bluuebunny/crossref_metadata_2025_split huggingface dataset:
In vitro differentiation of human embryonic stem cells into ovarian follicle-like cells
Authors: Jung Dajung , Xiong Jie , Ye Min , Qin Xunsi , Li Lin , Cheng Shunfeng , Luo Mengyuan , Peng Jia , Dong Ji , Tang Fuchou , Shen Wei , Matzuk Martin M. , Kee Kehkooi 
Published: June 2017

AbstractUnderstanding the unique mechanisms of human oogenesis necessitates the development of an in vitro system of stem cell differentiation into oocytes. Specialized cell types and organoids have been derived from human pluripotent stem cells in vitro, but generating a human ovarian follicle remains a challenge. Here we report that human embryonic stem cells can be induced to differentiate into ovarian follicle-like cells (FLCs) in vitro. First, we find that two RNA-binding proteins specifically expressed in germ cells, DAZL and BOULE, regulate the exit from pluripotency and entry into meiosis. By expressing DAZL and BOULE with recombinant human GDF9 and BMP15, these meiotic germ cells are further induced to form ovarian FLCs, including oocytes and granulosa cells. This robust in vitro differentiation system will allow the study of the unique molecular mechanisms underlying human pluripotent stem cell differentiation into late primordial germ cells, meiotic germ cells and ovarian follicles.
Immiscible hydrocarbon fluids in the deep carbon cycle
Authors: Huang Fang , Daniel Isabelle , Cardon Hervé , Montagnac Gilles , Sverjensky Dimitri A. 
Published: June 2017

AbstractThe cycling of carbon between Earth’s surface and interior governs the long-term habitability of the planet. But how carbon migrates in the deep Earth is not well understood. In particular, the potential role of hydrocarbon fluids in the deep carbon cycle has long been controversial. Here we show that immiscible isobutane forms in situ from partial transformation of aqueous sodium acetate at 300 °C and 2.4–3.5 GPa and that over a broader range of pressures and temperatures theoretical predictions indicate that high pressure strongly opposes decomposition of isobutane, which may possibly coexist in equilibrium with silicate mineral assemblages. These results complement recent experimental evidence for immiscible methane-rich fluids at 600–700 °C and 1.5–2.5 GPa and the discovery of methane-rich fluid inclusions in metasomatized ophicarbonates at peak metamorphic conditions. Consequently, a variety of immiscible hydrocarbon fluids might facilitate carbon transfer in the deep carbon cycle.
Well-defined porous membranes for robust omniphobic surfaces via microfluidic emulsion templating
Authors: Zhu Pingan , Kong Tiantian , Tang Xin , Wang Liqiu 
Published: June 2017

AbstractDurability is a long-standing challenge in designing liquid-repellent surfaces. A high-performance omniphobic surface must robustly repel liquids, while maintaining mechanical/chemical stability. However, liquid repellency and mechanical durability are generally mutually exclusive properties for many omniphobic surfaces—improving one performance inevitably results in decreased performance in another. Here we report well-defined porous membranes for durable omniphobic surfaces inspired by the springtail cuticle. The omniphobicity is shown via an amphiphilic material micro-textured with re-entrant surface morphology; the mechanical durability arises from the interconnected microstructures. The innovative fabrication method—termed microfluidic emulsion templating—is facile, cost-effective, scalable and can precisely engineer the structural topographies. The robust omniphobic surface is expected to open up new avenues for diverse applications due to its mechanical and chemical robustness, transparency, reversible Cassie–Wenzel transition, transferability, flexibility and stretchability.
Genetic diagnosis of Mendelian disorders via RNA sequencing
Authors: Kremer Laura S. , Bader Daniel M. , Mertes Christian , Kopajtich Robert , Pichler Garwin , Iuso Arcangela , Haack Tobias B. , Graf Elisabeth , Schwarzmayr Thomas , Terrile Caterina , Koňaříková Eliška , Repp Birgit , Kastenmüller Gabi , Adamski Jerzy , Lichtner Peter , Leonhardt Christoph , Funalot Benoit , Donati Alice , Tiranti Valeria , Lombes Anne , Jardel Claude , Gläser Dieter , Taylor Robert W. , Ghezzi Daniele , Mayr Johannes A. , Rötig Agnes , Freisinger Peter , Distelmaier Felix , Strom Tim M. , Meitinger Thomas , Gagneur Julien , Prokisch Holger 
Published: June 2017

