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1.
Nature ; 583(7814): 39-42, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32612222

RESUMEN

The interiors of giant planets remain poorly understood. Even for the planets in the Solar System, difficulties in observation lead to large uncertainties in the properties of planetary cores. Exoplanets that have undergone rare evolutionary processes provide a route to understanding planetary interiors. Planets found in and near the typically barren hot-Neptune 'desert'1,2 (a region in mass-radius space that contains few planets) have proved to be particularly valuable in this regard. These planets include HD149026b3, which is thought to have an unusually massive core, and recent discoveries such as LTT9779b4 and NGTS-4b5, on which photoevaporation has removed a substantial part of their outer atmospheres. Here we report observations of the planet TOI-849b, which has a radius smaller than Neptune's but an anomalously large mass of [Formula: see text] Earth masses and a density of [Formula: see text] grams per cubic centimetre, similar to Earth's. Interior-structure models suggest that any gaseous envelope of pure hydrogen and helium consists of no more than [Formula: see text] per cent of the total planetary mass. The planet could have been a gas giant before undergoing extreme mass loss via thermal self-disruption or giant planet collisions, or it could have avoided substantial gas accretion, perhaps through gap opening or late formation6. Although photoevaporation rates cannot account for the mass loss required to reduce a Jupiter-like gas giant, they can remove a small (a few Earth masses) hydrogen and helium envelope on timescales of several billion years, implying that any remaining atmosphere on TOI-849b is likely to be enriched by water or other volatiles from the planetary interior. We conclude that TOI-849b is the remnant core of a giant planet.

2.
PLoS Genet ; 18(2): e1010078, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-35202390

RESUMEN

Pack-TYPE transposable elements (TEs) are a group of non-autonomous DNA transposons found in plants. These elements can efficiently capture and shuffle coding DNA across the host genome, accelerating the evolution of genes. Despite their relevance for plant genome plasticity, the detection and study of Pack-TYPE TEs are challenging due to the high similarity these elements have with genes. Here, we produced an automated annotation pipeline designed to study Pack-TYPE elements and used it to successfully annotate and analyse more than 10,000 new Pack-TYPE TEs in the rice and maize genomes. Our analysis indicates that Pack-TYPE TEs are an abundant and heterogeneous group of elements. We found that these elements are associated with all main superfamilies of Class II DNA transposons in plants and likely share a similar mechanism to capture new chromosomal DNA sequences. Furthermore, we report examples of the direct contribution of these TEs to coding genes, suggesting a generalised and extensive role of Pack-TYPE TEs in plant genome evolution.


Asunto(s)
Elementos Transponibles de ADN , Oryza , Elementos Transponibles de ADN/genética , Evolución Molecular , Genoma de Planta/genética , Oryza/genética , Zea mays/genética
3.
Am J Physiol Heart Circ Physiol ; 327(2): H331-H339, 2024 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-38847760

RESUMEN

Chronic exercise training is associated with an "athlete's artery" phenotype in young adults and an attenuated age-related decline in endothelium-dependent arterial function. Adolescence is associated with an influx of sex-specific hormones that may exert divergent effects on endothelial function, but whether training adaptations interact with biological maturation to produce a "youth athlete's artery" has not been explored. We investigated the influence of exercise-training status on endothelium-dependent arterial function during childhood and adolescence. Brachial artery flow-mediated dilation (FMD) was assessed in n = 102 exercise-trained (males, n = 25; females, n = 29) and untrained (males, n = 23; females, n = 25) youths, characterized as pre (males, n = 25; females, n = 26)- or post (males, n = 23; females, n = 28)-predicted age at peak height velocity (PHV). Baseline brachial artery diameter was larger in post- compared with pre-PHV youths (P ≤ 0.001), males compared with females (P ≤ 0.001), and trained compared with untrained youths (3.26 ± 0.51 vs. 3.11 ± 0.42 mm; P = 0.041). Brachial FMD was similar in pre- and post-PHV youths (P = 0.298), and males and females (P = 0.946). However, exercise-trained youths demonstrated higher FMD when compared with untrained counterparts (5.3 ± 3.3 vs. 3.0 ± 2.6%; P ≤ 0.001). Furthermore, brachial artery diameter (r2 = 0.142; P = 0.007 vs. r2 = 0.004; P = 0.652) and FMD (r2 = 0.138; P = 0.008 vs. r2 = 0.003; P = 0.706) were positively associated with cardiorespiratory fitness in post-, but not pre-PHV youths, respectively. Collectively, our data indicate that exercise training is associated with brachial artery remodeling and enhanced endothelial function during youth. However, arterial remodeling and endothelium-dependent function are only associated with elevated cardiorespiratory fitness during later stages of adolescence.NEW & NOTEWORTHY We report preliminary evidence of the "youth athlete's artery," characterized by training-related arterial remodeling and elevated endothelium-dependent arterial function in children and adolescents. However, training-related adaptations in brachial artery diameter and flow-mediated dilation (FMD) were associated with cardiorespiratory fitness in adolescents, but not in children. Our findings indicate that endothelium-dependent arterial function is modifiable with chronic exercise training during childhood, but the association between FMD and elevated cardiorespiratory fitness is only apparent during later stages of adolescence.


