bluuebunny/crossref_metadata_2025_split huggingface dataset:
Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
Authors: Truszkowska Grażyna T. , Bilińska Zofia T. , Muchowicz Angelika , Pollak Agnieszka , Biernacka Anna , Kozar-Kamińska Katarzyna , Stawiński Piotr , Gasperowicz Piotr , Kosińska Joanna , Zieliński Tomasz , Płoski Rafał 
Published: June 2017

AbstractThe genetic background of dilated cardiomyopathy is highly heterogeneous, with close to 100 known genes and a number of candidates described to date. Nebulin-related-anchoring protein (NRAP) is an actin-binding cytoskeletal protein expressed predominantly in striated and cardiac muscles, and is involved in myofibrillar assembly in the foetal heart and in force transmission in the adult heart. The homozygous NRAP truncating variant (rs201084642), which is predicted to introduce premature stop codon into all NRAP isoforms, was revealed in the dilated cardiomyopathy patient using whole exome sequencing. The same genotype was detected in the asymptomatic proband’s brother. The expression of the NRAP protein was undetectable in the patient’s heart muscle by the Western blot. Genotyping for rs201084642 in the ethnically matched cohort of 231 dilated cardiomyopathy patients did not reveal any additional subjects with this variant. Our findings suggest that the biallelic loss-of-function mutation in NRAP could constitute a relatively rare, low-penetrance genetic risk factor for dilated cardiomyopathy.
Bone Fusion in Normal and Pathological Development is Constrained by the Network Architecture of the Human Skull
Authors: Esteve-Altava Borja , Vallès-Català Toni , Guimerà Roger , Sales-Pardo Marta , Rasskin-Gutman Diego 
Published: June 2017

AbstractCraniosynostosis, the premature fusion of cranial bones, affects the correct development of the skull producing morphological malformations in newborns. To assess the susceptibility of each craniofacial articulation to close prematurely, we used a network model of the skull to quantify the link reliability (an index based on stochastic block models and Bayesian inference) of each articulation. We show that, of the 93 human skull articulations at birth, the few articulations that are associated with non-syndromic craniosynostosis conditions have statistically significant lower reliability scores than the others. In a similar way, articulations that close during the normal postnatal development of the skull have also lower reliability scores than those articulations that persist through adult life. These results indicate a relationship between the architecture of the skull and the specific articulations that close during normal development as well as in pathological conditions. Our findings suggest that the topological arrangement of skull bones might act as a structural constraint, predisposing some articulations to closure, both in normal and pathological development, also affecting the long-term evolution of the skull.
A Diet Diverse in Bamboo Parts is Important for Giant Panda (Ailuropoda melanoleuca) Metabolism and Health
Authors: Wang Hairui , Zhong Heju , Hou Rong , Ayala James , Liu Guangmang , Yuan Shibin , Yan Zheng , Zhang Wenping , Liu Yuliang , Cai Kailai , Cai Zhigang , Huang He , Zhang Zhihe , Wu De 
Published: June 2017

AbstractThe aim of this study was to determine the metabolic response in giant pandas (Ailuropoda melanoleuca) to the consumption of certain parts of bamboo above ground growth. Giant pandas were provisioned with three species of bamboo: Phyllostachys bissetii, of which they only consume the culm (culm group); Bashania fargesii, of which they only consume the leaves (leaf group); and Qiongzhuea opienensis, of which they only consume the shoots (shoot group). The “culm” group absorbed the highest amount of calories and fiber, but was in short energy supply (depressed tricarboxylic acid cycle activity), and high fiber level diet might reduce the digestibility of protein. The “culm” and “leaf” groups absorbed less protein, and had a lower rate of body mass growth than the “shoot” group. Digestion of fiber requires energy input and yields low caloric extraction from the culm and leaf, and protein intake is important for increasing body mass. However, long-term consumption of shoots may have a potentially negative effect on the health because of high protein composition. Therefore, a balanced diet consisting of diverse plant parts of bamboo is important for the overall metabolic function and health of captive giant pandas.
EP4 inhibition attenuates the development of diabetic and non-diabetic experimental kidney disease
Authors: Thieme Karina , Majumder Syamantak , Brijmohan Angela S. , Batchu Sri N. , Bowskill Bridgit B. , Alghamdi Tamadher A. , Advani Suzanne L. , Kabir M. Golam , Liu Youan , Advani Andrew 
Published: June 2017

