Search results for " Genetics"

Italian Association of Sleep Medicine (AIMS) position statement and guideline on the treatment of menopausal sleep disorders

2019

Insomnia, vasomotor symptoms (VMS) and depression often co-occur after the menopause, with consequent health problems and reductions in quality of life. The aim of this position statement is to provide evidence-based advice on the management of postmenopausal sleep disorders derived from a systematic review of the literature. The latter yielded results on VMS, insomnia, circadian rhythm disorders, obstructive sleep apnea (OSA) and restless leg syndrome (RLS). Overall, the studies show that menopausal hormone therapy (MHT) improves VMS, insomnia, and mood. Several antidepressants can improve insomnia, either on their own or in association with MHT; these include selective serotonin reuptake …

Intrinsically disordered protein PID-2 modulates Z granules and is required for heritable piRNA-induced silencing in the Caenorhabditis elegans embryo

2020

Abstract In Caenorhabditis elegans, the piRNA (21U RNA) pathway is required to establish proper gene regulation and an immortal germline. To achieve this, PRG‐1‐bound 21U RNAs trigger silencing mechanisms mediated by RNA‐dependent RNA polymerase (RdRP)‐synthetized 22G RNAs. This silencing can become PRG‐1‐independent and heritable over many generations, a state termed RNA‐induced epigenetic gene silencing (RNAe). How and when RNAe is established, and how it is maintained, is not known. We show that maternally provided 21U RNAs can be sufficient for triggering RNAe in embryos. Additionally, we identify PID‐2, a protein containing intrinsically disordered regions (IDRs), as a factor required …

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.

2014

Mutations in the cytosine-5 RNA methyltransferase NSun2 cause microcephaly and other neurological abnormalities in mice and human. How post-transcriptional methylation contributes to the human disease is currently unknown. By comparing gene expression data with global cytosine-5 RNA methylomes in patient fibroblasts and NSun2-deficient mice, we find that loss of cytosine-5 RNA methylation increases the angiogenin-mediated endonucleolytic cleavage of transfer RNAs (tRNA) leading to an accumulation of 5' tRNA-derived small RNA fragments. Accumulation of 5' tRNA fragments in the absence of NSun2 reduces protein translation rates and activates stress pathways leading to reduced cell siz…

Small RNA‐binding protein RapZ mediates cell envelope precursor sensing and signaling in Escherichia coli

2019

Abstract The RNA‐binding protein RapZ cooperates with small RNAs (sRNAs) GlmY and GlmZ to regulate the glmS mRNA in Escherichia coli. Enzyme GlmS synthesizes glucosamine‐6‐phosphate (GlcN6P), initiating cell envelope biosynthesis. GlmZ activates glmS expression by base‐pairing. When GlcN6P is ample, GlmZ is bound by RapZ and degraded through ribonuclease recruitment. Upon GlcN6P depletion, the decoy sRNA GlmY accumulates through a previously unknown mechanism and sequesters RapZ, suppressing GlmZ decay. This circuit ensures GlcN6P homeostasis and thereby envelope integrity. In this work, we identify RapZ as GlcN6P receptor. GlcN6P‐free RapZ stimulates phosphorylation of the two‐component sy…

SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita.

2006

RNA interference offers a novel approach for treating genetic disorders including the rare monogenic skin disorder pachyonychia congenita (PC). PC is caused by mutations in keratin 6a (K6a), K6b, K16, and K17 genes, including small deletions and single nucleotide changes. Transfection experiments of a fusion gene consisting of K6a and a yellow fluorescent reporter (YFP) resulted in normal keratin filament formation in transfected cells as assayed by fluorescence microscopy. Similar constructs containing a single nucleotide change (N171K) or a three-nucleotide deletion (N171del) showed keratin aggregate formation. Mutant-specific small inhibitory RNAs (siRNAs) effectively targeted these site…

An initial investigation of smokers’ urges to smoke and their exercise intensity preference: A mixed-methods approach

2016

 The purpose of this study was to examine whether smokers preferred a “self-selected” form of physical activity (PA) in which they were allowed to determine themselves the intensity of PA or preferred a “set” form of PA in which the instructor chose the exercise intensity for them. In addition, we examined effects of ‘set” and “self-selected” intensity exercise, on urges to smoke. Participants were 20 (mean age = 27.10 ± 7.37) adults, non-physically active, heavy smokers. Four of them were also interviewed. Results demonstrated that smokers exhibited an enhanced preference for “self-selected” forms of PA as opposed to “set” forms of PA. Smoking urge was significantly lower immediately after…

Self-Efficacy, Planning, or a Combination of Both? A Longitudinal Experimental Study Comparing Effects of Three Interventions on Adolescents’ Body Fat

2016

Author(s): Luszczynska, Aleksandra; Hagger, Martin S; Banik, Anna; Horodyska, Karolina; Knoll, Nina; Scholz, Urte | Abstract: BackgroundThe superiority of an intervention combining two sets of theory-based behavior change techniques targeting planning and self-efficacy over an intervention targeting planning only or self-efficacy only has rarely been investigated.PurposeWe compared the influence of self-efficacy, planning, and self-efficacy+planning interventions with an education-based control condition on adolescents' body fat, assuming mediating effects of respective social cognitive variables and moderate-to-vigorous physical activity (MVPA). The moderating role of the built environment…

Cancer Patients and Medical Practice. Some Historical and Cultural Considerations

1997

Développement humain et loi log-périodique

2002

We suggest applying the log-periodic law formerly used to describe various crisis phenomena, in biology (evolutionary leaps), inorganic systems (earthquakes), societies and economy (economic crisis, market crashes) to the various steps of human ontogeny. We find a statistically significant agreement between this model and the data.

2019

Trust is a critical issue in human–robot interactions: as robotic systems gain complexity, it becomes crucial for them to be able to blend into our society by maximizing their acceptability and reliability. Various studies have examined how trust is attributed by people to robots, but fewer have investigated the opposite scenario, where a robot is the trustor and a human is the trustee. The ability for an agent to evaluate the trustworthiness of its sources of information is particularly useful in joint task situations where people and robots must collaborate to reach shared goals. We propose an artificial cognitive architecture based on the developmental robotics paradigm that can estimate…