AbstractAcross a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome sequencing in principle reveals all genetic variants, their sizeable number and poorer annotation make prioritization challenging. Here, we demonstrate the power of transcriptome sequencing to molecularly diagnose 10% (5 of 48) of mitochondriopathy patients and identify candidate genes for the remainder. We find a median of one aberrantly expressed gene, five aberrant splicing events and six mono-allelically expressed rare variants in patient-derived fibroblasts and establish disease-causing roles for each kind. Private exons often arise from cryptic splice sites providing an important clue for variant prioritization. One such event is found in the complex I assembly factor TIMMDC1 establishing a novel disease-associated gene. In conclusion, our study expands the diagnostic tools for detecting non-exonic variants and provides examples of intronic loss-of-function variants with pathological relevance.
Quantum tunnelling and charge accumulation in organic ferroelectric memory diodes
Authors: Ghittorelli Matteo , Lenz Thomas , Sharifi Dehsari Hamed , Zhao Dong , Asadi Kamal , Blom Paul W. M. , Kovács-Vajna Zsolt M. , de Leeuw Dago M. , Torricelli Fabrizio 
Published: June 2017

AbstractNon-volatile memories—providing the information storage functionality—are crucial circuit components. Solution-processed organic ferroelectric memory diodes are the non-volatile memory candidate for flexible electronics, as witnessed by the industrial demonstration of a 1 kbit reconfigurable memory fabricated on a plastic foil. Further progress, however, is limited owing to the lack of understanding of the device physics, which is required for the technological implementation of high-density arrays. Here we show that ferroelectric diodes operate as vertical field-effect transistors at the pinch-off. The tunnelling injection and charge accumulation are the fundamental mechanisms governing the device operation. Surprisingly, thermionic emission can be disregarded and the on-state current is not space charge limited. The proposed model explains and unifies a wide range of experiments, provides important design rules for the implementation of organic ferroelectric memory diodes and predicts an ultimate theoretical array density of up to 1012 bit cm−2.
All-optical observation and reconstruction of spin wave dispersion
Authors: Hashimoto Yusuke , Daimon Shunsuke , Iguchi Ryo , Oikawa Yasuyuki , Shen Ka , Sato Koji , Bossini Davide , Tabuchi Yutaka , Satoh Takuya , Hillebrands Burkard , Bauer Gerrit E. W. , Johansen Tom H. , Kirilyuk Andrei , Rasing Theo , Saitoh Eiji 
Published: June 2017

AbstractTo know the properties of a particle or a wave, one should measure how its energy changes with its momentum. The relation between them is called the dispersion relation, which encodes essential information of the kinetics. In a magnet, the wave motion of atomic spins serves as an elementary excitation, called a spin wave, and behaves like a fictitious particle. Although the dispersion relation of spin waves governs many of the magnetic properties, observation of their entire dispersion is one of the challenges today. Spin waves whose dispersion is dominated by magnetostatic interaction are called pure-magnetostatic waves, which are still missing despite of their practical importance. Here, we report observation of the band dispersion relation of pure-magnetostatic waves by developing a table-top all-optical spectroscopy named spin-wave tomography. The result unmasks characteristics of pure-magnetostatic waves. We also demonstrate time-resolved measurements, which reveal coherent energy transfer between spin waves and lattice vibrations.
Glycated hemoglobin A1C and vitamin D and their association with diabetic retinopathy severity
Authors: Long M , Wang C , Liu D 
Published: June 2017

Abstract
Objectives:
This retrospective, population-based, cross-sectional study evaluated the association between vitamin D deficiency and retinopathy severity in diabetic patients with poorly or well controlled glycaemia. Other potential risk factors for diabetic retinopathy severity were also assessed.

