Transthyretin Tetramer as a Prognostic Biomarker in Heart Failure.
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biomarker↗
Biomedical subjects
Rui Gao
Publications and source records attributed to Rui Gao.
soFusion: facilitating tissue structure identification via spatial multi-omics data fusion.
The rapid advancement of spatial multi-omics technologies has opened new avenues for dissecting tissue architecture with unprecedented resolution. However, inherent disparities across omics modalities, such as differences in biological hierarchy and resolution, pose significant challenges for integrative analysis. To address this, we present soFusion, a method for representation learning on spatial multi-omics data that enables automated identification of tissue compartmentalization. soFusion employs a graph convolutional network (GCN) to extract latent embeddings from spatial omics profiles. To simultaneously capture both cross-modality relationships and modality-specific features, we introduce a novel strategy for intra- and inter-omics feature learning. Moreover, modality-specific decoders are designed to preserve the unique information embedded in each omics type. We evaluated soFusion on multiple datasets including gene expression, protein expression, and epigenetic features. Across all benchmarks, soFusion consistently outperformed existing methods in delineating anatomical structures and identifying spatial domains with improved continuity and reduced noise. Collectively, soFusion offers an effective solution for spatial multi-omics integration, substantially enhancing the robustness of spatial domain identification.
Humans↗
Whole transcriptome sequencing analyses of islets reveal ncRNA regulatory networks underlying impaired insulin secretion and increased β-cell mass in high fat diet-induced diabetes mellitus.
AIM: Our study aims to identify novel non-coding RNA-mRNA regulatory networks associated with β-cell dysfunction and compensatory responses in obesity-related diabetes. METHODS: Glucose metabolism, islet architecture and secretion, and insulin sensitivity were characterized in C57BL/6J mice fed on a 60% high-fat diet (HFD) or control for 24 weeks. Islets were isolated for whole transcriptome sequencing to identify differentially expressed (DE) mRNAs, miRNAs, IncRNAs, and circRNAs. Regulatory networks involving miRNA-mRNA, lncRNA-mRNA, and lncRNA-miRNA-mRNA were constructed and functions were assessed through Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. RESULTS: Despite compensatory hyperinsulinemia and a significant increase in β-cell mass with a slow rate of proliferation, HFD mice exhibited impaired glucose tolerance. In isolated islets, insulin secretion in response to glucose and palmitic acid deteriorated after 24 weeks of HFD. Whole transcriptomic sequencing identified a total of 1324 DE mRNAs, 14 DE miRNAs, 179 DE lncRNAs, and 680 DE circRNAs. Our transcriptomic dataset unveiled several core regulatory axes involved in the impaired insulin secretion in HFD mice, such as miR-6948-5p/Cacna1c, miR-6964-3p/Cacna1b, miR-3572-5p/Hk2, miR-3572-5p/Cckar and miR-677-5p/Camk2d. Additionally, proliferative and apoptotic targets, including miR-216a-3p/FKBP5, miR-670-3p/Foxo3, miR-677-5p/RIPK1, miR-802-3p/Smad2 and ENSMUST00000176781/Caspase9 possibly contribute to the increased β-cell mass in HFD islets. Furthermore, competing endogenous RNAs (ceRNA) regulatory network involving 7 DE miRNAs, 15 DE lncRNAs and 38 DE mRNAs might also participate in the development of HFD-induced diabetes. CONCLUSIONS: The comprehensive whole transcriptomic sequencing revealed novel non-coding RNA-mRNA regulatory networks associated with impaired insulin secretion and increased β-cell mass in obesity-related diabetes.
Mice↗
The relationship between the therapeutic response to risperidone and the dopamine D2 receptor polymorphism in Chinese schizophrenia patients.
Antipsychotic drugs exert both therapeutic and adverse effects through dopamine D2 receptor (DRD2) antagonism. Genetic variants of this receptor may be responsible for individual variations in neuroleptic response and may therefore be useful in predicting response. In this study we evaluated the role of six polymorphisms of the DRD2 gene in 125 risperidone-treated Chinese schizophrenia patients following the hypothesis that variation in the DRD2 gene could affect drug response. Response was categorized as a change of >40% on the Brief Psychiatric Rating Scale (BPRS). Our results show that genotyping A-241G may help to predict the efficacy of risperidone treatment on the basis that patients with the A allele showed greater improvement than those with the G allele on the overall BPRS (chi2=7.19, p=0.007, p=0.031 after correction by the program SNPSpD), while other polymorphisms, including -141C Ins/Del, TaqIB, rs1076562, T939C and TaqIA, did not show any association with the response to risperidone. These data suggest that the DRD2 A-241G polymorphism or, alternatively, another genetic variation that is in linkage disequilibrium, may influence response to risperidone in schizophrenia patients.
