Oriented bouncing of droplets with a small Weber number on inclined one-dimensional nanoforests.

Asymmetric superhydrophobic structures with anisotropic wettability can achieve directional bouncing of droplets and thus can have applications in directional self-cleaning, liquid transportation, and heat transfer. To achieve convenient large-scale preparation of asymmetric superhydrophobic surfaces, inclined nanoforests are prepared in this work using a technique of competitive ablation polymerization, which allows the control of the inclined angles, diameters, and heights of the nanostructures. In this study, such asymmetric structures with the smallest dimension (230 nm diameter) known are achieved by a simple etching method to guide droplet unidirectional bouncing. With such nanoforests, the mechanism of droplet bouncing on their surface is investigated, and controllable droplet bouncing over a long distance is achieved using droplets with a low Weber number. The proposed structure has a promising future in directional self-cleaning, liquid transportation and heat transfer.

Molecular phylogenetic relationships based on mitochondrial genomes of novel deep-sea corals (Octocorallia: Alcyonacea): Insights into slow evolution and adaptation to extreme deep-sea environments.

A total of 10 specimens of Alcyonacea corals were collected at depths ranging from 905 m to 1 633 m by the manned submersible Shenhai Yongshi during two cruises in the South China Sea (SCS). Based on mitochondrial genomic characteristics, morphological examination, and sclerite scanning electron microscopy, the samples were categorized into four suborders (Calcaxonia, Holaxonia, Scleraxonia, and Stolonifera), and identified as 9 possible new cold-water coral species. Assessments of GC-skew dissimilarity, phylogenetic distance, and average nucleotide identity (ANI) revealed a slow evolutionary rate for the octocoral mitochondrial sequences. The nonsynonymous ( Ka) to synonymous ( Ks) substitution ratio ( Ka/ Ks) suggested that the 14 protein-coding genes (PCGs) were under purifying selection, likely due to specific deep-sea environmental pressures. Correlation analysis of the median Ka/ Ks values of five gene families and environmental factors indicated that the genes encoding cytochrome b (cyt b) and DNA mismatch repair protein ( mutS) may be influenced by environmental factors in the context of deep-sea species formation. This study highlights the slow evolutionary pace and adaptive mechanisms of deep-sea corals.

Velocity-Switched Droplet Rebound Direction on Anisotropic Superhydrophobic Surfaces.

Droplet well-controlled directional motion being an essential function has attracted much interest in academic and industrial applications, such as self-cleaning, micro-/nano-electro-mechanical systems, drug delivery, and heat-transferring. Conventional understanding has it that a droplet impacted on an anisotropic surface tends to bounce along the microstructural direction, which is mainly dictated by surface properties rather than initial conditions. In contrast to previous findings, it demonstrates that the direction of a droplet's rebound on an anisotropic surface can be switched by designing the initial impacting velocity. With an increase in impacting height from 2 to 10 cm, the droplet successively shows a backward, vertical, and forward motion on anisotropic surfaces. Theoretical demonstrations establish that the transition of droplet bouncing on the anisotropic surface is related to its dynamic wettability during impacting process. Characterized by the liquid-solid interaction, it is demonstrated that the contact state at small and large impacting heights induces an opposite resultant force in microstructures. Furthermore, energy balance analysis reveals that the energy conversion efficiency of backward motion is almost three times as that of traditional bouncing. This work, including experiments, theoretical models, and energy balance analysis provides insight view in droplet motions on the anisotropic surfaces and opens a new way for the droplet transport.

Oxidative stress and ROS-mediated cellular events in RSV infection: potential protective roles of antioxidants.

Respiratory syncytial virus (RSV), a member of the Pneumoviridae family, can cause severe acute lower respiratory tract infection in infants, young children, immunocompromised individuals and elderly people. RSV is associated with an augmented innate immune response, enhanced secretion of inflammatory cytokines, and necrosis of infected cells. Oxidative stress, which is mainly characterized as an imbalance in the production of reactive oxygen species (ROS) and antioxidant responses, interacts with all the pathophysiologic processes above and is receiving increasing attention in RSV infection. A gradual accumulation of evidence indicates that ROS overproduction plays an important role in the pathogenesis of severe RSV infection and serves as a major factor in pulmonary inflammation and tissue damage. Thus, antioxidants seem to be an effective treatment for severe RSV infection. This article mainly reviews the information on oxidative stress and ROS-mediated cellular events during RSV infection for the first time.

