98 results match your criteria: "Research Center of Medical Genetics[Affiliation]"

Jaranol alleviates cognitive impairment in db/db mice through the PI3K/AKT pathway.

Metab Brain Dis

January 2025

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Department of Genetics, Xuzhou Medical University, Xuzhou, 221004, Jiangsu, China.

The widely used Radix Astragali (RA) has significant therapeutic effects on cognitive impairment (CI) caused by type 2 diabetes (T2DM). However, the effective active ingredients and the precise mechanism underly RA alleviation of T2DM-induced CI still require further study. In this study, we aim to elucidate whether and how jaranol, a key effective active ingredient in RA, influences CI in db/db mice.

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Doublecortin regulates the mitochondrial-dependent apoptosis in glioma via Rho-A/Net-1/p38-MAPK signaling.

Mol Med

December 2024

Department of Neurobiology and Anatomy, Key Laboratory of Neurobiology, Xuzhou Medical University, 209, Tongshan Road, Xuzhou, 221004, China.

Doublecortin (DCX) is a microtubule-associated protein known to be a key regulator of neuronal migration and differentiation during brain development. However, the role of DCX, particularly in regulating the survival and growth of glioma cells, remains unclear. In this study, we utilized CRISPR/Cas9 technology to knock down DCX in the human glioma cell line (U251).

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This study aimed to investigate the influence of sperm miRNAs on fertilization rates (FR) in in vitro fertilization (IVF) and to explore potential regulatory mechanisms in sperm-mediated fertilization and embryo development. Through high-throughput sequencing, we identified differentially expressed miRNAs in sperm, with miR-133a-3p significantly upregulated in samples associated with low FR and available embryo rate (AER). Key regulatory circRNAs and mRNAs were further identified via the Starbase database, intersected with differentially expressed RNA, and analyzed through GO, KEGG, and PPI analyses.

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MSR1 in lung squamous cell carcinoma: Prognostic and immunological values in pan-cancer and single-cell analyses and a cohort study.

Int Immunopharmacol

January 2025

Department of Pathogen Biology, Key Laboratory for Pathogen Infection and Control of Jiangsu Province, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic address:

Objective: Lung squamous cell carcinoma (LUSC) constitutes approximately 40% of lung cancer cases and lacks effective treatments, needing new diagnostic and prognostic tools. Macrophage scavenger receptor 1 (MSR1), as a key receptor in macrophages, is essential in tumor immunity. However, its mechanisms in regulating tumor progression and immunity and its prognostic value in LUSC remain unclear.

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Isoprenaline Inhibits Histone Demethylase LSD1 to Induce Cardiac Hypertrophy.

Cardiovasc Toxicol

November 2024

College of Basic Medical Sciences, Tianjin Medical University, 22# Qixiangtai Road, Heping District, Tianjin, 300070, People's Republic of China.

Histone demethylation in cardiac hypertrophy is poorly understood. This study aims to determine the role of the histone demethylase LSD1 in pathological cardiac hypertrophy. Both isoprenaline (ISO)-treated and transverse aortic constriction (TAC)-treated rats developed hypertrophic hearts.

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Background: Colorectal cancer (CRC) remains a major burden worldwide, ranking third and second in incidence and mortality respectively. Detection of biomarkers including KRAS mutations can help predict prognosis and response to therapy in CRC, thus this study evaluated the frequency of KRAS mutations among Indonesian patients and their associations with clinicopathologic characteristics.

Methods: Fifty-three CRC samples were collected from January to September 2022 in the Department of Surgery, Dr.

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Maternal NO exposure and fetal growth restriction: Hypoxia transmission and lncRNAs-proinflammation-mediated abnormal hematopoiesis.

Proc Natl Acad Sci U S A

October 2024

Department of Environment Science, College of Environment and Resource, Research Center of Environment and Health, Shanxi Key Laboratory of Coal-based Emerging Pollutant Identification and Risk Control, Shanxi University, Taiyuan, Shanxi 030006, People's Republic of China.

