| 1. |
|
|
| 2. |
|
|
| 3. |
- Cheng, Ye, et al.
(författare)
-
Genetic variants in the HLA region contribute to the risk of cerebral palsy
- 2024
-
Ingår i: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. - 0925-4439 .- 1879-260X. ; 1870:3
-
Tidskriftsartikel (refereegranskat)abstract
- Cerebral palsy (CP) is the most common physical disability in childhood, and genetic factors play an important role in its pathogenesis. However, the genetic contributions remain incompletely elucidated. Here, we conducted a two-stage association study between 1090 CP cases and 1100 healthy controls after whole exome sequencing. The human leukocyte antigen (HLA) allelic predispositions were further analyzed in overall CP and subgroups using multivariate logistic regression. We found a strong signal in the HLA region on chromosome 6, where rs3131787 harbored the most significant association with CP (P = 2.05 x 10-14, OR = 2.22). In comparison to controls, the carrier frequencies of HLA-B*13:02 were significantly higher in children with CP (9.82 % in control vs 19.27 % in CP, P = 1.03 x 10-4, OR = 2.17). Furthermore, the effect of HLA-B*13:02 on increasing the risk of CP mainly existed in cryptogenic CP without exposure to premature birth, low birth weight, birth asphyxia, or periventricular leukomalacia. This study indicated a strong association of HLA variants with CP, which implied that immune dysregulation resulting from immunogenetic variants might underlie the pathogenesis of CP. Our findings provide genetic evidence that an immunomodulator may serve as a promising therapeutic intervention for patients with CP by reinstating the neuroinflammation hemostasis.
|
|
| 4. |
- Foox, Jonathan, et al.
(författare)
-
The SEQC2 epigenomics quality control (EpiQC) study
- 2021
-
Ingår i: Genome Biology. - : BioMed Central (BMC). - 1465-6906 .- 1474-760X. ; 22:1
-
Tidskriftsartikel (refereegranskat)abstract
- BackgroundCytosine modifications in DNA such as 5-methylcytosine (5mC) underlie a broad range of developmental processes, maintain cellular lineage specification, and can define or stratify types of cancer and other diseases. However, the wide variety of approaches available to interrogate these modifications has created a need for harmonized materials, methods, and rigorous benchmarking to improve genome-wide methylome sequencing applications in clinical and basic research. Here, we present a multi-platform assessment and cross-validated resource for epigenetics research from the FDA’s Epigenomics Quality Control Group.ResultsEach sample is processed in multiple replicates by three whole-genome bisulfite sequencing (WGBS) protocols (TruSeq DNA methylation, Accel-NGS MethylSeq, and SPLAT), oxidative bisulfite sequencing (TrueMethyl), enzymatic deamination method (EMSeq), targeted methylation sequencing (Illumina Methyl Capture EPIC), single-molecule long-read nanopore sequencing from Oxford Nanopore Technologies, and 850k Illumina methylation arrays. After rigorous quality assessment and comparison to Illumina EPIC methylation microarrays and testing on a range of algorithms (Bismark, BitmapperBS, bwa-meth, and BitMapperBS), we find overall high concordance between assays, but also differences in efficiency of read mapping, CpG capture, coverage, and platform performance, and variable performance across 26 microarray normalization algorithms.ConclusionsThe data provided herein can guide the use of these DNA reference materials in epigenomics research, as well as provide best practices for experimental design in future studies. By leveraging seven human cell lines that are designated as publicly available reference materials, these data can be used as a baseline to advance epigenomics research.
|
|
| 5. |
- Hong, Li, et al.
(författare)
-
Thiocyanate-Mediated Dimensionality Transformation of Low- Dimensional Perovskites for Photovoltaics
- 2022
-
Ingår i: Chemistry of Materials. - : American Chemical Society (ACS). - 0897-4756 .- 1520-5002. ; 34:14, s. 6331-6338
-
Tidskriftsartikel (refereegranskat)abstract
- Two-dimensional (2D) hybrid perovskite solar cells have induced widespread research interest owing to their higher stability as compared to three-dimensional (3D) analogues. The photovoltaic performance, however, is still limited. Here, we report a perovskite film dominated by 3D components that are modulated by formamidinium thiocyanate in the 2D PEA(2)FA(3)Pb(4)I(13) perovskite composition. We demonstrate that a dimensionality transformation from a 2D/3D to predominantly 3D perovskite phase in the presence of SCN-based treatment enhances the optical absorption in visible and near-infrared regions. As a result, the power conversion efficiency improved 4.5 times with respect to the control to above 14%. The unencapsulated cell exhibited excellent moisture stability during the shelf lifetime measurement over 70 days under ambient conditions.
|
|
| 6. |
- Wang, Yangong, et al.
(författare)
-
TEP1 is a risk gene for sporadic cerebral palsy
- 2021
-
Ingår i: Journal of genetics and genomics. - : Elsevier BV. - 1673-8527. ; 48:12, s. 1134-1138
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 7. |
- Hongwei, Wang, et al.
