ARID1A mutations in cancer development: mechanism and therapy.

AT-Rich Interaction Domain 1A (ARID1A) is an important SWItch/Sucrose Non-Fermentation (SWI/SNF) chromatin remodeling complex subunit, and its coding gene has a high mutation frequency in many cancers. Current studies have reported that ARID1A mutational status is correlated to cancer development, including cell proliferation, invasiveness, metastasis, and morphological alterations. ARID1A acts as a tumor suppressor, regulating gene transcription, participating in DNA damage response, and influencing tumor immune microenvironment and signaling pathways. The absence of ARID1A in cancer can lead to widespread dysregulation of gene expression in cancer initiation, promotion, and progression. For patients with ARID1A mutations, effective individualized treatment can improve the prognosis of patients. In this review, we aim to discuss the mechanism of ARID1A mutations in cancer development and explore the significance of discoveries for treatment.

Fitness changes in wild soybean caused by gene flow from genetically modified soybean.

BACKGROUND: Crop-wild hybridization has generated great concerns since gene flow can be an avenue for transgene escape. However, a rather limited number of studies on risk assessment regarding the dispersion of transgenes from GM soybean to populations of its wild relatives have been previously conducted. RESULTS: The results of the 3-year experiment demonstrated that hybrids between GM soybeans and wild soybean had lower seed germination and higher seed productivity than GM soybean. Both of these features of hybrid (especially F2 and F3) were similar to those of wild soybean. Furthermore, the foreign protein was stably expressed in hybrid EPSPS positive plants; however, no difference was observed in agronomic measurements between hybrids that are glyphosate sensitive or resistant, homozygous or heterozygous for the transgene, indicating that the presence of the EPSPS transgene does not affect the vigor of hybrid. In contrast, hybridization between GM soybean and wild soybean may have more impact on hybrid growth and fecundity, this increase in biomass and yield confers a potential competition benefit to hybrids. CONCLUSIONS: Gene flow from GM soybean to wild soybean has the potential to promote the adaptability of hybrids and may increase the possibility of dispersal of transgenes in wild soybean relatives.

Full-space wavefront control enabled by a bilayer metasurface sandwiching 1D photonic crystal.

Metasurfaces, composed of sub-wavelength structures, have a powerful capability to manipulate light propagations. However, metasurfaces usually work either in pure reflection mode or pure transmission mode. Achieving full-space manipulation of light at will in the optical region is still challenging. Here we propose a design method of full-space meta-device containing a bilayer metasurface sandwiching 1D photonic crystal to manipulate the transmitted and reflected wave independently. To provide a proof-of-concept demonstration, a device is proposed to show the light focusing in transmission and a vortex beam in reflection. Meanwhile, a device focusing the reflected light with oblique 45° incidence and the transmitted light with normal incidence is designed to indicate its application potential in augmented reality (AR) application. Our design provides a promising way to enrich the multifunctional meta-devices for potential applications.

RuSe2-CoTe Heterogeneous Surfaces Coated with NC Layer for Excellent HER Performance under Alkaline Condition.

Electrocatalytic hydrogen production has been a promising high-purity hydrogen production technology, attracting a large number of researchers' research interest. Ru has a hydrogen binding capacity similar to Pt, but its price is far lower than Pt, making it a promising alternative to Pt. However, a single Se electronic structure modulation is not sufficient to enable RuSe2 to be used for practical applications on a large scale due to the lack of electrons. Therefore, choosing a suitable way to electronically modulate the Ru atoms in RuSe2 can effectively improve the activity of the catalyst. Cobalt telluride (CoTe) can significantly enhance electrocatalytic performance due to tellurium's low electronegativity and excellent metal properties. In this work, the NC layer possesses excellent electrical conductivity and CoTe acts as an electron donor to optimize the electronic structure locally and trigger electron transfer efficiently. The RuSe2-CoTe/NC electrode requires an overpotential of only 25.4 mV (10 mA cm-2), which is superior to that of RuSe2/NF (65 mV) and CoTe/NC (115 mV). Meanwhile, the Tafel slope of RuSe2-CoTe/NC (67.8 mV dec-1) was better than that of RuSe2/NF (113.6 mV dec-1) and CoTe/NC (209.5 mV dec-1), showing that the build-up of the superior heterojunction makes the RuSe2-CoTe/NC with better hydrogen evolution reaction (HER) reaction kinetics. In addition, after 30 h of long-term stability testing, no significant decrease in catalytic activity was observed, proving the good stability of the RuSe2-CoTe/NC catalyst.

