bluuebunny/crossref_metadata_2025_split huggingface dataset:
Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicingSBF2 (MTMR13)genetic variant: a new spontaneous clinical model
Authors: Granger Nicolas , Luján Feliu-Pascual Alejandro , Spicer Charlotte , Ricketts Sally , Hitti Rebekkah , Forman Oliver , Hersheson Joshua , Houlden Henry 
Published: November 2019

BackgroundCharcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder in humans affecting 40 out of 100,000 individuals. In 2008, we described the clinical, electrophysiological and pathological findings of a demyelinating motor and sensory neuropathy in Miniature Schnauzer dogs, with a suspected autosomal recessive mode of inheritance based on pedigree analysis. The discovery of additional cases has followed this work and led to a genome-wide association mapping approach to search for the underlying genetic cause of the disease.MethodsFor genome wide association screening, genomic DNA samples from affected and unaffected dogs were genotyped using the Illumina CanineHD SNP genotyping array.SBF2and its variant were sequenced using primers and PCRs. RNA was extracted from muscle of an unaffected and an affected dog and RT-PCR performed. Immunohistochemistry for myelin basic protein was performed on peripheral nerve section specimens.ResultsThe genome-wide association study gave an indicative signal on canine chromosome 21. Although the signal was not of genome-wide significance due to the small number of cases, theSBF2(also known asMTMR13)gene within the region of shared case homozygosity was a strong positional candidate, as 22 genetic variants in the gene have been associated with demyelinating forms of Charcot-Marie-Tooth disease in humans. Sequencing ofSBF2in cases revealed a splice donor site genetic variant, resulting in cryptic splicing and predicted early termination of the protein based on RNA sequencing results.ConclusionsThis study reports the first genetic variant in Miniature Schnauzer dogs responsible for the occurrence of a demyelinating peripheral neuropathy with abnormally folded myelin. This discovery establishes a genotype/phenotype correlation in affected Miniature Schnauzers that can be used for the diagnosis of these dogs. It further supports the dog as a natural model of a human disease; in this instance, Charcot-Marie-Tooth disease. It opens avenues to search the biological mechanisms responsible for the disease and to test new therapies in a non-rodent large animal model. In particular, recent gene editing methods that led to the restoration of dystrophin expression in a canine model of muscular dystrophy could be applied to other canine models such as this before translation to humans.
Transcriptome profiling analysis reveals key genes of different coat color in sheep skin
Authors: Yao Lidan , Bao Aodungerile , Hong Wenjuan , Hou Chenxi , Zhang Zhenliang , Liang Xiaopeng , Aniwashi Jueken 
Published: November 2019

Background
To investigate the molecular mechanisms determining the coat color of native breed sheep in Xinjiang.

Methods
Bashibai sheep, Yemule white sheep and Tulufan black sheep were selected. Illumina HiSeq X Ten sequencing technology was used to detect the genes responsible for the white, light brown, black and cyan gray coat colors in sheep. Sequence analysis and functional gene annotation analysis were performed to analyze the results. The signal pathways and differentially expressed genes related to sheep hair color production regulation were screened and finally verified by real-time polymerase chain reaction.

Results
Functional annotation by Kyoto Encyclopedia of Genes and Genomes analysis revealed significant differences in enrichment of immunity-related pathways as well as melanogenesis synthetic and tyrosine metabolism pathways. Our results showed that the DCT, TYR, TYRP1, PMEL, SLC45A2 and MLANA six genes may be associated with the regulation of coat color development and provide a theoretical basis for selecting natural coat colors of sheep.
Comparison of Mycelial Growth of Different Tricholoma matsutake Strains in Soil Medium at Varying Temperatures
Authors: Narimatsu Maki , Yamaguchi Muneyoshi , Yamanaka Takashi , Gisusi Seiki , Azuma Tomonori , Tamai Yutaka , Fujita Tohru , Kawai Masataka 
Published: November 2019

