Self-similarity and singularity formation in a coupled system of Yang-Mills-dilaton evolution equations

We study both analytically and numerically a coupled system of spherically symmetric SU(2) Yang-Mills-dilaton equation in 3+1 Minkowski space-time. It has been found that the system admits a hidden scale invariance which becomes transparent if a special ansatz for the dilaton field is used. This choice corresponds to transition to a frame rotated in the $\ln r-t$ plane at a definite angle. We find an infinite countable family of self-similar solutions which can be parametrized by the $N$ - the number of zeros of the relevant Yang-Mills function. According to the performed linear perturbation analysis, the lowest solution with N=0 only occurred to be stable. The Cauchy problem has been solved numerically for a wide range of smooth finite energy initial data. It has been found that if the initial data exceed some threshold, the resulting solutions in a compact region shrinking to the origin, attain the lowest N=0 stable self-similar profile, which can pretend to be a global stable attractor in the Cauchy problem. The solutions live a finite time in a self-similar regime and then the unbounded growth of the second derivative of the YM function at the origin indicates a singularity formation, which is in agreement with the general expectations for the supercritical systems.Comment: 10 pages, 5 figure

Neutron star in presence of torsion-dilaton field

We develop the general theory of stars in Saa's model of gravity with propagating torsion and study the basic stationary state of neutron star. Our numerical results show that the torsion force decreases the role of the gravity in the star configuration leading to significant changes in the neutron star masses depending on the equation of state of star matter. The inconsistency of the Saa's model with Roll-Krotkov-Dicke and Braginsky-Panov experiments is discussed.Comment: 29 pages, latex, 24 figures, final version. Added: 1)comments on different possible mass definitions; 2)new sections: a)the inconsistency of the Saa's model with Roll-Krotkov-Dicke and Braginsky-Panov experiments; b)stability analysis via catastrophe theory; 3)new figers added and some figures replaced. 4)new reference

Boson stars in massive dilatonic gravity

We study equilibrium configurations of boson stars in the framework of a class scalar-tensor theories of gravity with massive gravitational scalar (dilaton). In particular we investigate the influence of the mass of the dilaton on the boson star structure. We find that the masses of the boson stars in presence of dilaton are close to those in general relativity and they are sensitive to the ratio of the boson mass to the dilaton mass within a typical few percent. It turns out also that the boson star structure is mainly sensitive to the mass term of the dilaton potential rather to the exact form of the potential.Comment: 9 pages, latex, 9 figures, one figure dropped, new comments added, new references added, typos correcte

Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex

The bladder exstrophy-epispadias complex (BEEC) represents a spectrum of urological abnormalities where part, or all, of the distal urinary tract fails to close during development, becoming exposed on the outer abdominal wall. While the etiology of BEEC remains unknown, strong evidence exists that genetic factors are implicated. To understand the pathways regulating embryonic bladder development and to identify high-probability BEEC candidate genes, we conducted a genome-wide expression profiling (GWEP) study using normal and exstrophic human urinary bladders and human and mouse embryologic bladder-precursor tissues. We identified 162 genes differentially expressed in both embryonic and postnatal human samples. Pathway analysis of these genes revealed 11 biological networks with top functions related to skeletal and muscular system development, cellular assembly and development, organ morphology, or connective tissue disorders. The two most down-regulated genes desmin (DES, fold-change, -74.7) and desmuslin (DMN, fold-change, -53.0) are involved in desmosome mediated cell-cell adhesion and cytoskeletal architecture. Intriguingly, the sixth most overexpressed gene was desmoplakin (DSP, fold-change, +48.8), the most abundant desmosomal protein. We found 30% of the candidate genes to be directly associated with desmosome structure/function or cytoskeletal assembly, pointing to desmosomal and/or cytoskeletal deregulation as an etiologic factor for BEEC. Further findings indicate that p63, PERP, SYNPO2 and the Wnt pathway may also contribute to BEEC etiology. This study provides the first expression profile of urogenital genes during bladder development and points to the high-probability candidate genes for BEEC

Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis

Craniosynostosis (CS) is a major birth defect in which one or more skull sutures fuse prematurely. We previously performed a genome-wide association study (GWAS) for sagittal nonsyndromic CS (sNCS), identifying associations downstream from BMP2 on 20p12.3 and intronic to BBS9 on 7p14.3; analyses of imputed variants in DLG1 on 3q29 were also genome-wide significant. We followed this work with a GWAS for metopic non-syndromic NCS (mNCS), discovering a significant association intronic to BMP7 on 20q13.31. In the current study, we sequenced the associated regions on 3q29, 7p14.3, and 20p12.3, including two candidate genes (BMP2 and BMPER) near some of these regions in 83 sNCS child-parent trios, and sequenced regions on 7p14.3 and 20q13.2-q13.32 in 80 mNCS child-parent trios. These child-parent trios were selected from the original GWAS co-horts if the probands carried at least one copy of the top associated GWAS variant (rs1884302 C allele for sNCS; rs6127972 T allele for mNCS). Many of the variants sequenced in these targeted regions are strongly predicted to be within binding sites for transcription factors involved in crani-ofacial development or bone morphogenesis. Variants enriched in more than one trio and predicted to be damaging to gene function are prioritized for functional studies

Effects of Thyroxine Exposure on Osteogenesis in Mouse Calvarial Pre-Osteoblasts

The incidence of craniosynostosis is one in every 1,800-2500 births. The gene-environment model proposes that if a genetic predisposition is coupled with environmental exposures, the effects can be multiplicative resulting in severely abnormal phenotypes. At present, very little is known about the role of gene-environment interactions in modulating craniosynostosis phenotypes, but prior evidence suggests a role for endocrine factors. Here we provide a report of the effects of thyroid hormone exposure on murine calvaria cells. Murine derived calvaria cells were exposed to critical doses of pharmaceutical thyroxine and analyzed after 3 and 7 days of treatment. Endpoint assays were designed to determine the effects of the hormone exposure on markers of osteogenesis and included, proliferation assay, quantitative ALP activity assay, targeted qPCR for mRNA expression of Runx2, Alp, Ocn, and Twist1, genechip array for 28,853 targets, and targeted osteogenic microarray with qPCR confirmations. Exposure to thyroxine stimulated the cells to express ALP in a dose dependent manner. There were no patterns of difference observed for proliferation. Targeted RNA expression data confirmed expression increases for Alp and Ocn at 7 days in culture. The genechip array suggests substantive expression differences for 46 gene targets and the targeted osteogenesis microarray indicated 23 targets with substantive differences. 11 gene targets were chosen for qPCR confirmation because of their known association with bone or craniosynostosis (Col2a1, Dmp1, Fgf1, 2, Igf1, Mmp9, Phex, Tnf, Htra1, Por, and Dcn). We confirmed substantive increases in mRNA for Phex, FGF1, 2, Tnf, Dmp1, Htra1, Por, Igf1 and Mmp9, and substantive decreases for Dcn. It appears thyroid hormone may exert its effects through increasing osteogenesis. Targets isolated suggest a possible interaction for those gene products associated with calvarial suture growth and homeostasis as well as craniosynostosis. © 2013 Cray et al