Spindle Nanorods of CeO2 and NiS Heterointerface Coated by the NC Layer: A High-Performance Bifunctional Electrocatalyst for Water Splitting.

Currently, nickel sulfides are widely employed in the oxygen evolution reaction (OER) and hydrogen evolution reaction (HER), thanks to the narrow electronegativity difference of only 0.67 eV between nickel and sulfur. Among them, NiS stands out in terms of the OER performance; however, its HER performance and stability remain somewhat inadequate. The construction of heterogeneous interfaces can efficiently improve the HER performance and regulate the electronic structure of the NiS catalyst. CeO2 has been discovered to possess exceptional electronic modulation capabilities, which may lead to the effective enhancement of both HER and OER of the NiS catalyst. As a result, a nitrogen-doped carbon-coated CeO2-NiS heterogeneous interface catalyst (NC/NiS-CeO2) is designed as a bifunctional electrocatalyst for HER and OER with high performance. The NC/NiS-CeO2 catalyst demonstrates excellent HER (47 mV at 10 mA cm-2) and OER (92 mV at 10 mA cm-2) performances in a 1 M KOH alkaline solution. Characterization analysis reveals that the coupling of the heterostructure interface, which consists of CeO2 and NiS, significantly enhances electron conduction, the synergistic effect, and the electrocatalytic activity of the electrode. This study demonstrates that the HER and OER activity can be effectively improved by constructing a rational heterogeneous interface.

Oxygen-Doped Red Carbon Nitride: Enhanced Charge Separation and Light Absorption for Robust CO2 Photoreduction.

Utilizing artificial photosynthesis for the conversion of CO2 into value-added fuels has been recognized as a promising strategy for the ever-increasing energy crisis and the greenhouse effect. Herein, the element doping engineering of red spherical g-C3N4 having oxygen bonded with compositional carbon (C-O-C) for CO2 photoreduction has been explored to address this challenge. The C-O bond was formed by hydrothermal treatment with dicyandiamide and 1,3,5-trichlorotriazine. The experimental and DFT results displayed the optimum oxygen substitution sites and demonstrated that the oxygen doping greatly improved the light utilization efficiency, CO2 affinity, and charge carrier transfer, which enhanced photoreduction efficiency of CO2. The evolution rates of CO (47.2 µmol g-1) and CH4 (9.1 µmol g-1) using O-CN were much higher than that of bulk-CN without a cocatalyst. The main reason was the contribution of the O 2p orbital to the conduction band (CB) and valence band of O-CN, which effectively reduced the electron mass, facilitating electron/hole separation and enhancing its fluidity. Furthermore, the Fermi level also shifted to the bottom of the CB, leading to higher electron density, which further improved the CO2 reduction ability. Our study marks an important step for developing high-performance photocatalysts for reduction of CO2.

Z-Scheme CdIn2S4/Bi2WO6 Heterojunction for High Piezo-Photo Synergetic Performance.

The piezoelectric effect triggered by mechanical energy could establish an internal electric field to effectively modulate the separation behavior of carriers. Herein, a novel CdIn2S4/Bi2WO6 (CIS/BWO) piezo-photocatalyst for removing diclofenac (DCF) from water was constructed for the first time. Encouragingly, the photocatalytic degradation activity of CIS/BWO was effectively promoted through the piezoelectric effect. Specifically, 10% CIS/BWO exhibited promising DCF degradation performance under co-excitation of light irradiation and ultrasonic vibration, with a degradation efficiency of 99.9% within 40 min, much higher than that of pure photocatalysts (72.3%) and piezocatalysts (60.3%). Meanwhile, an in-depth study of the charge carrier separation mechanism of the CIS/BWO composite under the piezo-photo synergy condition was proposed. Both the built-in electric field induced by the piezoelectric effect in BWO and the Z-scheme transfer path of the CIS/BWO heterojunction are beneficial to interfacial charge transfer. Moreover, the Z-scheme mechanism was further demonstrated by trapping experiments and the electron spin resonance (ESR) technique. Finally, the corresponding intermediates of DCF over CIS/BWO composites and possible degradation pathways were also investigated by DFT calculations and liquid chromatography-mass spectrometry.