Methods:
The National Health and Nutrition Examination Survey (NHANES) 2005–2008 data were used for the study. Outcomes assessed included retinopathy severity, HbA1c levels, socioeconomic, behavioral, and biological factors. Univariate and multivariate regression analysis was used to evaluate association of different parameters with retinopathy severity. The interaction among HbA1c control, vitamin D deficiency, and retinopathy severity were also explored.

Results:
The population included 842 adults (52.8% women) with mean age of 61.2 years. Retinopathy was detected in 301 subjects (35.7%). Mild non-proliferative retinopathy (NPR) was present in 195 subjects (23.2%), severe non-proliferative and proliferative retinopathy in 106 subjects (12.6%). Multivariate ordinal regression analysis found being male (odds ratio (OR): 1.602, P=0.001), increased duration of diabetes (OR: 1.072, P=3.77E−7) and poorly controlled HbA1c (OR: 3.522, P=2.00E−5) were associated with greater retinopathy severity. The association between vitamin D deficiency and retinopathy severity only found in diabetic patients with well controlled glycaemia.

Conclusions:
The findings of this study indicate that vitamin D deficiency associated with severe diabetic retinopathy in patients with well controlled diabetes. The findings provide possible relationship for the previous conflict results, and highlight the need for controlling modifiable risk factors to reduce the development of sever diabetic retinopathy.
Sequential self-assembly of DNA functionalized droplets
Authors: Zhang Yin , McMullen Angus , Pontani Lea-Laetitia , He Xiaojin , Sha Ruojie , Seeman Nadrian C. , Brujic Jasna , Chaikin Paul M. 
Published: June 2017

AbstractComplex structures and devices, both natural and manmade, are often constructed sequentially. From crystallization to embryogenesis, a nucleus or seed is formed and built upon. Sequential assembly allows for initiation, signaling, and logical programming, which are necessary for making enclosed, hierarchical structures. Although biology relies on such schemes, they have not been available in materials science. Here, we demonstrate programmed sequential self-assembly of DNA functionalized emulsions. The droplets are initially inert because the grafted DNA strands are pre-hybridized in pairs. Active strands on initiator droplets then displace one of the paired strands and thus release its complement, which in turn activates the next droplet in the sequence, akin to living polymerization. Our strategy provides time and logic control during the self-assembly process, and offers a new perspective on the synthesis of materials.
Use of a self-rating scale of the nature and severity of symptoms in Parkinson’s Disease (PRO-PD): Correlation with quality of life and existing scales of disease severity
Authors: Mischley Laurie K. , Lau Richard C. , Weiss Noel S. 
Published: June 2017

AbstractA self-rating scale was developed to permit patient-reported, remote assessment of Parkinson’s disease symptom severity. The goal was to create a continuous outcome measure that does not require a clinical exam, does not fluctuate in response to dopaminergic medications, takes only a few minutes to complete, allows for stratification by symptom(s), and captures both motor and non-motor Parkinson’s disease symptoms, major contributors to quality of life. The Patient Reported Outcomes in Parkinson’s Disease (PRO-PD) is the cumulative score of 32 slider bars, each evaluating a common Parkinson’s disease symptom. The PRO-PD has been used as an outcome measure in three studies. The baseline data from each of these studies were pooled for this analysis. Symptom frequency and severity are described, as well as correlation coefficients with existing measures of Parkinson's disease severity. Data on 1031 participants with Parkinson's disease were available for analysis. Fatigue, impaired handwriting, daytime sleepiness, slowness, tremor, muscle cramps, and forgetfulness were the most frequently reported symptoms. Persons with a relatively long duration of Parkinson's disease tended to report more, and more severe, symptoms. The PRO-PD was most highly correlated with the Parkinson’s Disease Questionaire-39 (r  =  0.763, P  <  0.000) and Patient-Reported Outcome Measurement Information System Global quality of life (r  =  −0.7293, P  <  0.000), other patient-reported quality of life measures. The PRO-PDnon-motor subset was highly correlated with the Non-Motor Symptom Score (r  =  0.7533, P  <  0.000). There was a moderate correlation seen with Hoehn & Yahr (r  =  0.5922, P  <  0.000), total Unified Parkinson’s disease Rating Scale (r  =  0.4724, P  <  0.000), and the Timed-Up-&-Go (r  =  0.4709, P  <  0.000). The PRO-PD may have utility for patients, providers, and researchers as a patient-centered measure of Parkinson’s disease symptom severity. Further PRO-PD validation efforts are warranted.
Generation of high-density biskyrmions by electric current
Authors: Peng Licong , Zhang Ying , He Min , Ding Bei , Wang Wenhong , Tian Huanfang , Li Jianqi , Wang Shouguo , Cai Jianwang , Wu Guangheng , Liu J. Ping , Kramer Matthew J. , Shen Bao-gen 
Published: June 2017

