@article{740, abstract = {Developments in bioengineering and molecular biology have introduced a palette of genetically encoded probes for identification of specific cell populations in electron microscopy. These probes can be targeted to distinct cellular compartments, rendering them electron dense through a subsequent chemical reaction. These electron densities strongly increase the local contrast in samples prepared for electron microscopy, allowing three major advances in ultrastructural mapping of circuits: genetic identification of circuit components, targeted imaging of regions of interest and automated analysis of the tagged circuits. Together, the gains from these advances can decrease the time required for the analysis of targeted circuit motifs by over two orders of magnitude. These genetic encoded tags for electron microscopy promise to simplify the analysis of circuit motifs and become a central tool for structure‐function studies of synaptic connections in the brain. We review the current state‐of‐the‐art with an emphasis on connectomics, the quantitative analysis of neuronal structures and motifs.}, author = {Shigemoto, Ryuichi and Jösch, Maximilian A}, issn = {17597684}, journal = {WIREs Developmental Biology}, number = {6}, publisher = {Wiley-Blackwell}, title = {{The genetic encoded toolbox for electron microscopy and connectomics}}, doi = {10.1002/wdev.288}, volume = {6}, year = {2017}, } @article{741, abstract = {We prove that a system of N fermions interacting with an additional particle via point interactions is stable if the ratio of the mass of the additional particle to the one of the fermions is larger than some critical m*. The value of m* is independent of N and turns out to be less than 1. This fact has important implications for the stability of the unitary Fermi gas. We also characterize the domain of the Hamiltonian of this model, and establish the validity of the Tan relations for all wave functions in the domain.}, author = {Moser, Thomas and Seiringer, Robert}, issn = {00103616}, journal = {Communications in Mathematical Physics}, number = {1}, pages = {329 -- 355}, publisher = {Springer}, title = {{Stability of a fermionic N+1 particle system with point interactions}}, doi = {10.1007/s00220-017-2980-0}, volume = {356}, year = {2017}, } @article{743, abstract = {This special issue of the Journal on Formal Methods in System Design is dedicated to Prof. Helmut Veith, who unexpectedly passed away in March 2016. Helmut Veith was a brilliant researcher, inspiring collaborator, passionate mentor, generous friend, and valued member of the formal methods community. Helmut was not only known for his numerous and influential contributions in the field of automated verification (most prominently his work on Counterexample-Guided Abstraction Refinement [1,2]), but also for his untiring and passionate efforts for the logic community: he co-organized the Vienna Summer of Logic (an event comprising twelve conferences and numerous workshops which attracted thousands of researchers from all over the world), he initiated the Vienna Center for Logic and Algorithms (which promotes international collaboration on logic and algorithms and organizes outreach events such as the LogicLounge), and he coordinated the Doctoral Program on Logical Methods in Computer Science at TU Wien (currently educating more than 40 doctoral students) and a National Research Network on Rigorous Systems Engineering (uniting fifteen researchers in Austria to address the challenge of building reliable and safe computer systems). With his enthusiasm and commitment, Helmut completely reshaped the Austrian research landscape in the field of logic and verification in his few years as a full professor at TU Wien.}, author = {Gottlob, Georg and Henzinger, Thomas A and Weißenbacher, Georg}, journal = {Formal Methods in System Design}, number = {2}, pages = {267 -- 269}, publisher = {Springer}, title = {{Preface of the special issue in memoriam Helmut Veith}}, doi = {10.1007/s10703-017-0307-6}, volume = {51}, year = {2017}, } @article{744, abstract = {In evolutionary game theory interactions between individuals are often assumed obligatory. However, in many real-life situations, individuals can decide to opt out of an interaction depending on the information they have about the opponent. We consider a simple evolutionary game theoretic model to study such a scenario, where at each encounter between two individuals the type of the opponent (cooperator/defector) is known with some probability, and where each individual either accepts or opts out of the interaction. If the type of the opponent is unknown, a trustful individual accepts the interaction, whereas a suspicious individual opts out of the interaction. If either of the two individuals opt out both individuals remain without an interaction. We show that in the prisoners dilemma optional interactions along with suspicious behaviour facilitates the emergence of trustful cooperation.