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Results: 404
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
Danny E Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Takada-Watanabe, Minoru Takemoto, George M Martin, Evan E Eichler, Fuki M Hisama, Junko Oshima
May 11, 2022
BACKGROUND: Werner syndrome (WS) is an autosomal recessive progeroid syndrome caused by variants in WRN. The International Registry of Werner Syndrome has identified biallelic pathogenic variants in 179/188 cases of classical...
Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes.
Werner Syndrome (WS) and Bloom Syndrome (BS) are disorders of DNA damage repair caused by biallelic disruption of the WRN or BLM DNA helicases respectively. Both are commonly associated with insulin resistant diabetes, usually...
Monographs of the RIMR. Vol. 13, 1920
The Rockefeller University
Jan 01, 0001
The Early Stages of Tabanidae (Horse-flies) by Werner Marchand
Published by: The Rockefeller Institute for Medical Research
Time Propagation and Spectroscopy of Fermionic Systems Using a Stochastic Technique.
We present a stochastic method for solving the time-dependent Schrödinger equation, generalizing a ground state full configuration interaction quantum Monte Carlo method. By performing the time integration in the complex plane...
A hidden Markov model for describing turbostratic disorder applied to carbon blacks and graphene
A mathematical framework is presented to represent turbostratic disorder in materials like carbon blacks, smectites and twisted n-layer graphene. In particular, the set of all possible disordered layers, including rotated...
Carbon blacks hidden Markov model Scattering cross sections Turbostratic disorder /dk/atira/pure/subjectarea/asjc/1300/1315 name=Structural Biology /dk/atira/pure/subjectarea/asjc/1300/1303 name=Biochemistry /dk/atira/pure/subjectarea/asjc/2500/2500 name=General Materials Science /dk/atira/pure/subjectarea/asjc/3100/3104 name=Condensed Matter Physics /dk/atira/pure/subjectarea/asjc/1600/1606 name=Physical and Theoretical Chemistry /dk/atira/pure/subjectarea/asjc/1600/1604 name=Inorganic Chemistry
A hidden Markov model for describing turbostratic disorder applied to carbon blacks and graphene
A mathematical framework is presented to represent turbostratic disorder in materials like carbon blacks, smectites and twisted n-layer graphene. In particular, the set of all possible disordered layers, including rotated...
Carbon blacks hidden Markov model Scattering cross sections Turbostratic disorder /dk/atira/pure/subjectarea/asjc/1300/1315 name=Structural Biology /dk/atira/pure/subjectarea/asjc/1300/1303 name=Biochemistry /dk/atira/pure/subjectarea/asjc/2500/2500 name=General Materials Science /dk/atira/pure/subjectarea/asjc/3100/3104 name=Condensed Matter Physics /dk/atira/pure/subjectarea/asjc/1600/1606 name=Physical and Theoretical Chemistry /dk/atira/pure/subjectarea/asjc/1600/1604 name=Inorganic Chemistry
Resolution of Low-Energy States in Spin-Exchange Transition-Metal Clusters
Polynuclear transition-metal (PNTM) clusters owe their catalytic activity to numerous energetically low-lying spin states and stable oxidation states. The characterization of their electronic structure represents one of the...
Linguistic Distances in Dialectometric Intensity Estimation
Dialectometric intensity estimation as introduced in Rumpf etal. (2009) and Pickl and Rumpf (2011, 2012) is a method for the unsupervised generation of maps visualizing geolinguistic data on the level of linguistic...
Hareth Al-Janabi, Job Van Exel, Werner Brouwer, Caroline Trotter, Linda Glennie, Laurie Hannigan, Joanna Coast
Sep 21, 2015
Connection probabilities for conformal loop ensembles
The goal of the present paper is to explain, based on properties of the conformal loop ensembles $\CLE_\kappa$ (both with simple and non-simple loops, i.e., for the whole range $\kappa \in (8/3, 8)$) how to derive the connection...
