| 1. |
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
- Isobe, T, et al.
(författare)
-
Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia
- 2022
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1, s. 4501-
-
Tidskriftsartikel (refereegranskat)abstract
- KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia. Our multi-omics clustering followed by single-sample and single-cell inference of hematopoietic differentiation establishes five robust integrative clusters (ICs) with different master transcription factors, fusion partners and corresponding stages of B-lymphopoietic and early hemato-endothelial development: IRX-type differentiated (IC1), IRX-type undifferentiated (IC2), HOXA-type MLLT1 (IC3), HOXA-type MLLT3 (IC4), and HOXA-type AFF1 (IC5). Importantly, our deep mutational analysis reveals that the number of RAS pathway mutations predicts prognosis and that the most refractory subgroup of IC2 possesses 100% frequency and the heaviest burden of RAS pathway mutations. Our findings highlight the previously under-appreciated intra- and inter-patient heterogeneity of KMT2A-rearranged infant ALL and provide a rationale for the future development of genomics-guided risk stratification and individualized therapy.
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Ochi, Y, et al.
(författare)
-
Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia
- 2021
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 2833-
-
Tidskriftsartikel (refereegranskat)abstract
- Blast crisis (BC) predicts dismal outcomes in patients with chronic myeloid leukaemia (CML). Although additional genetic alterations play a central role in BC, the landscape and prognostic impact of these alterations remain elusive. Here, we comprehensively investigate genetic abnormalities in 136 BC and 148 chronic phase (CP) samples obtained from 216 CML patients using exome and targeted sequencing. One or more genetic abnormalities are found in 126 (92.6%) out of the 136 BC patients, including the RUNX1-ETS2 fusion and NBEAL2 mutations. The number of genetic alterations increase during the transition from CP to BC, which is markedly suppressed by tyrosine kinase inhibitors (TKIs). The lineage of the BC and prior use of TKIs correlate with distinct molecular profiles. Notably, genetic alterations, rather than clinical variables, contribute to a better prediction of BC prognosis. In conclusion, genetic abnormalities can help predict clinical outcomes and can guide clinical decisions in CML.
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
- Powles, T, et al.
(författare)
-
Plain language summary of results from the JAVELIN Bladder 100 study: avelumab maintenance treatment for advanced urothelial cancer
- 2022
-
Ingår i: Future oncology (London, England). - : Future Medicine Ltd. - 1744-8301 .- 1479-6694. ; 18:19, s. 2361-2371
-
Tidskriftsartikel (refereegranskat)abstract
- This is a plain language summary of an article originally published in The New England Journal of Medicine. It is about initial results (collected in October 2019) from the JAVELIN Bladder 100 study (a clinical trial), which looked at avelumab maintenance treatment in people with advanced urothelial cancer. Urothelial cancer is the most common type of bladder cancer. People with advanced urothelial cancer often receive chemotherapy. If this is the first treatment people with advanced disease are given, it is called first-line treatment. If the cancer stops growing or shrinks with first-line chemotherapy, people can be given different treatment to try to prevent the cancer from growing again. This is called maintenance treatment. It may help people live longer. What happened in the JAVELIN Bladder 100 study? In the JAVELIN Bladder 100 study, researchers wanted to find out if maintenance treatment with avelumab would help people with advanced urothelial cancer live longer. Avelumab is a type of medicine called immunotherapy. Immunotherapy helps the body's immune system fight cancer. 700 people took part in the study. To take part, they must have already been treated with first-line chemotherapy. Also, their cancer must have shrunk or not grown with this treatment. They were then treated with either avelumab maintenance treatment plus best supportive care or best supportive care alone. Best supportive care means treatments that help improve symptoms and quality of life. These treatments do not affect the cancer directly and can include medicines to relieve pain. What were the results? Researchers found that people treated with avelumab maintenance treatment plus best supportive care lived, on average, 7 months longer than people who received best supportive care alone. People treated with avelumab had more side effects than those not treated with avelumab, but most were not severe. Common side effects with avelumab included persistent tiredness, itchy skin, urinary tract infection, and diarrhea. What do the results of the study mean? Results from the JAVELIN Bladder 100 study support the use of avelumab as maintenance treatment for people with advanced urothelial cancer whose cancer has shrunk or not grown with first-line chemotherapy. ClinicalTrials.gov NCT number: NCT02603432
|
|
| 15. |
- Shoji, Y., et al.
