State Key Laboratory of Medical Genetics of China
Recent publications
Key message qFT.A02-1, a major quantitative trait locus controlling flowering time in Brassica napus, was mapped to a 104.8-kb region on chromosome A02, and BnaA02G0156900ZS is the candidate gene in response for flowering time. Abstract Flowering time is a key agronomic trait that determines the adaptability of crops to the environment and thus affects yields. The mechanism underlying flowering time is still far from clear in Brassica napus. In this study, a recombinant inbred line population composed of 215 lines was constructed and 35 flowering time QTLs were identified. One major QTL, qFT.A02-1 (explaining 16.40–17.80% of phenotypic variation), was detected in two environments, which was confirmed by QTL-seq. A residual heterozygous line containing qFT.A02-1 for flowering time was further constructed, and qFT.A02-1 was subsequently fine-mapped to a 104.8-kb interval, wherein a total of 11 genes were predicted. Candidate gene functional annotation implied that BnaA02G0156900ZS, a homologous gene of FLOWERING LOCUS T in B. napus, was likely the candidate gene for qFT.A02-1. HiFi sequencing of the two parents was subsequently conducted, and a 1,079-bp insertion in the promoter of BnaA02. FT was confirmed. The allelic variation analysis in a diversity of accessions identified another 6 SNPs existing in the non-coding region of BnaA02. FT and the 1,079-bp insertion in promoter region are closely associated with the flowering time in B. napus. Haplotype analysis indicated that the flowering time of Hap02 is significantly earlier than Hap01 and Hap04, and Hap05 is significantly earlier than Hap04. Yield-related trait analysis revealed that there are no significant differences in yield-related traits between the two near-isogenic lines based on the target locus. These results may advance our understanding of the mechanism underlying flowering time in B. napus.
The carotenoid cleavage oxygenases (CCOs), which include 9-cis-epoxycarotenoid dioxygenases (NCEDs) and carotenoid cleavage dioxygenases (CCDs), are essential for the conversion of carotenoids into apocarotenoids. However, a comprehensive genome-wide identification of the CCO gene family in crape myrtle (Lagerstroemia indica) has not yet been conducted. Our investigation identified 15 CCOs in L. indica, which were categorized into 8 LiCCDs and 7 LiNCEDs. Phylogenetic analysis further classified the LiCCOs into 5 distinct groups: CCD1/4/7/8 and NCED. In addition, LiCCOs clustered into the same clades shared similar exon/intron structures and conserved motifs. Syntenic analysis revealed that segmental and tandem duplication events have played a significant role in the expansion of LiCCOs. The regulatory network involving transcription factors (TFs), including bHLH, MYB, and NAC as putative interacting factors, suggested their involvement in the modulation of LiCCO expression. RNA-sequencing analysis revealed that certain LiCCOs exhibit markedly different expression patterns in response to salt stress. Moreover, LiCCOs were involved in the regulation of branching architecture and flower color biosynthesis in L. indica. Gene expression patterns revealed that LiCCOs are significantly affected by mannitol or NaCl stress. The comprehensive genome-wide identification and expression analysis of LiCCOs offer new insights for further studies on the characterization and function.