Preferential binding of unsaturated hydrocarbons in aryl-bisimidazolium·cucurbit[8]uril complexes furbishes evidence for small-molecule π-π interactions.
Whilst cucurbit[n]urils (CBn) have been utilized in gas encapsulation, only the smaller CBn (n = 5 and 6) have utility given their small cavity size. In this work, we demonstrate that the large cavity of CB8 can be tailored for...
Published by: Chemical science
Novel Single-Site Device for Conjoined Glucose Sensing and Insulin Infusion
Mathias Tschaikner, Kevin Powell, Miro Jungklaus, Martin Fritz, Martin Ellmerer, Roman Hovorka, Steve Lane, Thomas R Pieber, Werner Regittnig
Jul 01, 2019
OBJECTIVE: This study evaluated a novel diabetes treatment device that combines commercially available continuous glucose monitoring and insulin infusion technology in such a way as to perform insulin delivery and glucose...
T cell stimulator cells, an efficient and versatile cellular system to assess the role of costimulatory ligands in the activation of human T cells.
Judith Leitner, Werner Kuschei, Katharina Grabmeier-Pfistershammer, Ramona Woitek, Ernst Kriehuber, Otto Majdic, Gerhard Zlabinger, Winfried F Pickl, Peter Steinberger
Jan 02, 2019
It is well established that full activation of T cells requires the interaction of the TCR complex with the peptide-MHC complex (Signal 1) and additional signals (Signal 2). These second signals are generated by the interaction...
Animals Antibodies Antigens CD Biological Assay Cell Line Tumor Humans Immunologic Factors Lymphocyte Activation Major Histocompatibility Complex Mice Peptides Receptor-CD3 Complex Antigen T-Cell Receptors Cell Surface Signaling Lymphocytic Activation Molecule Family Member 1 T-Lymphocytes Tumor Necrosis Factor Ligand Superfamily Member 15
Evasive lying in strategic communication
Information asymmetries in economic transactions are omnipresent and a regular source of fraudulent behavior. In a theoretical and an experimental analysis of a sender-receiver game we investigate whether sanctions for lying...
Surprising gifts
People do not only feel guilt from not living up to others' expectations (Battigalli and Dufwenberg, 2007), but may also like to exceed them. We propose a model that generalizes the guilt aversion model to capture the...
Look together
Yanxia Zhang, Ken Pfeuffer, Ming Ki Chong, Jason Mark Alexander, Andreas Bulling, Hans-Werner Georg Gellersen
Feb 01, 2017
Gaze information provides indication of users focus which complements remote collaboration tasks, as distant users can see their partner’s focus. In this paper, we apply gaze for co-located collaboration, where users’ gaze...
Stable windings at the origin
In 1996, Bertoin and Werner demonstrated a functional limit theorem, characterising the windings of planar isotropic stable processes around the origin for large times, thereby complementing known results for planar Brownian...
duality Lamperti transform Riesz–Bogdan–Żak transform self-similarity stable processes Time change Upcrossings Winding numbers /dk/atira/pure/subjectarea/asjc/2600/2613 name=Statistics and Probability /dk/atira/pure/subjectarea/asjc/2600/2611 name=Modelling and Simulation /dk/atira/pure/subjectarea/asjc/2600/2604 name=Applied Mathematics
Detecting positive quantum capacities of quantum channels
Using elementary techniques from analytic perturbation theory of Hermitian
matrices, we devise a simple strategy to detect positive quantum capacities of
quantum channels and their complements. Several noteworthy examples, such...
Look together
Yanxia Zhang, Ken Pfeuffer, Ming Ki Chong, Jason Mark Alexander, Andreas Bulling, Hans-Werner Georg Gellersen
Feb 01, 2017
Gaze information provides indication of users focus which complements remote collaboration tasks, as distant users can see their partner’s focus. In this paper, we apply gaze for co-located collaboration, where users’ gaze...
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