3,935 research outputs found
Seperation, identification and analysis of pigment (melanin) production in Streptomyces
Nine strains among 180 Streptomyces isolates produce a diffusible dark brown pigment on both peptone-yeast extract agar and synthetic tyrosine-agar. They also show the positive reaction to Ltyrosine or L-dopa substrates. The pigment has been referred to be as merely as dark brown watersolublepigment, as melanoid or melanin. The different carbon and nitrogen sources which influence the pigment production in the Streptomyces isolates were also investigated, and the carotenoid content in the pigment was analyzed. The melanin formation in the Streptomyces species is the key feature for the classification of the Stretomyces grou
CO adsorption on electrode of Pt nanoparticles investigated by cyclic voltammetry and in situ FTIR spectroscopy
Pt nanoparticles were prepared by the chemical reduction method. The average diameter of Pt nanoparticles was determined to be 2.5 nm by TEM. The electrochemical properties of Pt nanoparticles were studied by cyclic voltammetry. In comparison with massive Pt, the oxidation current peak of CO adsorbed on Pt nanoparticles is broader. Twin adsorbates of CO on Pt nanoparticles were determined by in situ FTIRS for the first time. It has revealed that the linear and twin-bonded CO can be converted into bridge-bonded CO with the variation of electrode potential. A series of special properties of Pt nanoparticles, such as enhanced IR absorption of CO adsorbates, were also observed
Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia
<p>Abstract</p> <p>Background</p> <p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (<it>RyR2</it>) gene. We sought to identify mutations in genes affecting cardiac calcium cycling in patients with CPVT and in less typical familial exercise-related ventricular arrhythmias.</p> <p>Methods and Results</p> <p>We recruited 33 consecutive patients with frequent ventricular premature complexes (VPCs) without structural heart disease and often history of syncope or sudden death in family. Sixteen of the patients featured a phenotype typical of CPVT. In 17 patients, VPCs emerged also at rest. Exercise stress test and echocardiography were performed to each patient and 232 family members. Familial background was evident in 42% of cases (n = 14). We sequenced all the coding exons of the <it>RyR2</it>, <it>FKBP1B</it>, <it>ATP2A2 </it>and <it>SLC8A1 </it>genes from the index patients. Single channel recordings of a mutant RyR2 were performed in planar lipid bilayers. Two novel <it>RyR2 </it>missense mutations (R1051P and S616L) and two <it>RyR2 </it>exon 3 deletions were identified, explaining 25% of the CPVT phenotypes. A rare variant (N3308S) with open probabilities similar to the wild type channels <it>in vitro</it>, was evident in a patient with resting VPCs. No disease-causing variants were detectable in the <it>FKBP1B</it>, <it>ATP2A2 </it>or <it>SLC8A1 </it>genes.</p> <p>Conclusion</p> <p>We report two novel CPVT-causing <it>RyR2 </it>mutations and a novel <it>RyR2 </it>variant of uncertain clinical significance in a patient with abundant resting VPCs. Our data also strengthen the previous assumption that exon 3 deletions of <it>RyR2 </it>should screened for in CPVT and related phenotypes.</p
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the noncoding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity, and magnetic resonance image changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, probably missed owing to failure of alignment.ConclusionThese cases illustrate potential pitfalls of WES/NGS testing and the importance of phenotype-guided molecular testing in yielding diagnoses
A Robust Peak-to-Average Power Ratio Reduction Scheme by Inserting Dummy Signals with Enhanced Partial Transmit Sequence in OFDM Systems.