Aflatoxin B1 (AFB1) and zearalenone (ZEN) are the most prevalent mycotoxins in production, posing a serious threat to human and animal health. Therefore, it is very urgent to find a safe and efficient method for the biodegradation of these mycotoxins. Our previous study demonstrated that Bacillus subtilis ZJ-2019–1 moderately degrades both mycotoxins in vitro and ZEN in female gilts. In this study, we assessed the effect of B. subtilis ZJ-2019–1 on AFB1 and ZEN degradation in naturally moldy corn gluten meal in a gastrointestinal environment while also evaluating the cytotoxicity of degradation products using the Cell Counting Kit-8 (CCK-8) assay. The efficacy of B. subtilis in degrading mycotoxins was further evaluated by orally administering 5 mg/kg AFB1 and 50 mg/kg ZEN to mice, followed by treatment with B. subtilis ZJ-2019–1 for 15 d. The results showed that B. subtilis ZJ-2019–1 moderately degraded both AFB1 and ZEN present in naturally moldy corn gluten meal in simulated small intestinal fluids, with degradation rates reaching 14.71% for AFB1 and 19.53% for ZEN respectively. Following degradation by B. subtilis ZJ-2019–1, the toxicity of resulting products from both AFB1 and ZEN decreased by 11.68–46.41% and 42.62–59.25%, respectively. Moreover, oral administration of B. subtilis ZJ-2019–1 exhibited remarkable detoxification effects on AFB1 and ZEN in mice, as evidenced by significant restoration of abnormal serum biochemical indices (including aspartate aminotransferase/alanine transaminase, alkaline phosphatase, total cholesterol, etc.) and alleviation of liver, intestine, and uterine damage caused by mycotoxins in mice. These findings indicate that B. subtilis ZJ-2019–1 possesses the ability to moderately degrade both AFB1 and ZEN, making it a promising candidate for biodegrading multi-mycotoxin contaminants in food and feed.
Aims Rootstocks are widely used in viticulture. Understanding the impact of rootstocks on the structure and function of grapevine rhizosphere microbiota is essential for manipulating them toward the sustainable development of vineyard. Methods We investigated the changes in biomass, soil properties, and rhizosphere microbiome after Vitis vinifera L. cv. Cabernet Sauvignon (CS) grafted onto five rootstock cultivars [Kober 5BB (5BB), Richer 110 (110R), Beta, Riparia Gloire (RG) and Millardet et de Grasset 101–14 (101–14)]. The grapevines were exhumed for biomass measurements and rhizosphere soils were collected for testing the microbiome and soil properties. The rhizosphere microbiome was analysed using the 16S rRNA gene and ITS amplicon sequencing, and the functional annotations were performed using FAPROTAX and FUNGuild database. Results Rootstocks could selectively recruit microbial communities of specific structures, especially fungi. Rootstocks significantly affected the richness and diversity of the fungal community, while significantly altering the composition of the fungal community at the phylum level. The microbial communities associated with the different rootstocks further formed the different function profiles. The grapevine biomass and the soil minerals in the same vineyard were significantly associated with the root genotypes. Conclusions This study highlighted the influence of rootstocks on grapevine and soil environment. The results of this study will provide useful information for vineyard rootstock selection when the microbiological environment of the vineyard needs to be considered. At the same time, new insights into the interactions between the environment, microbiome and grapevine growth were provided.
Background Polydactyly is a prevalent limb deformity with an autosomal dominant inheritance pattern, manifesting in both syndromic and nonsyndromic forms. It exhibits significant etiological and clinical diversity. This study aims to identify the pathogenic cause in two patients with sub‐PHS (sub‐Pallister–Hall Syndrome) and PAP (postaxial polydactyly), respectively, from two Chinese pedigrees. Methods Exome sequencing was performed on patients to screen for potential pathogenic variants. Subsequently, these variants were validated by Sanger sequencing. The c.3342dupC and c.4431dupT mutant plasmids were transfected into HEK293T cells, and the effects of GLI3 mutations on transcription and protein levels were analyzed via qRT‐PCR and Western blot. Additionally, Swiss Model was utilized to predict the effects of mutations on protein tertiary structure. Results The mutations of GLI3 (NM_000168.6: c.3342dupC; p. A1115Rfs*14) (NM_000168.6: c.4431dupT; p. Glu1478Ter) were identified in affected individuals. These mutations were present exclusively in the patients and absent in the healthy individuals. No significant difference in transcription levels between the mutations and wild type was observed. Functional analysis revealed that the truncated variants p. A1115Rfs*14 and p. Glu1478Ter exhibited reduced molecular weight and potential functional impairment due to protein retention. Conclusion The mutations p. A1115Rfs*14 and p. Glu1478Ter in GLI3 may account for sub‐PHS and PAP in the two patients, respectively. This finding expands the mutation and phenotype spectrum associated with GLI3, providing valuable insights for the clinical diagnosis of polysyndactyly.