Aims: To investigate the effect of temperature on the mycelial growth of the highly prized mushroom, Tricholoma matsutake, in soil medium.
Methodology: Seven strains of T. matsutake collected from different areas of Japan were incubated in soil medium at 5, 10, 15, 20, 25, and 30°C for 89 day. After incubation, the linear growth of mycelia from the inoculum was measured on vertical lines under a dissecting microscope and classified by the cultivation day number to obtain the growth rate in each vial. The mycelial densities in the soil medium in all the vials were analyzed using qPCR to determine the mycelial biomass.
Results: The mycelial growth of T. matsutake strains was mainly observed at 5–25°C. The optimum temperatures for linear mycelial growth and for the increase in mycelial density were 19.6°C and 17.6°C, respectively. These values were lower than those reported previously for T. matsutake grown on agar medium or in liquid medium. These optimum temperatures showed no clear relationship with the mean air temperature at the site of strain collection.
Conclusion: It can be suggested that a temperature around 18°C is suitable for cultivation of T. matsutake mycelia in the soil medium.
Crops and Drought
Authors: Thabet Samar G , Alqudah Ahmad M 
Published: November 2019

Abstract

Water deficit or drought is the most prevalent abiotic stress factors in the world and most detrimental for agronomic and yield, thence, economic. Crop growth at developmental stages negatively influenced by drought due to morphological damages, physiological disruptions and biochemical alternations, and, therefore, yield losses. The escalating drastic impacts of drought stress putting global crop production as well as food security at high risk. Plant crops developed different physiological and genetic mechanisms includes drought escape, avoidance and tolerance. Understanding these mechanisms can help in improving crop performance and adaptation under drought conditions. Improving drought tolerance varieties with high yield potential under such harsh stress conditions is the ultimate target of crop breeding program. Interestingly, many quantitative trait loci (QTLs) for drought stress tolerance have been detected in economically important crops, but few of them have been efficiently utilised in breeding.

Key Concepts

Water deficit or drought is the most prevalent abiotic stress factors in the world.

Crop growth and development are adversely influenced by drought.

Drought is considered as the most detrimental for agronomic and yield.

Plant response to drought by morphological, physiological and biochemical mechanisims.

Drought response mechanisms includes drought escape, avoidance, and tolerance.

Many QTLs for drought stress tolerance have been detected.

Drought tolerance is a complex and polygenic trait controlled by many genes and influenced by environments.
Endophytic Fungi
Authors: Koide Roger T 
Published: November 2019

Abstract

Endophytic fungi are those that colonise the tissues of virtually all terrestrial plants species. Endophytism has evolved multiple times among disparate lineages of fungi. Thus, there are currently no natural systems for classifying endophytic fungi. Not surprisingly, their impacts on host plants may be negative, neutral or positive depending on both fungus–host combination and environmental conditions. From an ecological point of view, endophytic fungi may function nonexclusively as weak pathogens, saprotrophs or mutualists, depending on circumstances. Because some interactions between endophytic fungi and plants are highly beneficial to plants, particularly under stressful conditions, there is an interest in inoculating agricultural crops with particular fungal strains to improve yield. However, care must be exercised because a fungus that is beneficial to one plant species under particular circumstances may be less so under other circumstances or to other plant species.

Key Concepts

Endophytic fungi colonise living tissues of virtually all terrestrial plants.

Multiple lineages of fungi have evolved to engage in this symbiosis.

Transmission of fungal propagules may be either vertical or horizontal.

When the transmission is horizontal, colonisation may be limited by distance to inoculum source.

Endophytic fungi benefit from the symbiosis, but the net effect on the plant may be positive, neutral or negative.

Some endophytic fungi may function as plant pathogens under certain circumstances.

Some endophytic fungi may function as decomposers of plant litter.

Some endophytic fungi may confer a substantial benefit to their host plants.

Because endophytic fungi influence traits that determine plant fitness, it is useful to consider the symbiosis a holobiont.