AbstractThe therapeutic targeting of prostanoid subtype receptors may slow the development of chronic kidney disease (CKD) through mechanisms that are distinct from those of upstream COX inhibition. Here, employing multiple experimental models of CKD, we studied the effects of inhibition of the EP4 receptor, one of four receptor subtypes for the prostanoid prostaglandin E2. In streptozotocin-diabetic endothelial nitric oxide synthase knockout mice, EP4 inhibition attenuated the development of albuminuria, whereas the COX inhibitor indomethacin did not. In Type 2 diabetic db/db mice, EP4 inhibition lowered albuminuria to a level comparable with that of the ACE inhibitor captopril. However, unlike captopril, EP4 inhibition had no effect on blood pressure or hyperfiltration although it did attenuate mesangial matrix accumulation. Indicating a glucose-independent mechanism of action, EP4 inhibition also attenuated proteinuria development and glomerular scarring in non-diabetic rats subjected to surgical renal mass ablation. Finally, in vitro, EP4 inhibition prevented transforming growth factor-ß1 induced dedifferentiation of glomerular podocytes. In rodent models of diabetic and non-diabetic CKD, EP4 inhibition attenuated renal injury through mechanisms that were distinct from either broadspectrum COX inhibition or “standard of care” renin angiotensin system blockade. EP4 inhibition may represent a viable repurposing opportunity for the treatment of CKD.
Abrupt p-n junction using ionic gating at zero-bias in bilayer graphene
Authors: Grover Sameer , Joshi Anupama , Tulapurkar Ashwin , Deshmukh Mandar M. 
Published: June 2017

AbstractGraphene is a promising candidate for optoelectronic applications. In this report, a double gated bilayer graphene FET has been made using a combination of electrostatic and electrolytic gating in order to form an abrupt p-n junction. The presence of two Dirac peaks in the gating curve of the fabricated device confirms the formation of a p-n junction. At low temperatures, when the electrolyte is frozen intentionally, the photovoltage exhibits a six-fold pattern indicative of the hot electron induced photothermoelectric effect that has also been seen in graphene p-n junctions made using metallic gates. We have observed that the photovoltage increases with decreasing temperature indicating a dominant role of supercollision scattering. Our technique can also be extended to other 2D materials and to finer features that will lead to p-n junctions which span a large area, like a superlattice, that can generate a larger photoresponse. Our work creating abrupt p-n junctions is distinct from previous works that use a source–drain bias voltage with a single ionic gate creating a spatially graded p-n junction.
Single- and dual-band filtering-response power dividers embedded SIW filter with improved output isolation
Authors: Song Kaijun , Zhu Yu , Zhang Fan 
Published: June 2017

AbstractTwo filtering-response power dividers embedded substrate integrated waveguide (SIW) filter are presented in this paper. By employing different SIW resonators, single- and dual-band filtering response are achieved, respectively. The even- and odd-mode method and the coupled resonator theory are applied to analyze the presented power dividers. In addition, a novel isolation technique using multiple isolation resistors is proposed to improve the output isolation performance of the filtering-response power divider with multiple resonators. To verify the proposed circuits, the single- and dual-band filtering-response power dividers are designed, fabricated and measured. Reasonable agreement between the simulated and measured results is achieved. Moreover, the measured output isolation of the fabricated dual-band filtering-response power divider with multiple resonators is about 20 dB, which demonstrates the theoretical predication.
Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?
Authors: Valente Umberto , Vinanzi Cinzia , Dipresa Savina , Selice Riccardo , Menegazzo Massimo , Iafrate Massimo , Foresta Carlo , Garolla Andrea 
Published: June 2017