Biological age is an important measure of aging that reflects an individual’s physical health and is linked to various diseases. Current prediction models are still limited in precision, and the risk factors for accelerated aging remain underexplored. Therefore, we aimed to develop a precise biological age and assess the impact of socio-demographic and behavioral patterns on the aging process.We utilized Deep Neural Networks (DNN) to construct biological age from participants with physical examinations, blood samples, and questionnaires data from the China Kadoorie Biobank (CKB) between June 2004 and December 2016. △age, calculated as the residuals between biological age and chronological age, was used to investigate the associations of age acceleration with diseases. Socio-demographics (gender, education attainment, marital status, household income) and lifestyle characteristics (body mass index [BMI], smoking, drinking, physical activity, and sleep) were also assessed to explore their impact on age acceleration. 18,261 participants aged 57 ± 10 years were included in this study. The DNN-based biological age model has demonstrated accurate predictive performance, achieving a mean absolute error of 3.655 years. △age was associated with increased risks of various morbidity and mortality, with the highest associations found for circulatory and respiratory diseases, with hazard ratios of 1.033 (95% CI: 1.023, 1.042) and 1.078 (95% CI: 1.027, 1.130), respectively. Socio-demographics, including being female, lower education, widowed or divorced, and low household income, along with behavioral patterns, such as being underweight, insufficient physical activity, and poor sleep, were associated with accelerated aging. Our DNN model is capable of constructing a precise biological age using commonly collected data. Socio-demographics and lifestyle factors were associated with accelerated aging, highlighting that addressing modifiable risk factors can effectively slow age acceleration and reduce disease risk, providing valuable insights for interventions to promote healthy aging.
Fusarium species, recognised as global priority pathogens, frequently induce severe diseases in crops; however, certain species exhibit alternative symbiotic lifestyles and are either non-pathogenic or endophytic. In this study, we characterised the mutualistic relationship between the eFp isolate of F. pseudograminearum and five poplar species, resulting in formation root structures reminiscent of ectomycorrhizal (ECM) symbiosis. This functional symbiosis is evidenced by enhanced plant growth, reciprocal nutrient exchange, improved nitrogen and phosphorus uptake and upregulation of root sugar transporter gene expression (PtSweet1). Comparative and population genomics confirmed that eFp maintains a structurally similar genome, but exhibits significant divergence from ten conspecific pathogenic isolates. Notably, eFp enhanced the growth of diverse plant lineages (Oryza, Arabidopsis, Pinus and non-vascular liverworts), indicating a near-complete loss of virulence. Although this specialised symbiosis has only been established in vitro, it holds significant value in elucidating the evolutionary track from endophytic to mycorrhizal associations.
Babesia gibsoni is the infectious agent of canine babesiosis, a vector-borne infection that poses a global threat to the canine health. As B. gibsoni is an erythrocytic intracellular parasite, the completion of its genome and transcriptome sequencing and analysis facilitates the elucidation of the mechanism of B. gibsoni residue in the erythrocyte. The main function of red blood cells (RBCs) is oxygen delivery; thus, B. gibsoni may be exposed to high levels of oxidative stress. To date, no report is available on the mechanism by which B. gibsoni survives oxidative stress inside the RBCs. In this study, the thioredoxin peroxidase, an important type of peroxidoxin, was identified from B. gibsoni, with 255 amino acids and a molecular weight of 27.7 kDa. There are two conserved “VCP” domains at the N- and C-termini, respectively, indicating that this gene was a 2-Cys peroxiredoxin belonging to the PTZ00137 superfamily. It was named BgTPx-2 and was detected to be located in the B. gibsoni-infected erythrocytes through an indirect immunofluorescence assay using the polyclonal antibody against the recombinant TPx-2. Additionally, its antioxidant activity was analyzed by mixed-function oxidation assay, and BgTPx-2 could protect the pBluescript SK ( +) plasmid from oxidative damage, suggesting an antioxidant function of BgTPx-2. Moreover, the immunogenicity of BgTPx-2 was tested by Western blotting and ELISA using the serum of beagle dogs infected with B. gibsoni, and the positive serum exhibited a detectable and significant antibody response against BgTPx-2 on day 4 and day 9 post-infection, respectively.