Endophytic fungal inoculants are being considered in agricultural systems, but their impacts on nontarget plant species need to be carefully considered.
Molecular Genetics of Oral‐Facial‐Digital Syndromes
Authors: Franco Brunella 
Published: November 2019

AbstractOral‐facial‐digital syndromes (OFDS) identify a group of rare and genetically heterogeneous disorders. Typical features include abnormalities of the face, oral cavity and digits with frequent involvement of the central nervous system and of visceral organs. OFD type I was first described in 1941 and to date, several different forms have been reported. It is still unclear whether all the described subtypes do exist, and only next‐generation sequencing approaches will clarify the number of different OFDS. Sixteen genes have been found mutated to date and all of them localise to the primary cilium, a microtubule‐based organelle conserved across species protruding from the cell surface of vertebrate cells. These transcripts contribute to primary cilia structure/formation/maintenance and/or function thus ascribing this condition to the number of disorders due to cilia dysfunction called ‘ciliopathies.’Key ConceptsOFDS are rare and highly heterogeneous from a genetic point of view.NGS approaches will eventually define the exact number of different OFDS.A multiallelic mode of inheritance may modify the phenotype in OFDS patients.Most of the OFDS are due to dysfunction of primary cilia.The majority of genes responsible for OFDs are localized to primary cilia.
Genetic Basis of Disease
Authors: Jackson Maria , Marks Leah 
Published: November 2019

Abstract

Differences between our individual genomes not only make us appear different from each other; these differences also play a key role in determining disease susceptibility. The effect of a single alteration in the DNA sequence may range from a certainty of severe disease to a slight predisposition that may become manifest in the presence of other genetic or environmental influences. The vast array of mechanisms by which genetic changes can lead to disease reflects the overall complexity of the underlying biological processes and the variety of ways in which these can be disrupted.

Key Concepts

Genetic disease can be due to a variety of different types of alteration in the human genome: extra or missing chromosomes, large chromosomal rearrangements, smaller deletions, insertions or substitutions of one or more nucleotides and even changes affecting the ability of genes to be switched on (epigenetics).

Genetic variation is a normal characteristic of the human genome, and the effects of genetic variants range across a whole spectrum of substantial effect (complete loss of function or significant gain of function) to relatively minor or even zero effect on function.

Genetic variants that are associated with disease are termed pathogenic, whilst variants that appear to have no significant effect upon health are termed benign.

Recessive genetic disorders are a consequence of loss of function in both gene copies (i.e. both the maternally inherited and paternally inherited copies).

Dominant genetic disorders are caused by either gain of function in one gene copy (either maternally or paternally inherited), or by loss of function in one gene copy in cases where the amount of gene product from a single gene copy is insufficient.

Some genetic disorders are a consequence of alterations affecting the mitochondrial DNA.

Although we inherit most of our genetic variants from our parents, we each have a number of
de novo
genetic changes, which may occasionally be associated with disease; some DNA sequences in our genome (e.g. triplet repeats) are particularly prone to new mutations.

Cancer is a disease that is associated with the accumulation of multiple genetic changes that generally occur over the lifetime of the individual.

Variants present in our genome make a contribution to virtually all human disease, sometimes as a consequence of cumulative effects of many variants across the genome which have small individual effects.
Bacteria‐Instructed In Situ Aggregation of AuNPs with Enhanced Photoacoustic Signal for Bacterial Infection Bioimaging
Authors: Lu Shi‐Zhao , Guo Xiao‐Yan , Zou Mei‐Shuai , Zheng Zi‐Qin , Li Yu‐Chuan , Li Xiao‐Dong , Li Li‐Li , Wang Hao 
Published: November 2019

AbstractThe emergence of drug‐resistant bacteria is becoming the focus of global public health. Early‐stage pathogen bioimaging will offer a unique perspective to obtain infection information in patients. A photoacoustic (PA) contrast agent based on functional peptide modified gold nanoparticles (AuNPs@P1) is developed. These nanoparticles can be specifically tailored surface peptides by bacterial overexpressed enzyme inducing in situ aggregation of the gold nanoparticles. In the meantime, the close aggregation based on the hydrogen bonding, π–π stacking, and hydrophobic interaction of the peptide residues on the surface of gold nanoparticles exhibits a typical redshifted and broadened plasmon band. In addition, this active targeting and following in situ stimuli‐induced aggregation contribute to increased nanoparticle accumulation in the infected site. Finally, the dynamic aggregation of AuNPs@P1 results in dramatically enhanced photoacoustic signals for bioimaging bacterial infection in vivo with high sensitivity and specificity. It is envisioned that this PA contrast agent may provide a new approach for early detection of bacterial infection in vivo.
Iron Catalyzed Synthesis of Pyrimidines Under Air
Authors: Mondal Rakesh , Sinha Suman , Das Siuli , Chakraborty Gargi , Paul Nanda D. 
Published: November 2019