Impacts of climate change on herpetofauna diversity in the Qinghai-Tibetan Plateau.

Although numerous studies on the impacts of climate change on biodiversity have been published, only a handful are focused on the intraspecific level or consider population-level models (separate models per population). We endeavored to fill this knowledge gap relative to the Qinghai-Tibetan plateau (QTP) by combining species distribution modeling (SDMs) with population genetics (i.e., population-level models) and phylogenetic methods (i.e., phylogenetic tree reconstruction and phylogenetic diversity analyses). We applied our models to 11 endemic and widely distributed herpetofauna species inhabiting high elevations in the QTP. We aimed to determine the influence of environmental heterogeneity on species' responses to climate change, the magnitude of climate-change impacts on intraspecific diversity, and the relationship between species range loss and intraspecific diversity losses under 2 shared socioeconomic pathways (SSP245 and SSP585) and 3 future periods (2050s, 2070s, and 2090s). The effects of global climatic change were more pronounced at the intraspecific level (22% of haplotypes lost and 36% of populations lost) than the morphospecies level in the SSP585 climate change scenario. Maintenance of genetic diversity was in general determined by a combination of factors including range changes, species genetic structure, and the part of the range predicted to be lost. This is owing to the fact that the loss and survival of populations were observed in species irrespective of the predicted range changes (contraction or expansion). In the southeast (mountainous regions), climate change had less of an effect on range size (>100% in 3 species) than in central and northern QTP plateau regions (range size <100% in all species). This may be attributed to environmental heterogeneity, which provided pockets of suitable climate in the southeast, whereas ecosystems in the north and central regions were homogeneous. Generally, our results imply that mountainous regions with high environmental heterogeneity and high genetic diversity may buffer the adverse impacts of climate change on species distribution and intraspecific diversity. Therefore, genetic structure and characteristics of the ecosystem may be crucial for conservation under climate change.

Impactos del cambio climático sobre la diversidad de herpetofauna en la meseta Qinghai-Tíbet Región Aunque se han publicado numerosos estudios sobre los impactos del cambio climática en la biodiversidad, son muy pocos los que se enfocan en el nivel intraespecífico o que consideran modelos a nivel poblacional (modelos separados por población). Intentamos cerrar este vacío de conocimiento en relación con la meseta Qinghai-Tíbet (MQT) con la combinación entre modelos de distribución de especies (MDE) y genética poblacional (modelos a nivel poblacional) y métodos filogenéticos (reconstrucción de árboles filogenéticos y análisis de diversidad filogenética). Aplicamos nuestros modelos a once especies endémicas de herpetofauna con distribución amplia en las elevaciones más altas de la MQT. Nos planteamos determinar la influencia de la heterogeneidad de las especies sobre la respuesta de las especies al cambio climático, la magnitud de los impactos del cambio climático sobre la diversidad intraespecífica y la relación entre la pérdida de distribución de la especie y las pérdidas de diversidad intraespecífica bajo dos vías socioeconómicas (SSP245 y SSP585) y tres periodos del futuro (2050s, 2070s y 2090s). Los efectos del cambio climático global fueron más pronunciados a nivel intraespecífico (22% de pérdida en los haplotipos y 36% en las poblaciones) que al nivel morfoespecie en el escenario de cambio climático SSP585. El mantenimiento de la diversidad genética casi siempre estuvo determinado por una combinación de factores que incluyen cambios en la distribución, estructura genética de las especies y la parte de la distribución que se pronosticó se perdería. Esto se debe a que observamos la pérdida y supervivencia de las poblaciones sin importar los cambios pronosticados en la distribución (contracción o expansión). En las regiones montañosas del sureste, el cambio climático tuvo un efecto menor sobre la distribución (>100% en tres especies) comparado con las regiones de la meseta central y del norte de la MQT (distribución <100% en todas las especies). Esto puede atribuirse a la heterogeneidad ambiental, la cual proporciona recovecos de clima adecuado en el sureste, mientras que los ecosistemas en las regiones central y norte fueron homogéneos. De manera general, nuestros resultados implican que las regiones montañosas con una elevada heterogeneidad ambiental y una gran diversidad genética podrían reducir los impactos adversos del cambio climático sobre la distribución de las especies y la diversidad intraespecífica. Por lo tanto, la estructura genética y las características del ecosistema pueden ser cruciales para conservar bajo el cambio climático.