Article Synopsis
  • Epidemiological studies indicate that air pollution, specifically nitrogen dioxide (NO), is linked to fetal growth restriction (FGR), particularly when exposure occurs during the second trimester.
  • A retrospective analysis of nearly 29,000 newborns showed a positive correlation between maternal NO exposure and the risk of having small-for-gestational-age babies, with a specific odds ratio calculated.
  • Animal studies further confirmed that maternal NO inhalation affects embryonic development and the hematopoietic system, with findings suggesting that this exposure leads to placental hypoxia, thereby activating certain biological pathways that contribute to FGR.
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Objective: This study investigates the thromboelastography (TEG) changes in patients with unexplained recurrent spontaneous abortion (URSA) to identify effective diagnostic markers for URSA.

Methods: We retrospectively analyzed 160 URSA patients from the Gynecology Department of the First People's Hospital of Lianyungang (June 2017 - June 2020) and compared them with 190 healthy, fertile women without adverse pregnancy histories (control group). TEG parameters were assessed using logistic regression, applying stepwise selection for model optimization.

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Unlabelled: To date, it has been established that the patient's genotype plays a significant role in the formation of trehalase enzymopathy: the level of enzyme activity decreases when the G→A allele replacement occurs in the rs2276064 locus of the TREH gene. To assess the prevalence of trehalase deficiency, extensive population-based studies are needed. Clinical observations show that the reduced activity of bowel trehalase is more common in the Arctic than in European populations.

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Profiling of circulating extracellular vesicle microRNAs reveals diagnostic potential and pathways in non-obstructive and obstructive azoospermia†.

Biol Reprod

December 2024

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Key Laboratory of Genetic Foundation and Clinical Application, Department of Genetics, Xuzhou Medical University, Xuzhou, China.

The accurate diagnosis of non-obstructive azoospermia and obstructive azoospermia is crucial for selecting appropriate clinical treatments. This study aimed to investigate the pivotal role of microRNAs in circulating plasma extracellular vesicles in distinguishing between non-obstructive azoospermia and obstructive azoospermia, as well as uncovering the signaling pathways involved in azoospermia pathogenesis. In this study, differential expression of extracellular vesicle miR-513c-5p and miR-202-5p was observed between non-obstructive azoospermia and obstructive azoospermia patients, while the selenocompound metabolism pathway could be affected in azoospermia through Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analysis.

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New insights shed light on the enigma of genetic diversity and species complexity.

Sci China Life Sci

December 2024

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Key Laboratory of Genetic Foundation and Clinical Application, Xuzhou Medical University, Xuzhou, 221004, China.

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Background: To investigate whether the novel mutation of could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.

Methods: A nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged echogenic polycystic kidney and oligoamnios were recruited. Pedigree WES, minigene splicing assay experiment and following bioinformatics analysis were performed to verify the effects, and inheritance pattern of diseasing-causing mutations.

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Screening Organic Components and Toxicogenic Structures from Regional Fine Particulate Matters Responsible for Myocardial Fibrosis in Male Mice.

Environ Sci Technol

July 2024

College of Environment and Resource, Research Center of Environment and Health, Shanxi University, Taiyuan, Shanxi 030006, PR China.

Numerous studies indicate that fine particulate matters (PM) and its organic components are urgent risk factors for cardiovascular diseases (CVDs). Combining toxicological experiments, effect-directed analyses, and nontarget identification, this study aims to explore whether PM exposure in coal-combustion areas induces myocardial fibrosis and how to identify the effective organic components and their toxic structures to support regional risk control. First, we constructed an animal model of real-world PM exposure during the heating season and found that the exposure impaired cardiac systolic function and caused myocardial fibrosis, with chemokine Ccl2-mediated inflammatory response being the key cause of collagen deposition.

