com/read/29619367/effects-of-cr-substitution-on-negative-thermal-expansion-and-magnetic-properties-of-antiperovskite-ga-1-x-cr-x-n-0-83-mn-3-compounds
#3
Xinge Guo, Peng Tong, Jianchao Lin, Cheng Yang, Kui Zhang, Shuai Lin, Wenhai Song, Yuping Sun
Negative thermal expansion (NTE) and magnetic properties were investigated for antiperovskite Ga1- x Cr x N0.83 Mn3 compounds. As x increases, the temperature span (Δ T ) of NTE related with Γ5g antiferromagnetic (AFM) order is expanded and shifted to lower temperatures. At x = 0.1, NTE happens between 256 and 318 K (Δ T = 62 K) with an average linear coefficient of thermal expansion, α L = -46 ppm/K. The Δ T is expanded to 81 K (151-232 K) in x = 0.2 with α L = -22.6 ppm/K. Finally, NTE is no longer visible for x ≥ 0...
2018: Frontiers in Chemistry
https://www.readbyqxmd.com/read/29556245/salinity-inhibits-rice-seed-germination-by-reducing-%C3%AE-amylase-activity-via-decreased-bioactive-gibberellin-content
#4
Li Liu, Weili Xia, Haixia Li, Hanlai Zeng, Benhui Wei, Suoyi Han, Changxi Yin
Seed germination plays important roles in the establishment of seedlings and their subsequent growth; however, seed germination is inhibited by salinity, and the inhibitory mechanism remains elusive. Our results indicate that NaCl treatment inhibits rice seed germination by decreasing the contents of bioactive gibberellins (GAs), such as GA1 and GA4, and that this inhibition can be rescued by exogenous bioactive GA application. To explore the mechanism of bioactive GA deficiency, the effect of NaCl on GA metabolic gene expression was investigated, revealing that expression of both GA biosynthetic genes and GA-inactivated genes was up-regulated by NaCl treatment...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29550969/identification-of-the-dwarf-gene-gmdw1-in-soybean-glycine-max-l-by-combining-mapping-by-sequencing-and-linkage-analysis
#5
Zhong-Feng Li, Yong Guo, Lin Ou, Huilong Hong, Jun Wang, Zhang-Xiong Liu, Bingfu Guo, Lijuan Zhang, Lijuan Qiu
GmDW1 encodes an ent-kaurene synthase (KS) acting at the early step of the biosynthesis pathway for gibberellins (GAs) and regulates the development of plant height in soybean. Plant height is an important component of plant architecture, and significantly affects crop breeding practices and yield. Here, we report the characterization of an EMS-induced dwarf mutant (dw) of the soybean cultivar Zhongpin 661 (ZDD23893). The dw mutant displayed reduced plant height and shortened internodes, both of which were mainly attributed to the longitudinally decreased cell length...
March 17, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29545269/rht18-semi-dwarfism-in-wheat-is-due-to-increased-expression-of-ga-2-oxidasea9-and-lower-ga-content
#6
Brett Ford, Eloise Foo, Robert E Sharwood, Miroslava Karafiatova, Jan Vrána, Colleen MacMillan, David S Nichols, Burkhard Steuernagel, Cristobal Uauy, Jaroslav Doležel, Peter Chandler, Wolfgang Spielmeyer
Semi-dwarfing genes have contributed to major yield increases in crop species by reducing height, improving lodging resistance, and partitioning more assimilates to grain growth. In wheat, the Rht18 semi-dwarfing gene was identified and deployed in durum wheat before it was transferred into bread wheat where it was shown to have agronomic potential. Rht18, a dominant and gibberellin (GA) responsive mutant, is genetically and functionally distinct from the widely used GA insensitive semi-dwarfing genes Rht-B1b and Rht-D1b...
