| 1. |
|
|
| 2. |
- Jiao, Xiang, et al.
(författare)
-
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1
- 2017
-
Ingår i: Oncotarget. - : IMPACT JOURNALS LLC. - 1949-2553. ; 8:61, s. 102769-102782
-
Tidskriftsartikel (refereegranskat)abstract
- Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD > 2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.
|
|
| 3. |
- Rivano Eckerdal, Johanna, et al.
(författare)
-
Ett vatten stiger i mina ögon
- 2021
-
Ingår i: ETN : H2O - H2O. - 1653-1361. ; 10, s. 53-64
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- I denna text är fokus på Öresundsbron, en förbindelse över ett specifikt vatten som gett den sitt namn. Från att tidigare ha varit en trafikled för båtar blev det med förbindelsen, som även inkluderar en tunnel, möjligt att färdas mellan Danmark och Sverige med bil eller tåg. Jag vill förstå den ambivalens inför bron som framträder när den av skilda anledningar inte är farbar. Centralt är de starka känslor som då väcks. Läsaren inbjuds via de referenser till musikstycken som finns i texten att lyssna på dessa stycken under sin läsning. Min idé är att dessa konstnärliga uttryck i ord och ton ska förstärka textens innebörd och ge ytterligare en dimension till läsningen. Den röda, vindlande tråden jag följer är att sondera känslors konstruktiva kraft och potential.
|
|
| 4. |
- Stenman, Sebastian, et al.
(författare)
-
A deep learning-based algorithm for tall cell detection in papillary thyroid carcinoma
- 2022
-
Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 17:8
-
Tidskriftsartikel (refereegranskat)abstract
- Introduction:According to the World Health Organization, the tall cell variant (TCV) is an aggressive subtype of papillary thyroid carcinoma (PTC) comprising at least 30% epithelial cells two to three times as tall as they are wide. In practice, applying this definition is difficult causing substantial interobserver variability. We aimed to train a deep learning algorithm to detect and quantify the proportion of tall cells (TCs) in PTC.Methods: We trained the deep learning algorithm using supervised learning, testing it on an independent dataset, and further validating it on an independent set of 90 PTC samples from patients treated at the Hospital District of Helsinki and Uusimaa between 2003 and 2013. We compared the algorithm-based TC percentage to the independent scoring by a human investigator and how those scorings associated with disease outcomes. Additionally, we assessed the TC score in 71 local and distant tumor relapse samples from patients with aggressive disease.Results: In the test set, the deep learning algorithm detected TCs with a sensitivity of 93.7% and a specificity of 94.5%, whereas the sensitivity fell to 90.9% and specificity to 94.1% for non-TC areas. In the validation set, the deep learning algorithm TC scores correlated with a diminished relapse-free survival using cutoff points of 10% (p = 0.044), 20% (p < 0.01), and 30% (p = 0.036). The visually assessed TC score did not statistically significantly predict survival at any of the analyzed cutoff points. We observed no statistically significant difference in the TC score between primary tumors and relapse tumors determined by the deep learning algorithm or visually.Conclusions: We present a novel deep learning-based algorithm to detect tall cells, showing that a high deep learning-based TC score represents a statistically significant predictor of less favorable relapse-free survival in PTC.
|
|
| 5. |
- Winberg, Johanna, et al.
(författare)
-
Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
- 2010
-
Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 152A:9, s. 2277-2286
-
Tidskriftsartikel (refereegranskat)abstract
- Whole-body human chimerism is the result of two zygotes giving rise to one individual, and is a rarely detected condition. We have studied the molecular background and discuss the likely mechanism for the chimerism in a patient with a 46,XX/47,XY,+14 karyotype and ambiguous genitalia, cryptorchidism, pigment anomalies, and normal psychomotor development. We have used karyotyping, interphase-FISH and array-CGH analysis as well as molecular analysis of polymorphic markers from 48 loci in order to define the origin and percentage of 47,XY,+14 cells in different tissues. Based on the findings of two paternal alleles and the detection of homozygous maternal alleles without evidence of crossing-over, and the fact that four alleles were never detected, our results indicate that the chimerism in our patient is the result of dispermic fertilization of a parthenogenetically activated oocyte. Our report underlines that cytogenetic findings suggesting mosaicism might actually indicate chimerism as an underlying mechanism in patients. It also highlights the difficulties in predicting the clinical outcome in patients with genetic aberrations in mosaic or chimeric form.
|
|
| 6. |
|
|
| 7. |
- Arkani, Samara, et al.