AbstractHerein we report an iron‐catalyzed multicomponent dehydrogenative functionalization of alcohols to pyrimidines under atmospheric conditions. Using a well‐defined Fe(II)‐complex featuring redox noninnocent 2‐phenylazo‐(1,10‐phenanthroline) ligand, as a catalyst, a wide array of 2,4,6‐trisubstituted pyrimidines were prepared via dehydrogenative coupling of primary and secondary alcohols with amidines under air at 100 °C. A few control experiments were carried out to understand and unveil the plausible reaction mechanism.magnified image
Arsenic Sulfide Nanoformulation Induces Megakaryocytic Differentiation through Histone Deacetylase Inhibition
Authors: Jia Mengfan , Wang Tao , Xu Shilin , Liu Jian , Wen Tao , Meng Jie , Xu Haiyan 
Published: November 2019

AbstractArsenic sulfide (As4S4) is a mineral drug that can be administrated orally and has been applied in several Chinese medicine formulations for the treatment on some kinds of myeloid leukemia. However, mechanisms of As4S4 are not demonstrated adequately due to the poor water solubility of As4S4 in its original crystal form. The authors previously fabricated water dissolvable arsenic sulfide nanoformulation (ee‐As4S4), which downregulated intracellular reactive oxygen species (ROS). As ROS is closely associated with the histone deacetylase (HDAC), in this study the effect of ee‐As4S4 on the HDAC activity in chronic myeloid leukemia (CML) cells and whether the effect can induce subsequent megakaryocytic differentiation and underlying mechanisms are investigated. Results show that ee‐As4S4 inhibits HDAC activity in CML cells, resulting in the suppression of cellular respiration. The inhibition of HDAC activity also leads to the transcriptional activation of RUNX1, which induces megakaryocytic differentiation in CML cell lines, evidenced by the significantly multiple nuclei and giant nuclear structure, upregulation of CD41a and the increased phosphorylation of ERK1/2. In conclusion, ee‐As4S4 is able to inhibit HDAC activity, and therefore induce significant megakaryocytic differentiation in CML cells through RUNX1‐dependent pathways, which suggests its clinical potential as a complementary drug option for CML patients.
Ink Development and Printing of Conducting Polymers for Intrinsically Stretchable Interconnects and Circuits
Authors: Kraft Ulrike , Molina‐Lopez Francisco , Son Donghee , Bao Zhenan , Murmann Boris 
Published: November 2019

AbstractPrintable elastic conductors open up new opportunities in large‐area fabrication of wearable electronics and prosthetics. Furthermore, they have the potential to advance health monitoring and continuous diagnostics by implementing sensor arrays in close proximity to the skin. Such devices need to be comfortable to wear and must accommodate strains and deformations such as twisting and stretching. A conductive polymer ink for elastic interconnects and electrodes is introduced. The processability by inkjet printing enables versatile, contactless, and maskless large area processing. The printed PEDOT:PSS‐based interconnects have conductivities as high as 700 S cm−1, sustain strains above 100% and show good stability in air (less than 5% change in resistance in 1 month). The conductivity is among the highest reported for inkjet‐printed PEDOT:PSS and is interesting not only for stretchable circuits, but also for printed flexible and rigid PEDOT:PSS‐based applications such as solar cells, organic light emitting diodes, and electrochemical sensors.
Inkjet‐Printed Indium Oxide/Carbon Nanotube Heterojunctions for Gate‐Tunable Diodes
Authors: Kim Bongjun 
Published: November 2019

