87 research outputs found

    A genome-wide DNA methylation signature for SETD1B-related syndrome

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    SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in the SETD1B gene which may be used as an epigenetic marker supporting the diagnosis of syndromic SETD1B-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identified SETD1B VUS (variant of uncertain significance) in two patients

    Kinematische Analyse eines Parallelmechanismus zur automatisierten Bildgebung von Organ-on-a-Chip Kulturen

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    Organ-on-a-Chip approach makes it possible to produce vascularized organoids for pre-clinical drug studies using incubators and rockers. Automation of organoids generation is desirable to reduce human resources and increase reproducibility. However, automation requires information such as the growth status of the organoids to be recorded directly within the incubator. Hereby, avoiding regular incubator opening by including an autonomous planar parallel robotic imaging system will prevent disturbing the organoids’ growth. To avoid rotations of the miniature microscope while inspecting the different organoids-on-a-chip in the constrained incubator space, the parallel robot is constrained to two translational DoFs. Here, we present the kinematic design of the robot that fulfils the workspace requirements and space constraints inside the incubator

    Probing macroscopic quantum superpositions with nanorotors

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    Whether quantum physics is universally valid is an open question with far-reaching implications. Intense research is therefore invested into testing the quantum superposition principle with ever heavier and more complex objects. Here we propose a radically new, experimentally viable route towards studies at the quantum-to-classical borderline by probing the orientational quantum revivals of a nanoscale rigid rotor. The proposed interference experiment testifies a macroscopic superposition of all possible orientations. It requires no diffraction grating, uses only a single levitated particle, and works with moderate motional temperatures under realistic environmental conditions. The first exploitation of quantum rotations of a massive object opens the door to new tests of quantum physics with submicron particles and to quantum gyroscopic torque sensors, holding the potential to improve state-of-the-art devices by many orders of magnitude.© 2018 The Author(s

    Optically driven ultra-stable nanomechanical rotor

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    Nanomechanical devices have attracted the interest of a growing interdisciplinary research community, since they can be used as highly sensitive transducers for various physical quantities. Exquisite control over these systems facilitates experiments on the foundations of physics. Here, we demonstrate that an optically trapped silicon nanorod, set into rotation at MHz frequencies, can be locked to an external clock, transducing the properties of the time standard to the rod’s motion with a remarkable frequency stability f r/Δf r of 7.7 × 1011. While the dynamics of this periodically driven rotor generally can be chaotic, we derive and verify that stable limit cycles exist over a surprisingly wide parameter range. This robustness should enable, in principle, measurements of external torques with sensitivities better than 0.25 zNm, even at room temperature. We show that in a dilute gas, real-time phase measurements on the locked nanorod transduce pressure values with a sensitivity of 0.3%.© The Author(s) 201

    CCDC 893203: Experimental Crystal Structure Determination

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    Related Article: Julia Intemann, Jan Spielmann, Peter Sirsch, Sjoerd Harder|2013|Chem.-Eur.J.|19|8478|doi:10.1002/chem.201300684,An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.

    Full rotational control of levitated silicon nanorods

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    Optically levitated nano-objects in vacuum are among the highest quality mechanical oscillators, and thus of great interest for force sensing, cavity quantum optomechanics, and nanothermodynamic studies. These precision applications require exquisite control. Here, we present full control over the rotational and translational dynamics of an optically levitated silicon nanorod. We trap its center-of-mass and align it along the linear polarization of the laser field. The rod can be set into rotation at a predefined frequency by exploiting the radiation pressure exerted by elliptically polarized light. The rotational motion of the rod dynamically modifies the optical potential, which allows tuning of the rotational frequency over hundreds of kilohertz. Through nanofabrication, we can tailor all of the trapping frequencies and the optical torque, achieving reproducible dynamics that are stable over months, and analytically predict the motion with great accuracy. This first demonstration of full ro-translational control of nanoparticles in vacuum opens up the fields of rotational optomechanics, rotational ground state cooling, and the study of rotational thermodynamics in the underdamped regime.© 2017 Optical Society of Americ

    2D Material Science: Defect Engineering by Particle Irradiation

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    Two-dimensional (2D) materials are at the heart of many novel devices due to their unique and often superior properties. For simplicity, 2D materials are often assumed to exist in their text-book form, i.e., as an ideal solid with no imperfections. However, defects are ubiquitous in macroscopic samples and play an important – if not imperative – role for the performance of any device. Thus, many independent studies have targeted the artificial introduction of defects into 2D materials by particle irradiation. In our view it would be beneficial to develop general defect engineering strategies for 2D materials based on a thorough understanding of the defect creation mechanisms, which may significantly vary from the ones relevant for 3D materials. This paper reviews the state-of-the-art in defect engineering of 2D materials by electron and ion irradiation with a clear focus on defect creation on the atomic scale and by individual impacts. Whenever possible we compile reported experimental data alongside corresponding theoretical studies. We show that, on the one hand, defect engineering by particle irradiation covers a wide range of defect types that can be fabricated with great precision in the most commonly investigated 2D materials. On the other hand, gaining a complete understanding still remains a challenge, that can be met by combining advanced theoretical methods and improved experimental set-ups, both of which only now begin to emerge. In conjunction with novel 2D materials, this challenge promises attractive future opportunities for researchers in this field.© 2018 by the author
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