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Diabetic encephalopathy (DE) is a severe complication of the central nervous system associated with diabetes. In this study, we investigated the regulatory role of mammalian target of rapamycin (mTOR) on nuclear factor κB (NF-κB) in mice with DE, and the neuroprotective effect and therapeutic mechanisms of luteolin, a natural flavonoid compound with anti-inflammatory, antioxidant, and neuroprotective properties. The results indicated that treatment with luteolin improved the degree of cognitive impairment in mice with DE.

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PRDX1 Interfering Peptide Disrupts Amino Acids 70-90 of PRDX1 to Inhibit the TLR4/NF-κB Signaling Pathway and Attenuate Neuroinflammation and Ischemic Brain Injury.

Mol Neurobiol

December 2024

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Key Laboratory of Genetic Foundation and Clinical Application, Department of Genetics, Xuzhou Medical University, Xuzhou, 221004, China.

Ischemic stroke ranks among the leading causes of death and disability in humans and is accompanied by motor and cognitive impairment. However, the precise mechanisms underlying injury after stroke and effective treatment strategies require further investigation. Peroxiredoxin-1 (PRDX1) triggers an extensive inflammatory cascade that plays a pivotal role in the pathology of ischemic stroke, resulting in severe brain damage from activated microglia.

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PM exposure contributes to anxiety and depression-like behaviors via phenyl-containing compounds interfering with dopamine receptor.

Proc Natl Acad Sci U S A

May 2024

Department of Environment Science, College of Environment and Resource, Research Center of Environment and Health, Shanxi University, Taiyuan, Shanxi 030006, People's Republic of China.

As a global problem, fine particulate matter (PM) really needs local fixes. Considering the increasing epidemiological relevance to anxiety and depression but inconsistent toxicological results, the most important question is to clarify whether and how PM causally contributes to these mental disorders and which components are the most dangerous for crucial mitigation in a particular place. In the present study, we chronically subjected male mice to a real-world PM exposure system throughout the winter heating period in a coal combustion area and revealed that PM caused anxiety and depression-like behaviors in adults such as restricted activity, diminished exploratory interest, enhanced repetitive stereotypy, and elevated acquired immobility, through behavioral tests including open field, elevated plus maze, marble-burying, and forced swimming tests.

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Effects and mechanisms of endocrine disruptor bisphenol AF on male reproductive health: A mini review.

Ecotoxicol Environ Saf

May 2024

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Key Laboratory of Genetic Foundation and Clinical Application, Department of Genetics, School of life science, Xuzhou Medical University, Xuzhou, Jiangsu 221004, PR China. Electronic address:

Bisphenol AF (BPAF), an analogue of bisphenol A (BPA), is commonly found in manufacturing industries and known for its endocrine-disrupting properties. Despite potential similarities in adverse effects with BPA, limited toxicological data exist specifically for BPAF and its impact on male reproductive physiology. This mini-review aims to elucidate the influence of BPAF on the male reproductive system, focusing on estrogenic effects, effects on the hypothalamus-pituitary-gonad (HPG) axis, steroidogenesis, spermatogenesis, and transgenerational reproductive toxicity.

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Erectile dysfunction (ED) is a common clinical condition that mainly affects men aged over 40 years. Various causes contribute to the progression of ED, including pelvic nerve injury, diabetes, metabolic syndrome, age, Peyronie's disease, smoking, and psychological disorders. Current treatments for ED are limited to symptom relief and do not address the root cause.

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MKK3 K329 Mutation Attenuates Diabetes-Associated Cognitive Dysfunction by Blocking the MKK3-RAGE Interaction and Inhibiting Neuroinflammation.

Aging Dis

February 2024

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Department of Genetics, Xuzhou Medical University, Xuzhou, Jiangsu, China.