Chromosome synapsis is an evolutionarily conserved process essential for meiotic recombination. HORMAD1 and HORMAD2, which monitor chromosome asynapsis by localizing to unsynapsed chromosome axes, are removed from synapsed chromosome axes by TRIP13, though the biological significance of this process remains unclear. We show that when HORMAD1 and HORMAD2 are retained on synapsed chromosome axes, they recruit BRCA1, activate chromosome asynapsis checkpoint, and trigger oocyte elimination. Unexpectedly, N-terminal tagging retains HORMAD1 and HORMAD2 on synapsed chromosome axes without triggering oocyte elimination due to defective BRCA1 recruitment. Mechanistically, HORMAD1 co-immunoprecipitates with BRCA1 readily, not through the canonical closure motif-binding mode but via an interface on its HORMA domain near the N-terminus. HORMAD2 co-immunoprecipitates with BRCA1 weakly but also regulates its recruitment. Collectively, the TRIP13-dependent removal of HORMAD1 and HORMAD2 from synapsed chromosome axes is essential for female fertility, preventing aberrant chromosome asynapsis checkpoint activation and unintended oocyte elimination.
Given the significant mental health challenges faced by the aging population, this study aimed to identify key predictors of mood disturbances among older adults, focusing on socioeconomic, health, and cognitive factors. This post-hoc analysis utilized publicly available data from the National Health and Aging Trends Study (NHATS), a nationally representative longitudinal cohort study conducted in the United States. The analysis included 2,820 adults aged 65 years and above who were followed for three years (age average range 75–79 years, 54.7% female). During the follow-up period, 21.8% of participants developed new-onset mood disturbances. High-income status is associated with decreased risk (OR 0.71, 95% CI 0.52–0.96), while being Black showed a risk effect compared to White participants (OR 1.38, 95% CI 1.06–1.29). With not good health status (OR 1.58, 95% CI 1.04–2.41), without presence of diabetes (OR 0.74, 95% CI 0.58–0.95), and poor memory status (OR 2.14, 95% CI 1.10–4.15) were significant predictors. Without fear of falling (OR 0.77, 95% CI 0.61–0.97) and increased physical performance (OR 0.94, 95% CI 0.91–0.98) also decreased risk. Income-stratified analysis revealed that low-income groups were particularly affected by cognitive function, middle-income by health status, and high-income by physical activity levels. Socioeconomic status, race, health conditions, and cognitive function are significant predictors of mood disturbances in older adults. These findings suggest the importance of developing targeted interventions based on income levels and addressing modifiable risk factors.
Objective Due to rapid economic development and the unique lifestyles, cultures and customs of Hangzhou, non-alcoholic fatty liver disease (NAFLD) has attracted widespread attention, with a prevalence rate of 35–45%. In this study, we used the Chinese version of the Chronic Liver Disease Questionnaire for NAFLD (CLDQ-NAFLD) to investigate the current health-related quality of life (HRQL) among patients with NAFLD and analyse the influencing factors, which provides a reference for improving the patients’ HRQL. Design A cross-sectional design. Setting This study was conducted from March 2022 to March 2023 at a tertiary hospital in Hangzhou. Participants All patients with NAFLD included in this study were diagnosed using FibroScan, with a controlled attenuation parameter ≥248 dB/m. Primary outcome measures The primary outcome of the study was the HRQL score, which was assessed using the Chinese version of the CLDQ-NAFLD. Results A total of 502 patients with NAFLD were enrolled in this study (mean age 1.79±13.49 years; 69.7% male). The overall HRQL score was 5.89 (5.33, 6.36), and the fatigue dimension score was the lowest at 5.17 (4.33, 6.00). Multiple linear regression analyses revealed that poor HRQL score was correlated with other marital status (β=−0.096, p=0.036), liver stiffness ≥10.3 (kPa) (β=−0.110, p=0.017), regular exercise (β=−0.121, p=0.006), sex (β=−0.114, p=0.012) and alanine transaminase (ALT) levels (β=−0.139, p=0.002). A monthly income >10 000 (renminbi) was associated with a significantly higher HRQL score. Conclusions This cross-sectional survey conducted in Hangzhou, China, revealed that HRQL is impaired among patients with NAFLD. This study revealed a significant association between HRQL and sociodemographic factors, including sex, monthly income and marital status, alongside clinical factors such as liver stiffness, regular exercise and ALT level. Emphasising optimal care management is essential to improve HRQL in patients with NAFLD.