Adult↗
Association of DRD2 polymorphisms and chlorpromazine-induced extrapyramidal syndrome in Chinese schizophrenic patients.
AIM: Extrapyramidal syndrome (EPS) is most commonly affected by typical antipsychotic drugs that have a high affinity with the D2 receptor. Recently, many research groups have reported on the positive relationship between the genetic variations in the DRD2 gene and the therapeutic response in schizophrenia patients as a result of the role of variations in the receptor in modulating receptor expression. In this study, we evaluate the role DRD2 plays in chlorpromazine-induced EPS in schizophrenic patients. METHODS: We identified seven SNP(single nucleotide polymorphism) (-141Cins>del, TaqIB, TaqID, Ser311Cys, rs6275, rs6277 and TaqIA) in the DRD2 gene in 146 schizophrenic inpatients (59 with EPS and 87 without EPS according to the Simpson-Angus Scale) treated with chlorpromazine after 8 weeks. The alleles of all loci were determined by PCR (polymerase chain reaction). RESULTS: Polymorphisms TaqID, Ser311Cys and rs6277 were not polymorphic in the population recruited in the present study. No statistical significance was found in the allele distribution of -141Cins>del, TaqIB, rs6275 and TaqIA or in the estimated haplotypes (constituted by TaqIB, rs6275 and TaqIA) in linkage disequilibrium between the two groups. CONCLUSION: Our results did not lend strong support to the view that the genetic variation of the DRD2 gene plays a major role in the individually variable adverse effect induced by chlorpromazine, at least in Chinese patients with schizophrenia. Our results confirmed a previous study on the relationship between DRD2 and EPS in Caucasians.
Adult↗
Polymorphisms of the ABCB1 gene are associated with the therapeutic response to risperidone in Chinese schizophrenia patients.
P-glycoprotein, a product of the ATP-binding cassette B1 (ABCB1) gene, plays an important role in absorption and distribution of drugs. The brain entry of risperidone and 9-OH-risperidone is greatly limited by P-glycoprotein, which implies that the functional polymorphisms of ABCB1 in humans may be a factor contributing to the variability in response to risperidone. The present study was therefore designed to examine whether polymorphisms of the ABCB1 gene are related to therapeutic response. For this purpose, 130 Chinese schizophrenia patients undergoing risperidone treatment were recruited. Plasma drug concentrations were monitored and clinical symptoms were evaluated using the Brief Psychiatric Rating Scale (BPRS) before and 8 weeks after the treatment. Association tests between genotypes and percentage improvement in total BPRS scores were performed using analyses of variance. Our results show that genotyping C1236T may help to predict the efficacy of risperidone treatment on the basis that patients with the TT genotype showed greater improvement than those with other genotypes on the overall BPRS (F = 3.967, p = 0.021), while other polymorphisms, including rs13233308, G2677T/A and C3435T polymorphism, did not show any association with the response to risperidone. These results showed suggestive evidence that genetic variation in the ABCB1 gene may influence the individual response to risperidone.
ATP Binding Cassette Transporter, Subfamily B↗
Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH).
Dyschromatosis symmetrica hereditaria (DSH [MIM 127400]) is characterized by the presence of hyperpigmented and hypopigmented macules mostly on the dorsal aspects of the extremities. Genetic studies have identified mutations in the ADAR gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we found a novel deletion mutation in the ADAR gene, 2929delA, in a Chinese family with DSH. This mutation is located in codon 977 (AGC-->GC), and leads to a frameshift and truncated protein of 250 amino acids with 76 novel amino acids prior to a premature stop codon. The truncated ADAR is predicted to lack the ADEAMc (tRNA-specific and double-stranded RNA adenosine deaminase) domain. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on ADAR gene mutations in DSH.
Adenosine Deaminase↗
Molecular cloning and characterization of three novel lysozyme-like genes, predominantly expressed in the male reproductive system of humans, belonging to the c-type lysozyme/alpha-lactalbumin family.
Lysozymes, especially c-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. The relatives of c-type lysozymes, alpha-lactalbumins, however, are only found in mammalian milk and possess a distinct biological function. These two proteins, having similar amino acid sequences, gene structure, and dimensional conformation, belong to the c-type lysozyme/alpha-lactalbumin family. Using human lysozyme as an information probe, we cloned four human cDNAs encoding homologues of human lysozyme; these were named LYZL2, LYZL4, LYZL6, and SPACA3 by the HUGO Gene Nomenclature Committee. Of these four, SPACA3 has been reported to code an intra-acrosomal sperm protein SLLP1. To our knowledge, the other three are reported here for the first time. Using Northern blot hybridization, including 16 different human tissues, we found that these four lysozyme-like genes were all highly expressed in the testis/epididymis. Further analysis of one, LYZL4, by in situ hybridization revealed that its mRNA was only detected in the epithelium of human epididymis, most abundantly in the caput, suggesting that LYZL4 plays a physiological role in male reproduction. By sequence analysis, we found that two essential catalytic residues of the human lysozyme were conserved in LYZL2 and LYZL6, whereas one site in LYZL4 and two sites in SPACA3 were replaced. The LYZL2, LYZL4, LYZL6, and SPACA3 genes were mapped to human chromosome 10p11.23, 3p21.33, 17q11.2, and 17q12, respectively, and displayed a similar genomic structure. Our data suggest that these four lysozyme-like genes, which have arisen from a common progenitor gene, play a major role in human reproduction.