A FRET Based Composite Sensing Material Based on UCNPs and Rhodamine Derivative for Highly Sensitive and Selective Detection of Fe3.

The existence of excessive concentration of iron ion (Fe3+) in water will do harm to the environment and biology. Presently, sensitive and selective determination of Fe3+ directly in real environment samples is still a challenging job because of the high complexity of the sample matrix. In this work, we reported a new sensor system for Fe3+ based on fluorescence resonance energy transfer (FRET) from upconversion nanoparticles (UCNPs) to Rhodamine derivative probe (RhB). The NaYF4: Yb, Er@SiO2@P(NIPAM-co-RhB) nanocomposites was constructed, in which PNIPAm was used as the probe carrier. The nanocomposites can not only be excited by infrared light to avoid the interference of background light in the Fe3+ detection process, but also enhance the detection signal output through temperature control. Under the optimum conditions, the RSD (Relative standard deviation) of actual sample measurements ranges was from 1.95% to 4.96%, with the recovery rate from 97.4% to 103.3%, which showed high reliability for Fe3+ detection. This work could be extended to sensing other target ions or molecules and may promote the widespread use of FRET technique.

Bioactive lipids and their metabolism: New therapeutic opportunities for Parkinson's disease.

Parkinson's disease (PD) is a neurological disorder characterized by motor dysfunction, which can also be associated with non-motor symptoms. Its pathogenesis is thought to stem from a loss of dopaminergic neurons in the substantia nigra pars compacta and the formation of Lewy bodies containing aggregated α-synuclein. Recent works suggested that lipids might play a pivotal role in the pathophysiology of PD. In particular, the so-called 'bioactive' lipids whose changes in the concentration may lead to functional consequences and affect many pathophysiological processes, including neuroinflammation, are closely related to PD in terms of symptoms, disease progression and incidence. This study aimed to explore the molecular metabolism and physiological functions of bioactive lipids, such as fatty acids (mainly unsaturated fatty acids), eicosanoids, endocannabinoids, oxysterols, representative sphingolipids, diacylglycerols and lysophosphatidic acid, in the development of PD. The knowledge of bioactive lipids in PD gained through preclinical and clinical studies is expected to improve the understanding of disease pathogenesis and provide novel therapeutic avenues.

Efficient Charge Separation via MoSe2 Nanosheets with Tunable 1T Phase Contents: Piezoreduction of Cr(VI) to Cr(III) and Piezodegradation of RhB.

Piezocatalysis is a promising technology to address environmental pollution by converting mechanical energy into chemical energy. Herein, MoSe2 nanosheets with different 1T phase percentages (ranging from 30 to 80%) were constructed by adjusting hydrothermal temperature. Moreover, the roles of phase engineering in the piezocatalysis were thoroughly investigated by degrading rhodamine B and reducing Cr(VI) in ultrasonic vibration conditions. In particular, MoSe2 prepared at 220 °C (MoSe2-220) exhibits ultrahigh observed constant kobs and degradation rate k, which is superior to most reported catalysts to date. The experimental results indicate that the introduction of the 1T phase increases the active sites of the material, improves the conductivity, and inhibits the recombination of electrons and holes. Moreover, an internal electric field in the 2H phase induced by piezoelectric polarization is facilitated to separate electron-hole pairs, enabling the degradation and reduction to proceed. The capture experiments and EPR tests further confirm that •O2- and •OH are main reactive species, and a rational mechanism is finally put forward. This study offers a clear understanding of phase engineering in piezocatalysis and provides an efficiency strategy to construct highly efficient piezocatalysts.