(författare)
-
Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort
- 2018
-
Ingår i: Human genome variation. - : Springer Nature. - 2054-345X. ; 5:1
-
Tidskriftsartikel (refereegranskat)abstract
- Bladder exstrophy is a congenital closure defect of the urinary bladder with a profound effect on morbidity. Although the malformation is usually sporadic, a genetic background is supported by an increased recurrence risk in relatives, higher concordance rates in monozygotic twins and several associated chromosomal aberrations. Recently, the ISL1 gene was presented as a candidate gene for bladder exstrophy and epispadias complex (BEEC) development in two different studies. In our study, we screened for genetic variants in the ISL1 gene in DNA from 125 Swedish patients using Sanger sequencing and array-CGH analysis. In addition, we evaluated ISL1 expression in RNA of human bladder during embryonic and fetal weeks 5–10 relative to that in lung tissue (week 9). In total, 21 single-nucleotide variants were identified, including a potentially novel missense variant, c.137C>G p.(Ala46Gly), substituting a conserved amino acid. This variant was inherited from an unaffected mother. No structural variants were identified. RNA sequencing revealed ISL1 mRNA expression during the critical time frame of human bladder development. In conclusion, we did not detect any known or likely pathogenic variants in the ISL1 gene in 125 Swedish BEEC patients, indicating that variation in the ISL1 gene is not a common genetic mechanism of BEEC development in the Swedish population.
|
|
| 8. |
|
|
| 9. |
- Berglund, Karin, 1967-, et al.
(författare)
-
Engaged Sisters : studying the entrepreneurship and innovation support system from ‘within’
- 2013
-
Konferensbidrag (refereegranskat)abstract
- Entrepreneurship and innovation support has grown into large institutions in a society that cherishes an enterprising culture. Individuals are encouraged to be entrepreneurial and innovative in general, and to start up their own companies in particular. To support individuals in their business creation processes, policy stresses the need of providing with measures. Together these measures comprise a support system, directed towards supporting new and established entrepreneurs. It has however been recognized that the entrepreneurship and innovation public support system is highly gendered, favoring men and male businesses, whilst programs targeting women put the onus on individual women to start and grow businesses. As well it has been recognized that the policy support system tends to exclude ‘othered’ groups rather than including them in enterprising activities. The subtext of entrepreneurship support points to how some people “are” entrepreneurs, whilst others need support in order to become more entrepreneurial. Hence, there is a need to change the support system of entrepreneurship and innovation since it tends to disempower rather than to empower ‘othered’ groups in society.“Sisters in Business” make up an organization of wo/men entrepreneurs who have joined forces to address this need. Their vision is that entrepreneurship should reflect the society at large. During the last year they have therefore taken several initiatives to make this happen and is today one of the support organizations in a medium sized Swedish town. In this paper three Sisters are working together with a researcher within this area. Together we have formed a group of “engaged sisters´”. In our dialogue the dichotomy between ‘practice’ and ‘theory’ have temporarily dissolved in favor of creating narratives, from episodes, experiences and the everyday life of sister´s, to illustrate how the support system works from ‘within’. This led us to questioning whether the ‘support system’ really is a support system, or something else? Furthermore, this insight made it apparent that there exists ‘other’ support system, tough concealed and silenced. Finally, suggestions are proposed for how ‘practitioners’ can work together with ‘academics’ to change the rules of the game.
|
|
| 10. |
|
|