The receptor for advanced glycation end products (RAGE) contributes to diabetes-associated cognitive dysfunction (DACD) through the interaction of its C-terminal AAs 2-5 with mitogen-activated protein kinase kinase 3 (MKK3). However, the associated MKK3 binding site is unknown. Here, db/db mice were used as a model for type 2 diabetes.

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Investigating the causal impact of polycystic ovary syndrome on gestational diabetes mellitus: a two-sample Mendelian randomization study.

Front Endocrinol (Lausanne)

February 2024

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Key Laboratory of Genetic Foundation and Clinical Application, Department of Genetics, Xuzhou Medical University, Xuzhou, Jiangsu, China.

Introduction: Determining the causal relationship between polycystic ovary syndrome (PCOS) and gestational diabetes mellitus (GDM) holds significant implications for GDM prevention and treatment. Despite numerous observational studies suggesting an association between PCOS and GDM, it remains unclear whether a definitive causal relationship exists between these two conditions and which specific features of PCOS contribute to increased incidence of GDM.

Methods: The causal relationship between polycystic ovary syndrome (PCOS), its characteristic indices, and gestational diabetes mellitus (GDM) was investigated using a two-sample Mendelian randomization study based on publicly available statistics from genome-wide association studies (GWAS).

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TAT-W61 peptide attenuates neuronal injury through blocking the binding of S100b to the V-domain of Rage during ischemic stroke.

J Mol Med (Berl)

February 2024

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Key Laboratory of Genetic Foundation and Clinical Application, Department of Genetics, Xuzhou Medical University, Xuzhou, 221004, China.

Ischemic stroke is a devastative nervous system disease associated with high mortality and morbidity rates. Unfortunately, no clinically effective neuroprotective drugs are available now. In ischemic stroke, S100 calcium-binding protein b (S100b) binds to receptor for advanced glycation end products (Rage), leading to the neurological injury.

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NMDAR antagonists suppress tumor progression by regulating tumor-associated macrophages.

Proc Natl Acad Sci U S A

November 2023

Department of Pathogen Biology and Immunology, Jiangsu Key Laboratory of Immunity and Metabolism, Jiangsu International Laboratory of Immunity and Metabolism, Xuzhou Medical University, Xuzhou, Jiangsu 221004, China.

Neurotransmitter receptors are increasingly recognized to play important roles in anti-tumor immunity. The expression of the ion channel N-methyl-D-aspartate receptor (NMDAR) on macrophages was reported, but the role of NMDAR on macrophages in the tumor microenvironment (TME) remains unknown. Here, we show that the activation of NMDAR triggered calcium influx and reactive oxygen species production, which fueled immunosuppressive activities in tumor-associated macrophages (TAMs) in the hepatocellular sarcoma and fibrosarcoma tumor settings.

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Binding of RAGE and RIPK1 induces cognitive deficits in chronic hyperglycemia-derived neuroinflammation.

CNS Neurosci Ther

March 2024

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Department of Genetics, Xuzhou Medical University, Xuzhou, Jiangsu, China.

Aims: Chronic hyperglycemia-induced inflammation of the hippocampus is an important cause of cognitive deficits in diabetic patients. The receptor for advanced glycation end products (RAGE), which is widely expressed in the hippocampus, is a crucial factor in this inflammation and the associated cognitive deficits. We aimed to reveal the underlying mechanism by which RAGE regulates neuroinflammation in the pathogenesis of diabetes-induced cognitive impairment.

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Insights into the genetic influences of the microbiota on the life span of a host.

Front Microbiol

August 2023

Xuzhou Engineering Research Center of Medical Genetics and Transformation, Key Laboratory of Genetic Foundation and Clinical Application, Department of Genetics, Xuzhou Medical University, Xuzhou, China.

() mutant strains have been reported to extend the life span of (). However, the specific mechanisms through which the genes and pathways affect aging are not yet clear. In this study, we fed (fruit fly) various single-gene knockout strains to screen mutant strains with an extended lifespan.

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