AbstractKlinefelter Syndrome (KS) is the most common chromosomal disorder in men leading to non-obstructive azoospermia. Spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. We evaluated AR variations and polymorphism length in 135 non-mosaic KS patients, aimed to find possible correlation with clinical features, sex hormones and sperm retrieval. Among 135 KS patients we found AR variations in eight subjects (5.9%). All variations but one caused a single amino acid substitution. Four variations P392S, Q58L, L548F, A475V found in six patients had been previously described to be associated with different degrees of androgen insensitivity. Moreover we observed in two patients Y359F and D732D novel variations representing respectively a missense variation and a synonymous variation not leading to amino acid substitution. All the Klinefelter patients with AR gene variations were azoospermic. Spermatozoa were retrieved with TESE for two men (40%), sperm retrieval was unsuccessful in other 3 patients. This is the only study reporting AR variations in KS patients. Relevant clinical differences not emerged between AR mutated and not AR mutated KS patients, but does each variation play an important role in the trasmission to the offspring obtained by ART in this patients?
Estimating fish abundance at spawning aggregations from courtship sound levels
Authors: Rowell Timothy J. , Demer David A. , Aburto-Oropeza Octavio , Cota-Nieto Juan José , Hyde John R. , Erisman Brad E. 
Published: June 2017

AbstractSound produced by fish spawning aggregations (FSAs) permits the use of passive acoustic methods to identify the timing and location of spawning. However, difficulties in relating sound levels to abundance have impeded the use of passive acoustics to conduct quantitative assessments of biomass. Here we show that models of measured fish sound production versus independently measured fish density can be generated to estimate abundance and biomass from sound levels at FSAs. We compared sound levels produced by spawning Gulf Corvina (Cynoscion othonopterus) with simultaneous measurements of density from active acoustic surveys in the Colorado River Delta, Mexico. During the formation of FSAs, we estimated peak abundance at 1.53 to 1.55 million fish, which equated to a biomass of 2,133 to 2,145 metric tons. Sound levels ranged from 0.02 to 12,738 Pa2, with larger measurements observed on outgoing tides. The relationship between sound levels and densities was variable across the duration of surveys but stabilized during the peak spawning period after high tide to produce a linear relationship. Our results support the use of active acoustic methods to estimate density, abundance, and biomass of fish at FSAs; using appropriately scaled empirical relationships, sound levels can be used to infer these estimates.
Coupling neutron reflectivity with cell-free protein synthesis to probe membrane protein structure in supported bilayers
Authors: Soranzo Thomas , Martin Donald K. , Lenormand Jean-Luc , Watkins Erik B. 
Published: June 2017

AbstractThe structure of the p7 viroporin, an oligomeric membrane protein ion channel involved in the assembly and release of the hepatitis C virus, was determined from proteins expressed and inserted directly into supported model lipid membranes using cell-free protein expression. Cell-free protein expression allowed (i ) high protein concentration in the membrane, (ii ) control of the protein’s isotopic constitution, and (iii ) control over the lipid environment available to the protein. Here, we used cell-free protein synthesis to directly incorporate the hepatitis C virus (HCV) p7 protein into supported lipid bilayers formed from physiologically relevant lipids (POPC or asolectin) for both direct structural measurements using neutron reflectivity (NR) and conductance measurements using electrical impedance spectroscopy (EIS). We report that HCV p7 from genotype 1a strain H77 adopts a conical shape within lipid bilayers and forms a viroporin upon oligomerization, confirmed by EIS conductance measurements. This combination of techniques represents a novel approach to the study of membrane proteins and, through the use of selective deuteration of particular amino acids to enhance neutron scattering contrast, has the promise to become a powerful tool for characterizing the protein conformation in physiologically relevant environments and for the development of biosensor applications.
Ohmyungsamycins promote antimicrobial responses through autophagy activation via AMP-activated protein kinase pathway
Authors: Kim Tae Sung , Shin Yern-Hyerk , Lee Hye-Mi , Kim Jin Kyung , Choe Jin Ho , Jang Ji-Chan , Um Soohyun , Jin Hyo Sun , Komatsu Masaaki , Cha Guang-Ho , Chae Han-Jung , Oh Dong-Chan , Jo Eun-Kyeong 
Published: June 2017

