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https://www.readbyqxmd.com/read/28209627/characterization-of-a-blood-spot-creatine-kinase-skeletal-muscle-isoform-immunoassay-for-high-throughput-newborn-screening-of-duchenne-muscular-dystrophy
#1
Stuart J Moat, Teemu Korpimäki, Petra Furu, Harri Hakala, Hanna Polari, Liisa Meriö, Pauliina Mäkinen, Ian Weeks
BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attributable to 3 isoenzyme forms of CK (CK-MM, CK-MB, and CK-BB) and it is the CK-MM isoform that is found predominantly in skeletal muscle. CK-MM is increased in boys with DMD owing to muscle damage...
February 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28208298/surface-accessibility-and-dynamics-of-macromolecular-assemblies-probed-by-covalent-labeling-mass-spectrometry-and-integrative-modeling
#2
Carla Schmidt, Jamie A Macpherson, Andy M Lau, Ken Wei Tan, Franca Fraternali, Argyris Politis
Mass spectrometry (MS) has become an indispensable tool for investigating the architectures and dynamics of macromolecular assemblies. Here we show that covalent labeling of solvent accessible residues followed by their MS-based identification yields modeling restraints that allow mapping the location and orientation of subunits within protein assemblies. Together with complementary restraints derived from cross-linking and native MS, we built native-like models of four heterocomplexes with known subunit structures and compared them with available X-ray crystal structures...
February 7, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28205585/neuronally-directed-effects-of-rxr-activation-in-a-mouse-model-of-alzheimer-s-disease
#3
M M Mariani, T Malm, R Lamb, T R Jay, L Neilson, B Casali, L Medarametla, G E Landreth
Alzheimer's disease (AD) is characterized by extensive neuron loss that accompanies profound impairments in memory and cognition. We examined the neuronally directed effects of the retinoid X receptor agonist bexarotene in an aggressive model of AD. We report that a two week treatment of 3.5 month old 5XFAD mice with bexarotene resulted in the clearance of intraneuronal amyloid deposits. Importantly, neuronal loss was attenuated by 44% in the subiculum in mice 4 months of age and 18% in layer V of the cortex in mice 8 months of age...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28195489/composition-and-stability-of-plasma-polymer-films-exhibiting-vertical-chemical-gradients
#4
Patrick Rupper, Marianne Vandenbossche, Laetitia Bernard, Dirk Hegemann, Manfred P Heuberger
Controlling the balance between stability and functional group density in grown plasma polymer films is the key to diverse applications such as drug release, tissue-engineered implants, filtration, contact lenses, microfluidics, electrodes, sensors, etc. Highly functional plasma polymer films typically show a limited stability in air or aqueous environments due to mechanisms like molecular reorganization, oxidation and hydrolysis. Stabilization is achieved by enhancing cross-linking at the cost of the terminal functional groups such as -OH and -COOH, but also -NH2 etc...
February 14, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28192137/a-strategic-approach-for-direct-recovery-and-stabilization-of-fusarium-sp-ict-sac1-cutinase-from-solid-state-fermented-broth-by-carrier-free-cross-linked-enzyme-aggregates
#5
Sandeep A Chaudhari, Rekha S Singhal
The major hurdles in commercial exploitation of cutinase (having both esterolutic and lipolytic activities) with potent industrial applications are its high production cost, operational instability and reusability. Although commercially available in immobilized form, its immobilization process (synthesis of support/carrier) makes it expensive. Herein we tried to address multiple issues of production cost, stability, and reusability, associated with cutinase. Waste watermelon rinds, an agroindustrial waste was considered as a cheap support for solid state fermentation (SSF) for cutinase production by newly isolated Fusarium sp...