Metabolomics analysis of the potential toxicological mechanisms of diquat dibromide herbicide in adult zebrafish (Danio rerio) liver.

Although diquat is a widely used water-soluble herbicide in the world, its sublethal adverse effects to fish have not been well characterised. In this study, histopathological examination and biochemical assays were applied to assess hepatotoxicity and combined with gas chromatography-mass spectrometry (GC-MS)-based metabolomics analysis to reveal overall metabolic mechanisms in the liver of zebrafish (Danio rerio) after diquat exposure at concentrations of 0.34 and 1.69 mg·L-1 for 21 days. Results indicated that 1.69 mg·L-1 diquat exposure caused cellular vacuolisation and degeneration with nuclear abnormality and led to the disturbance of antioxidative system and dysfunction in the liver. No evident pathological injury was detected, and changes in liver biochemistry were not obvious in the fish exposed to 0.34 mg·L-1 diquat. Multivariate statistical analysis revealed differences between profiles obtained by GC-MS spectrometry from control and two treatment groups. A total of 17 and 22 metabolites belonging to different classes were identified following exposure to 0.34 and 1.69 mg·L-1 diquat, respectively. The metabolic changes in the liver of zebrafish are mainly manifested as inhibition of energy metabolism, disorders of amino acid metabolism and reduction of antioxidant capacity caused by 1.69 mg·L-1 diquat exposure. The energy metabolism of zebrafish exposed to 0.34 mg·L-1 diquat was more inclined to rely on anaerobic glycolysis than that of normal zebrafish, and interference effects on lipid metabolism were observed. The metabolomics approach provided an innovative perspective to explore possible hepatic damages on fish induced by diquat as a basis for further research.

A novel human endometrial epithelial cell line for modeling gynecological diseases and for drug screening.

Endometrium-related malignancies including uterine endometrioid carcinoma, ovarian clear cell carcinoma and ovarian endometrioid carcinoma are major types of gynecologic cancer, claiming more than 13,000 women's lives annually in the United States. In vitro cell models that recapitulate "normal" endometrial epithelial cells and their malignant counterparts are critically needed to facilitate the studies of pathogenesis in endometrium-related carcinomas. To achieve this objective, we have established a human endometrial epithelial cell line, hEM3, through immortalization and clonal selection from a primary human endometrium culture. hEM3 exhibits stable growth in vitro without senescence. hEM3 expresses protein markers characteristic of the endometrial epithelium, and they include PAX8, EpCAM, cytokeratin 7/8, and ER. hEM3 does not harbor pathogenic germline mutations in genes involving DNA mismatch repair (MMR) or homologous repair (HR) pathways. Despite its unlimited capacity of in vitro proliferation, hEM3 cells are not transformed, as they are not tumorigenic in immunocompromised mice. The cell line is amenable for gene editing, and we have established several gene-specific knockout clones targeting ARID1A, a tumor suppressor gene involved in the SWI/SNF chromatin remodeling. Drug screening demonstrates that both HDAC inhibitor and PARP inhibitor are effective in targeting cells with ARID1A deletion. Together, our data support the potential of hEM3 as a cell line model for studying the pathobiology of endometrium-related diseases and for developing effective precision therapies.

Extracellular vesicle encapsulated microRNA-320a inhibits endometrial cancer by suppression of the HIF1α/VEGFA axis.

Accumulating evidence indicates that cancer-associated fibroblasts (CAFs) play a crucial role in endometrial cancer (EC) pathogenesis. The present study investigated the clinical significance and biological function of extracellular vesicle (EV) encapsulated miR-320a released from CAFs in EC. EC-related microarray data was obtained from the GSE25405 database and differential analysis was performed. Expression of miR-320a in CAFs and normal endometrial fibroblasts (NFs) as well as CAF-delivered EVs was detected; also, delivery of miR-320a from CAFs to EC cells was observed. In addition we confirmed that miR-320a targets HIF1α via a dual-luciferase reporter assay. Phenotypic analysis was used to study the functional significance of EV delivered miR-320a and its downstream effects. miR-320a was found to have low expression in EC cells and tissues. CAF-secreted EVs were successfully isolated and miR-320a was found also be expressed at low levels in these EVs. Finally, we found direct transfer of CAF-secreted exosomal miR-320a to EC cells, which inhibited their proliferation. Mechanistically, we found this is due to downregulation of HIF1α by miR-320a, which led to lowered VEGFA expression in vitro. Accordingly, we overexpressed HIF1α also showed that the inhibitory effect of miR-320a overexpression in EC cells could be reversed. These results point to CAF-derived EVs carrying overexpressed miR-320a as a novel direction for therapeutic strategies for EC.

