| 1. |
- Palmer, Elizabeth E., et al.
(författare)
-
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
- 2023
-
Ingår i: Molecular Psychiatry. - : SPRINGERNATURE. - 1359-4184 .- 1476-5578. ; 28:2, s. 668-697
-
Tidskriftsartikel (refereegranskat)abstract
- Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.
|
|
| 2. |
- Andreoni, Igor, et al.
(författare)
-
GROWTH on S190814bv : Deep Synoptic Limits on the Optical/Near-infrared Counterpart to a Neutron Star-Black Hole Merger
- 2020
-
Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 890:2
-
Tidskriftsartikel (refereegranskat)abstract
- On 2019 August 14, the Advanced LIGO and Virgo interferometers detected the high-significance gravitational wave (GW) signal S190814bv. The GW data indicated that the event resulted from a neutron star-black hole (NSBH) merger, or potentially a low-mass binary BH merger. Due to the low false-alarm rate and the precise localization (23 deg(2) at 90%), S190814bv presented the community with the best opportunity yet to directly observe an optical/near-infrared counterpart to an NSBH merger. To search for potential counterparts, the GROWTH Collaboration performed real-time image subtraction on six nights of public Dark Energy Camera images acquired in the 3 weeks following the merger, covering >98% of the localization probability. Using a worldwide network of follow-up facilities, we systematically undertook spectroscopy and imaging of optical counterpart candidates. Combining these data with a photometric redshift catalog, we ruled out each candidate as the counterpart to S190814bv and placed deep, uniform limits on the optical emission associated with S190814bv. For the nearest consistent GW distance, radiative transfer simulations of NSBH mergers constrain the ejecta mass of S190814bv to be M-ej < 0.04 M-circle dot at polar viewing angles, or M-ej < 0.03 M-circle dot if the opacity is kappa < 2 cm(2)g(-1). Assuming a tidal deformability for the NS at the high end of the range compatible with GW170817 results, our limits would constrain the BH spin component aligned with the orbital momentum to be chi < 0.7 for mass ratios Q < 6, with weaker constraints for more compact NSs.
|
|
| 3. |
- Archibald, Margaret, et al.
(författare)
-
The number of distinct adjacent pairs in geometrically distributed words
- 2021
-
Ingår i: Discrete Mathematics & Theoretical Computer Science. - : DISCRETE MATHEMATICS THEORETICAL COMPUTER SCIENCE. - 1462-7264 .- 1365-8050. ; 22:4
-
Tidskriftsartikel (refereegranskat)abstract
- A sequence of geometric random variables of length n is a sequence of n independent and identically distributed geometric random variables (Gamma(1), Gamma(2), ..., Gamma(n)) where P (Gamma(j) = i) = pq(i-1) for 1 <= j <= n with p + q = 1. We study the number of distinct adjacent two letter patterns in such sequences. Initially we directly count the number of distinct pairs in words of short length. Because of the rapid growth of the number of word patterns we change our approach to this problem by obtaining an expression for the expected number of distinct pairs in words of length n. We also obtain the asymptotics for the expected number as n -> infinity.
|
|
| 4. |
- Bellm, Eric C., et al.
(författare)
-
The Zwicky Transient Facility : System Overview, Performance, and First Results
- 2019
-
Ingår i: Publications of the Astronomical Society of the Pacific. - : IOP Publishing. - 0004-6280 .- 1538-3873. ; 131:995
-
Tidskriftsartikel (refereegranskat)abstract
- The Zwicky Transient Facility (ZTF) is a new optical time-domain survey that uses the Palomar 48 inch Schmidt telescope. A custom-built wide-field camera provides a 47 deg(2) field of view and 8 s readout time, yielding more than an order of magnitude improvement in survey speed relative to its predecessor survey, the Palomar Transient Factory. We describe the design and implementation of the camera and observing system. The ZTF data system at the Infrared Processing and Analysis Center provides near-real-time reduction to identify moving and varying objects. We outline the analysis pipelines, data products, and associated archive. Finally, we present on-sky performance analysis and first scientific results from commissioning and the early survey. ZTF's public alert stream will serve as a useful precursor for that of the Large Synoptic Survey Telescope.
|
|
| 5. |
- Cantwell-Jones, Aoife, et al.
