Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis complex. Case presentation: We describe the clinical characteristics of patients from a Chinese family with tuberous sclerosis complex and analyze the functional consequences of their causal genetic mutations. A novel heterozygous mutation (c.3610G > A) at the last nucleotide of exon 29 in TSC2 was identified. On the protein level, this variant was presumed to be a missense mutation (p.Gly1204Arg). However, the splicing assay revealed that this mutation also leads to the whole TSC2 exon 29 skipping, besides the wild-type transcript. The mutated transcript results in an in-frame deletion of 71 amino acids (p.Gly1133_Thr1203del) and its ratio with the normal splice product is of about 44:56. Conclusions: The novel c.3610G > A TSC2 mutation was identified in association with tuberous sclerosis complex. And it was proven to code both for a missense-carrying transcript (56%), and for an isoform lacking exon 29 (44%)

The Expression and Roles of Nde1 and Ndel1 in the Adult Mammalian Central Nervous System

Open Access funded by Wellcome Trust Under a Creative Commons license Acknowledgments We thank Prof Angelo Sementilli, Department of Pathology, Universidade Metropolitana de Santos, SP, Brazil, for the human sample collection. This study is funded by Scottish Universities Life Sciences Alliance (HR07019 to S. Shen and C.D. McCaig), Medical Research Scotland (384 FRG to B. Lang, United Kingdom), Tenovus Scotland (G12/25 to B. Lang), Sino-UK Higher Education Research Partnership for PhD Studies (C.D. McCaig and Y.Q. Ding) and Wellcome Trust (WT081633MA-NCE to P.J.A. McCaffery, United Kingdom).Peer reviewedPublisher PD

Plant Homeo Domain Finger Protein 8 Regulates Mesodermal and Cardiac Differentiation of Embryonic Stem Cells Through Mediating the Histone Demethylation of pmaip1

published_or_final_versio

Hysteretic behaviour of uniaxially thermoformed auxetic foams under 3-point bending low-frequency vibration

The work describes experiments and models related to auxetic (negative Poisson’s ratio) foams subjected to low-frequency and variable amplitude 3-point bending loading. A custom 3-point bending vibration test rig is designed and used to perform the dynamic test of auxetic PU foam beams within low-frequency range (1–20 Hz) and 5 different displacement amplitudes. The auxetic foams tested in this work are manufactured using a simplified and relatively low-cost uniaxially thermoforming compression technique, which leads to the production of foams with transverse isotropic characteristics. Auxetic foam beam samples with two different cutting orientations and different thermoforming compression ratios rc (20–80%) are tested and compared, also with the use of theoretical Euler–Bernoulli-based and finite element models. The dynamic modulus of the foams increases with rc, ranging between 0.5 and 5 MPa, while the dynamic loss factor is marginally affected by the compression ratio, with overall values between 0.2 and 0.3. The auxetic PU foam has a noticeable amplitude-dependent stiffness and loss factors, while the dynamic modulus increases but slightly decreases with the frequency. The dynamic modulus is also 20–40% larger than the quasi-static one, while the dynamic and static loss factors are quite close. A modified Bouc–Wen model is also further developed to capture the amplitude and frequency-dependent properties of the conventional and auxetic foams with different volumetric compression ratios. The model shows a good agreement with the experimental results

Large enhancement of the thermopower in Nax_xCoO2_2 at high Na doping

Research on the oxide perovskites has uncovered electronic properties that are strikingly enhanced compared with those in conventional metals. Examples are the high critical temperatures of the cuprate superconductors and the colossal magnetoresistance in the manganites. The conducting layered cobaltate $\rm Na_xCoO_2$ displays several interesting electronic phases as $x$ is varied including water-induced superconductivity and an insulating state that is destroyed by field. Initial measurements showed that, in the as-grown composition, $\rm Na_xCoO_2$ displays moderately large thermopower $S$ and conductivity $\sigma$. However, the prospects for thermoelectric cooling applications faded when the figure of merit $Z$ was found to be small at this composition (0.6$<x<$0.7). Here we report that, in the poorly-explored high-doping region $x>$0.75, $S$ undergoes an even steeper enhancement. At the critical doping $x_p\sim$ 0.85, $Z$ (at 80 K) reaches values $\sim$40 times larger than in the as-grown crystals. We discuss prospects for low-temperature thermoelectric applications.Comment: 6 pages, 7 figure

Reentrant charge ordering caused by polaron formation

Based on a two-dimensional extended Hubbard model with electron-phonon interaction, we have studied the effect of polaron formation on the charge ordering (CO) transition. It is found that for fully ferromagnetically ordered spins the CO state may go through a process of appearance, collapse and reappearance with decreasing temperature. This is entirely due to a emperature-dependent polaron bandwidth. On the other hand, when a paramagnetic spin state is considered, only a simple reentrant behavior of the CO transition is found, which is only partly due to polaron effect. This model is proposed as an explanation of the observed reentrant behavior of the CO transition in the layered manganite LaSr$_2$Mn$_2$O$_7$.Comment: 4 pages, 2 eps figures, revised version accepted by Phys. Rev. Let

Theory of Bi2_2Sr2_2CaCu2_2O8+δ_{8+\delta} Cross-Whisker Josephson Junctions

Takano {\it et al.} [Phys. Rev. B {\bf 65}, 140513 (2002) and unpublished] made Josephson junctions from single crystal whiskers of Bi$_2$Sr$_2$CaCu$_2$O$_{8+\delta}$ crossed an angle $\phi_0$ about the $c$ axis. From the mesa structures that formed at the cross-whisker interface, they inferred a critical current density $J_c(\phi_0)$. Like the single crystal results of Li {\it et al.} [Phys. Rev. Lett. {\bf 83}, 4160 (1999)], we show that the whisker data are unlikely to result from a predominantly d-wave order parameter. However, unlike the single crystals, these results, if correct, require the whisker c-axis transport to be coherent.Comment: 5 pages, 4 figures, accepted for publication in Physical Review

Superconducting Fluctuation and Pseudogap in Disordered Short Coherence Length Superconductor

We investigate the role of disorder on the superconducting (SC) fluctuation in short coherence length d-wave superconductors. The particular intetest is focused on the disorder-induced microscopic inhomogeneity of SC fluctuation and its effect on the pseudogap phenomena. We formulate the self-consistent 1-loop order theory for the SC fluctuation in inhomogeneous systems and analyze the disordered $t$-$t'$-$V$ model. The SC correlation function, electronic DOS and the critical temperature are estimated. The SC fluctuation is localized like a nanoscale granular structure when the coherence length is short, namely the transition temperature is high. This is contrasted to the long coherence length superconductors where the order parameter is almost uniform in the microscopic scale. In the former case, the SC fluctuation is enhanced by the disorder in contrast to the Abrikosov-Gorkov theory. These results are consistent with the STM, NMR and transport measurements in high-$T_{\rm c}$ cuprates and illuminate the essential role of the microscopic inhomogeneity. We calculate the spacial dependence of DOS around the single impurity and discuss the consistency with the NMR measurements

Design and analysis of fractional factorial experiments from the viewpoint of computational algebraic statistics

We give an expository review of applications of computational algebraic statistics to design and analysis of fractional factorial experiments based on our recent works. For the purpose of design, the techniques of Gr\"obner bases and indicator functions allow us to treat fractional factorial designs without distinction between regular designs and non-regular designs. For the purpose of analysis of data from fractional factorial designs, the techniques of Markov bases allow us to handle discrete observations. Thus the approach of computational algebraic statistics greatly enlarges the scope of fractional factorial designs.Comment: 16 page