bluuebunny/crossref_metadata_2025_split huggingface dataset:
Color Pupillography in Dorsal Midbrain Syndrome
Authors: Kelbsch Carina B. , Maeda Fumiatsu , Strasser Torsten , Peters Tobias M. , Wilhelm Barbara J. C. , Wilhelm Helmut M. 
Published: July 2017

Objective:
The purpose of this study was to evaluate the pupil response to chromatic stimuli in patients with lesions in the dorsal midbrain and possibly gain new insights into the afferent pupillary pathways.

Methods:
Color pupillography was performed in 5 patients with dorsal midbrain syndrome (DMS), and their results were compared with those of 20 healthy control subjects. We used full-field red stimuli (605 nm) that primarily address the rod/cone system and blue stimuli (420 nm) that preferentially activate intrinsically photosensitive retinal ganglion cells (ipRGCs) directly, with a duration of 4 seconds and a stimulus intensity of 28 lx corneal illumination under mesopic conditions. One eye was stimulated, and the consensual pupil response was recorded and analyzed.

Results:
The pupillary light reflex in patients with DMS was reduced, differed in shape, and showed a prolonged latency time compared to normal subjects. The blue response was less affected than the red response: the mean maximal relative amplitude (M) was 15.8% (SD = 7.8) in patients with DMS compared with 43.0% (SD = 5.5) in normal subjects for red stimulation, and M = 40.8%, SD = 8.4 (DMS) with M = 58.3%, SD = 4.8 (normals) for blue stimulation. The reduction was 63% for red stimulation but only 30% for blue stimulation in patients with DMS. Moreover, there was a preserved postillumination pupil response to blue stimulation in DMS patients.

Conclusions:
In DMS, the melanopsin-mediated ipRGC pathway appeared relatively preserved.
A mutation in theLMOD1actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections
Authors: Wan Y.B.A. , Simpson M.A. , Aragon-Martin J.A. , Osborn D.P.S. , Regalado E. , Guo D.C. , Boileau C. , Jondeau G. , Benarroch L. , Isekame Y. , Bharj J. , Sneddon J. , Fisher E. , Dean J. , Tome Esteban M.T. , Saggar A. , Milewicz D. , Jahangiri M. , Behr E. R. , Smith A. , Child A. H. 
Published: July 2017

AbstractWe describe a mutation inLMOD1, which predisposes individuals to thoracic aortic aneurysms and dissections in a large multi-generation British family. Exome variant profiles for the proband and two distantly related affected relatives were generated and a rare protein-altering, heterozygous variant was identified, present in all the exome-sequenced affected individuals. The allele c.1784T>C, p.(V595A) inLMOD1is located in a known actin-binding WH2 domain and is carried by all living affected individuals in the family.LMOD1was further assessed in a consecutive series of 98 UK TAAD patients and one further mutation was found, yielding an incidence of ∼2% in our study group. Assessment ofLMOD1in international TAAD cohorts discovered nine other missense variants of which three were classed as likely pathogenic.Validation ofLMOD1was undertaken using a zebrafish animal model. Knock-down of bothlmod1aandlmod1bparalogs using morpholino oligonucleotides showed a reproducible abnormal phenotype involving the aortic arches under off-target controls. Injection of the humanLMOD1c.1784T>C, p.(V595A) mutation demonstrated a likely dominant negative effect and illustrated a loss of function cause.Mutations found in the WH2 actin-binding domain ofLMOD1may delay actin polymerization and therefore compromise actin length, dynamics and interaction with myosin in the smooth muscle contraction pathway.
Distinct C4Sub-Types and C3Bundle Sheath Isolation In The Paniceae Grasses
Authors: Washburn Jacob D. , Strable Josh , Dickinson Patrick , Kothapalli Satya S. , Brose Julia M. , Covshoff Sarah , Conant Gavin C. , Hibberd Julian M. , Pires J. Chris 
Published: July 2017