February 9, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28186723/bioresponsive-dna-hydrogels-beyond-the-conventional-stimuli-responsiveness
#6
Dong Wang, Yue Hu, Peifeng Liu, Dan Luo
Bioresponsive hydrogels can respond to various biological stimuli by a macroscopic change of physical state or by converting biochemical inputs into biological or mechanical outputs. These materials are playing an increasingly important role in a wide variety of applications, especially in the biological and biomedical fields. However, the design and engineering of intriguing bioresponsive materials with adequate biocompatibility and biodegradability have proven to be a great challenge. DNA, on the other hand, possesses many unique and fascinating properties, including its indispensable genetic function, broad biocompatibility, precise molecular recognition capability, tunable multifunctionality, and convenient programmability...
February 10, 2017: Accounts of Chemical Research
https://www.readbyqxmd.com/read/28179396/the-antigenic-structure-of-zika-virus-and-its-relation-to-other-flaviviruses-implications-for-infection-and-immunoprophylaxis
#7
REVIEW
Franz X Heinz, Karin Stiasny
Zika virus was discovered ∼70 years ago in Uganda and maintained a low profile as a human disease agent in Africa and Asia. Only recently has it caused explosive outbreaks in previously unaffected regions, first in Oceania and then in the Americas since 2015. Of special concern is the newly identified link between congenital malformations (especially microcephaly) and Zika virus infections during pregnancy. At present, it is unclear whether Zika virus changed its pathogenicity or whether the huge number of infections allowed the recognition of a previously cryptic pathogenic property...
March 2017: Microbiology and Molecular Biology Reviews: MMBR
https://www.readbyqxmd.com/read/28177048/use-of-fluorescent-oligonucleotide-probes-for-differentiation-between-paracoccidioides-brasiliensis-and-paracoccidioides-lutzii-in-yeast-and-mycelial-phase
#8
Thales Domingos Arantes, Raquel Cordeiro Theodoro, Marcus de Melo Teixeira, Eduardo Bagagli
BACKGROUND: Fluorescence in situ hybridisation (FISH) associated with Tyramide Signal Amplification (TSA) using oligonucleotides labeled with non-radioactive fluorophores is a promising technique for detection and differentiation of fungal species in environmental or clinical samples, being suitable for microorganisms which are difficult or even impossible to culture. OBJECTIVE: In this study, we aimed to standardise an in situ hybridisation technique for the differentiation between the pathogenic species Paracoccidioides brasiliensis and Paracoccidioides lutzii, by using species-specific DNA probes targeting the internal transcribed spacer-1 (ITS-1) of the rRNA gene...
February 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28174086/chitosan-coated-tungsten-trioxide-nanoparticles-as-a-contrast-agent-for-x-ray-computed-tomography
#9
Mehdi Firouzi, Reza Poursalehi, H Delavari, Fakhredin Saba, Mohammad A Oghabian
Recent advances have shown that inorganic nanoparticles (NPs) based on heavy elements are highly appropriate for X-ray computed tomography (CT). In this contribution, tungsten trioxide NPs are prepared by the electrical arc discharge (EAD) method in DI water. The effect of chitosan (CTS) and glutaraldehyde (GTA) as coating and cross-linking agent, respectively, on the hydrodynamic size and zeta potential of prepared tungsten trioxide NPs is investigated. It is found that zeta potential increases by increasing the amounts of CTS...
February 5, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28170226/significance-of-individual-residues-at-the-regulatory-site-of-yeast-pyruvate-decarboxylase-for-allosteric-substrate-activation
#10
Michael Spinka, Sebastian Seiferheld, Philipp Zimmermann, Elena Bergner, Anne-Kathrin Blume, Angelika Schierhorn, Tom Reichenbach, Robert Pertermann, Christiane Ehrt, Stephan König
The catalytic activity of the allosteric enzyme pyruvate decarboxylase from yeast is strictly controlled by its own substrate pyruvate via covalent binding at a separate regulatory site. Kinetic studies, chemical modifications, cross-linking, small-angle X-ray scattering, and crystal structure analyses have led to a detailed understanding of the substrate activation mechanism at atomic level with C221 as the core moiety of the regulatory site. To characterize the individual role of the residues adjacent to C221, we generated the variants H92F, H225F, H310F, A287G, S311A, and C221A/C222A...