(författare)
-
Ontology supporting Model-based Systems Engineering based on a GOPPRR approach
- 2019
-
Ingår i: WorldCist'19 - 7th World Conference on Information Systems and Technologies. - Cham : Springer. - 9783030161804 ; , s. 426-436
-
Konferensbidrag (refereegranskat)abstract
- Model-based systems engineering (MBSE) has become a new trend in systems engineering. The core of MBSE is the use of models to formalize product development and the product itself (requirement, architecture, etc.) using different languages throughout the entire lifecycle. However, different tools based on different modeling languages in each development phase lead to considerable deviations during information sharing between the models. In this paper, a GOPPRR approach is proposed to describe system characteristics and system development based on meta-models for different architecture descriptions using meta-meta models including Graph, Object, Point, Property, Role, and Relationship. Moreover, ontology based on W3C Web Ontology Language (OWL) is designed to support the GOPPRR approach for unified model representations and further to implement model integration in the entire lifecycle. Finally, the feasibility of the GOPPRR approach and the ontology formalism supporting MBSE is verified through an auto-braking case of an autonomous driving system.
|
|
| 8. |
- Ji, Zhenbing, et al.
(författare)
-
Effects of surface morphology and composition of titanium implants on osteogenesis and inflammatory responses : a review
- 2023
-
Ingår i: Biomedical Materials. - : IOP Publishing. - 1748-6041 .- 1748-605X. ; 18:4
-
Forskningsöversikt (refereegranskat)abstract
- Titanium and its alloys have been widely used in bone tissue defect treatment owing to their excellent comprehensive properties. However, because of the biological inertness of the surface, it is difficult to achieve satisfactory osseointegration with the surrounding bone tissue when implanted into the body. Meanwhile, an inflammatory response is inevitable, which leads to implantation failure. Therefore, solving these two problems has become a new research hotspot. In current studies, various surface modification methods were proposed to meet the clinical needs. Yet, these methods have not been classified as a system to guide the follow-up research. These methods are demanded to be summarized, analyzed, and compared. In this manuscript, the effect of physical signal regulation (multi-scale composite structure) and chemical signal regulation (bioactive substance) generated by surface modification in promoting osteogenesis and reducing inflammatory responses was generalized and discussed. Finally, from the perspective of material preparation and biocompatibility experiments, the development trend of surface modification in promoting titanium implant surface osteogenesis and anti-inflammatory research was proposed.
|
|
| 9. |
- Mao, Hongwei, et al.
(författare)
-
A novel pipe structure for geyser elimination in a vertical cryogenic pipe
- 2021
-
Ingår i: International Journal of Heat and Mass Transfer. - : Elsevier BV. - 0017-9310. ; 178
-
Tidskriftsartikel (refereegranskat)abstract
- In the present study, according to the recirculation concept, a new elimination structure for the geyser in a cryogenic pipe is proposed. An eccentric spacer plate is used to stimulate the recirculation inside the cryogenic pipe. The geyser-elimination effect of the proposed structure is then validated and the elimination physics is explored. It is found that the geyser is successfully eliminated by the stimulated recirculation. The main reason for the geyser elimination effect is the breakdown of the energy storage pattern along the axial direction of the pipe. Compared to the conventional structure, the total weight of the pipe system can be reduced by 25% in the new proposed structure. Moreover, the total heat input can also be reduced by as much as 40%. Furthermore, it is found that the system recirculation ability increases with increasing heat flux. The geyser elimination performance is validated to be effective under a wide heat flux range. Most importantly, the length of the bottom gap in the proposed structure has a critical effect on the geyser elimination since the ability to break down the energy storage becomes weaker as the gap length increases. In order to realize the geyser elimination effect, the bottom gap length is recommended to be 200 mm.
|
|
| 10. |
- Shao, Mingjiao, et al.
(författare)
-
High-Performance Biodegradable Energy Storage Devices Enabled by Heterostructured MoO3-MoS2 Composites
- 2023
-
Ingår i: Small. - : Wiley-VCH Verlagsgesellschaft. - 1613-6810 .- 1613-6829. ; 19:10
-
Tidskriftsartikel (refereegranskat)abstract
- Biodegradable implantable devices are of growing interest in biosensors and bioelectronics. One of the key unresolved challenges is the availability of power supply. To enable biodegradable energy-storage devices, herein, 2D heterostructured MoO3–MoS2 nanosheet arrays are synthesized on water-soluble Mo foil, showing a high areal capacitance of 164.38 mF cm−2 (at 0.5 mA cm−2). Employing the MoO3–MoS2 composite as electrodes of a symmetric supercapacitor, an asymmetric Zn-ion hybrid supercapacitor, and an Mg primary battery are demonstrated. Benefiting from the advantages of MoO3–MoS2 heterostructure, the Zn-ion hybrid supercapacitors deliver a high areal capacitance (181.86 mF cm−2 at 0.5 mA cm−2) and energy density (30.56 µWh cm−2), and the Mg primary batteries provide a stable high output voltage (≈1.6 V) and a long working life in air/liquid environment. All of the used materials exhibit desirable biocompatibility, and these fabricated devices are also fully biodegradable. Demonstration experiments display their potential applications as biodegradable power sources for various electronic devices.
|
|