Reference genome of wild goat (capra aegagrus) and sequencing of goat breeds provide insight into genic basis of goat domestication.

BACKGROUND: Domestic goats (Capra hircus) have been selected to play an essential role in agricultural production systems, since being domesticated from their wild progenitor, bezoar (Capra aegagrus). A detailed understanding of the genetic consequences imparted by the domestication process remains a key goal of evolutionary genomics. RESULTS: We constructed the reference genome of bezoar and sequenced representative breeds of domestic goats to search for genomic changes that likely have accompanied goat domestication and breed formation. Thirteen copy number variation genes associated with coat color were identified in domestic goats, among which ASIP gene duplication contributes to the generation of light coat-color phenotype in domestic goats. Analysis of rapidly evolving genes identified genic changes underlying behavior-related traits, immune response and production-related traits. CONCLUSION: Based on the comparison studies of copy number variation genes and rapidly evolving genes between wild and domestic goat, our findings and methodology shed light on the genetic mechanism of animal domestication and will facilitate future goat breeding.

Common polymorphisms in the CYP1A1 and CYP11A1 genes and polycystic ovary syndrome risk: a meta-analysis and meta-regression.

AIM: Increasing scientific evidences suggest that common polymorphisms in the CYP1A1 and CYP11A1 genes may contribute to the development and progression of polycystic ovary syndrome (PCOS), but many existing studies have yielded inconclusive results. The aim of this study was to perform a meta-analysis of published studies on the associations between common polymorphisms in the CYP1A1 and CYP11A1 genes and susceptibility to PCOS. METHODS: An extensive literature search for relevant studies was conducted on PubMed, Embase, Web of Science, Cochrane Library, and CBM databases from their inception through 1 June, 2013. This meta-analysis was performed using the STATA 12.0 software. The crude risk ratio (RR) with 95% confidence interval was calculated. RESULTS: Thirteen case-control studies were included in this meta-analysis with a total of 1,571 PCOS cases and 1,918 healthy controls. Our meta-analysis revealed that CYP1A1 MspI (rs4646903 T > C) polymorphism may increase the risk of PCOS, especially among Caucasian populations. Furthermore, CYP11A1 microsatellite [TTTA]n repeat polymorphism also showed significant associations with increased risk of PCOS among Caucasian populations. However, there was no statistically significant association between CYP1A1 Ile462Val (rs1048943 A > G) polymorphism and PCOS risk. CONCLUSION: Our meta-analysis suggests that CYP1A1 MspI and CYP11A1 microsatellite [TTTA]n repeat polymorphisms may contribute to increasing susceptibility to PCOS among Caucasian populations. Detection of common polymorphisms in the CYP1A1 and CYP11A1 genes might be promising biomarkers for the diagnosis and prognosis of PCOS.

Plant leaf chlorophyll content retrieval based on a field imaging spectroscopy system.

A field imaging spectrometer system (FISS; 380-870 nm and 344 bands) was designed for agriculture applications. In this study, FISS was used to gather spectral information from soybean leaves. The chlorophyll content was retrieved using a multiple linear regression (MLR), partial least squares (PLS) regression and support vector machine (SVM) regression. Our objective was to verify the performance of FISS in a quantitative spectral analysis through the estimation of chlorophyll content and to determine a proper quantitative spectral analysis method for processing FISS data. The results revealed that the derivative reflectance was a more sensitive indicator of chlorophyll content and could extract content information more efficiently than the spectral reflectance, which is more significant for FISS data compared to ASD (analytical spectral devices) data, reducing the corresponding RMSE (root mean squared error) by 3.3%-35.6%. Compared with the spectral features, the regression methods had smaller effects on the retrieval accuracy. A multivariate linear model could be the ideal model to retrieve chlorophyll information with a small number of significant wavelengths used. The smallest RMSE of the chlorophyll content retrieved using FISS data was 0.201 mg/g, a relative reduction of more than 30% compared with the RMSE based on a non-imaging ASD spectrometer, which represents a high estimation accuracy compared with the mean chlorophyll content of the sampled leaves (4.05 mg/g). Our study indicates that FISS could obtain both spectral and spatial detailed information of high quality. Its image-spectrum-in-one merit promotes the good performance of FISS in quantitative spectral analyses, and it can potentially be widely used in the agricultural sector.

Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families.

BACKGROUND: MSX1 (OMIM #142983) is crucial to normal dental development, and variants in MSX1 are associated with dental anomalies. The objective of this study was to characterize the pathogenicity of novel MSX1 variants in Chinese families with non-syndromic oligodontia (NSO). METHODS: Genomic DNA was extracted from individuals representing 35 families with non-syndromic oligodontia and was analyzed by Sanger sequencing and whole-exome sequencing. Pathogenic variants were screened via analyses involving PolyPhen-2, Sorting-Intolerant from Tolerant, and MutationTaster, and conservative analysis of variants. Patterns of MSX1-related NSO were analyzed. MSX1 structural changes suggested functional consequences in vitro. RESULTS: Three previously unreported MSX1 heterozygous variants were identified: one insertion variant (c.576_577insTAG; p.Gln193*) and two missense variants (c. 871T>C; p.Tyr291His and c. 644A>C; p.Gln215Pro). Immunofluorescence analysis revealed abnormal subcellular localization of the p.Gln193* MSX1 variant. In addition, we found that these MSX1 variants likely lead to the loss of second premolars. CONCLUSION: Three novel MSX1 variants were identified in Chinese Han families with NSO, expanding the MSX1 variant spectrum and presenting a genetic origin for the pathogenesis detected in patients and their families.

Gender differences in brain region activation during verbal fluency task as detected by fNIRS in patients with depression.

BACKGROUND: Gender plays a role in the mechanisms of depression, but fewer studies have focused on gender differences in the abnormal activation of brain regions when patients perform specific cognitive tasks. METHODS: A total of 110 major depressive disorder (MDD) patients and 106 healthy controls were recruited. The relative change in oxygen-haemoglobin (oxy-Hb) concentration during the verbal fluency task were measured by a 52-channel near-infra-red spectroscopy (NIRS) system. Differences in brain region activation between patients and healthy controls and between genders of depression patients were compared. RESULTS: MDD patients demonstrated significantly decreased [oxy-Hb] changes in the right inferior frontal gyrus (p = 0.043) compared to healthy controls. A marked increase in leftward functional language lateralisation in the inferior frontal gyrus was observed in the MDD group in contrast to the HC group (p = 0.039). Furthermore, female patients in the MDD group exhibited significant reductions in [oxy-Hb] changes in the right frontal region (specifically, the superior and middle frontal gyrus; p = 0.037) compared with male patients. CONCLUSIONS: Gender impacts depression-related brain activation during cognitive tasks, potentially influencing depression's pathogenesis.

Flavonoid localization in soybean seeds: Comparative analysis of wild (Glycine soja) and cultivated (Glycine max) varieties.

Wild soybean (Glycine soja) is known for its high flavonoid contents, yet the distribution of flavonoids in the seeds is not well understood. Herein, we utilized matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI-MSI) and metabolomics methods to systematically investigate flavonoid differences in the seed coats and embryos of G. soja and G. max. The results of flavonoid profiles and total flavonoid content analyses revealed that flavonoid diversity and abundance in G. soja seed coats were significantly higher than those in G. max whereas the levels were similar in embryos. Specifically, 23 unique flavonoids were identified in the seed coats of G. soja, including procyanidins, epicatechin derivatives, and isoflavones. Using MALDI-MSI, we further delineated the distribution of the important flavonoids in the cotyledons, hypocotyls, and radicles of the two species. These findings imply that G. soja holds considerable breeding potential to enhance the nutritional and stress resistance traits of G. max.