Asunto(s)
Arteria Braquial , Ejercicio Físico , Vasodilatación , Humanos , Masculino , Femenino , Adolescente , Arteria Braquial/fisiología , Arteria Braquial/diagnóstico por imagen , Niño , Ejercicio Físico/fisiología , Endotelio Vascular/fisiología , Flujo Sanguíneo Regional , Adaptación Fisiológica , Atletas , Factores de Edad
4.
Plant Cell Environ ; 47(9): 3344-3364, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38321805

RESUMEN

Gas exchange measurements enable mechanistic insights into the processes that underpin carbon and water fluxes in plant leaves which in turn inform understanding of related processes at a range of scales from individual cells to entire ecosytems. Given the importance of photosynthesis for the global climate discussion it is important to (a) foster a basic understanding of the fundamental principles underpinning the experimental methods used by the broad community, and (b) ensure best practice and correct data interpretation within the research community. In this review, we outline the biochemical and biophysical parameters of photosynthesis that can be investigated with gas exchange measurements and we provide step-by-step guidance on how to reliably measure them. We advise on best practices for using gas exchange equipment and highlight potential pitfalls in experimental design and data interpretation. The Supporting Information contains exemplary data sets, experimental protocols and data-modelling routines. This review is a community effort to equip both the experimental researcher and the data modeller with a solid understanding of the theoretical basis of gas-exchange measurements, the rationale behind different experimental protocols and the approaches to data interpretation.


Asunto(s)
Fotosíntesis , Fotosíntesis/fisiología , Hojas de la Planta/fisiología , Hojas de la Planta/metabolismo , Dióxido de Carbono/metabolismo , Plantas/metabolismo
5.
Am J Med Genet A ; : e63638, 2024 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-38779990

RESUMEN

Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016-2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported), most (81%) patients returned to MGH at least once. For patients followed for at least 5 years, symptom progression was observed in all. 55% were female and 9% were older than 18 years at diagnosis. Pathogenic variants in SMAD4 involved protein residues p.Ile500Val (49%), p.Ile500Thr (11%), p.Ile500Leu (2%), and p.Arg496Cys (38%). Individuals with the SMAD4 variant p.Arg496Cys were less likely to have hearing loss, growth restriction, and aortic hypoplasia than the other variant groups. Those with the p.Ile500Thr variant had moderate/severe aortic hypoplasia in three patients (60%), however, the small number (n = 5) prevented statistical comparison with the other variants. Two deaths reported in this cohort involved complex cardiovascular disease and airway stenosis, respectively. We provide a foundation for ongoing natural history studies and emphasize the need for evidence-based guidelines in anticipation of disease-specific therapies.

6.
J Exp Biol ; 227(3)2024 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-38235786

RESUMEN

As climate change-induced heatwaves become more common, phenotypic plasticity at multiple levels is a key mitigation strategy by which organisms can optimise selective outcomes. In ectotherms, changes to both metabolism and behaviour can help alleviate thermal stress. Nonetheless, no study in any ectotherm has yet empirically investigated how changing temperatures affect among-individual differences in the associations between these traits. Using the beadlet anemone (Actinia equina), an intertidal species from a thermally heterogeneous environment, we investigated how individual metabolic rates, linked to morphotypic differences in A. equina, and boldness were related across changing temperatures. A crossed-over design and a temporal control were used to test the same individuals at a non-stressful temperature, 13°C, and under a simulated heatwave at 21°C. At each temperature, short-term repeated measurements of routine metabolic rate (RMR) and a single measurement of a repeatable boldness-related behaviour, immersion response time (IRT), were made. Individual differences, but not morphotypic differences, were highly predictive of metabolic plasticity, and the plasticity of RMR was associated with IRT. At 13°C, shy animals had the highest metabolic rates, while at 21°C, this relationship was reversed. Individuals that were bold at 13°C also exhibited the highest metabolic rates at 21°C. Additional metabolic challenges during heatwaves could be detrimental to fitness in bold individuals. Equally, lower metabolic rates at non-stressful temperatures could be necessary for optimal survival as heatwaves become more common. These results provide novel insight into the relationship between metabolic and behavioural plasticity, and its adaptive implications in a changing climate.


Asunto(s)
Anémonas de Mar , Animales , Conducta Animal/fisiología , Temperatura
7.
J Chem Phys ; 160(6)2024 Feb 14.
Artículo en Inglés | MEDLINE | ID: mdl-38349624

RESUMEN

Density functional theory (DFT) stands as a cornerstone method in computational quantum chemistry and materials science due to its remarkable versatility and scalability. Yet, it suffers from limitations in accuracy, particularly when dealing with strongly correlated systems. To address these shortcomings, recent work has begun to explore how machine learning can expand the capabilities of DFT: an endeavor with many open questions and technical challenges. In this work, we present GradDFT a fully differentiable JAX-based DFT library, enabling quick prototyping and experimentation with machine learning-enhanced exchange-correlation energy functionals. GradDFT employs a pioneering parametrization of exchange-correlation functionals constructed using a weighted sum of energy densities, where the weights are determined using neural networks. Moreover, GradDFT encompasses a comprehensive suite of auxiliary functions, notably featuring a just-in-time compilable and fully differentiable self-consistent iterative procedure. To support training and benchmarking efforts, we additionally compile a curated dataset of experimental dissociation energies of dimers, half of which contain transition metal atoms characterized by strong electronic correlations. The software library is tested against experimental results to study the generalization capabilities of a neural functional across potential energy surfaces and atomic species, as well as the effect of training data noise on the resulting model accuracy.

