Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair

The genetic determinants of hair texture in humans are largely unknown. Several human syndromes exist in which woolly hair comprises a part of the phenotype; however, simple autosomal recessive inheritance of isolated woolly hair has only rarely been reported. To identify a gene involved in controlling hair texture, we performed genetic linkage analysis in six families of Pakistani origin with autosomal recessive woolly hair (ARWH; OMIM 278150). All six families showed linkage to chromosome 13q14.2-14.3 (Z = 17.97). In all cases, we discovered pathogenic mutations in P2RY5, which encodes a G protein-coupled receptor and is a nested gene residing within intron 17 of the retinoblastoma 1 (RB1) gene. P2RY5 is expressed in both Henle's and Huxley's layers of the inner root sheath of the hair follicle. Our findings indicate that disruption of P2RY5 underlies ARWH and, more broadly, uncover a new gene involved in determining hair texture in humans.     

Forced Oscillations of a Class of Nonlinear Dispersive Wave Equations and their Stability

It has been observed in laboratory experiments that when nonlinear dispersive waves are forced periodically from one end of undisturbed stretch of the medium of propagation, the signal eventually becomes temporally periodic at each spatial point. The observation has been confirmed mathematically in the context of the damped Korteweg-de Vries （KdV） equation and the damped Benjamin-Bona-Mahony （BBM） equation. In this paper we intend to show the same results hold for the pure KdV equation （without the damping terms） posed on a finite domain. Consideration is given to the initial-boundary-value problem {ut＋ux＋uux＋uxxx=0, u（x,0）=φ（x）, 0〈x〈1, t〉0,u（0,t）=h（t）, u（1,t） = 0, ux（1,t） = 0, t〉0.It is shown that if the boundary forcing h is periodic with small ampitude, then the small amplitude solution u of （＊） becomes eventually time-periodic. Viewing （＊） （without the initial condition） as an infinite-dimensional dynamical system in the Hilbert space L^2（0, 1）, we also demonstrate that for a given periodic boundary forcing with small amplitude, the system （＊） admits a （locally） unique limit cycle, or forced oscillation, which is locally exponentially stable. A list of open problems are included for the interested readers to conduct further investigations.     

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Autosomal recessive primary microcephaly (MCPH) is a disorder of neurodevelopment resulting in a small brain. We identified WDR62 as the second most common cause of MCPH after finding homozygous missense and frame-shifting mutations in seven MCPH families. In human cell lines, we found that WDR62 is a spindle pole protein, as are ASPM and STIL, the MCPH7 and MCHP7 proteins. Mutant WDR62 proteins failed to localize to the mitotic spindle pole. In human and mouse embryonic brain, we found that WDR62 expression was restricted to neural precursors undergoing mitosis. These data lend support to the hypothesis that the exquisite control of the cleavage furrow orientation in mammalian neural precursor cell mitosis, controlled in great part by the centrosomes and spindle poles, is critical both in causing MCPH when perturbed and, when modulated, generating the evolutionarily enlarged human brain.     

Predicting multistage financial distress: Reflections on sampling,feature and model selection criteria

This research proposes a prediction model of multistage financial distress (MSFD) after considering contextual and methodological issues regarding sampling, feature and model selection criteria. Financial distress is defined as a three‐stage process showing different nature and intensity of financial problems. It is argued that applied definition of distress is independent of legal framework and its predictability would provide more practical solutions. The final sample is selected after industry adjustments and oversampling the data. A wrapper subset data mining approach is applied to extract the most relevant features from financial statement and stock market indicators. An ensemble approach using a combination of DTNB (decision table and naïve base hybrid model), LMT (logistic model tree) and A2DE (alternative N dependence estimator) Bayesian models is used to develop the final prediction model. The performance of all the models is evaluated using a 10‐fold cross‐validation method. Results showed that the proposed model predicted MSFD with 84.06% accuracy. This accuracy increased to 89.57% when a 33.33% cut‐off value was considered. Hence the proposed model is accurate and reliable to identify the true nature and intensity of financial problems regardless of the contextual legal framework.     