Background Women are particularly vulnerable to depression during pregnancy, which is one of the strongest risk factors for developing postpartum depression (PPD). Addressing antenatal depressive symptoms in these women is crucial for preventing PPD. However, little is known about the effectiveness of internet-based cognitive behavioral therapy (ICBT) in preventing PPD in this high-risk group. Objective This study aims to evaluate the short- and long-term effects of ICBT in preventing PPD among women with antenatal depressive symptoms. Methods Participants were screened for antenatal depressive symptoms using the Edinburgh Postnatal Depression Scale (EPDS) and randomly allocated (1:1) to either the ICBT group (receiving weekly online modules starting antenatally and continuing into early postpartum) or the control group (observed without treatment). Follow-up assessments were conducted up to 12 months postpartum, and data were analyzed using generalized estimating equations. The primary outcome was the prevalence of depressive symptoms at 6 weeks postpartum. A subgroup analysis based on the severity of antenatal depressive symptoms was also performed. The secondary outcomes included the long-term effects of ICBT on maternal depression, as well as its impact on anxiety, sleep quality, social support, parenting stress, co-parenting relationships, and infant development. Results Between August 2020 and September 2021, 300 pregnant individuals were recruited from 5 centers across China. No significant differences were observed in depressive symptoms at 6 weeks postpartum (P=.18) or at any longer-term follow-up time points (P=.18). However, a post hoc subgroup analysis showed that participants with antenatal EPDS scores of 10-12 in the ICBT group had a lower risk of developing depression during the first year postpartum (odds ratio 0.534, 95% CI 0.313-0.912; P=.02), but this was not observed for participants with more severe depression. Additionally, this subgroup demonstrated higher levels of co-parenting relationships (P=.02). Conclusions Among individuals with antenatal depression, ICBT did not prevent the development of PPD. However, ICBT may be a preferable option for those with mild to moderate antenatal depressive symptoms. Future research is needed to explore modifications to ICBT to address more severe depressive symptoms. Trial Registration Chinese Clinical Trial Registry ChiCTR2000033433; https://www.chictr.org.cn/showproj.html?proj=54482 International Registered Report Identifier (IRRID) RR2-10.1186/s13063-022-06728-5
Background The mechanisms driving the progression of moyamoya disease (MMD) remain unrecognized. There is evidence suggesting that genetic and environmental factors may be associated with intracranial artery stenosis. Here, we aimed to investigate the characteristics of infectious exposure and the association of the RNF213 (RING finger protein 213) variant and infectious burden (IB) with intracranial artery stenosis of MMD. Methods and Results We prospectively recruited 275 patients with MMD. Participants underwent RNF213 p.R4810K sequencing. Serum antibody titers of herpes simplex virus, cytomegalovirus, toxoplasma, rubella virus, and Epstein‐Barr virus were assessed and combined into an IB score. The degree of intracranial artery stenosis was measured by using the Willis narrowing score (WNS), which was then dichotomized as mild and severe. Multivariate regression analyses were performed to analyze variables associated with severe WNS. Patients with the RNF213 variant had a higher risk of severe WNS than wild‐type individuals ( P =0.003). Patients with MMD with severe WNS showed an increased level of IB score ( P <0.001). The RNF213 variant (odds ratio [OR], 2.832 [95% CI, 1.347–5.955]; P =0.006) and IB score (OR, 1.771 [95% CI, 1.286–2.439]; P <0.001) were significantly associated with severe WNS after adjusting for covariates. Furthermore, the associations between IB score and severe WNS were more prominent among patients with modifiable risk factors of elevated body mass index ( P interaction <0.001), triglycerides ( P interaction =0.011), and homocysteine ( P interaction =0.016). Conclusions This study outlined a perspective of the genetic‐environmental interactions in the progression of MMD. The RNF213 variant and increased IB were associated with intracranial artery stenosis in MMD. The study will provide novel insights into the mechanism of disease progression, which may offer opportunities for early intervention of infectious exposure in MMD.