AbstractIn C4plants, the enzymatic machinery underpinning photosynthesis can vary, with, for example, three distinct C4acid decarboxylases being used to release CO2in the vicinity of RuBisCO. For decades, these decarboxylases have been used to classify C4species into three biochemical sub-types. However, more recently the notion that C4species mix and match C4acid decarboxylases has increased in popularity and, as a consequence, the validity of specific biochemical sub-types has been questioned. Using five species from the grass tribe Paniceae, we show that, while in some species transcripts encoding multiple C4acid decarboxylases accumulate, in others, transcript abundance and enzyme activity is almost entirely from one decarboxylase. In addition, the development of a bundle sheath isolation procedure for a close C3species in the Paniceae enables the preliminary exploration of C4sub-type evolution.
Soluble Syntaxin 3 Functions as a Transcription Regulator
Authors: Giovannone Adrian J. , Winterstein Christine , Bhattaram Pallavi , Reales Elena , Low Seng Hui , Baggs Julie E. , Xu Mimi , Lalli Matthew A. , Hogenesch John B. , Weimbs Thomas 
Published: July 2017

SUMMARYSyntaxins - a conserved family of SNARE proteins - contain C-terminal transmembrane anchors required for their membrane fusion activity. Here we show that syntaxin 3 (Stx3) unexpectedly also functions as a nuclear regulator of gene expression. Alternative splicing leads to a soluble isoform, termed Stx3S, lacking the transmembrane anchor. Soluble Stx3S binds to the nuclear import factor RanBP5, targets to the nucleus and interacts physically and functionally with several transcription factors, including ETV4 and ATF2. Stx3S is differentially expressed in normal human tissues, during epithelial cell polarization, and in breast cancer vs. normal breast tissue. Inhibition of endogenous Stx3S expression leads to changes in the expression of cancer-associated genes and promotes cell proliferation. Similar nuclear-targeted, soluble forms of other syntaxins were identified suggesting that nuclear signaling is a conserved, novel function common among these membrane trafficking proteins.
The path to re-evolve cooperation is constrained inPseudomonas aeruginosa
Authors: Granato Elisa T. , Kümmerli Rolf 
Published: July 2017

ABSTRACTBackgroundA common form of cooperation in bacteria is based on the secretion of beneficial metabolites, shareable as public good among cells at the group level. Because cooperation can be exploited by “cheat” mutants, which contribute less or nothing to the public good, there has been great interest in understanding the conditions required for cooperation to remain evolutionarily stable. In contrast, much less is known about whether cheats, once fixed in the population, are able to revert back to cooperation when conditions change. Here, we tackle this question by subjecting experimentally evolved cheats ofPseudomonas aeruginosa, partly deficient for the production of the iron-scavenging public good pyoverdine, to conditions previously shown to favor cooperation.ResultsFollowing approximately 200 generations of experimental evolution, we screened 720 evolved clones for changes in their pyoverdine production levels. We found no evidence for the re-evolution of full cooperation, even in environments with increased spatial structure, and reduced costs of cooperation – two conditions that have previously been shown to maintain cooperation. In contrast, we observed selection for complete abolishment of pyoverdine production. The patterns of complete trait degradation were likely driven by “cheating on cheats” in unstructured, iron-limited environments where pyoverdine is important for growth, and selection against a maladaptive trait in iron-rich environments where pyoverdine is superfluous.ConclusionsOur study shows that the path to re-evolve cooperation seems constrained. One reason might be that the number of mutational targets potentially leading to reversion is limited. Alternatively, it could be that the selective conditions required for revertants to spread from rare are much more stringent than those needed to maintain cooperation.
Non-cell autonomous OTX2 homeoprotein regulates visual cortex plasticity through Gadd45b/g
Authors: Apulei Jessica , Kim Namsuk , Testa Damien , Ribot Jérôme , Morizet David , Bernard Clémence , Jourdren Laurent , Blugeon Corinne , Di Nardo Ariel A. , Prochiantz Alain 
Published: July 2017