March 15, 2018: Plant Physiology
https://www.readbyqxmd.com/read/29480290/collective-thermal-transport-in-pure-and-alloy-semiconductors
#7
Pol Torres, Amr Mohammed, Àlvar Torelló, Javier Bafaluy, Juan Camacho, Xavier Cartoixà, Ali Shakouri, F Xavier Alvarez
Conventional models for predicting thermal conductivity of alloys usually assume a pure kinetic regime as alloy scattering dominates normal processes. However, some discrepancies between these models and experiments at very small alloy concentrations have been reported. In this work, we use the full first principles kinetic collective model (KCM) to calculate the thermal conductivity of Si1-x Gex and Inx Ga1-x As alloys. The calculated thermal conductivities match well with the experimental data for all alloy concentrations...
February 26, 2018: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/29441084/auxin-to-gibberellin-ratio-as-a-signal-for-light-intensity-and-quality-in-regulating-soybean-growth-and-matter-partitioning
#8
Feng Yang, Yuanfang Fan, Xiaoling Wu, Yajiao Cheng, Qinlin Liu, Lingyang Feng, Junxu Chen, Zhonglin Wang, Xiaochun Wang, Taiwen Yong, Weiguo Liu, Jiang Liu, Junbo Du, Kai Shu, Wenyu Yang
The intensity and quality (red to far-red (R/Fr) ratio) of light directly affect growth of plant under shading. Gibberellins (GAs) and auxin [indole-3-acetic acid (IAA)] play important roles in mediating the shading adaptive responses of plants. Thus, the intensity and quality of the uncoupling light from shading were assessed to identify the influence of each component on the morphology and matter distribution of the leaf, stem, and petiole. This assessment was based on the changes in endogenous Gibberellin 1 (GA1) and IAA levels...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29431572/mlk1-and-mlk2-integrate-gibberellins-and-circadian-clock-signaling-to-modulate-plant-growth
#9
Han Zheng, Yong Ding
The covalent histone modifications were associated with plant development. However, the function of histone modification factors involved in gibberellins (GAs) signaling pathway remains unclear. In recent study, we reported that histone modification factors MUT9p-LIKE KINASE1 (MLK1) and MLK2 coordinate GA and circadian clock signaling in hypocotyl elongation. MLK1 and MLK2 interact with the DELLA protein REPRESSOR OF ga1-3 (RGA), and antagonize the function of RGA to interact with CIRCADIAN CLOCK ASSOCIATED1 (CCA1), resulting in promoting hypocotyl elongation...
February 12, 2018: Plant Signaling & Behavior
https://www.readbyqxmd.com/read/29427049/favourable-outcome-in-a-child-with-symptomatic-diagnosis-of-glutaric-aciduria-type-1-despite-vertical-hiv-infection-and-minor-head-trauma
#10
Angeline Thomas, Els F M Dobbels, Priscilla E Springer, Christelle Ackermann, Mark F Cotton, Barbara Laughton
The first case of Glutaric aciduria Type 1(GA1) in an African child was reported in 2001. GA1 has a prevalence of 1:5000 in black South Africans. Although early diagnosis is essential for a favourable outcome, newborn screening is not routine in South Africa where an estimated 320,000 children have HIV infection. Neurodevelopmental delay and encephalopathy are complications of both HIV and GA1. In such a setting it is important to recognise that HIV and GA1 can occur simultaneously. We present an HIV-infected South African male child of Xhosa descent with macrocephaly who commenced combination antiretroviral therapy (ART) at 8 weeks of age in a clinical trial which included a neurodevelopmental sub-study...
February 9, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29423231/histological-hormonal-and-transcriptomic-reveal-the-changes-upon-gibberellin-induced-parthenocarpy-in-pear-fruit
#11
Lulu Liu, Zhigang Wang, Jianlong Liu, Fengxia Liu, Rui Zhai, Chunqin Zhu, Huibin Wang, Fengwang Ma, Lingfei Xu
Phytohormones play crucial roles in fruit set regulation and development. Here, gibberellins (GA4+7), but not GA3, induced pear parthenocarpy. To systematically investigate the changes upon GA4+7 induced pear parthenocarpy, dynamic changes in histology, hormone and transcript levels were observed and identified in unpollinated, pollinated and GA4+7-treated ovaries. Mesocarp cells continued developing in both GA4+7-treated and pollinated ovaries. In unpollinated ovaries, mesocarp cells stopped developing 14 days after anthesis...