Data streaming is an ordered sequence of data continuously generated over time, whose dynamic scale is hard to be predicated in advance. Since the traditional integrity verification primitives are not qualified to check the integrity of the retrieved data and the outsourced database in streaming setting, some specific schemes were proposed by adopting the tree- like authentication structure or the combination of signature and accumulator. However, these schemes are not optimal for the owner. The main concerns can be generalized as how to reduce the size of the authentication information to be less than the scale of the data streaming, and enable the resource-constrained owner to check the data integrity without using challenge. To address the problems, we intend to find a new approach to design the scheme by exploiting the novel technique called decentralized vector commitment (DVC). Towards this goal, we first propose a key exposure-freeness chameleon vector commitment scheme, and then present the efficient DVC technique based on our key exposure-freeness chameleon vector commitment scheme. The scheme is finally constructed by leveraging the efficient DVC technique. Besides the integrity verification, our scheme is also sufficient to efficiently distribute the data to a user who is protected from receiving the stale data. To optimize the performance in concurrently retrieving multiple data, we introduce the batch query that reduces large amounts of communication and computation overheads. The security analysis and performance evaluation show that our solutions are secure and efficient.
Background Sepsis, a grave systemic infection, presents substantial health challenges. While insulin resistance frequently occurs in sepsis conditions, its relationship with sepsis‐associated delirium remains insufficiently explored. Aim This study aimed to explore the causal effect between the triglyceride glucose (TyG) index and its risk of delirium in patients with sepsis through the use of causal inference. Study Design A cohort of 5461 sepsis patients admitted to the intensive care unit (ICU) was selected from the Medical Information Mart for Intensive Care IV database. Patients were grouped into high TyG (≥9.48) and low TyG (<9.48) categories. Propensity score matching was applied to control for confounders, and the average treatment effect on the treated was calculated. Results Of the 5461 patients, 59.6% experienced delirium. The incidence of delirium was higher in the high TyG group (1751 patients; 66.6%) than in the low TyG group (56.3%) ( p < .001). The results of the logistic regression analysis indicated that the risk of delirium was significantly higher in the high TyG group (adjusted odds ratio 1.34, 95% confidence interval: 1.16–1.53). Following matching, the delirium risk increased by 6.9% in the high TyG group ( T = 3.29), a finding that was confirmed by a Rosenbaum sensitivity analysis. Conclusions The TyG index represents a straightforward and efficacious instrument for nursing staff to ascertain the likelihood of delirium in patients with sepsis during the routine monitoring of their condition. The ability to make causal inferences in observational studies provides a novel approach to research. Relevance to Clinical Practice The TyG index represents a readily applicable instrument for ICU nurses to identify the risk of delirium in sepsis patients. This enables the possibility of early intervention in high‐risk individuals and the optimization of care outcomes.