(författare)
-
An Element-Substituted Cyclobutadiene Exhibiting High-Energy Blue Phosphorescence
- 2021
-
Ingår i: Angewandte Chemie International Edition. - : John Wiley and Sons Inc. - 1433-7851 .- 1521-3773. ; 60:40, s. 21817-21823
-
Tidskriftsartikel (refereegranskat)abstract
- 1,3,2,4-Diazadiboretidine, an isoelectronic heteroanalogue of cyclobutadiene, is an interesting chemical species in terms of comparison with the carbon system, whereas its properties have never been investigated experimentally. According to Baird's rule, Hückel antiaromatic cyclobutadiene acquires aromaticity in the lowest triplet state. Here we report experimental and theoretical studies on the ground- and excited-state antiaromaticity/aromaticity as well as the photophysical properties of an isolable 1,3,2,4-diazadiboretidine derivative. The crystal structure of the diazadiboretidine derivative revealed that the B2N2 ring adopts a planar rhombic geometry in the ground state. Yet, theoretical calculations showed that the B2N2 ring turns to a square geometry with a nonaromatic character in the lowest triplet state. Notably, the diazadiboretidine derivative has the lowest singlet and triplet states lying at close energy levels and displays blue phosphorescence.
|
|
| 16. |
|
|
| 17. |
- Oyama, S., et al.
(författare)
-
An Ephemeral Red Arc Appeared at 68 degrees MLat at a Pseudo Breakup During Geomagnetically Quiet Conditions
- 2020
-
Ingår i: Journal of Geophysical Research - Space Physics. - : American Geophysical Union (AGU). - 2169-9380 .- 2169-9402. ; 125:10
-
Tidskriftsartikel (refereegranskat)abstract
- Various subauroral optical features have been studied by analyzing data collected during periods of geomagnetic disturbances. Most events have been typically found at geomagnetic latitudes of 45-60 degrees. In this study, however, we present a red arc event found at geomagnetic 68 degrees north (L approximate to 7.1) in the Scandinavian sector during a period of geomagnetically quiet conditions within a short intermission between two high-speed solar wind events. The red arc appeared to coincide with a pseudo breakup at geomagnetic 71-72 degrees N and a rapid equatorward expansion of the polar cap. However, the red arc disappeared in approximately 7 min. Simultaneous measurements with the Swarm A/C satellites indicated the appearance of the red arc at the ionospheric trough minimum and a conspicuous enhancement of the electron temperature, suggesting the generation of the arc by heat flux. Since there are meaningful differences in the red arc features from already-known subauroral optical features such as the stable auroral red (SAR) arc, we considered that the red arc is a new phenomenon. We suggest that the ephemeral red arc may represent the moment of SAR arc birth associated with substorm particle injection, which is generally masked by bright dynamic aurorae.
|
|
| 18. |
- Roth, Lorenz, et al.
(författare)
-
Constraints on Europa's Water Group Torus from HST/COS Observations
- 2023
-
Ingår i: The Planetary Science Journal. - : American Astronomical Society. - 2632-3338. ; 4:5
-
Tidskriftsartikel (refereegranskat)abstract
- In situ plasma measurements as well as remote mapping of energetic neutral atoms around Jupiter provide indirect evidence that an enhancement of neutral gas is present near the orbit of the moon Europa. Simulations suggest that such a neutral gas torus can be sustained by escape from Europa's atmosphere and consists primarily of molecular hydrogen, but the neutral gas torus has not yet been measured directly through emissions or in situ. Here we present observations by the Cosmic Origins Spectrograph (COS) of the Hubble Space Telescope (HST) from 2020 to 2021, which scanned the equatorial plane between 8 and 10 planetary radii west of Jupiter. No neutral gas emissions are detected. We derive upper limits on the emissions and compare these to modeled emissions from electron impact and resonant scattering using a Europa torus Monte Carlo model for the neutral gases. The comparison supports the previous findings that the torus is dilute and primarily consists of molecular hydrogen. A detection of sulfur ion emissions radially inward of the Europa orbit is consistent with emissions from the extended Io torus and with sulfur ion fractional abundances as previously detected.
|
|
| 19. |
- Tiemeyer, Michael, et al.
(författare)
-
GlyTouCan: an accessible glycan structure repository.