2018: Horticulture Research
https://www.readbyqxmd.com/read/29385616/distinct-functions-for-gibberellin-during-and-after-grapevine-bud-dormancy-release
#12
Chuanlin Zheng, Atiako Kwame Acheampong, Zhaowan Shi, Tamar Halaly, Yuji Kamiya, Ron Ophir, David W Galbraith, Etti Or
The molecular mechanism regulating dormancy release in grapevine buds is as yet unclear. It has been proposed that (1) Abscisic acid (ABA) represses bud-meristem activity; (2) Perturbation of respiration induces an interplay between ethylene and ABA metabolism, which leads to repression removal; (3) Gibberellin (GA)-mediated growth is resumed. The first two propositions have been formally supported. The current study examines the third proposition regarding the potential involvement of GA in dormancy release...
January 27, 2018: Journal of Experimental Botany
https://www.readbyqxmd.com/read/29380618/reasons-of-repeat-dental-treatment-under-general-anaesthesia-a-retrospective-study
#13
J Guidry, S Bagher, O Felemban, A Rich, C Loo
AIM: The purpose of this chart review study was to investigate the common factors that exist in paediatric patients requiring a repeat dental treatment under general anaesthesia (GA2) within four years after the initial dental treatment under general anaesthesia (GA1). MATERIALS AND METHODS: The Electronic Health Records of one to 12 year-old children who received dental treatment under general anaesthesia (GA) between April 2004 and October 2009 were identified and analysed by a single examiner...
December 2017: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/29373072/cytokinins-and-the-cre1-receptor-influence-endogenous-gibberellin-levels-in-medicago-truncatula
#14
Camille Fonouni-Farde, Erin McAdam, David Nichols, Anouck Diet, Eloise Foo, Florian Frugier
Gibberellins (GAs) and cytokinins (CKs) are hormones that play antagonistic roles in several developmental processes in plants. However, there has been little exploration of their reciprocal interactions. Recent work in Medicago truncatula has revealed that GA signalling can regulate CK levels and response in roots. Here, we examine the reciprocal interaction, by assessing how CKs and the CRE1 (Cytokinin Response 1) CK receptor may influence endogenous GA levels. Real-Time RT-PCR analyses revealed that the expression of key GA biosynthesis genes is regulated in response to a short-term CK treatment and requires the CRE1 receptor...
January 26, 2018: Plant Signaling & Behavior
https://www.readbyqxmd.com/read/29362103/arabidopsis-galactinol-synthases-1-atgols1-negatively-regulates-seed-germination
#15
Ji-Hye Jang, Yun Shang, Hyun Kyung Kang, Sun Young Kim, Beg Hab Kim, Kyoung Hee Nam
Seed germination begins the growth phases of plants and its rate is affected not only by plant hormones, including abscisic acid (ABA), gibberellin (GA) and brassinosteroids (BRs), but also by environmental factors. In this study, we searched for additional chemical reagents that affect seed germination, using the det2-1 and ga1-3 mutants that showed reduced seed germination due to defective BR- or GA- biosynthesis, respectively. We found that the reducing reagent dithiothreitol (DTT) specifically enhanced seed germination of det2-1 compared with that of ga1-3...