}, author = {Priklopil, Tadeas and Chatterjee, Krishnendu and Nowak, Martin}, issn = {00225193}, journal = { Journal of Theoretical Biology}, pages = {64 -- 72}, publisher = {Elsevier}, title = {{Optional interactions and suspicious behaviour facilitates trustful cooperation in prisoners dilemma}}, doi = {10.1016/j.jtbi.2017.08.025}, volume = {433}, year = {2017}, } @article{745, abstract = {Fluid flows in nature and applications are frequently subject to periodic velocity modulations. Surprisingly, even for the generic case of flow through a straight pipe, there is little consensus regarding the influence of pulsation on the transition threshold to turbulence: while most studies predict a monotonically increasing threshold with pulsation frequency (i.e. Womersley number, ), others observe a decreasing threshold for identical parameters and only observe an increasing threshold at low . In the present study we apply recent advances in the understanding of transition in steady shear flows to pulsating pipe flow. For moderate pulsation amplitudes we find that the first instability encountered is subcritical (i.e. requiring finite amplitude disturbances) and gives rise to localized patches of turbulence ('puffs') analogous to steady pipe flow. By monitoring the impact of pulsation on the lifetime of turbulence we map the onset of turbulence in parameter space. Transition in pulsatile flow can be separated into three regimes. At small Womersley numbers the dynamics is dominated by the decay turbulence suffers during the slower part of the cycle and hence transition is delayed significantly. As shown in this regime thresholds closely agree with estimates based on a quasi-steady flow assumption only taking puff decay rates into account. The transition point predicted in the zero limit equals to the critical point for steady pipe flow offset by the oscillation Reynolds number (i.e. the dimensionless oscillation amplitude). In the high frequency limit on the other hand, puff lifetimes are identical to those in steady pipe flow and hence the transition threshold appears to be unaffected by flow pulsation. In the intermediate frequency regime the transition threshold sharply drops (with increasing ) from the decay dominated (quasi-steady) threshold to the steady pipe flow level.}, author = {Xu, Duo and Warnecke, Sascha and Song, Baofang and Ma, Xingyu and Hof, Björn}, issn = {00221120}, journal = {Journal of Fluid Mechanics}, pages = {418 -- 432}, publisher = {Cambridge University Press}, title = {{Transition to turbulence in pulsating pipe flow}}, doi = {10.1017/jfm.2017.620}, volume = {831}, year = {2017}, } @article{746, abstract = {Metabotropic glutamate receptor subtype 5 (mGluR5) is crucially implicated in the pathophysiology of Fragile X Syndrome (FXS); however, its dysfunction at the sub-cellular level, and related synaptic and cognitive phenotypes are unexplored. Here, we probed the consequences of mGluR5/Homer scaffold disruption for mGluR5 cell-surface mobility, synaptic N-methyl-D-Aspartate receptor (NMDAR) function, and behavioral phenotypes in the second-generation Fmr1 knockout (KO) mouse. Using single-molecule tracking, we found that mGluR5 was significantly more mobile at synapses in hippocampal Fmr1 KO neurons, causing an increased synaptic surface co-clustering of mGluR5 and NMDAR. This correlated with a reduced amplitude of synaptic NMDAR currents, a lack of their mGluR5-Activated long-Term depression, and NMDAR/hippocampus dependent cognitive deficits. These synaptic and behavioral phenomena were reversed by knocking down Homer1a in Fmr1 KO mice. Our study provides a mechanistic link between changes of mGluR5 dynamics and pathological phenotypes of FXS, unveiling novel targets for mGluR5-based therapeutics.