1. |
|
|
2. |
- Chase, A., et al.
(author)
-
Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus
- 2015
-
In: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 29:10, s. 2069-2074
-
Journal article (peer-reviewed)abstract
- Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases with aUPD14q that defined a minimal affected region (MAR) of 11.2 Mb running from 14q32.12 to the telomere. Exome sequencing (n = 7) did not identify recurrently mutated genes, but methylation-specific PCR at the imprinted MEG3-DLK1 locus located within the MAR demonstrated loss of maternal chromosome 14 and gain of paternal chromosome 14 (P < 0.0001), with the degree of methylation imbalance correlating with the level of aUPD (r = 0.76; P = 0.0001). The absence of driver gene mutations in the exomes of three individuals with aUPD14q but no known haematological disorder suggests that aUPD14q may be sufficient to drive clonal haemopoiesis. Analysis of cases with both aUPD14q and JAK2 V617F (n = 11) indicated that aUPD14q may be an early event in some cases but a late event in others. We conclude that aUPD14q is a recurrent abnormality that targets an imprinted locus and may promote clonal haemopoiesis either as an initiating event or as a secondary change.
|
|
3. |
- Baust, A., et al.
(author)
-
Ultrastrong coupling in two-resonator circuit QED
- 2016
-
In: Physical Review B. - 2469-9969 .- 2469-9950. ; 93:21, s. Art. no. 214501-
-
Journal article (peer-reviewed)abstract
- We report on ultrastrong coupling between a superconducting flux qubit and a resonant mode of a system comprised of two superconducting coplanar stripline resonators coupled galvanically to the qubit. With a coupling strength as high as 17.5% of the mode frequency, exceeding that of previous circuit quantum electrodynamics experiments, we observe a pronounced Bloch-Siegert shift. The spectroscopic response of our multimode system reveals a clear breakdown of the Jaynes-Cummings approximation. In contrast to earlier experiments, the high coupling strength is achieved without making use of an additional inductance provided by a Josephson junction.
|
|
4. |
|
|
5. |
|
|
6. |
- Huss, Jessica C., et al.
(author)
-
Climate-Dependent Heat-Triggered Opening Mechanism of Banksia Seed Pods
- 2018
-
In: Advanced Science. - : Wiley. - 2198-3844. ; 5:1
-
Journal article (peer-reviewed)abstract
- Heat-triggered fruit opening and delayed release of mature seeds are widespread among plants in fire-prone ecosystems. Here, the material characteristics of the seed-containing follicles of Banksia attenuata (Proteaceae), which open in response to heat frequently caused by fire, are investigated. Material analysis reveals that long-term dimensional stability and opening temperatures of follicles collected across an environmental gradient increase as habitats become drier, hotter, and more fire prone. A gradual increase in the biaxial curvature of the hygroscopic valves provides the follicles in the driest region with the highest flexural rigidity. The irreversible deformation of the valves for opening is enabled via a temperature-dependent reduction of the elastic modulus of the innermost tissue layer, which then allows releasing the stresses previously generated by shrinkage of the fiber bundles in the adjacent layer during follicle drying. These findings illustrate the level of sophistication by which this species optimizes its fruit opening mechanism over a large distribution range with varying environmental conditions, and may not only have great relevance for developing biomimetic actuators, but also for elucidating the species' capacity to cope with climatic changes.
|
|