BACKGROUND Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. METHODS We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletion, using comparative genomic hybridization, quantitative polymerase-chain-reaction analysis, and DNA sequencing. We carried out tests of replication using an additional series of 76 Han Chinese persons with congenital scoliosis and a multi-center series of 42 persons with 16p11.2 deletions. RESULTS We identified a total of 17 heterozygous TBX6 null mutations in the 161 persons with sporadic congenital scoliosis (11%); we did not observe any null mutations in TBX6 in 166 controls (P<3.8×10−6). These null alleles include copy-number variants (12 instances of a 16p11.2 deletion affecting TBX6) and single-nucleotide variants (1 nonsense and 4 frame-shift mutations). However, the discordant intrafamilial phenotypes of 16p11.2 deletion carriers suggest that heterozygous TBX6 null mutation is insufficient to cause congenital scoliosis. We went on to identify a common TBX6 haplotype as the second risk allele in all 17 carriers of TBX6 null mutations (P<1.1×10−6). Replication studies involving additional persons with congenital scoliosis who carried a deletion affecting TBX6 confirmed this compound inheritance model. In vitro functional assays suggested that the risk haplotype is a hypomorphic allele. Hemivertebrae are characteristic of TBX6-associated congenital scoliosis. CONCLUSIONS Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that we analyzed.

The golden apple snail (Pomacea canaliculata) is a fresh water snail listed among the top-100 worst invasive species, worldwide and a noted agricultural and quarantine pest that causes great economic losses. It is characterized by fast growth, strong stress tolerance, a high reproduction rate, and adaptation to a broad range of environments.Here, we used long-read sequencing to produce a 440-Mb high-quality chromosome-level assembly for the P. canaliculata genome. In total, 50 Mb (11.4%) repeat sequences and 21,533 gene models were identified in the genome. The major findings of this study include the recent explosion of DNA/hAT-Charlie transposable elements (TEs), the expansion of the P450 gene family and the constitution of the cellular homeostasis system, which contributes to ecological plasticity in stress adaptation. In addition, the high transcriptional levels of perivitellin genes in the ovary and albumen gland promote the function of nutrient supply and defence ability in eggs. Furthermore, the gut metagenome also contains diverse genes for food digestion and xenobiotic degradation.

Hierarchical structures consisting of micropyramids and nanowires are used in Si/PEDOT:PSS hybrid solar cells to achieve a power conversion efficiency (PCE) up to 11.48% with excellent omnidirectionality. The structure provides a combined concepts of superior light trapping ability, significant increase of p-n junction areas, and short carrier diffusion distance, improving the photovoltaic characteristics including short-circuit current density, fill factor, and PCE. The enhancement of power generation is up to 253.8% at high incident angles, showing the outstanding omnidirectional operation ability of hybrid cells with hierarchical Si surfaces. This properly designed hierarchical-structured device paves a promising way for developing low-cost, high-efficiency, and omnidirectional solar applications in the future.

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Femtosecond and nanosecond lasers were compared for ablating brass alloys. All operating parameters from both lasers were equal except for the pulse duration. The ablated aerosol vapor was collected on silicon substrates for particle size measurements or sent into an inductively coupled plasma mass spectrometer. The diameters and size distribution of particulates were measured from scanning electron microscope (SEM) images of the collected ablated aerosol. SEM measurements showed that particles ablated using nanosecond pulses were single spherical entities ranging in diameter from several micrometers to several hundred nanometers. Primary particles ablated using femtosecond ablation were ∼100 nm in diameter but formed large agglomerates. ICPMS showed enhanced signal intensity and stability using femtosecond compared to nanosecond laser ablation.Laser ablation combined with inductively coupled plasma mass spectrometry (ICPMS) is a practical method for direct solid sample chemical analysis. [1][2][3][4][5] Significant improvements in this technology have led to numerous routine applications, especially in geochemistry. Efforts are still underway to study parameters such as wavelength, 6;7 gas ambient, 8 and energy fluence 9-11 for further improving accuracy and precision of analysis. The ablated aerosol particle sizes are believed to significantly influence analytical performance using ICPMS detection. 12-14 Chemical composition, entrainment, transport, and decomposition in the ICP all are related to the size of the aerosol particles. [15][16][17] For ablation, the laser wavelength and pulse duration play a dominant role in defining the size, size distribution, and chemistry of the ablated particulates. The goal of this work was to measure particles using femtosecond and nanosecond laser ablation and establish correlations with ICPMS performance.The use of femtosecond ablation to reduce thermal effects and minimize fractionation for chemical analysis has been tested, using both IR and UV pulses. [18][19][20][21][22] By using the same laser energy and spot size (same fluence), ICPMS performance with femtosecond laser ablation showed improvements in intensity, precision, and accuracy. To further investigate these improvements, the basis of this work was to examine the relationship between the particle size distribution and ICPMS response using UV femtosecond and nanosecond laser pulses. Brass alloys were ablated with fixed laser parameters of fluence, energy, spot size, and wavelength; pulse duration was the only difference. Brass alloys are commonly chosen as samples due to the thermal volatility difference of copper and zinc. [18][19][20][21][22][23][24] These alloys are ideal for studying effects of pulse duration on fractionation and signal stability using ICPMS. The ablated aerosols also were collected on silicon substrates for scanning electron microscopic (SEM) measurements of particle sizes. EXPERIMENTAL SECTIONThe experimental configuration is shown in Figure 1. Two lasers were used; a Nd:YAG laser with 6-n...

Primary ovarian insufficiency (POI) is a common cause of infertility in around 1–2% of women aged <40 years. However, the mechanisms that cause POI are still poorly understood. Here we showed that germ cell-specific knockout of an essential autophagy induction gene Atg7 led to subfertility in female mice. The subfertility of Atg7 deletion females was caused by severe ovarian follicle loss, which is very similar to human POI patients. Further investigation revealed that germ cell-specific Atg7 knockout resulted in germ cell over-loss at the neonatal transition period. In addition, our in vitro studies also demonstrated that autophagy could protect oocytes from over-loss by apoptosis in neonatal ovaries under the starvation condition. Taken together, our results uncover a new role for autophagy in the regulation of ovarian primordial follicle reservation and hint that autophagy-related genes might be potential pathogenic genes to POI of women.

Hierarchical structures combining micropyramids and nanowires with appropriate control of surface carrier recombination represent a class of architectures for radial p-n junction solar cells that synergizes the advantageous features including excellent broad-band, omnidirectional light-harvesting and efficient separation/collection of photoexcited carriers. The heterojunction solar cells fabricated with hierarchical structures exhibit the efficiency of 15.14% using cost-effective as-cut Czochralski n-type Si substrates, which is the highest reported efficiency among all n-type Si nanostructured solar cells. We also demonstrate the omnidirectional solar cell that exhibits the daily generated power enhancement of 44.2% by using hierarchical structures, as compared to conventional micropyramid control cells. The concurrent improvement in optical and electrical properties for realizing high-efficiency omnidirectional solar cells using as-cut Czochralski n-type Si substrates demonstrated here makes a hierarchical architecture concept promising for large-area and cost-effective mass production.