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| 2. |
- Bascon-Cardozo, Karen, et al.
(författare)
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Fine-Scale Map Reveals Highly Variable Recombination Rates Associated with Genomic Features in the Eurasian Blackcap
- 2024
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Ingår i: Genome Biology and Evolution. - 1759-6653. ; 16:1
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Tidskriftsartikel (refereegranskat)abstract
- Recombination is responsible for breaking up haplotypes, influencing genetic variability, and the efficacy of selection. Bird genomes lack the protein PR domain-containing protein 9, a key determinant of recombination dynamics in most metazoans. Historical recombination maps in birds show an apparent stasis in positioning recombination events. This highly conserved recombination pattern over long timescales may constrain the evolution of recombination in birds. At the same time, extensive variation in recombination rate is observed across the genome and between different species of birds. Here, we characterize the fine-scale historical recombination map of an iconic migratory songbird, the Eurasian blackcap (Sylvia atricapilla), using a linkage disequilibrium–based approach that accounts for population demography. Our results reveal variable recombination rates among and within chromosomes, which associate positively with nucleotide diversity and GC content and negatively with chromosome size. Recombination rates increased significantly at regulatory regions but not necessarily at gene bodies. CpG islands are associated strongly with recombination rates, though their specific position and local DNA methylation patterns likely influence this relationship. The association with retrotransposons varied according to specific family and location. Our results also provide evidence of heterogeneous intrachromosomal conservation of recombination maps between the blackcap and its closest sister taxon, the garden warbler. These findings highlight the considerable variability of recombination rates at different scales and the role of specific genomic features in shaping this variation. This study opens the possibility of further investigating the impact of recombination on specific population-genomic features.
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| 3. |
- Bours, Andrea, et al.
(författare)
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The blackcap (Sylvia atricapilla) genome reveals a recent accumulation of LTR retrotransposons
- 2023
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Ingår i: Scientific Reports. - : Springer Nature. - 2045-2322. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Transposable elements (TEs) are mobile genetic elements that can move around the genome, and as such are a source of genomic variability. Based on their characteristics we can annotate TEs within the host genome and classify them into specific TE types and families. The increasing number of available high-quality genome references in recent years provides an excellent resource that will enhance the understanding of the role of recently active TEs on genetic variation and phenotypic evolution. Here we showcase the use of a high-quality TE annotation to understand the distinct effect of recent and ancient TE insertions on the evolution of genomic variation, within our study species the Eurasian blackcap (Sylvia atricapilla). We investigate how these distinct TE categories are distributed along the genome and evaluate how their coverage across the genome is correlated with four genomic features: recombination rate, gene coverage, CpG island coverage and GC content. We found within the recent TE insertions an accumulation of LTRs previously not seen in birds. While the coverage of recent TE insertions was negatively correlated with both GC content and recombination rate, the correlation with recombination rate disappeared and turned positive for GC content when considering ancient TE insertions.
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| 4. |
- Foust-Wright, Caroline, et al.
(författare)
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Development of a core set of outcome measures for OAB treatment.
- 2017
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Ingår i: International urogynecology journal. - : Springer Science and Business Media LLC. - 1433-3023 .- 0937-3462. ; 28:12, s. 1785-1793
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Tidskriftsartikel (refereegranskat)abstract
- Standardized measures enable the comparison of outcomes across providers and treatments giving valuable information for improving care quality and efficacy. The aim of this project was to define a minimum standard set of outcome measures and case-mix factors for evaluating the care of patients with overactive bladder (OAB).The International Consortium for Health Outcomes Measurement (ICHOM) convened an international working group (WG) of leading clinicians and patients to engage in a structured method for developing a core outcome set. Consensus was determined by a modified Delphi process, and discussions were supported by both literature review and patient input.The standard set measures outcomes of care for adults seeking treatment for OAB, excluding residents of long-term care facilities. The WG focused on treatment outcomes identified as most important key outcome domains to patients: symptom burden and bother, physical functioning, emotional health, impact of symptoms and treatment on quality of life, and success of treatment. Demographic information and case-mix factors that may affect these outcomes were also included.The standardized outcome set for evaluating clinical care is appropriate for use by all health providers caring for patients with OAB, regardless of specialty or geographic location, and provides key data for quality improvement activities and research.