Amino Acid Sequence↗
A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3.
Generalized lentiginosis (GL) is characterized by widespread lentigines without associated noncutaneous abnormalities. In this study we performed a genome-wide linkage search in a Chinese family with GL and localized the familial GL locus to chromosome 4q21.1-q22.3, with a maximum two-point LOD score of 3.01 for D4S395 and D4S423 at a recombination fraction of 0. Multipoint analysis (maximum LOD score of 5.08 between markers D4S395 and D4S1563) and haplotype construction showed strong evidence of linkage in a region of 20 Mb flanked by markers D4S2915 and D4S1560 on chromosome 4q21.1-q22.3. This is the first report of linkage for GL, and it will provide further insight into the controversy of whether GL is an entity distinct from LEOPARD syndrome.
China↗
A family-based association study of schizophrenia with polymorphisms at three candidate genes.
Clinical researches have shown that there is a genetic contribution to the pathogenesis of schizophrenia. Recent studies have suggested that three genes neuropeptide Y (NPY), phosphoinositide-3-kinase class 3 (PIK3C3) and 14-3-3 eta chain gene (YWHAH) are probably associated with schizophrenia. To replicate these findings, we carried out a family-based study on a sample of 235 trios. Our results suggest that the polymorphisms at the NPY and YWHAH genes are unlikely to be linked with genetic susceptibility to schizophrenia. However, we found significant evidence of preferential transmission of the -432C allele of the PIK3C3 gene in the entire trios (Z=2.91, d.f.=1, P=0.0036) and the male probands trios (Z=2.66, d.f.=1, P=0.0079).
14-3-3 Proteins↗
No association between the serotonin 1B receptor gene and schizophrenia in a case-control and family-based association study.
Previous studies have demonstrated that polymorphisms in the putative promoter region of the human serotonin receptor 1B (HTR1B) gene affect gene expression [H.F. Sun, Y.T. Chang, C.S. Fann, C.J. Chang, Y.H. Chen, Y.P. Hsu, W.Y. Yu, A.T. Cheng, Association study of novel human serotonin 5-HT(1B) polymorphisms with alcohol dependence in Taiwanese Han, Biol. Psychiatry 51 (2002) 896-901; J. Duan, A.R. Sanders, J.E. Molen, L. Martinolich, B.J. Mowry, D.F. Levinson, R.R. Crowe, J.M. Silverman, P.V. Gejman, Polymorphisms in the 5'-untranslated region of the human serotonin receptor 1B (HTR1B) gene affect gene expression, Mol. Psychiatry 8 (2003) 901-910]. And the silent mutation G861C allele has been reported to be associated with several psychiatric disorders. Thus, we performed a case-control association study (456 cases and 557 controls) of the five variants in HTR1B gene (T-261G, -182INS/DEL-181, A-161T, C129T and G861C) with schizophrenia. The results showed that neither the allelic distribution nor the major haplotype distribution (except for a rare haplotype) of five SNPs in patients was significantly different from that in controls. A further family-based association study (229 family trios) of G861C allele suggested that HTR1B was not a susceptible gene with schizophrenia in our sample. In conclusion, these data do not support the idea that HTR1B gene plays a major role in the etiopathogenesis of schizophrenia in Chinese Han population.
Adult↗
Response to chlorpromazine treatment may be associated with polymorphisms of the DRD2 gene in Chinese schizophrenic patients.
Previous studies have demonstrated that the -141C Ins/Del and TaqI A polymorphisms in the DRD2 gene affect the density of the dopamine D2 receptor. The present study examines the correlation between these two polymorphisms and the therapeutic response to chlorpromazine, a typical antipsychotic drug, in 135 inpatients with schizophrenia. Clinical symptoms were evaluated using the Brief Psychiatry Rating Scale (BPRS) before and after 8 weeks of treatment with 300-600 mg/day of chlorpromazine. Our results show that genotyping -141C Ins/Del may help to predict the efficacy of chlorpromazine treatment (P=0.01) due to the fact that patients with no Del allele showed greater improvement than those with Del allele on the overall BPRS (P=0.03), and that, therefore, the potential for therapy in patients with schizophrenia is related to the -141C Ins/Del polymorphism in the DRD2 gene. However, no such relationship was found for the TaqI A polymorphism.
