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- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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| 4. |
- Dornelas, M., et al.
(författare)
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BioTIME: A database of biodiversity time series for the Anthropocene
- 2018
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Ingår i: Global Ecology and Biogeography. - : Wiley. - 1466-822X .- 1466-8238. ; 27:7, s. 760-786
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Tidskriftsartikel (refereegranskat)abstract
- Motivation: The BioTIME database contains raw data on species identities and abundances in ecological assemblages through time. These data enable users to calculate temporal trends in biodiversity within and amongst assemblages using a broad range of metrics. BioTIME is being developed as a community-led open-source database of biodiversity time series. Our goal is to accelerate and facilitate quantitative analysis of temporal patterns of biodiversity in the Anthropocene. Main types of variables included: The database contains 8,777,413 species abundance records, from assemblages consistently sampled for a minimum of 2 years, which need not necessarily be consecutive. In addition, the database contains metadata relating to sampling methodology and contextual information about each record. Spatial location and grain: BioTIME is a global database of 547,161 unique sampling locations spanning the marine, freshwater and terrestrial realms. Grain size varies across datasets from 0.0000000158 km(2) (158 cm(2)) to 100 km(2) (1,000,000,000,000 cm(2)). Time period and grainBio: TIME records span from 1874 to 2016. The minimal temporal grain across all datasets in BioTIME is a year. Major taxa and level of measurement: BioTIME includes data from 44,440 species across the plant and animal kingdoms, ranging from plants, plankton and terrestrial invertebrates to small and large vertebrates.
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- Bernal, Ximena E., et al.
(författare)
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Empowering Latina scientists
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 363:6429, s. 825-826
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 7. |
- Gurgel-Giannetti, J., et al.
(författare)
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A novel complex neurological phenotype due to a homozygous mutation in FDX2
- 2018
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Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 141, s. 2289-2298
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Tidskriftsartikel (refereegranskat)abstract
- Defects in iron-sulphur [Fe-S] cluster biogenesis are increasingly recognized as causing neurological disease. Mutations in a number of genes that encode proteins involved in mitochondrial [Fe-S] protein assembly lead to complex neurological phenotypes. One class of proteins essential in the early cluster assembly are ferredoxins. FDX2 is ubiquitously expressed and is essential in the de novo formation of [2Fe-2S] clusters in humans. We describe and genetically define a novel complex neurological syndrome identified in two Brazilian families, with a novel homozygous mutation in FDX2. Patients were clinically evaluated, underwent MRI, nerve conduction studies, EMG and muscle biopsy. To define the genetic aetiology, a combination of homozygosity mapping and whole exome sequencing was performed. We identified six patients from two apparently unrelated families with autosomal recessive inheritance of a complex neurological phenotype involving optic atrophy and nystagmus developing by age 3, followed by myopathy and recurrent episodes of cramps, myalgia and muscle weakness in the first or second decade of life. Sensory-motor axonal neuropathy led to progressive distal weakness. MRI disclosed a reversible or partially reversible leukoencephalopathy. Muscle biopsy demonstrated an unusual pattern of regional succinate dehydrogenase and cytochrome c oxidase deficiency with iron accumulation. The phenotype was mapped in both families to the same homozygous missense mutation in FDX2 (c. 431C > T, p. P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue. This study describes a novel complex neurological phenotype with unusual MRI and muscle biopsy features, conclusively mapped to a mutation in FDX2, which encodes a ubiquitously expressed mitochondrial ferredoxin essential for early [Fe-S] cluster biogenesis.
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| 8. |
- Del Priore, Giuseppe, et al.
(författare)
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Uterine transplantation - a real possibility? The Indianapolis consensus.
- 2013
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Ingår i: Human Reproduction. - : Oxford University Press (OUP). - 0268-1161 .- 1460-2350. ; 28:2, s. 288-291
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Tidskriftsartikel (refereegranskat)abstract
- A group of experts gathered in Indianapolis in December 2011 to address lingering concerns related to uterus transplantation (UTn). They represent a multi-national group of four research teams who have worked for over 15 years on bringing UTn to reality for patients. Presented here are a set of parameters that must be considered in order for UTn to become an acceptable procedure in the human setting. UTn has been proposed as a potential solution to absolute uterine factor infertility (AUFI). Causes of AUFI include congenital uterine factors (i.e. absence or malformation) or acquired uterine factors (e.g. hysterectomy for uncontrollable hemorrhage) rendering a woman 'unconditionally infertile'. Current estimates are that in the USA, up to 7 million women with AUFI may be appropriate candidates for UTn. As a result of a first human attempt in 2000, investigators have responded with a plethora of publications demonstrating successful UTn attempts, including pregnancies, in various autogeneic, syngeneic and allogeneic animal models. Before UTn can become an accepted procedure, it must satisfy defined criteria for any surgical innovation, i.e. research background, field strength and institutional stability. Equally important, UTn must satisfy accepted bioethical principles (respect for autonomy, beneficence, non-maleficence and justice) and their application (informed consent, appropriate assessment of risk and benefit and fair selection of individuals). Furthermore, we believe that a defined number of transplants should not be exceeded worldwide without a successful term delivery, to minimize proceeding in futility using current techniques. Even if UTns were to become relatively common, the following research objectives should be continuously pursued: (i) additional pregnancies in a variety of large animal/primate models (to search for unanticipated consequences), (ii) continuous assessment of women diagnosed with AUFI regarding UTn, (iii) continuous assessment using 'borrowed' psychological tools from transplant centers, adoption agencies and assisted reproductive technology centers with potential recipients and (iv) continuous careful ethical reflection, assessment and approval.
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