192 research outputs found

    Dissecting kinetically coupled quintessence: phenomenology and observational tests

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    We investigate an interacting dark energy model which allows for the kinetic term of the scalar field to couple to dark matter via a power-law interaction. The model is characterised by scaling solutions at early times, which are of high interest to alleviate the coincidence problem, followed by a period of accelerated expansion. We discuss the phenomenology of the background evolution and of the linear scalar perturbations and we identify measurable signatures of the coupling in the dark sector on the cosmic microwave background, the lensing potential auto-correlation and the matter power spectra. We also perform a parameter estimation analysis using data of cosmic microwave background temperature, polarisation and lensing, baryonic acoustic oscillations and supernovae. We find that the strength of the coupling between the dark sectors, regulated by the parameter α, is constrained to be of order 10-4. A model selection analysis does not reveal a statistical preference between ΛCDM and the Kinetic model

    The role of serum levels of vitamin D in children’s muscle strength: A systematic review

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    This review aims to investigate the different levels of vitamin D and its role in muscle strength in healthy children and non-athletes. A search conducted in three databases (PubMed, Scopus, and Psycinfo) resulted in 655 articles, which were systematically analyzed and selected based on the following criteria: (a) original cross-sectional studies and clinical trials; (b) healthy children aged 5-11 years; (c) no language restriction or year of publication; and (d) studies that assessed the possible relationship between vitamin D levels and muscle strength. Six studies were included because they met all the inclusion criteria. According to the findings of this review, factors such as sex, skin color, and vitamin D supplementation early in life modulate the levels of vitamin D in the body, and there is a relationship between muscle strength and vitamin D levels. Interestingly, vitamin D supplementation is not always significantly associated with increased muscle grip strength. However, there is a scarcity of studies that aim to analyze the possible effects of different levels of vitamin D on muscle function and neuromuscular variables in physically inactive children and non-athletes without previously diagnosed disease. Further studies are warranted in the future to address the gap in the literature

    The Role of Oestrogen Receptor Beta (ERβ) in the Aetiology and Treatment of Type 2 Diabetes Mellitus

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    Introduction: Challenges facing the treatment of type 2 diabetes necessitate the search for agents which act via alternative pathways to provide better therapeutic outcomes. Recently, an increasing body of evidence implicates the activation of oestrogen receptors (ERα and ERβ) in the development and treatment of underlying conditions in type 2 diabetes. This article summarizes available evidence for the involvement of oestrogen receptors in insulin secretion, insulin resistance as well as glucose uptake and highlights the potential of ERβ as a therapeutic target. Background: Recent studies indicate an association between the activation of each of the isoforms of ER and recent findings indicate that ERβ shows promise as a potential target for antidiabetic drugs. In vitro and in vivo studies in receptor knockout mice indicate beneficial actions of selective agonists of ERβ receptor and underscore its therapeutic potential. Conclusion: Studies are needed to further elucidate the exact mechanism underlying the role of ERβ activation as a therapeutic approach in the management of type 2 diabetes

    Endonuclease heteroduplex mismatch cleavage for detecting mutation genetic variation of trypsin inhibitors in soybean

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    The objective of this work was to evaluate the genetic variation of trypsin inhibitor in cultivated (Glycine max L.) and wild (Glycine sofa Siebold & Zucc.) soybean varieties. Genetic variations of the Kunitz trypsin inhibitor, represented by a 21-kD protein (KTI), and of the Bowman-Birk trypsin chymotrypsin inhibitor (BBI) were evaluated in cultivated (G. max) and wild (G. sofa) soybean varieties. Endonuclease heteroduplex mismatch cleavage assays were performed to detect mutations in the KTI gene, with a single-stranded specific nuclease obtained from celery extracts (CEL I). The investigated soybean varieties showed low level of genetic variation in KTI and BBI. PCR-RFLP analysis divided the BBI-A type into subtypes A1 and A2, and showed that Tib type of KTI is the dominant type. Digestion with restriction enzymes was not able to detect differences between ti-null and other types of Ti alleles, while the endonuclease heteroduplex mismatch cleavage assay with CEL I could detect ti-null type. The digestion method with CEL I provides a simple and useful genetic tool for SNP analysis. The presented method can be used as a tool for fast and useful screening of desired genotypes in future breeding programs of soybean

    A de novo paradigm for male infertility

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    Genetics of Male Infertility Initiative (GEMINI) consortium: Donald F. Conrad, Liina Nagirnaja, Kenneth I. Aston, Douglas T. Carrell, James M. Hotaling, Timothy G. Jenkins, Rob McLachlan, Moira K. O’Bryan, Peter N. Schlegel, Michael L. Eisenberg, Jay I. Sandlow, Emily S. Jungheim, Kenan R. Omurtag, Alexandra M. Lopes, Susana Seixas, Filipa Carvalho, Susana Fernandes, Alberto Barros, João Gonçalves, Iris Caetano, Graça Pinto, Sónia Correia, Maris Laan, Margus Punab, Ewa Rajpert-De Meyts, Niels Jørgensen, Kristian Almstrup, Csilla G. Krausz & Keith A. Jarvi.De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare (MAF < 0.1%) protein-altering de novo mutations are classified as possibly causative of the male infertility phenotype. We observed a significant enrichment of loss-of-function de novo mutations in loss-of-function-intolerant genes (p-value = 1.00 × 10−5) in infertile men compared to controls. Additionally, we detected a significant increase in predicted pathogenic de novo missense mutations affecting missense-intolerant genes (p-value = 5.01 × 10−4) in contrast to predicted benign de novo mutations. One gene we identify, RBM5, is an essential regulator of male germ cell pre-mRNA splicing and has been previously implicated in male infertility in mice. In a follow-up study, 6 rare pathogenic missense mutations affecting this gene are observed in a cohort of 2,506 infertile patients, whilst we find no such mutations in a cohort of 5,784 fertile men (p-value = 0.03). Our results provide evidence for the role of de novo mutations in severe male infertility and point to new candidate genes affecting fertility.This project was funded by The Netherlands Organization for Scientific Research (918-15-667) to J.A.V. as well as an Investigator Award in Science from the Wellcome Trust (209451) to J.A.V. a grant from the Catherine van Tussenbroek Foundation to M.S.O. a grant from MERCK to R.S. a UUKi Rutherford Fund Fellowship awarded to B.J.H. and the German Research Foundation Clinical Research Unit “Male Germ Cells” (DFG, CRU326) to C.F. and F.T. This project was also supported in part by funding from the Australian National Health and Medical Research Council (APP1120356) to M.K.O.B., by grants from the National Institutes of Health of the United States of America (R01HD078641 to D.F.C. and K.I.A., P50HD096723 to D.F.C.) and from the Biotechnology and Biological Sciences Research Council (BB/S008039/1) to D.J.E.info:eu-repo/semantics/publishedVersio
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