(författare)
-
Mapping trait versus species turnover reveals spatiotemporal variation in functional redundancy and network robustness in a plant-pollinator community
- 2023
-
Ingår i: Functional Ecology. - : John Wiley & Sons. - 0269-8463 .- 1365-2435. ; 37:3, s. 748-762
-
Tidskriftsartikel (refereegranskat)abstract
- Functional overlap among species (redundancy) is considered important in shaping competitive and mutualistic interactions that determine how communities respond to environmental change. Most studies view functional redundancy as static, yet traits within species—which ultimately shape functional redundancy—can vary over seasonal or spatial gradients. We therefore have limited understanding of how trait turnover within and between species could lead to changes in functional redundancy or how loss of traits could differentially impact mutualistic interactions depending on where and when the interactions occur in space and time. Using an Arctic bumblebee community as a case study, and 1277 individual measures from 14 species over three annual seasons, we quantified how inter- and intraspecific body-size turnover compared to species turnover with elevation and over the season. Coupling every individual and their trait with a plant visitation, we investigated how grouping individuals by a morphological trait or by species identity altered our assessment of network structure and how this differed in space and time. Finally, we tested how the sensitivity of the network in space and time differed when simulating extinction of nodes representing either morphological trait similarity or traditional species groups. This allowed us to explore the degree to which trait-based groups increase or decrease interaction redundancy relative to species-based nodes. We found that (i) groups of taxonomically and morphologically similar bees turn over in space and time independently from each other, with trait turnover being larger over the season; (ii) networks composed of nodes representing species versus morphologically similar bees were structured differently; and (iii) simulated loss of bee trait groups caused faster coextinction of bumblebee species and flowering plants than when bee taxonomic groups were lost. Crucially, the magnitude of these effects varied in space and time, highlighting the importance of considering spatiotemporal context when studying the relative importance of taxonomic and trait contributions to interaction network architecture. Our finding that functional redundancy varies spatiotemporally demonstrates how considering the traits of individuals within networks is needed to understand the impacts of environmental variation and extinction on ecosystem functioning and resilience. Read the free Plain Language Summary for this article on the Journal blog.
|
|
| 6. |
- Elsik, Christine G., et al.
(författare)
-
The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
-
Tidskriftsartikel (refereegranskat)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
|
|
| 7. |
- Frederick, Sara, et al.
(författare)
-
A Family Tree of Optical Transients from Narrow-line Seyfert 1 Galaxies
- 2021
-
Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 920:1
-
Tidskriftsartikel (refereegranskat)abstract
- The Zwicky Transient Facility (ZTF) has discovered five events (0.01 < z < 0.4) belonging to an emerging class of active galactic nuclei (AGNs) undergoing smooth, large-amplitude, and rapidly rising flares. This sample consists of several transients initially classified as supernovae with narrow spectral lines. However, upon closer inspection, all of the host galaxies display Balmer lines with FWHM(H beta) similar to 900-1400 km s(-1), characteristic of a narrow-line Seyfert 1 (NLSy1) galaxy. The transient events are long lived, over 400 days on average in the observed frame. We report UV and X-ray follow-up of the flares and observe persistent UV emission, with two of the five transients detected with luminous X-ray emission, ruling out a supernova interpretation. We compare the properties of this sample to previously reported flaring NLSy1 galaxies and find that they fall into three spectroscopic categories: 1) Balmer line profiles and Fe ii complexes typical of NLSy1s, 2) strong He ii profiles, and 3) He ii profiles including Bowen fluorescence features. The latter are members of the growing class of AGN flares attributed to enhanced accretion reported by Trakhtenbrot et al. We consider physical interpretations in the context of related transients from the literature. For example, two of the sources show high-amplitude rebrightening in the optical, ruling out a simple tidal disruption event scenario for those transients. We conclude that three of the sample belong to the Trakhtenbrot et al. class and two are tidal disruption events in NLSy1s. We also hypothesize as to why NLSy1s are preferentially the sites of such rapid enhanced flaring activity.
|
|
| 8. |
- Frederick, Sara, et al.