Sedentary behavior has emerged as a potential risk factor for various health issues, including hormonal imbalances like testosterone deficiency (TD). However, the relationship between sedentary time and TD remains underexplored, especially with respect to the complex biological mechanisms underlying this association. This study aimed to examine the association between sedentary time and TD in adult males. This cross-sectional study analyzed data from the National Health and Nutrition Examination Survey 2011–2016. A total of 6057 male participants aged 20 years and older were included. Sedentary time was categorized into quartiles, and TD was defined as serum testosterone levels below 300 ng/dL. Logistic regression models were employed to assess the association between sedentary time and TD, adjusting for demographic, lifestyle, and health-related covariates. Restricted cubic spline (RCS) analysis and segmented regression were also conducted to explore potential non-linear relationships and thresholds. Subgroup analyses were performed to examine the consistency of associations across various groups. The analysis revealed a significant positive association between sedentary time and TD. Prolonged sedentary behaviour was consistently associated with higher odds of TD across all models (all p < 0.001). RCS analysis showed a significant non-linear relationship, particularly as sedentary time exceeded 4.5 h per day, with a marked increase in the likelihood of TD (p-non-linear = 0.027). Subgroup analysis indicated that this association was most pronounced in Non-Hispanic Whites, current smokers, and drinkers, and was weaker in individuals with diabetes, where the association lost statistical significance after full adjustment. This study identifies a significant association between prolonged sedentary behaviour and a higher risk of TD, suggesting that sedentary behavior may play a key role in the development of TD, particularly in specific high-risk populations.
Maintaining glucose and lipid homeostasis is crucial for health, with dysregulation leading to metabolic diseases such as type 2 diabetes mellitus (T2DM) and metabolic dysfunction–associated fatty liver disease (MAFLD). This study identifies alkylation repair homolog protein 5 (ALKBH5), an RNA N ⁶ -methyladenosine (m ⁶ A) demethylase, as a major regulator in metabolic disease. ALKBH5 is up-regulated in the liver during obesity and also phosphorylated by protein kinase A, causing its translocation to the cytosol. Hepatocyte-specific deletion of Alkbh5 reduces glucose and lipids by inhibiting the glucagon receptor (GCGR) and mammalian target of rapamycin complex 1 (mTORC1) signaling pathways. Targeted knockdown of hepatic Alkbh5 reverses T2DM and MAFLD in diabetic mice, highlighting its therapeutic potential. This study unveils a regulatory mechanism wherein ALKBH5 orchestrates glucose and lipid homeostasis by integrating the GCGR and mTORC1 pathways, providing insight into the regulation of metabolic diseases.
Background Currently, artificial intelligence (AI) has been widely used for the prediction, diagnosis, evaluation and rehabilitation of stroke. However, the quantitative and qualitative description of this field is still lacking. Objective This study aimed to summarize and elucidate the research status and changes in hotspots on the application of AI in stroke over the past 20 years through bibliometric analysis. Materials and Methods Publications on the application of AI in stroke in the past two decades were retrieved from the Web of Science Core Collection. Microsoft Excel was used to analyze the annual publication volume. The cooperation network map among countries/regions was generated on an online platform (https://bibliometric.com/). CiteSpace was used to visualize the co-occurrence of institutions and analyze the timeline view of references and burst keywords. The network visualization map of keywords co-occurrence was generated by VOSviewer. Results A total of 4437 publications were included. The annual number of published documents shows an upwards trend. The USA published the most documents and has the top 3 most productive institutions. Journal of Neuroengineering and Rehabilitation and Stroke are the journals with the most publications and citations, respectively. The keywords co-occurrence network classified the keywords into four themes, that is "rehabilitation," "machine learning," "recovery" and "upper limb function." The top 3 keywords with the strongest burst strength were "arm," "upper limb" and "therapy." The most recent keywords that burst after 2020 and last until 2023 included "scores," "machine learning," "natural language processing" and "atrial fibrillation." Conclusion The USA shows a leading position in this field. At present and in the next few years, research in this field may focus on the prediction/rapid diagnosis of potential stroke patients by using machine learning, deep learning and natural language processing.
Institution pages aggregate content on ResearchGate related to an institution. The members listed on this page have self-identified as being affiliated with this institution. Publications listed on this page were identified by our algorithms as relating to this institution. This page was not created or approved by the institution. If you represent an institution and have questions about these pages or wish to report inaccurate content, you can contact us here.
73 members
Wang Tianyun
  • genecloning group
Zuobin Zhu
  • Central South University
Yan Xu
  • Lympjoma & Myeloma
Yanru Huang
  • State Key Laboratory of Medical Genetics
Information
Address
Changsha, China