AbstractMuch interest has been focused on the manipulation of magnetic skyrmions, including the generation, annihilation, and motion behaviors, for potential applications in spintronics. Here, we experimentally demonstrate that a high-density Bloch-type biskyrmion lattice in MnNiGa can be generated by applying electric current. It is revealed that the density of biskyrmions can be remarkably increased by increasing the electric current, in contrast to the scattered biskyrmions induced by a magnetic field alone. Furthermore, the transition from the ferromagnetic state to the stripe domain structure can be terminated by the electric current, leading to the biskyrmions dominated residual domain pattern. These biskyrmions in such residual domain structure are extremely stable at zero magnetic and electric fields and can further evolve into the high-density biskyrmion lattice over a temperature range from 100 to 330 K. Our experimental findings open up a new pathway for the generation of skyrmion lattice by electric current manipulation.
Social learning through prediction error in the brain
Authors: Joiner Jessica , Piva Matthew , Turrin Courtney , Chang Steve W. C. 
Published: June 2017

AbstractLearning about the world is critical to survival and success. In social animals, learning about others is a necessary component of navigating the social world, ultimately contributing to increasing evolutionary fitness. How humans and nonhuman animals represent the internal states and experiences of others has long been a subject of intense interest in the developmental psychology tradition, and, more recently, in studies of learning and decision making involving self and other. In this review, we explore how psychology conceptualizes the process of representing others, and how neuroscience has uncovered correlates of reinforcement learning signals to explore the neural mechanisms underlying social learning from the perspective of representing reward-related information about self and other. In particular, we discuss self-referenced and other-referenced types of reward prediction errors across multiple brain structures that effectively allow reinforcement learning algorithms to mediate social learning. Prediction-based computational principles in the brain may be strikingly conserved between self-referenced and other-referenced information.
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
Authors: Bogaert Delfien J. , Dullaers Melissa , Kuehn Hye Sun , Leroy Bart P. , Niemela Julie E. , De Wilde Hans , De Schryver Sarah , De Bruyne Marieke , Coppieters Frauke , Lambrecht Bart N. , De Baets Frans , Rosenzweig Sergio D. , De Baere Elfride , Haerynck Filomeen 
Published: June 2017

AbstractSyndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time. Additional features not typically associated with common variable immunodeficiency were diagnosed only later, including skeletal and organ anomalies and mild facial dysmorphism. Whole exome sequencing revealed KMT2A-associated Wiedemann-Steiner syndrome in one sibling pair and their mother. In the other sibling pair, targeted testing of the known disease gene for Roifman syndrome (RNU4ATAC) provided a definite diagnosis. With this study, we underline the importance of an early-stage and thorough genetic assessment in paediatric patients with a common variable immunodeficiency phenotype, to establish a conclusive diagnosis and guide patient management. In addition, this study extends the mutational and immunophenotypical spectrum of Wiedemann-Steiner and Roifman syndromes and highlights potential directions for future pathophysiological research.
Updating the Phylogenetic Dating of New Caledonian Biodiversity with a Meta-analysis of the Available Evidence
Authors: Nattier Romain , Pellens Roseli , Robillard Tony , Jourdan Hervé , Legendre Frédéric , Caesar Maram , Nel André , Grandcolas Philippe 
Published: June 2017