AbstractThe induction of host cell autophagy by various autophagy inducers contributes to the antimicrobial host defense against Mycobacterium tuberculosis (Mtb), a major pathogenic strain that causes human tuberculosis. In this study, we present a role for the newly identified cyclic peptides ohmyungsamycins (OMS) A and B in the antimicrobial responses against Mtb infections by activating autophagy in murine bone marrow-derived macrophages (BMDMs). OMS robustly activated autophagy, which was essentially required for the colocalization of LC3 autophagosomes with bacterial phagosomes and antimicrobial responses against Mtb in BMDMs. Using a Drosophila melanogaster–Mycobacterium marinum infection model, we showed that OMS-A-induced autophagy contributed to the increased survival of infected flies and the limitation of bacterial load. We further showed that OMS triggered AMP-activated protein kinase (AMPK) activation, which was required for OMS-mediated phagosome maturation and antimicrobial responses against Mtb. Moreover, treating BMDMs with OMS led to dose-dependent inhibition of macrophage inflammatory responses, which was also dependent on AMPK activation. Collectively, these data show that OMS is a promising candidate for new anti-mycobacterial therapeutics by activating antibacterial autophagy via AMPK-dependent signaling and suppressing excessive inflammation during Mtb infections.
Fuel loads acquired at a stopover site influence the pace of intercontinental migration in a boreal songbird
Authors: Gómez Camila , Bayly Nicholas J. , Norris D. Ryan , Mackenzie Stuart A. , Rosenberg Kenneth V. , Taylor Philip D. , Hobson Keith A. , Daniel Cadena Carlos 
Published: June 2017

AbstractLong-distance migratory organisms are under strong selection to migrate quickly. Stopovers demand more time than flying and are used by individuals to refuel during migration, but the effect of fuel loads (fat) acquired at stopover sites on the subsequent pace of migration has not been quantified. We studied stopover behaviour of Grey-cheeked Thrush (Catharus minimus) at a site in northern Colombia and then tracked their migration using an intercontinental radio-telemetry array. Tracking confirmed long-distance flights of more than 3000 km, highlighting the key importance of a single stopover site to the migration strategy of this species. Our results suggest that these songbirds behave as time-minimizers as predicted by optimal migration theory, and that fuel loads acquired at this South American stopover site, together with departure date, carry-over to influence the pace of migration, contributing to differences in travel time of up to 30 days in birds subsequently detected in the U. S. and Canada. Such variation in the pace of migration arising from a single stopover site, likely has important fitness consequences and suggests that identifying important fuelling sites will be essential to effectively conserve migratory species.
The Hippocampus Sparing Volume Modulated Arc Therapy does not Influence Plan Quality on Locally Advanced Nasopharyngeal Carcinoma Patients
Authors: Gu Wendong , Li Qilin , Xi Dan , Tian Ye , Mo Juncong , Pei Honglei 
Published: June 2017

AbstractIrradiation on hippocampus would lead to neuro-cognitive dysfunction in locally advanced nasopharyneal carcinoma (LA-NPC) patients accepting radiotherapy. Our study here aimed to investigate if undergoing hippocampus sparing (HS) volume modulated arc therapy (VMAT) would influence the plan quality in LA NPC patients. We designed three kinds of radiotherapeutic plans for 11 LA NPC patients: conventional VMAT (C-VMAT), HS-VMAT and HS intensity modulated radiation therapy with dynamic multileaf collimator (HS-dMLC). And the dose distribution on targets and surrounding organs at risk (OAR) were carefully evaluated. We found out that the expected doses on hippocampus were significantly lowered in HS-VMAT (899 ± 378 cGy) and HS-dMLC (896 ± 321 cGy) as compared to C-VMAT (1518 ± 337 cGy, p < 0.05), but meaningless difference was presented on plan quality of targets (p > 0.05). Moreover, lower radiation doses on brain stem were observed in HS-VMAT plan in comparison with C-VMAT plan (p < 0.05). However, there were no statistically meaningful diversities in the doses received by other OARs among all plans. Here we concluded that HS-VMAT presented promising advantages on protecting hipppcampus and brain stem as compared to C-VMAT and HS-dMLC, but enthusiastically had no effects on plan quality in LA-NPC patients.
Identification of postsynaptic phosphatidylinositol-4,5-bisphosphate (PIP2) roles for synaptic plasticity using chemically induced dimerization
Authors: Kim Su-Jeong , Jeong Min-Jae , Jo Hee-Jung , Jung Jung Hoon , Kaang Bong-Kiun , Choi Yun-Beom , Kim Joung-Hun 
Published: June 2017