AbstractThe non-cell autonomous transfer of OTX2 homeoprotein transcription factor into juvenile mouse cerebral cortex regulates parvalbumin interneuron maturation and critical period timing. By analyzing gene expression in primary visual cortex of wild-type andOtx2+/GFPmice at plastic and non-plastic ages, we identified several putative genes implicated in Otx2-dependent visual cortex plasticity for ocular dominance. Cortical OTX2 infusion in juvenile mice inducedGadd45b/gexpression through direct regulation of transcription. Intriguingly, a reverse effect was found in the adult, where reducing cortical OTX2 resulted inGadd45b/gup-regulation. Viral expression ofGadd45bin adult visual cortex directly induced ocular dominance plasticity with concomitant changes in MeCP2 foci within parvalbumin interneurons and in methylation states of several plasticity gene promoters, suggesting epigenetic regulation. This interaction provides a molecular mechanism for OTX2 to trigger critical period plasticity yet suppress adult plasticity.
Duplex Proximity Sequencing (Pro-Seq): A method to improve DNA sequencing accuracy without the cost of molecular barcoding redundancy
Authors: Pel Joel , Choi Wendy W. Y. , Leung Amy O. , Shibahara Gosuke , Gelinas Laura , Despotovic Milenko , Ung W. Lloyd , Marziali Andre 
Published: July 2017

AbstractA challenge in the clinical adoption of cell-free DNA (cfDNA) liquid biopsies for cancer care is their high cost compared to potential reimbursement. The most common approach used in liquid biopsies to achieve high specificity detection of circulating tumor DNA (ctDNA) among a large background of normal cfDNA is to attach molecular barcodes to each DNA template, amplify it, and then sequence it many times to reach a low-error consensus. In applications where the highest possible specificity is required, error rate can be lowered further by independently detecting the sequences of both strands of the starting cfDNA. While effective in error reduction, the additional sequencing redundancy required by such barcoding methods can increase the cost of sequencing up to 100-fold over standard next-generation sequencing (NGS) of equivalent depth.We present a novel library construction and analysis method for NGS that achieves comparable performance to the best barcoding methods, but without the increase in sequencing and subsequent sequencing cost. Named Proximity-Sequencing (Pro-Seq), the method merges multiple copies of each template into a single sequencing read by physically linking the molecular copies so they seed a single sequencing cluster. Since multiple DNA copies of the same template are compared for consensus within the same cluster, sequencing accuracy is improved without the use of redundant reads. Additionally, it is possible to represent both senses of the starting duplex in a single cluster. The resulting workflow is simple, and can be completed by a single technician in a work day with minimal hands on time.Using both cfDNA and cell line DNA, we report the average per-mutation detection threshold and per-base analytical specificity to be 0.003% and >99.9997% respectively, demonstrating that Pro-Seq is among the highest performing liquid biopsy technologies in terms of both sensitivity and specificity, but with greatly reduced sequencing costs compared to existing methods of comparable accuracy.
HAM-TBS: High accuracy methylation measurements via targeted bisulfite sequencing
Authors: Röh Simone , Wiechmann Tobias , Sauer Susann , Ködel Maik , Binder Elisabeth B. , Provençal Nadine 
Published: July 2017

AbstractBackgroundThe ability to accurately and efficiently measure DNA methylation is vital to advance the understanding of this mechanism and its contribution to common diseases. Here, we present a highly accurate method to measure methylation using bisulfite sequencing (termed HAM-TBS). This novel method is able to assess DNA methylation in multiple samples with high accuracy in a cost-effective manner. We developed this assay for theFKBP5locus, an important gene in the regulation of the stress system and previously linked to stress-related disorders, but the method is applicable to any locus of interest.ResultsHAM-TBS enables multiplexing of up to 96 samples spanning a region of ~10 kb using the llumina MiSeq. It incorporates a triplicate bisulfite conversion step, pooled target enrichment via PCR, PCR-free library preparation and a minimum coverage of 1,000x. Furthermore, we designed and validated a targeted panel to specifically assess regulatory regions within theFKBP5locus including the transcription start site, topologically associated domain boundaries, intergenic and proximal enhancers as well as glucocorticoid receptor and CTCF binding sites that are not covered in commercially available DNA methylation arrays.ConclusionsHAM-TBS represents a highly accurate, medium-throughput sequencing approach for robust detection of DNA methylation changes in specific target regions.
Specification of the germline by Nanos-dependent down-regulation of the somatic synMuvB transcription factor LIN-15B
Authors: Lee Chih-Yung S. , Lu Tu , Seydoux Geraldine 
Published: July 2017

