223 research outputs found
Mechanical properties of a lap joint under uniform clamping pressure
Equations were derived for the load deflection relations, the energy dissipation per cycle, and the instantaneous rate of dissipation for a lap joint idealized as two overlapping plates clamped together under a uniform clamping pressure
A study on range gated temporal reference acoustical holography Final technical report
Acoustical holographic imaging techniques for noninvasive visualization of soft tissue structures in ma
First principles theory of chiral dichroism in electron microscopy applied to 3d ferromagnets
Recently it was demonstrated (Schattschneider et al., Nature 441 (2006),
486), that an analogue of the X-ray magnetic circular dichroism (XMCD)
experiment can be performed with the transmission electron microscope (TEM).
The new phenomenon has been named energy-loss magnetic chiral dichroism (EMCD).
In this work we present a detailed ab initio study of the chiral dichroism in
the Fe, Co and Ni transition elements. We discuss the methods used for the
simulations together with the validity and accuracy of the treatment, which
can, in principle, apply to any given crystalline specimen. The dependence of
the dichroic signal on the sample thickness, accuracy of the detector position
and the size of convergence and collection angles is calculated.Comment: 9 pages, 6 figures, submitted to Physical Review 
Highly selective CO2 vs. N2 adsorption in the cavity of a molecular coordination cage
Two M8L12 cubic coordination cages, as desolvated crystalline powders, preferentially adsorb CO2 over N2 with ideal selectivity CO2/N2 constants of 49 and 30 at 298 K. A binding site for CO2 is suggested by crystallographic location of CS2 within the cage cavity at an electropositive hydrogen-bond donor site, potentially explaining the high CO2/N2 selectivity compared to other materials with this level of porosity
Determination of ion density and temperature of a water-stabilised arc from observations of the line profiles of the hydrogen lines H beta and H gamma
NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency
CONTEXT:
Intronic DNA frequently encodes potential exonic sequences called pseudoexons. In recent years, mutations resulting in aberrant pseudoexon inclusion have been increasingly recognized to cause disease.
OBJECTIVES:
To find the genetic cause of familial glucocorticoid deficiency (FGD) in two siblings.
PATIENTS:
The proband and his affected sibling, from nonconsanguineous parents of East Asian and South African origin, were diagnosed with FGD at the ages of 21 and 8 months, respectively.
DESIGN:
Whole exome sequencing was performed on genomic DNA (gDNA) of the siblings. Variants in genes known to cause FGD were assessed for causality. Further analysis of gDNA and cDNA was performed by PCR/RT-PCR followed by automated Sanger sequencing.
RESULTS:
Whole exome sequencing identified a single, novel heterozygous variant (p.Arg71*) in nicotinamide nucleotide transhydrogenase (NNT) in both affected individuals. Follow-up cDNA analysis in the proband identified a 69-bp pseudoexon inclusion event, and Sanger sequencing of his gDNA identified a 4-bp duplication responsible for its activation. The variants segregated with the disease: p.Arg71* was inherited from the mother, the pseudoexon change was inherited from the father, and an unaffected sibling had inherited only the p.Arg71* variant.
CONCLUSIONS:
FGD in these siblings is caused by compound heterozygous mutations in NNT; one causing pseudoexon inclusion in combination with another leading to Arg71*. Discovery of this pseudoexon activation mutation highlights the importance of identifying sequence changes in introns by cDNA analysis. The clinical implications of these findings include: facilitation of antenatal genetic diagnosis, early institution of potentially lifesaving therapy, and the possibility of preventative or curative interventio
Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency
R P Dias is a Clinical Research Fellow funded by the Medical
Research Council
Mapping the internal recognition surface of an octanuclear coordination cage using guest libraries
Size and shape criteria for guest binding inside the cavity of an octanuclear cubic coordination cage in water have been established using a new fluorescence displacement assay to quantify guest binding. For aliphatic cyclic ketones of increasing size (from C5 to C11), there is a linear relationship between ΔG for guest binding and the guest’s surface area: the change in ΔG for binding is 0.3 kJ mol–1 Å–2, corresponding to 5 kJ mol–1 for each additional CH2 group in the guest, in good agreement with expectations based on hydrophobic desolvation. The highest association constant is K = 1.2 × 106 M–1 for cycloundecanone, whose volume is approximately 50% of the cavity volume; for larger C12 and C13 cyclic ketones, the association constant progressively decreases as the guests become too large. For a series of C10 aliphatic ketones differing in shape but not size, ΔG for guest binding showed no correlation with surface area. These guests are close to the volume limit of the cavity (cf. Rebek’s 55% rule), so the association constant is sensitive to shape complementarity, with small changes in guest structure resulting in large changes in binding affinity. The most flexible members of this series (linear aliphatic ketones) did not bind, whereas the more preorganized cyclic ketones all have association constants of 104–105 M–1. A crystal structure of the cage·cycloundecanone complex shows that the guest carbonyl oxygen is directed into a binding pocket defined by a convergent set of CH groups, which act as weak hydrogen-bond donors, and also shows close contacts between the exterior surface of the disc-shaped guest and the interior surface of the pseudospherical cage cavity despite the slight mismatch in shape
Thioredoxin Reductase 2 (TXNRD2) Variant As A Cause Of Micropenis, Undescended Testis And Selective Glucocorticoid Deficiency
GHR transcript heterogeneity may explain the phenotypic variability in patients with homozygous GHR pseudoexon (6 Psi) mutation
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