(författare)
-
A New Class of Changing-look LINERs
- 2019
-
Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 883:1
-
Tidskriftsartikel (refereegranskat)abstract
- We report the discovery of six active galactic nuclei (AGNs) caught turning on during the first nine months of the Zwicky Transient Facility (ZTF) survey. The host galaxies were classified as low-ionization nuclear emissionline region galaxies (LINERs) by weak narrow forbidden line emission in their archival SDSS spectra, and detected by ZTF as nuclear transients. In five of the cases, we found via follow-up spectroscopy that they had transformed into broad-line AGNs, reminiscent of the changing-look LINER iPTF16bco. In one case, ZTF18aajupnt/ AT2018dyk, follow-up Hubble Space Telescope ultraviolet and ground-based optical spectra revealed the transformation into a narrow-line Seyfert 1 with strong [Fe VII, X, XIV] and He II lambda 4686 coronal lines. Swift monitoring observations of this source reveal bright UV emission that tracks the optical flare, accompanied by a luminous soft X-ray flare that peaks similar to 60 days later. Spitzer follow-up observations also detect a luminous midinfrared flare, implying a large covering fraction of dust. Archival light curves of the entire sample from CRTS, ATLAS, and ASAS-SN constrain the onset of the optical nuclear flaring from a prolonged quiescent state. Here we present the systematic selection and follow-up of this new class of changing-look LINERs, compare their properties to previously reported changing-look Seyfert galaxies, and conclude that they are a unique class of transients well-suited to test the uncertain physical processes associated with the LINER accretion state.
|
|
| 9. |
- Hammerstein, Erica, et al.
(författare)
-
The Final Season Reimagined : 30 Tidal Disruption Events from the ZTF-I Survey
- 2023
-
Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 942:1
-
Tidskriftsartikel (refereegranskat)abstract
- Tidal disruption events (TDEs) offer a unique way to study dormant black holes. While the number of observed TDEs has grown thanks to the emergence of wide-field surveys in the past few decades, questions regarding the nature of the observed optical, UV, and X-ray emission remain. We present a uniformly selected sample of 30 spectroscopically classified TDEs from the Zwicky Transient Facility Phase I survey operations with follow-up Swift UV and X-ray observations. Through our investigation into correlations between light-curve properties, we recover a shallow positive correlation between the peak bolometric luminosity and decay timescales. We introduce a new spectroscopic class of TDE, TDE-featureless, which are characterized by featureless optical spectra. The new TDE-featureless class shows larger peak bolometric luminosities, peak blackbody temperatures, and peak blackbody radii. We examine the differences between the X-ray bright and X-ray faint populations of TDEs in this sample, finding that X-ray bright TDEs show higher peak blackbody luminosities than the X-ray faint subsample. This sample of optically selected TDEs is the largest sample of TDEs from a single survey yet, and the systematic discovery, classification, and follow-up of this sample allows for robust characterization of TDE properties, an important stepping stone looking forward toward the Rubin era.
|
|
| 10. |
- Holtham, Clive, et al.
(författare)
-
Designing spaces for knowledge work - can the use of fiction help construct new realities?
- 2001
-
Ingår i: Proceedings of conference "Managing Knowledge, Conversations and Critiques".
-
Konferensbidrag (refereegranskat)abstract
- This paper is concerned with two approaches to designing spaces for knowledge work. The central concern of the first approach is with the use of fictional descriptions of the workplace, in order to stimulate creative thought about new workspaces. The second approach draws on the emerging potential of three dimensional virtual reality as a tool to develop shared visions and to stimulate creativity. The paper ends by summarising findings in three important dimensions of knowledge management in business: (a) The nature of knowledge work and its workspace requirements (b) Specific processes for developing creatively shared insights and understandings by potential users about future knowledge spaces (c) The overall philosophy of design of such spaces
|
|