Suitable energy platform significantly improves charge separation of g-C_3N_4 for CO_2 reduction and pollutant oxidation under visible-light

The photocatalytic activities of g-C_3N_4 can be significantly improved by increasing life time of the photogenerated charges. Here, in this work we introduced TiO_2 as proper energy platform to accept the photogenerated electrons from g-C_3N_4 during photocatalysis. The nanophotocatalysts formed from the combination of a suitable amount of TiO_2 nanoparticles and g-C_3N_4 nanosheets showed 8.75 and 4.22% enhancement in photocatalytic activities for CO_2 reduction and 2-chlorophenol(2-CP) degradation under visible light illumination as compared to bare g-C_3N_4. Based on the surface photovoltage spectra, photoluminescence spectra and examination of formed hydroxyl radicals, it was confirmed that these enhanced photoactivities were attributed to the much-improved charge separation via the electron transfer from g-C_3N_4 to TiO_2. From trapping experiments,it was found that hydroxyl radicals were the major species involved in the photocatalytic degradation of 2-CP.This study is helpful to synthesize efficient photocatalysts to cope with energy and environmental issues.     

Tunability of physical properties of (Cd:Zn)S thin film by Close Space Sublimation Process (CSSP)

The present paper reports on a systematic study of the influence of Zn alloying on the structural and optical properties of Cd1 xZnxS thin films. X-ray diffraction study for structural analysis reveals that the two binary compounds have been completely transformed into ternary compound with hexagonal (wurtzite) structure with preferred orientation along c-direction with (002) planes. The optical properties such as optical constants and band gap energy of the films were examined by using spectroscopic ellipsometer and Photospectrometery. It was found that the optical constants (n and k) decrease with the addition of Zn content in the alloy. It was also confirmed that the band gap increases with increasing Zn amount in the alloy and is attributed to quantum size effect in the grain size. Raman spectroscopy analysis shows one dominant phonon band at 326 cm 1, the so-called longitudinal optical (LO) mode for all the alloy composition (x). The appearance of a single phonon band in the Raman spectra established the formation of single phase hexagonal structured Cd1 xZnxS thin film. The LO band is asymmetrically broaden and high frequency shifted due to potential fluctuation caused by the dopant material. The AFM results showed that the surface roughness was decreased with increasing Zn content.     

Strength of Concrete Filled Steel Tubular Columns

Introduction The steel tube in a concrete filled tubular column (CFT) acts as both longitudinal and lateral reinforcement, and is thus subjected to biaxial stresses of longitudinal compression and hoop tension. At the same time, con- crete is stressed tri…     

Enhanced ductility of Mg–3Al–1Zn alloy reinforced with short length multiwalled carbon nanotubes using a powder metallurgy method

Mg–3Al–1Zn–CNTs composites, with different weight fractions(0.25–1.0 wt%) of carbon nanotubes(CNTs) were successfully fabricated via a powder metallurgy method. The processing parameters were adopted in such a way to have uniform dispersion of short length CNTs without any damage, as well as re fi ned and dissolved β phases structures throughout the composite matrix. The composite exhibited impressive increase in microhardness(about+23%) and tensile failure strain value(about+98%) without signi fi cant compromise in tensile strength, compared to the un-reinforced Mg–3Al–1Zn alloy. The synthesized composites can be used in automotive and aerospace industries due to their low density and high speci fic strength.     

Epidemiological modeling of passive worm propagationon the P2P file-sharing network

The peer-to-peer(P2P) file-sharing network as a vehicle of disseminating files has become very popular.The appearance of dozens of kinds of passive worms on this network has,however,made it unsecured.This problem has been paid attention and a few of models for passive worm propagation has been presented.Unfortunately,the dynamic properties of this network are ignored in these models.Given the fact,the characteristics of both this network and the passive worm are identified,and on this basis a new mathematical model of passive worm propagation on the P2P network is presented in applying epidemiology in this paper.Note that the dynamic properties of this network are considered in the presented model.The model has been validated by large scale simulation experiments,which demonstrates that the presented model may be used for analyzing the behaviors of passive worms and predicting the trend of their propagation.