February 2018: Plant Science: An International Journal of Experimental Plant Biology
https://www.readbyqxmd.com/read/29350742/direct-observation-of-the-topological-spin-configurations-mediated-by-the-substitution-of-rare-earth-element-y-in-mnniga-alloy
#16
S L Zuo, Y Zhang, L C Peng, X Zhao, R Li, H Li, J F Xiong, M He, T Y Zhao, J R Sun, F X Hu, B G Shen
The evolution of topological magnetic domains microscopically correlates the dynamic behavior of memory units in spintronic application. Nanometric bubbles with variation of spin configurations have been directly observed in a centrosymmetric hexagonal magnet (Mn0.5 Ni0.5 )65 (Ga1-y Yy )35 (y = 0.01) using Lorentz transmission electron microscopy. Magnetic bubbles instead of biskyrmions are generated due to the enhancement of quality factor Q caused by the substitution of rare-earth element Y. Furthermore, the bubble density and diversified spin configurations are systematically manipulated via combining the electric current with perpendicular magnetic fields...
February 1, 2018: Nanoscale
https://www.readbyqxmd.com/read/29338216/effect-of-thermochemical-synthetic-conditions-on-the-structure-and-dielectric-properties-of-ga-1-9-fe-0-1-o-3-compounds
#17
Swadipta Roy, C V Ramana
We report on the tunable and controlled dielectric properties of iron (Fe)-doped gallium oxide (Ga2 O3 ; Ga1.9 Fe0.1 O3 , referred to as GFO) inorganic compounds. The GFO materials were synthesized using a standard high-temperature, solid-state chemical reaction method by varying the thermochemical processing conditions, namely, different calcination and sintering environments. Structural characterization by X-ray diffraction revealed that GFO compounds crystallize in the β-Ga2 O3 phase. The Fe doping has induced slight lattice strain in GFO, which is evident in structural analysis...
February 5, 2018: Inorganic Chemistry
https://www.readbyqxmd.com/read/29301510/exogenous-short-term-silicon-application-regulates-macro-nutrients-endogenous-phytohormones-and-protein-expression-in-oryza-sativa-l
#18
Soo-Won Jang, Yoonha Kim, Abdul Latif Khan, Chae-In Na, In-Jung Lee
BACKGROUND: Silicon (Si) has been known to regulate plant growth; however, the underlying mechanisms of short-term exogenous Si application on the regulation of calcium (Ca) and nitrogen (N), endogenous phytohormones, and expression of essential proteins have been little understood. RESULTS: Exogenous Si application significantly increased Si content as compared to the control. Among Si treatments, 1.0 mM Si application showed increased phosphorus content as compared to other Si treatments (0...
January 4, 2018: BMC Plant Biology
https://www.readbyqxmd.com/read/29201125/glutaric-aciduriatype-1-clinical-and-molecular-study-in-iranian-patients-3-novel-mutations
#19
Zahra Pirzadeh, Massoud Houshmand, Jafar Nasiri, Mohsen Mollamohammadi, Mostafa Sedighi, Seyed Hassan Tonekaboni
Objective: Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to glutaryl- CoA dehydrogenase (GCDH) gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis. Materials & Methods: In this cross-sectional study, clinical manifestation, neuroimaging and metabolic findings of eleven Iranian GA1 patients of MofidChildren's Hospital, Tehran, Iranbetween 2001 and 2011,were evaluated...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29170674/a-pectin-methylesterase-zmpme3-is-expressed-in-gametophyte-factor1-s-ga1-s-silks-and-maps-to-that-locus-in-maize-zea-mays-l
#20
Adrienne N Moran Lauter, Michael G Muszynski, Ryan D Huffman, M Paul Scott
The ga1 locus of maize confers unilateral cross incompatibility, preventing cross pollination between females carrying the incompatible Ga1-s allele and males not carrying a corresponding compatible allele. To characterize this system at the molecular level, we carried out a transcript profiling experiment in which silks from near isogenic lines carrying the Ga1-s and ga1 alleles were compared. While several differentially expressed genes were identified, only one mapped to the known location of ga1 . This gene is a pectin methylesterase (PME), which we designated as ZmPme3 , and is present and expressed only in Ga1 - s genotypes...
2017: Frontiers in Plant Science
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