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- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 5. |
- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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| 8. |
- Baranasic, D, et al.
(författare)
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Multiomic atlas with functional stratification and developmental dynamics of zebrafish cis-regulatory elements
- 2022
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:7, s. 1037-
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Tidskriftsartikel (refereegranskat)abstract
- Zebrafish, a popular organism for studying embryonic development and for modeling human diseases, has so far lacked a systematic functional annotation program akin to those in other animal models. To address this, we formed the international DANIO-CODE consortium and created a central repository to store and process zebrafish developmental functional genomic data. Our data coordination center (https://danio-code.zfin.org) combines a total of 1,802 sets of unpublished and re-analyzed published genomic data, which we used to improve existing annotations and show its utility in experimental design. We identified over 140,000 cis-regulatory elements throughout development, including classes with distinct features dependent on their activity in time and space. We delineated the distinct distance topology and chromatin features between regulatory elements active during zygotic genome activation and those active during organogenesis. Finally, we matched regulatory elements and epigenomic landscapes between zebrafish and mouse and predicted functional relationships between them beyond sequence similarity, thus extending the utility of zebrafish developmental genomics to mammals.
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| 9. |
- Manzano-Nuñez, R., et al.
(författare)
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Use of REBOA in the universe of magical realism : A real-world review
- 2022
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Ingår i: Colombian Journal of Anesthesiology. - : Sociedad Colombiana de Anestesiologia y Reanimacion. - 2256-2087 .- 2422-0248. ; 50:1
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Forskningsöversikt (refereegranskat)abstract
- While reading the novella "Chronicle of a Death Foretold" by the Colombian Nobel Laureate Gabriel García-Marquez, we were surprised to realize that the injuries sustained by the main character could have been successfully treated had he received modern trauma care in which REBOA may have been considered. This is a discussion of Mr. Nasar's murder to explore whether he could have been saved by deploying REBOA as a surgical adjunct to bleeding control and resuscitation. In reading García-Marquez's novel we noted the events that unfolded at the time of Santiago Nasar's murder. To contextualize the claim that Mr. Nasar could have survived, had his injuries been treated with REBOA, we explored and illustrated what could have done differently and why. On the day of his death, Mr. Nasar sustained multiple penetrating stab wounds. Although he received multiple stab wounds to his torso, the book describes seven potentially fatal injuries, resulting in hollow viscus, solid viscus, and major vascular injuries. We provided a practical description of the clinical and surgical management algorithm we would have followed in Mr. Nasar's case. This algorithm included the REBOA deployment for hemorrhage control and resuscitation. The use of REBOA as part of the surgical procedures performed could have saved Mr. Nasar's life. Based on our current knowledge about REBOA in trauma surgery, we claim that its use, coupled with appropriate surgical care for hemorrhage control, could have saved Santiago Nasar's life, and thus prevent a death foretold. © 2022 Lippincott Williams and Wilkins. All rights reserved.
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| 10. |
- Reymbaut, A., et al.
(författare)
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Clinical Research with Advanced Diffusion Encoding Methods in MRI
- 2020
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Ingår i: Advanced Diffusion Encoding Methods in MRI. - Cambridge : Royal Society of Chemistry. - 2044-253X .- 2044-2548. ; 2020-January:24, s. 406-429
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Bokkapitel (refereegranskat)abstract
- This chapter offers a comprehensive summary of applications of advanced diffusion encoding methods in MRI within a narrowly defined area of in vivo human measurements with imaging read-out and voxel-by-voxel data analysis. The list of methods comprises tensor-valued encoding to investigate cell densities, shapes, and orientations in heterogeneous tissues, time/frequency-dependent encoding for estimating structural length scales, adjustable velocity-encoding to monitor flow in the microcapillary network, double encoding with varying mixing times to assess diffusional exchange between distinct tissue microenvironments and across cell membranes, and relaxation-diffusion correlation to resolve and separately characterize tissue microenvironments in terms of their local chemical composition and microstructure. The shown examples include proof-of-concept measurements on healthy volunteers, pilot investigations of pathologies, and clinical research involving 10-100 subjects. Studied organs include brain, breast, prostate, liver, kidney, placenta, muscle, and peripheral nerve, with examples of pathologies from tumors, schizophrenia, multiple sclerosis, stroke, neurocysticercosis, pre-eclampsia, and chronic exertional compartment syndrome.
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