February 7, 2017: Biochemistry
https://www.readbyqxmd.com/read/28166607/recombinant-fibrinogen-reveals-the-differential-roles-of-%C3%AE-and-%C3%AE-chain-cross-linking-and-molecular-heterogeneity-in-fibrin-clot-strain-stiffening
#11
I K Piechocka, N A Kurniawan, J Grimbergen, J Koopman, G H Koenderink
BACKGROUND: Fibrin plays a crucial role in haemostasis and wound healing by forming strain-stiffening fibrous networks that reinforce blood clots. The molecular origin of fibrin's strain-stiffening behavior remains poorly understood, primarily because plasma fibrinogen is a complex mixture of heterogeneous molecular variants and is often contaminated by plasma factors that affect clot properties. OBJECTIVES AND METHODS: To facilitate mechanistic dissection of fibrin nonlinear elasticity, we produced a homogeneous recombinant fibrinogen corresponding to the main variant in human plasma, termed rFib610...
February 6, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28160644/novel-cross-linked-melamine-based-polyamine-cnt-composites-for-lead-ions-removal
#12
Othman Charles S Al Hamouz, Isaiah Olabisi Adelabu, Tawfik A Saleh
A novel series of polyamine/CNT composites were synthesized via a single step polycondensation reaction of melamine, paraformaldehyde, various alkyldiamines and chlorinated carbon nanotubes (CNT) at optimized reaction conditions in the presence of N, N-Dimethyl formamide as a solvent. Chlorinated carbon nanotubes synthesized by reacting acidified CNT and thionyl chloride was used. The pure polymer (MFDH) and the functionalized composites (MFDH1, MFDH2, MFDH3 and MFDH4) having 0.01, 0.02, 0.05 and 0.1% weight of the starting precursors were used...
February 1, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/28159751/x-chromosome-control-of-genome-scale-recombination-rates-in-house-mice
#13
Beth L Dumont
Sex differences in recombination are widespread in mammals, but the causes of this pattern are poorly understood. Previously, males from two interfertile subspecies of house mice, Mus musculus musculus and M. m. castaneus, were shown to exhibit a ~30% difference in their global crossover frequencies. Much of this crossover rate divergence is explained by six autosomal loci and a large-effect locus on the X chromosome. Intriguingly, the allelic effects at this X-linked locus are transgressive, with the allele conferring increased crossover rate transmitted by the low crossover rate M...
February 3, 2017: Genetics
https://www.readbyqxmd.com/read/28154959/differential-sexual-survival-of-drosophila-melanogaster-on-copper-sulfate
#14
Michael A Balinski, Ronny C Woodruff
Based on studies of the influence of X-chromosomes on the viability of Drosophila melanogaster exposed to cadmium, and on the role of X-linked genes on copper homeostasis, we examined the effect of copper sulfate (CuSO4) on offspring viability using three independent, inbred D. melanogaster crosses (ensuring identical autosomes for males and females within each cross). Each cross was performed with attached X-chromosome females and males with a single X-chromosome. As female D. melanogaster have less metallothionein RNA expression than males, we predicted fewer female offspring than male offspring in crosses exposed to CuSO4, even though females have two copies of X-chromosome genes, possibly resulting in overdominant heterozygosity...
February 2, 2017: Genetica
https://www.readbyqxmd.com/read/28147405/prominent-optic-disc-featured-in-inherited-retinopathy
#15
M G Todorova, R I Bojinova, C Valmaggia, D F Schorderet
Background We investigated the relationship between prominent optic disc (POD) and inherited retinal dystrophy (IRD). Patients and Methods A cross-sectional consecutive study was performed in 10 children and 11 adults of 7 non-related families. We performed clinical phenotyping, including a detailed examination, fundus autofluorescence, and colour fundus and OCT imaging. Genetic testing was subsequently performed for all family members presenting retinal pathology. Results In 4 members of a 3-generation family, hyperfluorescent deposits on the surface of POD were related to a p...