AbstractThe Nanos RNA-binding protein has been implicated in the specification of primordial germ cells (PGCs) in metazoans, but the underlying mechanisms remain poorly understood. We have profiled the transcriptome of PGCs lacking thenanoshomologuesnos-1andnos-2iC. elegans.nos-1nos-2PGCs fail to silence hundreds of genes normally expressed in oocytes and somatic cells, a phenotype reminiscent of PGCs lacking the repressive PRC2 complex. Thenos-1nos-2phenotype depends on LIN-15B, a broadly expressed synMuvB class transcription factor known to antagonize PRC2 activity in somatic cells. LIN-15B is maternally-inherited by all embryonic cells and is down-regulated specifically in PGCs in anos-1nos-2-dependent manner. Consistent with LIN-15B being a critical target of Nanos regulation, inactivation of maternal LIN-15B restores fertility tonos-1nos-2mutants. These studies demonstrate a central role for Nanos in reprogramming the transcriptome of PGCs away from an oocyte/somatic fate by down-regulating an antagonist of PRC2 activity.
Customer experience design: a case study in the cultural sector
Authors: Ponsignon Frederic , Durrieu Francois , Bouzdine-Chameeva Tatiana 
Published: July 2017

PurposeThe purpose of this paper is to explore the experience design phenomenon in the cultural sector. Specifically, it purports to articulate a set of design characteristics that support the alignment between an organisation’s design intention (i.e. intended experience) and the actual experience of customers (i.e. realised experience).Design/methodology/approachA single case study approach is adopted to explore the phenomenon from both the provider and customer perspectives simultaneously. A range of qualitative data, including 42 interviews with managers and customers as well as voluminous documentary evidence, are collected. Provider and customer data are analysed independently using a rigorous inductive analytical process to generate experience design themes and to assess possible gaps between intended and realised experience.FindingsThe findings reveal the design characteristics of touchpoints and the overall customer journey, which constitute the core experience, as well as the design characteristics of the physical and social environment, which support the realisation of the core experience, in a cultural context.Research limitations/implicationsLimitations include difficulties in generalising the findings from a single case and in claiming that the set of design characteristics identified is exhaustive.Practical implicationsThe paper makes several recommendations that are useful and relevant for customer experience practitioners in the cultural sector.Originality/valueThe paper’s contribution is to provide novel empirical insights into the four experience design areas of touchpoints, journey, physical elements and social elements in an experience-centric cultural context. On that basis, a conceptual framework for experience design in the cultural context is proposed.
Investigating the fire performance of LSF wall systems using finite element analyses
Authors: Rusthi Mohamed , Keerthan Poologanathan , Mahendran Mahen , Ariyanayagam Anthony 
Published: July 2017

PurposeThis research was aimed at investigating the fire performance of LSF wall systems by using 3-D heat transfer FE models of existing LSF wall system configurations.Design/methodology/approachThis research was focused on investigating the fire performance of LSF wall systems by using 3-D heat transfer finite element models of existing LSF wall system configurations. The analysis results were validated by using the available fire test results of five different LSF wall configurations.FindingsThe validated finite element models were used to conduct a parametric study on a range of non-load bearing and load bearing LSF wall configurations to predict their fire resistance levels (FRLs) for varying load ratios.Originality/valueFire performance of LSF wall systems with different configurations can be understood by performing full-scale fire tests. However, these full-scale fire tests are time consuming, labour intensive and expensive. On the other hand, finite element analysis (FEA) provides a simple method of investigating the fire performance of LSF wall systems to understand their thermal-mechanical behaviour. Recent numerical research studies have focused on investigating the fire performances of LSF wall systems by using finite element (FE) models. Most of these FE models were developed based on 2-D FE platform capable of performing either heat transfer or structural analysis separately. Therefore, this paper presents the details of a 3-D FEA methodology to develop the capabilities to perform fully-coupled thermal-mechanical analyses of LSF walls exposed to fire in future.
Antecedents of transition patterns of depressive symptom trajectories from adolescence to young adulthood
Authors: Lee Tae Kyoung , Wickrama Kandauda A. S. , Kwon Josephine A. , Lorenz Frederick O. , Oshri Assaf 
Published: July 2017