SPI1-Mediated Upregulation of the CST1 Gene as an Independent Poor Prognostic Factor Accelerates Metastasis in Esophageal Squamous Cell Carcinoma (ESCC) by Interacting with MMP2.

BACKGROUND: Esophageal squamous cell carcinoma (ESCC) is a highly lethal tumor type, but studies on the ESCC tumor microenvironment are limited. We found that cystatin SN (CST1) plays an important role in the ESCC tumor microenvironment. CST1 has been reported to act as an oncogene in multiple human cancers, but its clinical significance and underlying mechanism in ESCC remain elusive. METHODS: We performed ESCC gene expression profiling with data from RNA-sequencing and public databases and found CST1 upregulation in ESCC. Then, we assessed CST1 expression in ESCC by RT‒qPCR and Western blot analysis. In addition, immunohistochemistry (IHC) and enzyme-linked immunosorbent assay (ELISA) were used to estimate the expression of CST1 in ESCC tissue and serum. Moreover, further functional experiments were conducted to verify that the gain and loss of CST1 in ESCC cell lines significantly influenced the proliferation and metastasis of ESCC. Mass spectrometry, coimmunoprecipitation, and gelatin zymography experiments were used to validate the interaction between CST1 and matrix metalloproteinase 2 (MMP2) and the mechanism of CST1 influence on metastasis in ESCC. RESULTS: Here, we found that CST1 expression was significantly elevated in ESCC tissues and serum. Moreover, compared with patients with low CST1 expression, patients with high CST1 expression had a worse prognosis. Overall survival (OS) and disease-free survival (DFS) were significantly unfavorable in the high CST1 expression subgroup. Likewise, the CST1 level was significantly increased in ESCC serum compared with healthy control serum, indicating that CST1 may be a potential serum biomarker for diagnosis, with an area under the curve (AUC) = 0.9702 and p < 0.0001 by receiver operating curve (ROC) analysis. Furthermore, upregulated CST1 can promote the motility and metastatic capacity of ESCC in vitro and in vivo by influencing epithelial mesenchymal transition (EMT) and interacting with MMP2 in the tumor microenvironment (TME). CONCLUSIONS: Collectively, the results of this study indicated that high CST1 expression mediated by SPI1 in ESCC may serve as a potentially prognostic and diagnostic predictor and as an oncogene to promote motility and metastatic capacity of ESCC by influencing EMT and interacting with MMP2 in the TME.

Dynamic Anti-Icing Performance of Flexible Hybrid Superhydropohobic Surfaces.

Normal superhydrophobic surfaces with a rough topography provide pocketed air at the solid-liquid interface, which guides the droplet to easily detach from the surface at room temperature. However, at low temperatures, this function attenuates obviously. In this research, a flexible hybrid topography with submillimeter (sub-mm) and microcone arrays is designed to adjust the impacting behavior of the droplet. The sub-mm cone could provide rigid support to limit deformation, leading to reduced energy consumption during impact processes. However, the microcone could maintain surface superhydrophobicity under different conditions, preventing droplet breakage and the change of the droplet contact state during impact processes by providing multiple contact points. Under the synergistic effect, such a hybrid structure could provide much more pocket air at the solid-liquid interface to limit the spreading of liquid droplets and reduce the energy loss during the impact process. At a low temperature (-5 °C), even if the impact height is reduced to 1 cm, the droplets still could be bound off, and the hybrid superhydrophobic surface presents excellent dynamic anti-icing ability. The special flexible hybrid superhydropohobic surface has potential application in fast self-cleaning and anti-icing fields.

EXOC3L1: A Novel Prognostic Biomarker Correlated with Immune Infiltration in Esophageal Squamous Cell Carcinoma.

BACKGROUND Exocyst complex component 3-like 1 (EXOC3L1) is ubiquitously present in multiple organs. However, its role in esophageal squamous cell carcinoma (ESCC) remains unknown. The aim of this study was to explore the relationship between EXOC3L1 and ESCC. MATERIAL AND METHODS A total of 652 normal samples and 82 ESCC samples obtained from the University of California Santa Cruz (UCSC) Xena were applied to detect the expression difference of EXOC3L1. GSE53625 with 179 paired samples and GSE161533 with 28 paired samples were used for validation. The correlation between clinicopathological features and EXOC3L1 expression was calculated. Kaplan-Meier method was employed to assess the prognostic value of EXOC3L1 in ESCC. Univariate and multivariate Cox regression analyses were carried out to screen the factors contributing to the prognosis of ESCC. In addition, functional enrichment analysis, protein-protein interaction (PPI) network analysis, and immune infiltration analysis were conducted to identify the significantly involved functions of EXOC3L1. RESULTS EXOC3L1 was significantly overexpressed in ESCC compared to normal samples. High expression of EXOC3L1 was associated with worse prognosis, and univariate and multivariate Cox regression analysis demonstrated that EXOC3L1 was an independent prognostic predictor of ESCC. Functional enrichment analysis and immune infiltration analysis disclosed that the expression of EXOC3L1 was correlated with the abundance of several types of immune cells. CONCLUSIONS EXOC3L1 plays a crucial role in the prognosis of ESCC, and it may serve as a reliable biomarker for predicting the survival and a potential therapeutic target for ESCC.

