Assessment of gene-covariate interactions by incorporating covariates into association mapping

The HLA region is considered to be the main genetic risk factor for rheumatoid arthritis. Previous research demonstrated that HLA-DRB1 alleles encoding the shared epitope are specific for disease that is characterized by antibodies to cyclic citrullinated peptides (anti-CCP). In the present study, we incorporated the shared epitope and either anti-CCP antibodies or rheumatoid factor into linkage disequilibrium mapping, to assess the association between the shared epitope or antibodies with the disease gene identified. Incorporating the covariates into the association mapping provides a mechanism 1) to evaluate gene-gene and gene-environment interactions and 2) to dissect the pathways underlying disease induction/progress in quantitative antibodies

Polarization-independent liquid crystal phase modulator using a thin polymer-separated double-layered structure

A polarization-independent phase-only liquid crystal (LC) phase modulator using a double-layered structure is demonstrated. Two orthogonal LC layers are separated by two ultra-thin anisotropic polymer films. The anisotropic polymeric films not only separate the LC layers but also provide good molecular alignment. As a result, a polarization-independent phase modulator with 2 pi phase shift is achieved at 9V(rms) and 8.1 pi at 40V(rms) using a 12-mu m-thick E7 LC layers. This operating voltage is similar to 10X lower than that using a conventional 0.3-mm-thick glass separator

Electrically tunable wettability of liquid crystal/polymer composite films

An electrically tunable wettability in a liquid crystal/polymer composite film is demonstrated, in which liquid crystal molecules are anchored among polymer grains. The tunable wettability of the composite films originates from the reorientation of the anchored liquid-crystal molecules, which is switched by an in-plane electric field with squared pulses of voltages. These liquid crystal/polymer composite films with electrically tunable wettability have potential applications in polarizer-free displays, ink-jet printing, microfluidic devices, and lab-on-a-chip

INFLUENCE OF APPROACH SPEED AND DISTANCE ON BIOMECHANICS DURING SINGLE-LEGGED RUNNING VERTICAL JUMP

The purpose of this study was to look into the kinematics, kinetics and EMG of the single legged running vertical jumps in different approach speed and distance. 12 basketball player performed single-legged running vertical jumps with 2 approach speed and 3 distance randomly. Kinematic and Kinetic data were collected by a force and 11 infrared high speed cameras. EMG data were recorded by Delsys surface EMG system. Two-way repeated measures AMOVA (2 speeds x 3 distance) was used for establishing differences (significance level p< .05). The jump height, jumt moment of lower extremity, knee power and the activation of tibialis anterior and gastrocnemius were found significantly larger in fast approach speed. We suggested using fast approach speed and 9m approach distance to enhance the single-legged running vertical jump ability

Nicotinamide mononucleotide adenylyltransferase uses its NAD+ substrate-binding site to chaperone phosphorylated Tau.

Funder: Science and Technology Commission of Shanghai Municipality; FundRef: http://dx.doi.org/10.13039/501100003399Funder: Dr. John T. MacDonald Foundation; FundRef: http://dx.doi.org/10.13039/100010239Tau hyper-phosphorylation and deposition into neurofibrillary tangles have been found in brains of patients with Alzheimer's disease (AD) and other tauopathies. Molecular chaperones are involved in regulating the pathological aggregation of phosphorylated Tau (pTau) and modulating disease progression. Here, we report that nicotinamide mononucleotide adenylyltransferase (NMNAT), a well-known NAD+ synthase, serves as a chaperone of pTau to prevent its amyloid aggregation in vitro as well as mitigate its pathology in a fly tauopathy model. By combining NMR spectroscopy, crystallography, single-molecule and computational approaches, we revealed that NMNAT adopts its enzymatic pocket to specifically bind the phosphorylated sites of pTau, which can be competitively disrupted by the enzymatic substrates of NMNAT. Moreover, we found that NMNAT serves as a co-chaperone of Hsp90 for the specific recognition of pTau over Tau. Our work uncovers a dedicated chaperone of pTau and suggests NMNAT as a key node between NAD+ metabolism and Tau homeostasis in aging and neurodegeneration

Nernst effect of the new iron-based superconductor LaO1−x_{1-x}Fx_{x}FeAs

We report the first Nernst effect measurement on the new iron-based superconductor LaO$_{1-x}$F$_{x}$FeAs $(x=0.1)$. In the normal state, the Nernst signal is negative and very small. Below $T_{c}$ a large positive peak caused by vortex motion is observed. The flux flowing regime is quite large compared to conventional type-II superconductors. However, a clear deviation of the Nernst signal from normal state background and an anomalous depression of off-diagonal thermoelectric current in the normal state between $T_{c}$ and 50 K are observed. We propose that this anomaly in the normal state Nernst effect could correlate with the SDW fluctuations.Comment: 8 pages, 4 figures; Latex file changed, references adde

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

BACKGROUND: Spinal muscular atrophy (SMA) is the most common neuromuscular autosomal recessive disorder. The American College of Medical Genetics has recently recommended routine carrier screening for SMA because of the high carrier frequency (1 in 25-50) as well as the severity of that genetic disease. Large studies are needed to determine the feasibility, benefits, and costs of such a program. METHODS AND FINDINGS: This is a prospective population-based cohort study of 107,611 pregnant women from 25 counties in Taiwan conducted during the period January 2005 to June 2009. A three-stage screening program was used: (1) pregnant women were tested for SMA heterozygosity; (2) if the mother was determined to be heterozygous for SMA (carrier status), the paternal partner was then tested; (3) if both partners were SMA carriers, prenatal diagnostic testing was performed. During the study period, a total of 2,262 SMA carriers with one copy of the SMN1 gene were identified among the 107,611 pregnant women that were screened. The carrier rate was approximately 1 in 48 (2.10%). The negative predictive value of DHPLC coupled with MLPA was 99.87%. The combined method could detect approximately 94% of carriers because most of the cases resulted from a common single deletion event. In addition, 2,038 spouses were determined to be SMA carriers. Among those individuals, 47 couples were determined to be at high risk for having offspring with SMA. Prenatal diagnostic testing was performed in 43 pregnant women (91.49%) and SMA was diagnosed in 12 (27.91%) fetuses. The prevalence of SMA in our population was 1 in 8,968. CONCLUSION: The main benefit of SMA carrier screening is to reduce the burden associated with giving birth to an affected child. In this study, we determined the carrier frequency and genetic risk and provided carrier couples with genetic services, knowledge, and genetic counseling