AbstractPhosphatidylinositol-4,5-bisphosphate (PIP2), one of the key phospholipids, directly interacts with several membrane and cytosolic proteins at neuronal plasma membranes, leading to changes in neuronal properties including the feature and surface expression of ionotropic receptors. Although PIP2 is also concentrated at the dendritic spines, little is known about the direct physiological functions of PIP2 at postsynaptic as opposed to presynaptic sites. Most previous studies used genetic and pharmacological methods to modulate enzymes that alter PIP2 levels, making it difficult to delineate time- or region-specific roles of PIP2. We used chemically-induced dimerization to translocate inositol polyphosphate 5-phosphatase (Inp54p) to plasma membranes in the presence of rapamycin. Upon redistribution of Inp54p, long-term depression (LTD) induced by low-frequency stimulation was blocked in the mouse hippocampal CA3-CA1 pathway, but the catalytically-dead mutant did not affect LTD induction. Collectively, PIP2 is critically required for induction of LTD whereas translocation of Inp54p to plasma membranes has no effect on the intrinsic properties of the neurons, basal synaptic transmission, long-term potentiation or expression of LTD.
Shear stress induces endothelial-to-mesenchymal transition via the transcription factor Snail
Authors: Mahmoud Marwa M. , Serbanovic-Canic Jovana , Feng Shuang , Souilhol Celine , Xing Rouyu , Hsiao Sarah , Mammoto Akiko , Chen Jing , Ariaans Markus , Francis Sheila E. , Van der Heiden Kim , Ridger Victoria , Evans Paul C. 
Published: June 2017

AbstractBlood flow influences atherosclerosis by generating wall shear stress, which alters endothelial cell (EC) physiology. Low shear stress induces dedifferentiation of EC through a process termed endothelial-to-mesenchymal transition (EndMT). The mechanisms underlying shear stress-regulation of EndMT are uncertain. Here we investigated the role of the transcription factor Snail in low shear stress-induced EndMT. Studies of cultured EC exposed to flow revealed that low shear stress induced Snail expression. Using gene silencing it was demonstrated that Snail positively regulated the expression of EndMT markers (Slug, N-cadherin, α-SMA) in EC exposed to low shear stress. Gene silencing also revealed that Snail enhanced the permeability of endothelial monolayers to macromolecules by promoting EC proliferation and migration. En face staining of the murine aorta or carotid arteries modified with flow-altering cuffs demonstrated that Snail was expressed preferentially at low shear stress sites that are predisposed to atherosclerosis. Snail was also expressed in EC overlying atherosclerotic plaques in coronary arteries from patients with ischemic heart disease implying a role in human arterial disease. We conclude that Snail is an essential driver of EndMT under low shear stress conditions and may promote early atherogenesis by enhancing vascular permeability.
Orbital Angular Momentum (OAM) of Rotating Modes Driven by Electrons in Electron Cyclotron Masers
Authors: Sawant Ashwini , Choe Mun Seok , Thumm Manfred , Choi EunMi 
Published: June 2017

AbstractThe well-defined orbital angular momentum (OAM) of rotating cavity modes operating near the cutoff frequency excited by gyrating electrons in a high-power electron cyclotron maser (ECM)—a gyrotron—has been derived by photonic and electromagnetic wave approaches. A mode generator was built with a high-precision 3D printing technique to mimic the rotating gyrotron modes for precise low-power measurements and shows clear natural production of higher-order OAM modes. Cold-test measurements of higher-order OAM mode generation promise the realization towards wireless long-range communications using high-power ECMs.
Geometric quantum discords of interacting qubits in thermal reservoir
Authors: Li Zhao , Wang Xiao-Min , Zhou Wu , Hu Ming-Liang 
Published: June 2017

AbstractWe examined decay dynamics of various geometric quantum discords (GQDs) for two interacting qubits described by the Heisenberg XY model and further coupled independently to their respective thermal reservoirs. Compared to the case of noninteracting qubits, our results showed that decay rates of the GQDs can be retarded apparently by properly choosing system parameters of the interaction term. In the long-time limit, the asymptotic values of the GQDs are enhanced evidently by tuning anisotropy of the model and strength of the transverse magnetic field. We further illuminated the relations between different GQDs on characterizing quantum correlations, and observed multiple sudden change behaviors of their dynamics.