Measurement of the magnetic resonance imaging of the area supratentorial and infratentorial mid-sagittal plane of the normal Tibetan adults / 解剖学报

[Abstract] Objective To explore the relationship between supratentorial area (STA), posterior fossa area (PFA) and intracranial area (ICA) of normal adult Tibetans with age and gender. Methods The subjects of this study were native Tibetan adults living in Lhasa. Totally 158 sample populations were between the ages of 20 and 59 years, with an average age (36. 60 ± 10. 75) years, including 64 males and 94 females. Siemens MAGNETOM ESSENZA 1. 5T magnetic resonance scanner was used to scan with 3D-fSPGR sequence, and the images obtained by scanning were stored in DICOM format and imported into 3D Medical medical image processing software, and region of interest was delineated by using the software’s own toolkit. STA, PFA and ICA were measured on T1WI mid-sagittal imaging, and the ratios of PFA / STA, STA / ICA and PFA / ICA were calculated. In order to eliminate the influence of individual differences in skull size on brain structure, this paper corrected the STA and PFA with the same level of ICA, and obtained the relativity of supratentorial area (RSTA) and relativity of posterior fossa area (RPFA). Results The STA was (127. 91 ± 9. 84) cm

A comprehensive prognostic and immune infiltration analysis of EXOC3L1 in pan-cancer.

Exocyst complex component 3 like 1 (EXOC3L1) is widely present in various human tissues, which mainly regulates insulin secretion. However, its roles in tumors remain unclear. In the present study, we aimed to investigate the roles of EXOC3L1 in pan-cancer, and the data was downloaded from of the University of California Santa Cruz (UCSC) Xena and the Cancer Genome Atlas (TCGA). The expression status of EXOC3L1 was studied in the TCGA_GTEx samples, TCGA samples and paired samples in TCGA, respectively. Subsequently, Kaplan-Meier analysis was applied to 33 kinds of tumors in TCGA, among the cancers that EXOC3L1 can affect prognosis, clinical correlation analysis and univariate Cox regression analysis were performed. Furthermore, representative cancers kidney renal clear cell carcinoma (KIRC) and lung squamous cell carcinoma (LUSC) with a sample size larger than 500 were selected to construct nomogram models to confirm the prognostic value of EXOC3L1 in cancers. Additionally, the associations of EXOC3L1 with immune cell infiltrations were performed as well. Mechanistically, functional enrichment analysis was performed to explore potential signaling pathways that EXOC3L1 may involve in. Our study found that EXOC3L1 was differentially expressed in a variety of tumors and was associated with the clinical outcomes and immune microenvironment of several tumors, it may affect the occurrence and development of tumors through NOTCH signaling pathway, PI3K-AKT signaling pathway and immune-related pathways. In conclusion, we propose that EXOC3L1 may serve as a potential prognostic biomarker and a promising target for cancer immunotherapy in a variety of cancers.

Electronic whiskers for velocity sensing based on the liquid metal hysteresis effect.

The artificial biomimetic sensory hair as state-of-art electronics has drawn great attention from academic theorists of industrial production given its potential application in soft robotics, environmental exploration and health monitoring. However, it still remains a challenge to develop highly sensitive electronic sensory hair with fast response. In this study, a bio-inspired electronic whisker (e-whisker) with a hollow polymer shell and a liquid metal core was prepared by microinjection for airflow measurement and detection of obstacles. In addition, we illustrated the effect of liquid metal hysteresis on its distribution in microchannels on deformation. The difference in the deformed velocity between the selected fiber and EGaIn would result in a disturbance emerging in the liquid metal channel, which further causes a variation in resistance. Taking advantage of this phenomenon, the integrated fiber e-whisker can be employed to detect tiny airflow and disturbance. The experimental results indicate that the fiber sensor can detect the airflow velocity as low as 0.2 m s-1 within 0.1 s. The e-whisker can accurately monitor rainfall, human motion and object velocity. This work sheds light on the liquid metal viscosity-induced sensing mechanism and offers a novel strategy to fabricate high-performance velocity sensors.