Peak-to-average power ratio (PAPR) is one of the main drawbacks in orthogonal frequency division multiplexing (OFDM) systems. High PAPR forces the power amplifier to back off in order to operate in its linear region, which degrades the power efficiency of the system. Several PAPR reduction techniques have been developed, but most of them have not considered both complexity and PAPR reduction. In this paper, a novel PAPR reduction scheme based on the insertion of dummy sequences to an enhanced partial transmit sequence is proposed. By applying this scheme the PAPR performance is enhanced compared to the conventional methods while the complexity is significantly reduced. Numerical analysis is carried out with OFDM signal and QPSK modulation
Giant Faraday rotation in single- and multilayer graphene
Optical Faraday rotation is one of the most direct and practically important
manifestations of magnetically broken time-reversal symmetry. The rotation
angle is proportional to the distance traveled by the light, and up to now
sizeable effects were observed only in macroscopically thick samples and in
two-dimensional electron gases with effective thicknesses of several
nanometers. Here we demonstrate that a single atomic layer of carbon - graphene
- turns the polarization by several degrees in modest magnetic fields. The
rotation is found to be strongly enhanced by resonances originating from the
cyclotron effect in the classical regime and the inter-Landau-level transitions
in the quantum regime. Combined with the possibility of ambipolar doping, this
opens pathways to use graphene in fast tunable ultrathin infrared
magneto-optical devices
Antiretroviral therapy partially improves the abnormalities of dendritic cells and lymphoid and myeloid regulatory populations in recently infected HIV patients
This study aimed to evaluate the effects of antiretroviral therapy on plasmacytoid (pDC) and myeloid
(mDC) dendritic cells as well as regulatory T (Treg) and myeloid-derived suppressor (MDSC) cells in HIVinfected
patients. Forty-five HIV-infected patients (20 of them with detectable HIV load −10 recently
infected and 10 chronically infected patients-, at baseline and after antiretroviral therapy, and 25 with
undetectable viral loads) and 20 healthy controls were studied. The influence of HIV load, bacterial
translocation (measured by 16S rDNA and lipopolysaccharide-binding protein) and immune activation
markers (interleukin –IL- 6, soluble CD14, activated T cells) was analyzed. The absolute numbers and
percentages of pDC and mDC were significantly increased in patients. Patients with detectable viral
load exhibited increased intracellular expression of IL-12 by mDCs and interferon -IFN- α by pDCs.
Activated population markers were elevated, and the proportion of Tregs was significantly higher in
HIV-infected patients. The MDSC percentage was similar in patients and controls, but the intracellular
expression of IL-10 was significantly higher in patients. The achievement of undetectable HIV load
after therapy did not modify bacterial translocation parameters, but induce an increase in pDCs, mDCs
and MDSCs only in recently infected patients. Our data support the importance of early antiretroviral
therapy to preserve dendritic and regulatory cell function in HIV-infected individuals
The phylogenetically-related pattern recognition receptors EFR and XA21 recruit similar immune signaling components in monocots and dicots
During plant immunity, surface-localized pattern recognition receptors (PRRs) recognize pathogen-associated molecular patterns (PAMPs). The transfer of PRRs between plant species is a promising strategy for engineering broad-spectrum disease resistance. Thus, there is a great interest in understanding the mechanisms of PRR-mediated resistance across different plant species. Two well-characterized plant PRRs are the leucine-rich repeat receptor kinases (LRR-RKs) EFR and XA21 from Arabidopsis thaliana (Arabidopsis) and rice, respectively. Interestingly, despite being evolutionary distant, EFR and XA21 are phylogenetically closely related and are both members of the sub-family XII of LRR-RKs that contains numerous potential PRRs. Here, we compared the ability of these related PRRs to engage immune signaling across the monocots-dicots taxonomic divide. Using chimera between Arabidopsis EFR and rice XA21, we show that the kinase domain of the rice XA21 is functional in triggering elf18-induced signaling and quantitative immunity to the bacteria Pseudomonas syringae pv. tomato (Pto) DC3000 and Agrobacterium tumefaciens in Arabidopsis. Furthermore, the EFR:XA21 chimera associates dynamically in a ligand-dependent manner with known components of the EFR complex. Conversely, EFR associates with Arabidopsis orthologues of rice XA21-interacting proteins, which appear to be involved in EFR-mediated signaling and immunity in Arabidopsis. Our work indicates the overall functional conservation of immune components acting downstream of distinct LRR-RK-type PRRs between monocots and dicots
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