}, author = {Aloisi, Elisabetta and Le Corf, Katy and Dupuis, Julien and Zhang, Pei and Ginger, Melanie and Labrousse, Virginie and Spatuzza, Michela and Georg Haberl, Matthias and Costa, Lara and Shigemoto, Ryuichi and Tappe Theodor, Anke and Drago, Fillippo and Vincenzo Piazza, Pier and Mulle, Christophe and Groc, Laurent and Ciranna, Lucia and Catania, Maria and Frick, Andreas}, issn = {20411723}, journal = {Nature Communications}, number = {1}, publisher = {Nature Publishing Group}, title = {{Altered surface mGluR5 dynamics provoke synaptic NMDAR dysfunction and cognitive defects in Fmr1 knockout mice}}, doi = {10.1038/s41467-017-01191-2}, volume = {8}, year = {2017}, } @article{747, abstract = {Bradykinin (BK), a component of the kallikrein-kininogen-kinin system exerts multiple effects via B1 and B2 receptor activation. In the cardiovascular system, bradykinin has cardioprotective and vasodilator properties. We investigated the effect of BK on cardiac-projecting neurons of nucleus ambiguus, a key site for the parasympathetic cardiac regulation. BK produced a dose-dependent increase in cytosolic Ca2+ concentration. Pretreatment with HOE140, a B2 receptor antagonist, but not with R715, a B1 receptor antagonist, abolished the response to BK. A selective B2 receptor agonist, but not a B1 receptor agonist, elicited an increase in cytosolic Ca2+ similarly to BK. Inhibition of N-type voltage-gated Ca2+ channels with ω-conotoxin GVIA had no effect on the Ca2+ signal produced by BK, while pretreatment with ω-conotoxin MVIIC, a blocker of P/Q-type of Ca2+ channels, significantly diminished the effect of BK. Pretreatment with xestospongin C and 2-aminoethoxydiphenyl borate, antagonists of inositol 1,4,5-trisphosphate receptors, abolished the response to BK. Inhibition of ryanodine receptors reduced the BK-induced Ca2+ increase, while disruption of lysosomal Ca2+ stores with bafilomycin A1 did not affect the response. BK produced a dose-dependent depolarization of nucleus ambiguus neurons, which was prevented by the B2 receptor antagonist. In vivo studies indicate that microinjection of BK into nucleus ambiguus elicited bradycardia in conscious rats via B2 receptors. In summary, in cardiac vagal neurons of nucleus ambiguus, BK activates B2 receptors promoting Ca2+ influx and Ca2+ release from endoplasmic reticulum, and membrane depolarization; these effects are translated in vivo by bradycardia.}, author = {Brǎiloiu, Eugen and Mcguire, Matthew and Shuler, Shadaria and Deliu, Elena and Barr, Jeffrey and Abood, Mary and Brailoiu, Gabriela}, issn = {03064522}, journal = {Neuroscience}, pages = {23 -- 32}, publisher = {Elsevier}, title = {{Modulation of cardiac vagal tone by bradykinin acting on nucleus ambiguus}}, doi = {10.1016/j.neuroscience.2017.09.034}, volume = {365}, year = {2017}, } @inbook{748, abstract = {The essay focuses on individual and collective forms of liminality in John Marlyn’s Under the Ribs of Death. Set in early twentieth-century Winnipeg, the 1957 immigrant novel explores liminal experiences related to ethnic identity, male sexuality, social class, urban spaces and turbulent economic times. As the son of a poor working-class family from Hungary, Sandor Hunyadi makes every effort to become a true Canadian and a successful businessman, but, no matter how hard he tries to overcome contemporary ethnic prejudices and economic hardships, his personal and professional life remains in liminality. In other words, the protagonist undergoes separation, fails at incorporation, and becomes stuck in transition.}, author = {Bernhard Wenzl}, booktitle = {In-Between - Liminal Spaces in Canadian Literature and Culture}, editor = {Brandt, Stefan L.}, pages = {91 -- 100}, publisher = {Peter Lang GmbH}, title = {{'...beyond the invisible barrier at Portage and Main': Liminality in John Marlyn's Under the Ribs of Death}}, doi = {10.3726/b11899}, year = {2017}, } @article{749, abstract = {Synaptotagmin 7 (Syt7) is thought to be a Ca2+ sensor that mediates asynchronous transmitter release and facilitation at synapses. However, Syt7 is strongly expressed in fast-spiking, parvalbumin-expressing GABAergic interneurons, and the output synapses of these neurons produce only minimal asynchronous release and show depression rather than facilitation. To resolve this apparent contradiction, we examined the effects of genetic elimination of Syt7 on synaptic transmission at the GABAergic basket cell (BC)-Purkinje cell (PC) synapse in cerebellum. Our results indicate that at the BC-PC synapse, Syt7 contributes to asynchronous release, pool replenishment, and facilitation. In combination, these three effects ensure efficient transmitter release during high-frequency activity and guarantee frequency independence of inhibition. Our results identify a distinct function of Syt7: ensuring the efficiency of high-frequency inhibitory synaptic transmission}, author = {Chen, Chong and Satterfield, Rachel and Young, Samuel and Jonas, Peter M}, issn = {22111247}, journal = {Cell Reports}, number = {8}, pages = {2082 -- 2089}, publisher = {Cell Press}, title = {{Triple function of Synaptotagmin 7 ensures efficiency of high-frequency transmission at central GABAergic synapses}}, doi = {10.1016/j.celrep.2017.10.122}, volume = {21}, year = {2017}, } @inproceedings{750, abstract = {Modern communication technologies allow first responders to contact thousands of potential volunteers simultaneously for support during a crisis or disaster event. However, such volunteer efforts must be well coordinated and monitored, in order to offer an effective relief to the professionals. In this paper we extend earlier work on optimally assigning volunteers to selected landmark locations. In particular, we emphasize the aspect that obtaining good assignments requires not only advanced computational tools, but also a realistic measure of distance between volunteers and landmarks. Specifically, we propose the use of the Open Street Map (OSM) driving distance instead of he previously used flight distance. We find the OSM driving distance to be better aligned with the interests of volunteers and first responders. Furthermore, we show that relying on the flying distance leads to a substantial underestimation of the number of required volunteers, causing negative side effects in case of an actual crisis situation.}, author = {Pielorz, Jasmin and Prandtstetter, Matthias and Straub, Markus and Lampert, Christoph}, booktitle = {2017 IEEE International Conference on Big Data}, isbn = {978-153862714-3}, location = {Boston, MA, United States}, pages = {3760 -- 3763}, publisher = {IEEE}, title = {{Optimal geospatial volunteer allocation needs realistic distances}}, doi = {10.1109/BigData.2017.8258375}, year = {2017}, } @article{751, abstract = {The basement membrane (BM) is a thin layer of extracellular matrix (ECM) beneath nearly all epithelial cell types that is critical for cellular and tissue function. It is composed of numerous components conserved among all bilaterians [1]; however, it is unknown how all of these components are generated and subsequently constructed to form a fully mature BM in the living animal. Although BM formation is thought to simply involve a process of self-assembly [2], this concept suffers from a number of logistical issues when considering its construction in vivo. First, incorporation of BM components appears to be hierarchical [3-5], yet it is unclear whether their production during embryogenesis must also be regulated in a temporal fashion. Second, many BM proteins are produced not only by the cells residing on the BM but also by surrounding cell types [6-9], and it is unclear how large, possibly insoluble protein complexes [10] are delivered into the matrix. Here we exploit our ability to live image and genetically dissect de novo BM formation during Drosophila development. This reveals that there is a temporal hierarchy of BM protein production that is essential for proper component incorporation. Furthermore, we show that BM components require secretion by migrating macrophages (hemocytes) during their developmental dispersal, which is critical for embryogenesis. Indeed, hemocyte migration is essential to deliver a subset of ECM components evenly throughout the embryo. This reveals that de novo BM construction requires a combination of both production and distribution logistics allowing for the timely delivery of core components.}, author = {Matsubayashi, Yutaka and Louani, Adam and Dragu, Anca and Sanchez Sanchez, Besaiz and Serna Morales, Eduardo and Yolland, Lawrence and György, Attila and Vizcay, Gema and Fleck, Roland and Heddleston, John and Chew, Teng and Siekhaus, Daria E and Stramer, Brian}, issn = {09609822}, journal = {Current Biology}, number = {22}, pages = {3526 -- 3534e.4}, publisher = {Cell Press}, title = {{A moving source of matrix components is essential for De Novo basement membrane formation}}, doi = {10.1016/j.cub.2017.10.001}, volume = {27}, year = {2017}, } @article{7725, abstract = {Phenotypic plasticity is the ability of an individual genotype to alter aspects of its phenotype depending on the current environment. It is central to the persistence, resistance and resilience of populations facing variation in physical or biological factors. Genetic variation in plasticity is pervasive, which suggests its local adaptation is plausible. Existing studies on the adaptation of plasticity typically focus on single traits and a few populations, while theory about interactions among genes (for example, pleiotropy) suggests that a multi-trait, landscape scale (for example, multiple populations) perspective is required. We present data from a landscape scale, replicated, multi-trait experiment using a classic predator–prey system centred on the water flea Daphnia pulex. We find predator regime-driven differences in genetic variation of multivariate plasticity. These differences are associated with strong divergent selection linked to a predation regime. Our findings are evidence for local adaptation of plasticity, suggesting that responses of populations to environmental variation depend on the conditions in which they evolved in the past.