Metastatic lymph nodes and prognosis assessed by the number of retrieved lymph nodes in gastric cancer.

BACKGROUND: The prognostic value of quantitative assessments of the number of retrieved lymph nodes (RLNs) in gastric cancer (GC) patients needs further study. AIM: To discuss how to obtain a more accurate count of metastatic lymph nodes (MLNs) based on RLNs in different pT stages and then to evaluate patient prognosis. METHODS: This study retrospectively analyzed patients who underwent GC radical surgery and D2/D2+ LN dissection at the Cancer Hospital of Harbin Medical University from January 2011 to May 2017. Locally weighted smoothing was used to analyze the relationship between RLNs and the number of MLNs. Restricted cubic splines were used to analyze the relationship between RLNs and hazard ratios (HRs), and X-tile was used to determine the optimal cutoff value for RLNs. Patient survival was analyzed with the Kaplan-Meier method and log-rank test. Finally, HRs and 95% confidence intervals were calculated using Cox proportional hazards models to analyze independent risk factors associated with patient outcomes. RESULTS: A total of 4968 patients were included in the training cohort, and 11154 patients were included in the validation cohort. The smooth curve showed that the number of MLNs increased with an increasing number of RLNs, and a nonlinear relationship between RLNs and HRs was observed. X-tile analysis showed that the optimal number of RLNs for pT1-pT4 stage GC patients was 26, 31, 39, and 45, respectively. A greater number of RLNs can reduce the risk of death in patients with pT1, pT2, and pT4 stage cancers but may not reduce the risk of death in patients with pT3 stage cancer. Multivariate analysis showed that RLNs were an independent risk factor associated with the prognosis of patients with pT1-pT4 stage cancer (P = 0.044, P = 0.037, P = 0.003, P < 0.001). CONCLUSION: A greater number of RLNs may not benefit the survival of patients with pT3 stage disease but can benefit the survival of patients with pT1, pT2, and pT4 stage disease. For the pT1, pT2, and pT4 stages, it is recommended to retrieve 26, 31 and 45 LNs, respectively.

Superhydrophobic E-textile with an Ag-EGaIn Conductive Layer for Motion Detection and Electromagnetic Interference Shielding.

As as emerging innovation, electronic textiles have shown promising potential in health monitoring, energy harvesting, temperature regulation, and human-computer interactions. To access broader application scenarios, numerous e-textiles have been designed with a superhydrophobic surface to steer clear of interference from humidity or chemical decay. Nevertheless, even the cutting-edge electronic textiles (e-textiles) still have difficulty in realizing superior conductivity and satisfactory water repellency simultaneously. Herein, a facile and efficient approach to integrate a hierarchical elastic e-textile is proposed by electroless silver plating on GaIn alloy liquid metal coated textiles. The continuous uneven surface of AgNPs and deposition of FAS-17 endow the textile with exceptional and robust superhydrophobic performance, in which the conductivity and the contact angle of the as-made textile could reach 2145 ± 122 S/cm and 161.5 ± 2.1°, respectively. On the basis of such excellent conductivity, the electromagnetic interference (EMI) shielding function is excavated and the average shielding efficiency (SE) reaches about 87.56 dB within frequencies of 8.2-12.4 GHz. Furthermore, due to its high elasticity and low modulus, the textile can serve as a wearable strain sensor for motion detection, health monitoring, and underwater message transmission. This work provides a novel route to fabricate high-performance hydrophobic e-textiles, in which the encapsulation strategy could be referenced for the further development of conductive textiles.

CNT-Strung LiMn2 O4 for Lithium Extraction with High Selectivity and Stability.

LiMn2 O4 is of great potential for selectively extracting Li+ from brines and seawater, yet its application is hindered by its poor cycle stability and conductivity. Herein a two-step strategy to fabricate highly conductive and stable CNT-strung LiMn2 O4 (CNT-s-LMO) is reported, by first stringing Mn3 O4 particles with multiwalled carbon nanotube (CNT), then converting the hybrids into CNT-s-LMO through hydrothermal lithiation. The as-synthesized CNT-s-LMO materials have a net-like structure with CNTs threading through LMO particles. This unique structure has endowed the CNT-s-LMO electrode with excellent conductivity, high specific capacitance, and enhanced rate performance. Because of this, the CNT-s-LMO electrode in the hybrid capacitive deionization cell (HCDI) can deliver a high Li+ extraction percentage (≈84%) in brine and an outstanding lithium selectivity with a separation factor of ≈181 at the Mg2+ /Li+ molar ratio of 60. Significantly, the CNT-s-LMO-based HCDI cell has a high stability, evidenced by 90% capacity retention and negligible Mn loss in 100 cycles. This method has paved a new way to fabricate carbon-enabled LMO-based absorbents with tuned structure and superior capacity for electrochemical lithium extraction with high Li+ selectivity and exceptional cycling stability, which may help to tackle the shortage in supply of Li-ion batteries in industry in the future.