Estimation of parameters in a structured SIR model

[EN] In this paper, an age-structured epidemiological process is considered. The disease model is based on a SIR model with unknown parameters. We addressed two important issues to analyzing the model and its parameters. One issue is concerned with the theoretical existence of unique solution, the identifiability problem. The second issue is how to estimate the parameters in the model. We propose an iterative algorithm to study the identifiability of the system and a method to estimate the parameters which are identifiable. A least squares approach based on a finite set of observations helps us to estimate the initial values of the parameters. Finally, we test the proposed algorithms.The authors would like to thank the referees and the editor for their comments and useful suggestions for improvement of the manuscript. This work has been partially supported by Spanish Grant MTM2013-43678-P.Cantó Colomina, B.; Coll, C.; Sánchez, E. (2017). Estimation of parameters in a structured SIR model. Advances in Difference Equations. 33:1-13. https://doi.org/10.1186/s13662-017-1078-5S11333Strogatz, S, Friedman, M, Mallinck-Rodt, AJ, McKay, S: Nonlinear Dynamics and Chaos: With Applications to Physics, Biology, Chemistry, and Engineering. Perseus Books, Washington (1994)De La Sen, M, Quesada, A: Some equilibrium, stability, instability and oscillatory results for an extended discrete epidemic model with evolution memory. Adv. Differ. Equ. 2013, 234 (2013)Han, Q, Wang, Z: On extinction of infectious diseases for multi-group SIRS models with satured incidence rate. Adv. Differ. Equ. 2015, 333 (2015)Cantó, B, Coll, C, Sánchez, E: Structural identifiability of a model of dialysis. Math. Comput. Model. 50, 733-737 (2009)Cantó, B, Coll, C, Sánchez, E: Identifiability of a class of discretized linear partial differential algebraic equations. Math. Probl. Eng., 1-12 (2011)Craciun, G, Pantea, C: Identifiability of chemical reaction networks. J. Math. Chem. 44, 244-259 (2008)Malik, MB, Salman, M: State-space least mean square. Digit. Signal Process. 18, 334-345 (2008)Ding, F, Liu, PX, Liu, G: Multiinnovatiovation least-squares identification for system modeling. IEEE Trans. Syst. Man Cybern., Part B, Cybern. 18(3), 767-778 (2010)Ben-Zvi, A, McLellan, PJ, McAuley, KB: Identifiability of linear time-invariant differential-algebraic systems, I. The generalized Markov parameter approach. Ind. Eng. Chem. Res. 42, 6607-6618 (2003)Boyadjiev, C, Dimitrova, E: An iterative method for model parameter identification. Comput. Chem. Eng. 29, 941-948 (2005)Ben-Zvi, A, McLellan, PJ, McAuley, KB: Identifiability of linear time-invariant differential-algebraic systems, 2. The differential-algebraic approach. Ind. Eng. Chem. Res. 43, 1251-1259 (2004)Dion, JM, Commault, C, van der Woude, J: Generic properties and control of linear structured systems: a survey. Automatica 39, 1125-1144 (2003)Chou, IC, Voit, EO: Recent developments in parameter estimation and structure identification of biochemical and genomic systems. Math. Biosci. 219, 57-83 (2009)Schmitz, OJ: Ecology and Ecosystems Conservation. Island Press, Washington (2013

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

Background Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit. Report Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence). Patient 1: NBAS c.5741G > A p.(Arg1914His); c.3010C > T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. Patient 2: NBAS c.5741G > A p.(Arg1914His); c.2032C > T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency. Discussion Homozygous missense NBAS variants cause SOPH syndrome (short stature; optic atrophy; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele. Recent literature suggests a multi-system phenotype. In this study, patient fibroblasts have shown reduced collagen expression, compared to control cells and RNAseq studies, in bone cells show that NBAS is expressed in osteoblasts and osteocytes of rodents and primates. These findings provide proof-of-concept that NBAS mutations have mechanistic effects in bone, and that NBAS variants are a novel cause of bone fragility, which is distinguishable from ‘Classical’ OI. Conclusions Here we report on variants in NBAS, as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. We explore the mechanism underlying NBAS and the striking skeletal phenotype in our patients

Boson-fermion stars: exploring different configurations

We use the flexibility of the concept of a fermion-boson star to explore different configurations, ranging from objects of atomic size and masses of the order $10^{18}$ g, up to objects of galactic masses and gigantic halos around a smaller core, with possible interesting applications to astrophysics and cosmology, particularly in the context of dark matter.Comment: 8 pages. Minor changes, new reference added and a few typos correcte

CK2 Phosphorylates Sec31 and Regulates ER-To-Golgi Trafficking

Protein export from the endoplasmic reticulum (ER) is an initial and rate-limiting step of molecular trafficking and secretion. This is mediated by coat protein II (COPII)-coated vesicles, whose formation requires small GTPase Sar1 and 6 Sec proteins including Sec23 and Sec31. Sec31 is a component of the outer layer of COPII coat and has been identified as a phosphoprotein. The initiation and promotion of COPII vesicle formation is regulated by Sar1; however, the mechanism regulating the completion of COPII vesicle formation followed by vesicle release is largely unknown. Hypothesizing that the Sec31 phosphorylation may be such a mechanism, we identified phosphorylation sites in the middle linker region of Sec31. Sec31 phosphorylation appeared to decrease its association with ER membranes and Sec23. Non-phosphorylatable mutant of Sec31 stayed longer at ER exit sites and bound more strongly to Sec23. We also found that CK2 is one of the kinases responsible for Sec31 phosphorylation because CK2 knockdown decreased Sec31 phosphorylation, whereas CK2 overexpression increased Sec31 phosphorylation. Furthermore, CK2 knockdown increased affinity of Sec31 for Sec23 and inhibited ER-to-Golgi trafficking. These results suggest that Sec31 phosphorylation by CK2 controls the duration of COPII vesicle formation, which regulates ER-to-Golgi trafficking