}, author = {Reger, Julia and Lind, Martin I. and Robinson, Matthew Richard and Beckerman, Andrew P.}, issn = {2397-334X}, journal = {Nature Ecology & Evolution}, pages = {100--107}, publisher = {Springer Nature}, title = {{Predation drives local adaptation of phenotypic plasticity}}, doi = {10.1038/s41559-017-0373-6}, volume = {2}, year = {2017}, } @article{7727, abstract = {Genes of the major histocompatibility complex (MHC) have been shown to influence social signalling and mate preferences in many species, including humans. First observations suggest that MHC signalling may also affect female fertility. To test this hypothesis, we exposed 191 female horses (Equus caballus) to either an MHC-similar or an MHC-dissimilar stimulus male around the time of ovulation and conception. A within-subject experimental design controlled for non-MHC-linked male characteristics, and instrumental insemination with semen of other males (n = 106) controlled for potential confounding effects of semen or embryo characteristics. We found that females were more likely to become pregnant if exposed to an MHC-dissimilar than to an MHC-similar male, while overall genetic distance to the stimulus males (based on microsatellite markers on 20 chromosomes) had no effect. Our results demonstrate that early pregnancy failures can be due to maternal life-history decisions (cryptic female choice) influenced by MHC-linked social signalling.}, author = {Burger, D. and Thomas, S. and Aepli, H. and Dreyer, M. and Fabre, G. and Marti, E. and Sieme, H. and Robinson, Matthew Richard and Wedekind, C.}, issn = {0962-8452}, journal = {Proceedings of the Royal Society B: Biological Sciences}, number = {1868}, publisher = {The Royal Society}, title = {{Major histocompatibility complex-linked social signalling affects female fertility}}, doi = {10.1098/rspb.2017.1824}, volume = {284}, year = {2017}, } @article{7728, abstract = {Meta-analyses of genome-wide association studies, which dominate genetic discovery, are based on data from diverse historical time periods and populations. Genetic scores derived from genome-wide association studies explain only a fraction of the heritability estimates obtained from whole-genome studies on single populations, known as the ‘hidden heritability’ puzzle. Using seven sampling populations (n = 35,062), we test whether hidden heritability is attributed to heterogeneity across sampling populations and time, showing that estimates are substantially smaller across populations compared with within populations. We show that the hidden heritability varies substantially: from zero for height to 20% for body mass index, 37% for education, 40% for age at first birth and up to 75% for number of children. Simulations demonstrate that our results are more likely to reflect heterogeneity in phenotypic measurement or gene–environment interactions than genetic heterogeneity. These findings have substantial implications for genetic discovery, suggesting that large homogenous datasets are required for behavioural phenotypes and that gene–environment interaction may be a central challenge for genetic discovery.}, author = {Tropf, Felix C. and Lee, S. Hong and Verweij, Renske M. and Stulp, Gert and van der Most, Peter J. and de Vlaming, Ronald and Bakshi, Andrew and Briley, Daniel A. and Rahal, Charles and Hellpap, Robert and Iliadou, Anastasia N. and Esko, Tõnu and Metspalu, Andres and Medland, Sarah E. and Martin, Nicholas G. and Barban, Nicola and Snieder, Harold and Robinson, Matthew Richard and Mills, Melinda C.}, issn = {2397-3374}, journal = {Nature Human Behaviour}, number = {10}, pages = {757--765}, publisher = {Springer Nature}, title = {{Hidden heritability due to heterogeneity across seven populations}}, doi = {10.1038/s41562-017-0195-1}, volume = {1}, year = {2017}, } @article{7729, abstract = {Quantifying the effects of inbreeding is critical to characterizing the genetic architecture of complex traits. This study highlights through theory and simulations the strengths and shortcomings of three SNP-based inbreeding measures commonly used to estimate inbreeding depression (ID). We demonstrate that heterogeneity in linkage disequilibrium (LD) between causal variants and SNPs biases ID estimates, and we develop an approach to correct this bias using LD and minor allele frequency stratified inference (LDMS). We quantified ID in 25 traits measured in ∼140,000 participants of the UK Biobank, using LDMS, and confirmed previously published ID for 4 traits. We find unique evidence of ID for handgrip strength, waist/hip ratio, and visual and auditory acuity (ID between −2.3 and −5.2 phenotypic SDs for complete inbreeding; P<0.001). Our results illustrate that a careful choice of the measure of inbreeding combined with LDMS stratification improves both detection and quantification of ID using SNP data.