Inhibition of the C3a receptor attenuates sepsis-induced acute lung injury by suppressing pyroptosis of the pulmonary vascular endothelial cells.

Acute lung injury (ALI) is the leading cause of bacterial sepsis-related death because of disrupted pulmonary endothelial barrier, resulting in protein-rich pulmonary oedema, an influx of pro-inflammatory cells and refractory hypoxaemia. Several studies have reported that C3a levels are significantly higher in organs with sepsis and their peripheral organs and are closely associated with organ dysfunction and poor prognosis in sepsis. However, the role of the C3a complement in sepsis ALI remains unclear. Therefore, this study aimed to investigate the important role and mechanism of C3a in preventing the occurrence of pyroptosis (a pro-inflammatory form of cell death) to protect the lung endothelial cells (ECs) in sepsis-induced ALI. A septic mouse model was established with cecal ligation and puncture (CLP), which demonstrated that C3a mediated EC pyroptosis through its C3aR receptor. Furthermore, inhibition of the C3a-C3aR axis could block both NLRP3/caspase-1 and caspase-11 pathways, thus preventing pulmonary EC from pyroptosis. These results indicate that inhibition of the C3A-C3AR complement axis can inhibit pulmonary vascular EC pyroptosis, a potential target for the treatment of ALI.

Controllable preparation of an ice cream-shaped hollow sphere array.

Hollow microspheres with high specific surface area are widely used in thermal insulation, drug delivery and sustained release, catalysis and optical absorption. Eutectic gallium-indium (EGaIn) undergoes phase transformation and oxidation when heated in aqueous solution, which can provide a crystal seed and preferential growth environment for nanomaterials. Therefore, it is very promising to further study the application of liquid metal in functional and structural nanomaterials. In this study, a EGaIn-based ice cream-shaped hollow sphere array with nanostructures was firstly synthesized on the designed hole array model using a hydrothermal process, and then the surface was further modified by fluorination to form a superhydrophobic film. Different sizes of the hollow Eutectic gallium-indium zinc oxide (EGaIn-ZnO) microspheres could be easily achieved by varying the size of the model, hence leading to controllable wettability. Furthermore, hollow microspheres hold much air, making it feasible for application in the field of anti-ice and thermal insulation.

HOXB9 blocks cell cycle progression to inhibit pancreatic cancer cell proliferation through the DNMT1/RBL2/c-Myc axis.

Homeobox B9 (HOXB9) is involved in the occurrence and development of malignant tumors. However, the functions and underlying molecular mechanisms of HOXB9 in pancreatic cancer have yet to be identified. In this study, we find that both HOXB9 mRNA and protein levels are down-regulated in pancreatic cancer tissues and cell lines. Kaplan-Meier survival plots of 150 pancreatic cancer cases show that higher expression of HOXB9 in pancreatic cancer patients is associated with higher survival rates. We also find that over-expression of HOXB9 inhibits pancreatic cancer cell proliferation both in cell lines and the nude mouse xenograft as well as PDX models. Applying cell cycle PCR array analysis, Flow CytoMetry, ChIP-qPCR, and luciferase experiments, we observe that HOXB9 blocks cell cycle progression in the G0/G1 phase via up-regulating RBL2 and inhibiting c-Myc, and we further find that DNMT1 inhibits the expression of HOXB9 in pancreatic cancer by promoting the methylation of its promoter. Our findings highlight a novel mechanism of the DNMT1/HOXB9/RBL2/c-Myc pathway in regulating the cell cycle and proliferation of pancreatic cancer cells and provide a research basis for the prognosis and therapeutic application of HOXB9 in pancreatic cancer.

Design of a flexible surface/interlayer for packaging.

