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- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 5. |
- Chetaille, Philippe, et al.
(författare)
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Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:11, s. 1245-1249
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Tidskriftsartikel (refereegranskat)abstract
- The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome. Cultured dermal fibroblasts from affected individuals showed accelerated cell cycle progression, a higher rate of senescence and enhanced activation of TGF-beta signaling. Karyotypes showed the typical railroad appearance of a centromeric cohesion defect. Tissues derived from affected individuals displayed pathological changes in both the enteric nervous system and smooth muscle. Morpholino-induced knockdown of sgol1 in zebrafish recapitulated the abnormalities seen in humans with CAID syndrome. Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.
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| 6. |
- Raitoharju, M., et al.
(författare)
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Gaussian mixture models for signal mapping and positioning
- 2020
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Ingår i: Signal Processing. - : ELSEVIER. - 0165-1684 .- 1872-7557. ; 168
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Tidskriftsartikel (refereegranskat)abstract
- Maps of RSS from a wireless transmitter can be used for positioning or for planning wireless infrastructure. The RSS values measured at a single point are not always the same, but follow some distribution, which vary from point to point. In existing approaches in the literature this variation is neglected or its mapping requires making many measurements at every point, which makes the measurement collection very laborious. We propose to use GMs for modeling joint distributions of the position and the RSS value. The proposed model is more versatile than methods found in the literature as it models the joint distribution of RSS measurements and the location space. This allows us to model the distributions of RSS values in every point of space without making many measurement in every point. In addition, GMs allow us to compute conditional probabilities and posteriors of position in closed form. The proposed models can model any RSS attenuation pattern, which is useful for positioning in multifloor buildings. Our tests with WLAN signals show that positioning with the proposed algorithm provides accurate position estimates. We conclude that the proposed algorithm can provide useful information about distributions of RSS values for different applications. (C) 2019 Elsevier B.V. All rights reserved.
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