}, author = {Yengo, Loic and Zhu, Zhihong and Wray, Naomi R. and Weir, Bruce S. and Yang, Jian and Robinson, Matthew Richard and Visscher, Peter M.}, issn = {0027-8424}, journal = {Proceedings of the National Academy of Sciences}, number = {32}, pages = {8602--8607}, publisher = {Proceedings of the National Academy of Sciences}, title = {{Detection and quantification of inbreeding depression for complex traits from SNP data}}, doi = {10.1073/pnas.1621096114}, volume = {114}, year = {2017}, } @article{7731, abstract = {Genetic association studies in admixed populations are underrepresented in the genomics literature, with a key concern for researchers being the adequate control of spurious associations due to population structure. Linear mixed models (LMMs) are well suited for genome-wide association studies (GWAS) because they account for both population stratification and cryptic relatedness and achieve increased statistical power by jointly modeling all genotyped markers. Additionally, Bayesian LMMs allow for more flexible assumptions about the underlying distribution of genetic effects, and can concurrently estimate the proportion of phenotypic variance explained by genetic markers. Using three recently published Bayesian LMMs, Bayes R, BSLMM, and BOLT-LMM, we investigate an existing data set on eye (n = 625) and skin (n = 684) color from Cape Verde, an island nation off West Africa that is home to individuals with a broad range of phenotypic values for eye and skin color due to the mix of West African and European ancestry. We use simulations to demonstrate the utility of Bayesian LMMs for mapping loci and studying the genetic architecture of quantitative traits in admixed populations. The Bayesian LMMs provide evidence for two new pigmentation loci: one for eye color (AHRR) and one for skin color (DDB1).}, author = {Lloyd-Jones, Luke R. and Robinson, Matthew Richard and Moser, Gerhard and Zeng, Jian and Beleza, Sandra and Barsh, Gregory S. and Tang, Hua and Visscher, Peter M.}, issn = {0016-6731}, journal = {Genetics}, number = {2}, pages = {1113--1126}, publisher = {Genetics Society of America}, title = {{Inference on the genetic basis of eye and skin color in an admixed population via Bayesian linear mixed models}}, doi = {10.1534/genetics.116.193383}, volume = {206}, year = {2017}, } @article{7733, abstract = {Sections PDFPDF Tools Share Abstract Background: Gene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis (ALS). One challenge for clinical application of genetic testing is critical evaluation of the significance of reported variants. Methods: We use whole exome sequencing (WES) to develop a clinically relevant approach to identify a subset of ALS patients harboring likely pathogenic mutations. In parallel, we assess if DNA methylation can be used to screen for pathogenicity of novel variants since a methylation signature has been shown to associate with the pathogenic C9orf72 expansion, but has not been explored for other ALS mutations. Australian patients identified with ALS‐relevant variants were cross‐checked with population databases and case reports to critically assess whether they were “likely causal,” “uncertain significance,” or “unlikely causal.” Results: Published ALS variants were identified in >10% of patients; however, in only 3% of patients (4/120) could these be confidently considered pathogenic (in SOD1 and TARDBP). We found no evidence for a differential DNA methylation signature in these mutation carriers. Conclusions: The use of WES in a typical ALS clinic demonstrates a critical approach to variant assessment with the capability to combine cohorts to enhance the largely unknown genetic basis of ALS.}, author = {Garton, Fleur C. and Benyamin, Beben and Zhao, Qiongyi and Liu, Zhijun and Gratten, Jacob and Henders, Anjali K. and Zhang, Zong-Hong and Edson, Janette and Furlong, Sarah and Morgan, Sarah and Heggie, Susan and Thorpe, Kathryn and Pfluger, Casey and Mather, Karen A. and Sachdev, Perminder S. and McRae, Allan F. and Robinson, Matthew Richard and Shah, Sonia and Visscher, Peter M. and Mangelsdorf, Marie and Henderson, Robert D. and Wray, Naomi R. and McCombe, Pamela A.