February 1, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28145146/chromium-vi-ion-adsorption-by-grafted-cross-linked-chitosan-beads-in-aqueous-solution-a-mathematical-and-statistical-modelling-study
#16
E Igberase, P Osifo, A Ofomaja
Chitosan outstanding qualities and efficient way of binding metal ions even to near zero concentration is the major reason for special attention. Modification of chitosan allows the polymer to be applied in numerous field of research. Depending on the modification technique, chitosan possesses increased adsorption capacity. In this study chitosan beads was formulated from chitosan flakes, the beads were cross-linked with glutaraldehyde and thereafter grafted with ethyl diamine tetra acetic acid (EDTA). The stability and amine concentration of the beads were determined...
February 1, 2017: Environmental Technology
https://www.readbyqxmd.com/read/28123435/transforming-growth-factor-%C3%AE-1-tgf-%C3%AE-1-in-the-sera-of-postmenopausal-osteoporotic-females
#17
Aazam Faraji, Shabnam Abtahi, Abbas Ghaderi, Alamtaj Samsami Dehaghani
BACKGROUND: Postmenopausal osteoporosis is a major cause of morbidity in postmenopausal females. Transforming growth factor β1 (TGF-β1) and interleukin 18 (IL-18) play complex roles in normal bone metabolism, and in pathophysiology of postmenopausal osteoporosis. OBJECTIVES: The aim of this study was to design an analytic cross sectional study in order to further clarify the role of TGF-β1 and IL-18 in osteoporosis of postmenopausal females. METHODS: A cross sectional study including 65 postmenopausal osteoporotic females as cases and 69 postmenopausal females of similar age without osteoporosis as controls was conducted...
October 2016: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28122887/expanding-the-genetic-spectrum-of-anos1-mutations-in-patients-with-congenital-hypogonadotropic-hypogonadism
#18
C I Gonçalves, F Fonseca, T Borges, F Cunha, M C Lemos
STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER: Three of forty-two (7.1%) patients presented ANOS1 mutations, including a novel splice site mutation leading to exon skipping and a novel contiguous gene deletion associated with ichthyosis. WHAT IS KNOWN ALREADY: CHH is characterized by lack of pubertal development and infertility, due to deficient production, secretion or action of GnRH, and can be associated with anosmia/hyposmia (Kallmann syndrome, KS) or with a normal sense of smell (normosmic CHH)...
January 24, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28107468/micro-x-ray-computed-tomography-mass-loss-assessment-of-different-uhmwpe-a-hip-joint-simulator-study-on-standard-vs-cross-linked-polyethylene
#19
Saverio Affatato, Filippo Zanini, Simone Carmignato
More than 60.000 hip arthroplasty are performed every year in Italy. Although Ultra-High-Molecular-Weight-Polyethylene remains the most used material as acetabular cup, wear of this material induces over time in vivo a foreign-body response and consequently osteolysis, pain, and the need of implant revision. Furthermore, oxidative wear of the polyethylene provoke several and severe failures. To solve these problems, highly cross-linked polyethylene and Vitamin-E-stabilized polyethylene were introduced in the last years...
2017: PloS One
https://www.readbyqxmd.com/read/28103889/heterogeneity-of-g6pd-deficiency-prevalence-in-mozambique-a-school-based-cross-sectional-survey-in-three-different-regions
#20
Beatriz Galatas, Lurdes Mabote, Wilson Simone, Gloria Matambisso, Lidia Nhamussua, María Del Mar Mañú-Pereira, Clara Menéndez, Francisco Saute, Eusebio Macete, Quique Bassat, Pedro Alonso, Pedro Aide
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary enzymatic abnormality that affects more than 400 million people worldwide. Most deficient individuals do not manifest any symptoms; however, several precipitant agents-such as fava intake, infections, or several drugs-may trigger acute haemolytic anaemia. Countries should be informed of the prevalence of this enzymatic anomaly within their borders, in order to make safe and appropriate national decisions regarding the use of potentially unsafe drugs for G6PD deficient individuals...
January 19, 2017: Malaria Journal
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