Impact resistance and thermal insulation are important factors to be considered in the fields of encapsulation and drug transportation. In this study, a classic circular sleeve structure is designed by integrating the multi-level surface topography of the sleeve and a hollow sandwich in the wall, which effectively improves the energy absorption efficiency and thermal insulation effect. With the increase of the levels of surface structure, the stiffness of the whole structure and the stress on the topmost structure decreases, which is conducive to protecting the structure. In addition, the thermal conduction efficiency can be limited and the heat preservation ability would be improved as the reduction of the contacting area of packages with internal objects is attributed to such specific topography. Moreover, the synergistic effect of the hollow sandwich further enhances the advantages of mechanics and heat insulation. Based on the findings of this study, this novel design has potential applications in fields such as thermal insulation, packaging, and pharmaceuticals.

Engineering single-atom Fe-Pyridine N4 sites to boost peroxymonosulfate activation for antibiotic degradation in a wide pH range.

Single-atom Fe catalysts have shown great potential for Fenton-like technology in organic pollutant decomposition. However, the underlying reaction pathway and the identification of Fe active sites capable of activating peroxymonosulfate (PMS) across a wide pH range remain unknown. We presented a novel strategy for deciphering the production of singlet oxygen (1O2) by regulating the Fe active sites in this study. Fe single atoms loaded on nitrogen-doped porous carbon (FeSA-CN) catalysts were synthesized using a cage encapsulation method and compared to Fe-nanoparticle-loaded catalysts. It was discovered that FeSA-CN catalysts served as efficient PMS activators for pollutant decomposition over a wide pH range. Several analytical measurements and density functional theory calculations revealed that the pyridinic N-ligated Fe single atom (Fe-pyridine N4) was involved in the production of 1O2 by the binding of two PMS ions, resulting in an excellent catalytic performance for PMS adsorption/activation. This work has the potential to not only improve the understanding of nonradical reaction pathway but to also provide a generalizable method for producing highly stable PMS activators with high activity for practical wastewater treatment.

A Robust Algorithm Based on Link Label Propagation for Identifying Functional Modules From Protein-Protein Interaction Networks.

Identifying functional modules in protein-protein interaction (PPI) networks elucidates cellular organization and mechanism. Various methods have been proposed to identify the functional modules in PPI networks, but most of these methods do not consider the noisy links in PPI networks. They achieve a competitive performance on the PPI networks without noisy links, but the performance of these methods considerably deteriorates in the noisy PPI networks. Furthermore, the noisy links are inevitable in the PPI networks. In this paper, we propose a novel link-driven label propagation algorithm (LLPA) to identify functional modules in PPI networks. The LLPA first find link clusters in PPI networks, and then the functional modules are identified from the link clusters. Two strategies aimed to ensure the robustness of LLPA are proposed. One strategy involves the proposed LLPA updating the link labels in accordance with the designed weight of the link, which can reduce the incidence of noisy links. The other strategy involves the filtration of some noisy labels from the link clusters to further reduce the influence of noisy links. The performance evaluation on three real PPI networks shows that LLPA outperforms other eight state-of-the-art detection algorithms in terms of accuracy and robustness.

TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.

BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one-third of PKD patients are attributed to proline-rich transmembrane protein 2 (PRRT2) mutations. OBJECTIVE: We aimed to explore the potential causative gene for PKD. METHODS: A cohort of 196 PRRT2-negative PKD probands were enrolled for whole-exome sequencing (WES). Gene Ranking, Identification and Prediction Tool, a method of case-control analysis, was applied to identify the candidate genes. Another 325 PRRT2-negative PKD probands were subsequently screened with Sanger sequencing. RESULTS: Transmembrane Protein 151 (TMEM151A) variants were mainly clustered in PKD patients compared with the control groups. 24 heterozygous variants were detected in 25 of 521 probands (frequency = 4.80%), including 18 missense and 6 nonsense mutations. In 29 patients with TMEM151A variants, the ratio of male to female was 2.63:1 and the mean age of onset was 12.93 ± 3.15 years. Compared with PRRT2 mutation carriers, TMEM151A-related PKD were more common in sporadic PKD patients with pure phenotype. There was no significant difference in types of attack and treatment outcome between TMEM151A-positive and PRRT2-positive groups. CONCLUSIONS: We consolidated mutations in TMEM151A causing PKD with the aid of case-control analysis of a large-scale WES data, which broadens the genotypic spectrum of PKD. TMEM151A-related PKD were more common in sporadic cases and tended to present as pure phenotype with a late onset. Extensive functional studies are needed to enhance our understanding of the pathogenesis of TMEM151A-related PKD. © 2021 International Parkinson and Movement Disorder Society.