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| 5. |
- Kirby, Michael G, et al.
(författare)
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Overactive bladder: Is there a link to the metabolic syndrome in men?
- 2010
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Ingår i: Neurourology and urodynamics. - : Wiley. - 1520-6777 .- 0733-2467. ; 29:8, s. 1360-4
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Tidskriftsartikel (refereegranskat)abstract
- It is becoming increasingly clear that a variety of metabolic, cardiovascular, and endocrine factors contribute to male pelvic health. In particular, a growing body of evidence suggests a relationship between lower urinary tract symptoms, benign prostatic hyperplasia, overactive bladder, erectile dysfunction, and the metabolic syndrome. This article explores these relationships, focusing on the role of the autonomic nervous system and hyperinsulinemia, together with their implications for urological practice.
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| 6. |
- Michel, Martin C., et al.
(författare)
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Current and Emerging Pharmacological Targets and Treatments of Urinary Incontinence and Related Disorders
- 2023
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Ingår i: Pharmacological Reviews. - : American Society for Pharmacology & Experimental Therapeutics (ASPET). - 0031-6997 .- 1521-0081. ; 75:4, s. 554-674
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Forskningsöversikt (refereegranskat)abstract
- Overactive bladder syndrome with and without urinary incontinence and related conditions, signs, and disorders such as detrusor overactivity, neurogenic lower urinary tract dysfunction, underactive bladder, stress urinary incontinence, and nocturia are common in the general population and have amajor impact on the quality of life of the affected patients and their partners. Based on the deliberations of the subcommittee on pharmacological treatments of the 7th International Consultation on Incontinence, we present a comprehensive review of established drug targets in the treatment of overactive bladder syndrome and the aforementioned related conditions and the approved drugs used in its treatment. Investigational drug targets and compounds are also reviewed.We conclude that, despite a range of available medical treatment options, a considerable medical need continues to exist. This is largely because the existing treatments are symptomatic and have limited efficacy and/or tolerability, which leads to poor long-termadherence. Significance Statement——Urinary incontinence and related disorders are prevalent in the general population. Whilemany treatments have been approved, few patients stay on long-term treatment despite none of them being curative. This paper provides a comprehensive discussion of existing and emerging treatment options for various types of incontinence and related disorders.
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| 7. |
- Robinson, Dudley, et al.
(författare)
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Oestrogens and overactive bladder
- 2014
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Ingår i: Neurourology and urodynamics. - : Wiley. - 1520-6777 .- 0733-2467. ; 33:7, s. 1086-1091
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Tidskriftsartikel (refereegranskat)abstract
- Estrogens are known to have a major role in the function of the lower urinary tract although the role of exogenous estrogen replacement therapy in the management of women with lower urinary tract dysfunction remains controversial. Whilst for many years systemic and vaginal estrogen therapy was felt to be beneficial in the treatment of lower urinary and genital tract symptoms this evidence has recently been challenged by large epidemiological studies investigating the use of systemic hormone replacement therapy. Consequently the role of estrogen in the management of postmenopausal women with Overactive Bladder (OAB) remains uncertain. In addition the evidence base regarding the use of exogenous estrogen therapy has changed significantly over the last decade and has led to a major changes in current clinical practice. The aim of this article is to review the evidence for the role of estrogen therapy in the management of OAB focusing on current knowledge with regard to both systemic and local estrogen therapy as well as investigating the emerging role of combination therapy with antimuscarinic agents. Neurourol. Urodynam. © 2013 Wiley Periodicals, Inc.
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| 8. |
- Sievert, Karl-Dietrich, et al.
(författare)
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Can we prevent incontinence? ICI-RS 2011.
- 2012
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Ingår i: Neurourology and urodynamics. - : Wiley. - 1520-6777 .- 0733-2467. ; 31:3, s. 390-9
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Tidskriftsartikel (refereegranskat)abstract
- A review of the current state of research with regard to prevention of incontinence.
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