8.
Vet Surg ; 53(6): 1093-1101, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38747194

RESUMEN

OBJECTIVE: The objective of this study was to assess whether negative pressure could be maintained accurately and repeatably with a wall-suction-based hybrid negative pressure wound therapy (h-NPWT) system by comparing it with a commercial negative pressure wound therapy (NPWT) device. STUDY DESIGN: In vitro experimental study. METHODS: A commercial NPWT device (control) and three h-NPWT devices, with 0, 3, and 6 meters of additional tubing using the hospital-wall suction (groups 1, 2, and 3 respectively), were applied sequentially to a commercial NPWT dressing on a silicone skin substrate and set to run at a continuous pressure of -125 mmHg. The pressure within the wound space was monitored at 10 second intervals for 24 h. The process was repeated five times for each group. RESULTS: The commercial NPWT device produced an average pressure variance of 3.02 mmHg, and the h-NPWT produced average variances of 4.38, 4.24 and 4.20 mmHg for groups 1, 2 and 3, respectively. All groups produced an average pressure within 0.15 mmHg of -125 mmHg over the 24-hour period, and the h-NPWT systems produced the smallest range with all values remaining within a ±5% variation from -125 mmHg. CONCLUSION: The h-NPWT system achieved negative pressures that were comparable to those of a commercial control NPWT device. The addition of tubing between the skin substrate and the canister did not affect the pressure applied at the wound site. CLINICAL SIGNIFICANCE: The h-NPWT device tested in this study can be considered as an alternative for negative wound therapy when a commercial device cannot be used.


Asunto(s)
Terapia de Presión Negativa para Heridas , Terapia de Presión Negativa para Heridas/veterinaria , Terapia de Presión Negativa para Heridas/instrumentación , Terapia de Presión Negativa para Heridas/métodos , Animales , Cicatrización de Heridas , Técnicas In Vitro , Vendajes/veterinaria
9.
J Am Chem Soc ; 145(25): 13846-13857, 2023 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-37319428

RESUMEN

Generating sustainable fuel from sunlight plays an important role in meeting the energy demands of the modern age. Herein, we report two-coordinate carbene-metal-amide (cMa, M = Cu(I) and Au(I)) complexes that can be used as sensitizers to promote the light-driven reduction of water to hydrogen. The cMa complexes studied here absorb visible photons (εvis > 103 M-1 cm-1), maintain long excited-state lifetimes (τ ∼ 0.2-1 µs), and perform stable photoinduced charge transfer to a target substrate with high photoreducing potential (E+/* up to -2.33 V vs Fc+/0 based on a Rehm-Weller analysis). We pair these coinage metal complexes with a cobalt-glyoxime electrocatalyst to photocatalytically generate hydrogen and compare the performance of the copper- and gold-based cMa complexes. We also find that the two-coordinate complexes herein can perform photodriven hydrogen production from water without the addition of the cobalt-glyoxime electrocatalyst. In this "catalyst-free" system, the cMa sensitizer partially decomposes to give metal nanoparticles that catalyze water reduction. This work identifies two-coordinate coinage metal complexes as promising abundant metal, solar fuel photosensitizers that offer exceptional tunability and photoredox properties.

10.
Am J Hum Genet ; 107(2): 175-182, 2020 08 06.
Artículo en Inglés | MEDLINE | ID: mdl-32763188

RESUMEN

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other parts of the world. Consequently, inclusion of currently underrepresented Indigenous and other minority population groups in genomic research is essential to enable equitable outcomes in ECS and other areas of genomic medicine. Here, we discuss this issue in relation to the implementation of ECS in Australia, which is currently being evaluated as part of the national Government's Genomics Health Futures Mission. We argue that significant effort is required to build an evidence base and genomic reference data so that ECS can bring significant clinical benefit for many Aboriginal and/or Torres Strait Islander Australians. These efforts are essential steps to achieving the Australian Government's objectives and its commitment "to leveraging the benefits of genomics in the health system for all Australians." They require culturally safe, community-led research and community involvement embedded within national health and medical genomics programs to ensure that new knowledge is integrated into medicine and health services in ways that address the specific and articulated cultural and health needs of Indigenous people. Until this occurs, people who do not have European ancestry are at risk of being, in relative terms, further disadvantaged.


Asunto(s)
Metagenómica/métodos , Grupos de Población/genética , Australia , Variación Genética/genética , Humanos
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