- 2017
-
Ingår i: Glycobiology. - : Oxford University Press (OUP). - 1460-2423 .- 0959-6658. ; 27:10, s. 915-919
-
Tidskriftsartikel (refereegranskat)abstract
- Rapid and continued growth in the generation of glycomic data has revealed the need for enhanced development of basic infrastructure for presenting and interpreting these datasets in a manner that engages the broader biomedical research community. Early in their growth, the genomic and proteomic fields implemented mechanisms for assigning unique gene and protein identifiers that were essential for organizing data presentation and for enhancing bioinformatic approaches to extracting knowledge. Similar unique identifiers are currently absent from glycomic data. In order to facilitate continued growth and expanded accessibility of glycomic data, the authors strongly encourage the glycomics community to coordinate the submission of their glycan structures to the GlyTouCan Repository and to make use of GlyTouCan identifiers in their communications and publications. The authors also deeply encourage journals to recommend a submission workflow in which submitted publications utilize GlyTouCan identifiers as a standard reference for explicitly describing glycan structures cited in manuscripts.
|
|
| 20. |
- Tsuchiya, Takafumi, et al.
(författare)
-
Association of the calpain-10 gene with type 2 diabetes in Europeans: Results of pooled and meta-analyses
- 2006
-
Ingår i: Molecular Genetics and Metabolism. - : Elsevier BV. - 1096-7192. ; 89:1-2, s. 174-184
-
Tidskriftsartikel (refereegranskat)abstract
- We conducted pooled and meta-analyses of the association of the calpain-10 gene (CAPN10) polymorphisms SNP-43, Indel-19 and SNP-63 individually and as haplotypes with type 2 diabetes (T2D) in 3237 patients and 2935 controls of European ancestry. In the pooled analyses, the common SNP-43*G allele was associated with modest but statistically significant increased risk of T2D (odds ratio (OR) = 1.11 (95% confidence interval (0), 1.02-1.20), P = 0.01). Two haplotype combinations were associated with increased risk of T2D) (1-2-1/1-2-1, OR = 1.20 (1.03-1.41), P = 0.02; and 1-1-2/1-2-1, OR = 1.26 (1.01-1.59), P = 0.04) and one with decreased risk (1-1-1/2-2-1, OR = 0.86 (0.75-0.99), P = 0.03). The meta-analysis also showed a significant effect of the 1-2-1/1-2-1 haplogenotype on risk (OR = 1.25 (1.05-1.50), P = 0.01). However, there was evidence for heterogeneity with respect to this effect (P = 0.06). The heterogeneity appeared to be due to data sets in which the cases were selected from samples used in linkage studies of T2D. Using only the population-based case-control samples removed the heterogeneity (P = 0.89) and strengthened the evidence for association with T2D) in both the pooled (SNP-43*G, OR = 1.19 (1.07-1.32), P = 0.001; 1-2-1/1-2-1 haplogenotype, OR = 1.46 (1.19-1.78), P = 0.0003; 1-1-2/1-2-1 haplogenotype, OR = 1.52 (1.12-2.06), P = 0.007; and 1-1-1/2-2-1 haplogenotype, OR = 0.83 (0.70-0.99), P = 0.03) and the meta-analysis (SNP-43*G, OR = 1.18 (1.05-1.32), P = 0.005; 1-2-1/1-2-1 haplogenotype, OR = 1.68 (1.33-2.11), P = 0.00001). The pooled and meta-analyses as well as the linkage disequilibrium and haplotype diversity studies suggest a role for genetic variation in CAPN10 affecting risk of T2D in Europeans. (c) 2006 Elsevier Inc. All rights reserved.
|
|
| 21. |
- Tsuchiya, Takao, et al.
(författare)
-
Improving the lightfastness and thermal stability of black urushi (oriental lacquer) by kraft lignin oleate
- 2023
-
Ingår i: Journal of Wood Science. - 1435-0211 .- 1611-4663. ; 69:1
-
Tidskriftsartikel (refereegranskat)abstract
- Urushi, an oriental lacquer, is sensitive to light and easily deteriorates upon light exposure, leading to the fading and loss of gloss of its coatings. In this study, we attempted to improve the lightfastness of black urushi by utilizing the UV-absorbing properties of kraft lignin. Oleic acid-esterified kraft lignin was prepared and added to the black urushi to improve the compatibility. No aggregation of oleic acid-esterified lignin occurred in the black urushi, and the physical properties of the films were maintained to a large extent. A possible chemical interaction between lignin and black urushi was suggested upon thermal analysis. It was also found that the addition of lignin improved the thermal dimensional stability of black urushi. Finally, the high gloss factor of the black urushi film was maintained by adding oleic acid-esterified lignin after 168 h of light irradiation. Oleic acid-esterified lignin therefore appears as a promising functional additive to improve photostability of urushi coatings.
|
|