This study examined (a) transition patterns from adolescent‐specific depressive symptom trajectory classes to young adult‐specific trajectory classes (N = 537; 15–26 years) and (b) identified risk factors associated with these transition patterns. The latent classes and transition analyses identified three transitional patterns of depressive symptom trajectories, including a deteriorating pattern (8.2%), a recovering pattern (22.5%), and a consistently low pattern (69.3%). Additionally, the results showed that contextual risk factors (i.e., negative economic events, negative romantic relationships, and low college enrolment rates) in the transition period to young adulthood were more positively associated with deteriorated or recovered transition patterns of depressive symptom trajectories than with the consistently low transition patterns even after taking into account the effects of adolescent risk factors. The identification of dynamic transition patterns in depressive symptom trajectories from adolescence to young adulthood and risk factors provide useful tools for preventive and intervention efforts.
Statement of contribution

What is already known on this subject?

Heterogeneous trajectories of depressive symptoms across adolescence and young adulthood have been reported.

Psychosocial characteristics differentiate trajectories of depressive symptoms from adolescence to young adulthood.

What does this study add?

Dynamic transition patterns of depressive symptom trajectories are found between adolescence and young adulthood.

Life experiences in the transition period are uniquely associated with the transition patterns of depressive symptom trajectories even after adjusting the effects of adolescent characteristics.
Sleep disorders in patients with erectile dysfunction
Authors: Kalejaiye Odunayo , Raheem Amr Abdel , Moubasher Amr , Capece Marco , McNeillis Sara , Muneer Asif , Christopher Andrew N. , Garaffa Giulio , Ralph David J. 
Published: July 2017

ObjectiveTo assess the prevalence of obstructive sleep apnoea (OSA) in men presenting with erectile dysfunction (ED) at a single centre.Patients and MethodsAll men attending a specialised andrology outpatient department with a new diagnosis of ED were included in this prospective study. All patients completed three questionnaires: the International Index of Erectile Function (IIEF) and two sleep questionnaires [the Obstructive Sleep Apnoea Screening questionnaire and the Insomnia Severity Index (ISI)]. Their ED management was subsequently undertaken in accordance with local and European guidelines. An OSA diagnosis was made based on a score of ≥3 on the Obstructive Sleep Apnoea Screening questionnaire and those patients were referred for specialist management.ResultsBetween February and September 2016, 129 patients with ED completed the study questionnaires. In all, 71 patients (55%) had a score of ≥3 on the Obstructive Sleep Apnoea Screening questionnaire, indicating a need for specialist sleep referral. Men who scored ≥3 on the Obstructive Sleep Apnoea Screening questionnaire were significantly older (61.4 vs 46.5 years; P < 0.001) and had a significantly higher body mass index (29.4 vs 26.7 kg/m2; P < 0.001) when compared to the control group (OSA score of <3). The sleep apnoea group (OSA score of ≥3) had significantly worse IIEF‐ED scores (6.2 vs 9.1; P = 0.018) and ISI scores (7.9 vs 5.5; P = 0.061).ConclusionMen presenting to the andrology clinic with ED are at significant risk of having undiagnosed sleep disorders. This has serious adverse health consequences, as well as being associated with potential dangers at work and travel. The patient compliance was high with 78% completing all three questionnaires. It is feasible to screen this population for sleep disturbance and this should be part of the ED assessment.