Adult↗
Intravitreal triamcinolone does not alter basal vascular endothelial growth factor mRNA expression in rat retina.
Intravitreal triamcinolone inhibits choroidal neovascularization. To investigate if vascular endothelial growth factor (VEGF) is affected, we examined VEGF expression after intravitreal triamcinolone administration in rat retina. Using in situ hybridization, we have found dense clustered VEGF mRNA signals in the retinal pigment epithelium, moderate patchy signals in the inner nuclear layer, and positive labeling in a sub-population of ganglion cells. Densitometry and northern blot analysis revealed no significant alteration of VEGF mRNA expression pattern and level 3-21 days after triamcinolone injection. Our data indicate that intravitreal triamcinolone does not affect basal VEGF mRNA expression in normal adult rat retina.
Angiogenesis Inhibitors↗
[A new rat model of transplant kidney-sclerosis accelerated by prolonged cold ischemia time].
OBJECTIVE: To establish an accelerated animal model of the chronic renal allograft dysfunction in rat. METHODS: Kidney transplantation was performed from SD to Wistar strain (allogeneic) according to the procedure of Kamada with some modification. Before the transplantation, the kidney was preserved in 0-4 degrees C heparin sodium chloride solution for prolonging the one hour. The serum creatinine level and pathological change of transplant kidney were observed in the 2nd, 4th, 6th, 8th and 12th weeks post-transplantation. RESULTS: After transplantation, the serum creatinine level of recipient rats obviously increased in the 6th week and the pathologic changes of chronic nephropathy evidently appeared in the 8th week when compared to those of the control group with non-reinforcement I/R injury; a statistically significant difference was noted. CONCLUSION: It is simple and feasible to establish a rat model of (SD-->Wistar) transplant kidney-sclerosis accelerated by prolonging I/R injury.
Animals↗
[Clinical study on application of bailing capsule after renal transplantation].
OBJECTIVE: To observe and assess the immunosuppressive effect of applying bailing capsule (BLC, a dry powder preparation of Cordyceps sinensis mycelia), after renal transplantation, its influence on other systems of organism, and to explore the possible therapeutic mechanism. METHODS: One hundred and twenty-one recipients of renal homo-allograft were randomly divided into two groups. The 64 cases in Group A was treated with cyclosporin A (Cs A) + prednisone (pred) + azathioprine (Aza), the 57 in Group B treated with Cs A + pred + BLC. They were followed-up for 1-2 year by checking up blood routine, urine routine, liver and renal function, blood electrolytes, glucose and lipids, and uric acid for 2 times every week in the first month after transplantation, followed by proper re-examination of these items according to various condition. RESULTS: There was no significant difference between the two groups in aspects of graft survival rate, occurrence of reject reaction, renal function recovery, blood electrolytes and blood glucose levels. However, as compared with Group A, in Group B, levels of urinary erythrocytes and leucocytes, blood alanine transaminase (ALT), aspartate aminotransferase (AST), total cholesterol, uric acid as well as the incidence of infection were significantly lower, and blood high density lipoprotein, serum total protein, albumin, RBC and WBC count were significantly higher. CONCLUSION: BLC could effectively prevent the reject response after renal transplantation, protect renal and liver function, stimulate hemopoietic function, improve hypoproteinemia and hyperlipidemia, reduce the infection, etc., therefore, it is an ideal immunosuppressor after organ transplantation.
Adult↗
Using participatory action research to provide health promotion for disadvantaged elders in Shaanxi province, China.
OBJECTIVES: The objectives of the study were to (a) determine health promotion issues concerning disadvantaged elders, (b) identify social, economic, environmental, and personal factors that adversely influence disadvantaged elders' health, and (c) enable various stakeholders working within a coordinated framework to promote health among elders. DESIGN: A participatory action research (PAR) model was used over a 2-year period in a remote disadvantaged rural village in Shaanxi province, China. SAMPLE: Participants were 20 elders and 5 local administrators including government officers and village leaders. RESULTS: Three themes were identified, including (a) health is the absence of illness and the ability to sustain self-sufficiency; (b) diseases are inevitable among elders; and (c) cost is the key barrier to accessing health services. Action plans were developed and plans were implemented by the participants and project team. CONCLUSIONS: The project demonstrated that PAR is an optimum research method, which allows researchers to facilitate collaboration with all participants through research and supports democratic dialogue and deliberation through the participation process. Interpersonal relationship skills of researchers are crucially important in building cooperation among all stakeholders. Local government mobilization is essential for successful implementation and sustainability of the project.
Aged↗