}, issn = {2324-9269}, journal = {Molecular Genetics & Genomic Medicine}, number = {4}, pages = {418--428}, publisher = {Wiley}, title = {{Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort}}, doi = {10.1002/mgg3.302}, volume = {5}, year = {2017}, } @article{7755, abstract = {We give a bird's-eye view of the plastic deformation of crystals aimed at the statistical physics community, as well as a broad introduction to the statistical theories of forced rigid systems aimed at the plasticity community. Memory effects in magnets, spin glasses, charge density waves, and dilute colloidal suspensions are discussed in relation to the onset of plastic yielding in crystals. Dislocation avalanches and complex dislocation tangles are discussed via a brief introduction to the renormalization group and scaling. Analogies to emergent scale invariance in fracture, jamming, coarsening, and a variety of depinning transitions are explored. Dislocation dynamics in crystals challenge nonequilibrium statistical physics. Statistical physics provides both cautionary tales of subtle memory effects in nonequilibrium systems and systematic tools designed to address complex scale-invariant behavior on multiple length scales and timescales.}, author = {Sethna, James P. and Bierbaum, Matthew K. and Dahmen, Karin A. and Goodrich, Carl Peter and Greer, Julia R. and Hayden, Lorien X. and Kent-Dobias, Jaron P. and Lee, Edward D. and Liarte, Danilo B. and Ni, Xiaoyue and Quinn, Katherine N. and Raju, Archishman and Rocklin, D. Zeb and Shekhawat, Ashivni and Zapperi, Stefano}, issn = {1531-7331}, journal = {Annual Review of Materials Research}, pages = {217--246}, publisher = {Annual Reviews}, title = {{Deformation of crystals: Connections with statistical physics}}, doi = {10.1146/annurev-matsci-070115-032036}, volume = {47}, year = {2017}, } @article{7756, abstract = {We study the shear jamming of athermal frictionless soft spheres, and find that in the thermodynamic limit, a shear-jammed state exists with different elastic properties from the isotropically-jammed state. For example, shear-jammed states can have a non-zero residual shear stress in the thermodynamic limit that arises from long-range stress-stress correlations. As a result, the ratio of the shear and bulk moduli, which in isotropically-jammed systems vanishes as the jamming transition is approached from above, instead approaches a constant. Despite these striking differences, we argue that in a deeper sense, the shear jamming and isotropic jamming transitions actually have the same symmetry, and that the differences can be fully understood by rotating the six-dimensional basis of the elastic modulus tensor.}, author = {Baity-Jesi, Marco and Goodrich, Carl Peter and Liu, Andrea J. and Nagel, Sidney R. and Sethna, James P.}, issn = {0022-4715}, journal = {Journal of Statistical Physics}, number = {3-4}, pages = {735--748}, publisher = {Springer Nature}, title = {{Emergent SO(3) symmetry of the frictionless shear jamming transition}}, doi = {10.1007/s10955-016-1703-9}, volume = {167}, year = {2017}, } @article{7757, abstract = {Recent advances in designing metamaterials have demonstrated that global mechanical properties of disordered spring networks can be tuned by selectively modifying only a small subset of bonds. Here, using a computationally efficient approach, we extend this idea to tune more general properties of networks. With nearly complete success, we are able to produce a strain between any two target nodes in a network in response to an applied source strain on any other pair of nodes by removing only ∼1% of the bonds. We are also able to control multiple pairs of target nodes, each with a different individual response, from a single source, and to tune multiple independent source/target responses simultaneously into a network. We have fabricated physical networks in macroscopic 2D and 3D systems that exhibit these responses. This work is inspired by the long-range coupled conformational changes that constitute allosteric function in proteins. The fact that allostery is a common means for regulation in biological molecules suggests that it is a relatively easy property to develop through evolution. In analogy, our results show that long-range coupled mechanical responses are similarly easy to achieve in disordered networks.}, author = {Rocks, Jason W. and Pashine, Nidhi and Bischofberger, Irmgard and Goodrich, Carl Peter and Liu, Andrea J. and Nagel, Sidney R.}, issn = {0027-8424}, journal = {Proceedings of the National Academy of Sciences}, number = {10}, pages = {2520--2525}, publisher = {Proceedings of the National Academy of Sciences}, title = {{Designing allostery-inspired response in mechanical networks}}, doi = {10.1073/pnas.1612139114}, volume = {114}, year = {2017}, }