AbstractFor a long time, New Caledonia was considered a continental island, a fragment of Gondwana harbouring old clades that originated by vicariance and so were thought to be locally ancient. Recent molecular phylogenetic studies dating diversification and geological data indicating important events of submergence during the Paleocene and Eocene (until 37 Ma) brought evidence to dismiss this old hypothesis. In spite of this, some authors still insist on the idea of a local permanence of a Gondwanan biota, justifying this assumption through a complex scenario of survival by hopping to and from nearby and now-vanished islands. Based on a comprehensive review of the literature, we found 40 studies dating regional clades of diverse organisms and we used them to test the hypothesis that New Caledonian and inclusive Pacific island clades are older than 37 Ma. The results of this meta-analysis provide strong evidence for refuting the hypothesis of a Gondwanan refuge with a biota that originated by vicariance. Only a few inclusive Pacific clades (6 out of 40) were older than the oldest existing island. We suggest that these clades could have extinct members either on vanished islands or nearby continents, emphasizing the role of dispersal and extinction in shaping the present-day biota.
EV-3, an endogenous human erythropoietin isoform with distinct functional relevance
Authors: Bonnas Christel , Wüstefeld Liane , Winkler Daniela , Kronstein-Wiedemann Romy , Dere Ekrem , Specht Katja , Boxberg Melanie , Tonn Torsten , Ehrenreich Hannelore , Stadler Herbert , Sillaber Inge 
Published: June 2017

AbstractGeneration of multiple mRNAs by alternative splicing is well known in the group of cytokines and has recently been reported for the human erythropoietin (EPO) gene. Here, we focus on the alternatively spliced EPO transcript characterized by deletion of exon 3 (hEPOΔ3). We show co-regulation of EPO and hEPOΔ3 in human diseased tissue. The expression of hEPOΔ3 in various human samples was low under normal conditions, and distinctly increased in pathological states. Concomitant up-regulation of hEPOΔ3 and EPO in response to hypoxic conditions was also observed in HepG2 cell cultures. Using LC-ESI-MS/MS, we provide first evidence for the existence of hEPOΔ3 derived protein EV-3 in human serum from healthy donors. Contrary to EPO, recombinant EV-3 did not promote early erythroid progenitors in cultures of human CD34+ haematopoietic stem cells. Repeated intraperitoneal administration of EV-3 in mice did not affect the haematocrit. Similar to EPO, EV-3 acted anti-apoptotic in rat hippocampal neurons exposed to oxygen-glucose deprivation. Employing the touch-screen paradigm of long-term visual discrimination learning, we obtained first in vivo evidence of beneficial effects of EV-3 on cognition. This is the first report on the presence of a naturally occurring EPO protein isoform in human serum sharing non-erythropoietic functions with EPO.
Dipeptidyl Peptidase-4 and Adolescent Idiopathic Scoliosis: Expression in Osteoblasts
Authors: Normand Emilie , Franco Anita , Moreau Alain , Marcil Valérie 
Published: June 2017

AbstractIt has been proposed that girls with adolescent idiopathic scoliosis (AIS) tend to have a taller stature and a lower body mass index. Energy homeostasis, that is known to affect bone growth, could contribute to these characteristics. In circulation, dipeptidyl peptidase-4 (DPP-4) inactivates glucagon-like peptide-1 (GLP-1), an incretin that promotes insulin secretion and sensitivity. Our objectives were to investigate DPP-4 status in plasma and in osteoblasts of AIS subjects and controls and to evaluate the regulatory role of metabolic effectors on DPP-4 expression. DPP-4 activity was assessed in plasma of 113 girls and 62 age-matched controls. Osteoblasts were isolated from bone specimens of AIS patients and controls. Human cells were incubated with glucose, insulin, GLP-1 and butyrate. Gene and protein expressions were evaluated by RT-qPCR and Western blot. Our results showed 14% inferior plasma DPP-4 activity in AIS patients when compared to healthy controls (P = 0.0357). Similarly, osteoblasts derived from AIS subjects had lower DPP-4 gene and protein expression than controls by 90.5% and 57.1% respectively (P < 0.009). DPP-4 expression was regulated in a different manner in osteoblasts isolated from AIS participants compared to controls. Our results suggest a role for incretins in AIS development and severity.