Abstractvan der Waals heterojunctions composed of dissimilar materials enable fabrication of gate‐tunable diodes showing negative transconductance characteristics. Such devices show great potential for implementation of multi‐valued logic circuits. In order to integrate such circuits, p–n heterojunctions should be reliably created by using scalable and cost‐effective methods. Gate‐tunable diodes made of p–n heterojunctions are constructed from the hybrid material combination of inkjet‐printed indium oxide and single‐walled carbon nanotubes. Inkjet printing of p–n heterojunctions in which semiconductors are partially overlapped is enabled by modification of surface conditions using plasma treatment. The resulting devices, whose p–n junctions as well as electrodes are solely formed by inkjet printing, exhibit anti‐ambipolar behavior with negative transconductance. Forward currents of these devices can be modulated by varying the gate bias.
Vapor‐ and liquid‐phase adsorption of alcohol and water in silicalite‐1 synthesized in fluoride media
Authors: DeJaco Robert F. , Dorneles de Mello Matheus , Nguyen Huong Giang T. , Jeon Mi Young , van Zee Roger D. , Tsapatsis Michael , Siepmann Joern Ilja 
Published: November 2019

AbstractIn this work, batch‐adsorption experiments and molecular simulations are employed to probe the adsorption of binary mixtures containing ethanol or a linear alkane‐1,n‐diol solvated in water or ethanol onto silicalite‐1. Since the batch‐adsorption experiments require an additional relationship to determine the amount of solute (and solvent) adsorbed, as only the bulk liquid reservoir can be probed directly, molecular simulations are used to provide a relationship between solute and solvent adsorption for input to the experimental bulk measurements. The combination of bulk experimental measurements and simulated solute–solvent relationship yields solvent and solute loadings that are self‐consistent with simulation alone, and allow for an assessment of the various assumptions made in the literature. At low solution concentrations, the solute loading calculated is independent of the assumption made. At high concentrations, a negligent choice of assumption can lead to systematic overestimation or underestimation of calculated solute loading.
Droplet dynamic response in low‐viscosity fluid subjected to a pulsed electric field and an alternating electric field
Authors: Huang Xin , He Limin , Luo Xiaoming , Yin Haoran 
Published: November 2019

AbstractDroplet dynamic response in low‐viscosity fluid under a pulsed direct‐current (DC) electric field and a sinusoidal electric field is investigated by experiments and numerical simulations. The coupled level set and volume of fluid method is employed to capture moving interface and the numerical method is validated by experimental results. This article focuses on the effects of waveform, frequency and initial phase on the dynamic response. The deformation period is identical with the electric period for the pulsed DC electric field but the deformation period is half of the electric period for the sinusoidal electric field. As the frequency increases, the maximum deformation degree Dmax first climbs steadily to a peak value, then decreases steeply and finally approaches an equilibrium value. The maximum Dmax appears at f = 50 Hz for the pulsed DC electric field and appears at f = 100 Hz for the sinusoidal electric field according to numerical results. These results are helpful for the optimization of electro‐coalescence.
Optimal European cooperative supply chains for carbon capture, transport, and sequestration with costs share policies
Authors: d'Amore Federico , Bezzo Fabrizio 
Published: November 2019

AbstractIn the past decades, CO2 constituted nearly the 80% of anthropogenic greenhouse gases emissions therefore, global actions are needed to tackle the increase of carbon concentration in the atmosphere. CO2 (carbon) capture and storage has been highlighted among the most promising options to decarbonize the energy and industry sectors. Considering a large‐scale infrastructure at European level, economic cooperation has been highlighted as a key requirement to relieve single countries from too high risk and commitment. This article proposes an economic optimization for cooperative supply chains for CO2 capture and storage, by adopting policies that balance the spread of costs among countries, according to local characteristics in terms of population, CO2 emissions, and macroeconomic outcome. Results show that the additional European investment for cooperation (max. +2.6% with respect to a noncooperative network) should not constitute a barrier toward the installation and operation of such more effective network designs.