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Fibromodulin promotes PDAC progression through multifaceted regulation of tumor growth pathways: Implications for therapeutic targeting.

BACKGROUND: Therapeutic progress in pancreatic ductal adenocarcinoma (PDAC) has been slow. A key factor contributing to this lethal disease's progression is excessive extracellular matrix (ECM) deposition, as highlighted in numerous studies. Fibromodulin (FMOD), a significant ECM component, is speculated to play a crucial role in PDAC, however detailed studies on this are lacking. As such, our study evaluated the functional importance of FMOD in the context of PDAC to understand its mechanistic role. METHODS: Through systematic bioinformatics analysis and tissue microarray analysis, the expre…

Prenatal diagnosis and genetic counselling of a rare de-novo 12p13.33p13.32 deletion and 15q26.2q26.3 duplication in a Chinese family.

BACKGROUND: Copy number variants are an important source of normal and pathogenic genome variations. Constitutional deletions involving the … of the fetus on prenatal ultrasound. In this research, GTG-banding karyotype analysis, chromosomal microarray analysis (CMA), whole-exome sequencing (WES), and fluorescence in-situ hybridization (FISH) were performed. RESULTS: CMA detected a 4.36 Mb deletion on chromosome 12p13.33p13.32 and a 7.59 Mb duplication on chromosome 15q26.2q26.3 of the fetus. No abnormali …

Identification of lymphangiogenesis-related diagnostic model for predicting abdominal aortic aneurysm onset and progression and validation of lymphopoiesis in abdominal aortic aneurysm.

This study aims to explore the lymphangiogenesis (LG)-related diagnostic markers of abdominal aortic aneurysm (AAA) through bioinformatics, as well as the alteration of the regional lymphatic system during the progression of AAA and the influence of lymphatic drainage obstruction on AAA progression. 2957 differentially expressed genes (DEGs) were identified between the AAA patient group and the healthy donor group in Gene Expression Omnibus microarray datasets. Subsequently, the DEGs and the LG gene were intersected, and 93 genes were obtained. Weighted gene co-expression network analysis (WGC

Paired copy number variation analysis in siblings discordant for familial Parkinson's disease.

ObjectivesNumerous studies on the genetic pathogenesis of familial Parkinson's Disease (PD) have explained the etiology of only a limited percentage of cases. In this study, we aimed to identify copy number variations (CNVs) in patients with familial PD compared to their healthy siblings.MethodsGenomic microarray analysis was performed using the CytoScan HD array platform, and paired copy number variation analysis was performed using Partek Genomics Suite.ResultsA total of 211 CNVs were detected in patients (genomic markers per CNV >10, markers per base pair >0.0005). Genes localized in CNV re…

Detection of Novel hub-methylated differentially expressed genes in pregnant women with gestational diabetes mellitus via WGCNA of epigenome-wide and transcriptome-wide profiling.

OBJECTIVES: Gestational diabetes mellitus (GDM) is a prevalent metabolic disorder that adversely affects pregnant women and their growing fetuses. Evidence suggests that genetic and epigenetic modifications, such as DNA methylation, may contribute to the disease phenotype. This study aimed to identify GDM-related hub-methylated genes involved in GDM pathogenesis. METHODS: RNA-seq transcriptomic-wide data (GSE203346) and microarray epigenomic-wide data (GSE106099) were obtained from the Gene Expression Omnibus. Weighted Gene Co-expression Network Analysis (WGCNA) and differential gene expressi

Sex-specific differences in glucose metabolism and pancreatic function in streptozotocin-induced diabetic mice: The protective role of estrogen.

Sex differences significantly influence the pathophysiology of diabetes mellitus, with estrogen playing a protective role in glucose metabol … re analyzed via histology and immunofluorescence, while hepatic gene expression was evaluated using microarray analysis. Male and ovariectomized female mice showed significantly higher FBG and HbA1c levels and impaired glucose tolerance compared to female mice, indicating estrogen's protective role in glucose regulation. Histological analysis revealed severe pancreat …

Insights into the pathophysiology and response of persistent spinal pain syndrome type 2 to spinal cord stimulation: a human genome-wide association study.

BACKGROUND: Spinal cord stimulation (SCS) provides pain relief for some patients with persistent spinal pain syndrome type 2 (PSPS 2), but the precise mechanisms of action and prognostic factors for a favorable pain response remain obscure. This in vivo human genome-wide association study provides some pathophysiological clues. METHODS: We performed a high-density oligonucleotide microarray analysis of serum obtained from both PSPS 2 cases and pain-free controls who had undergone lower back spinal surgery at the study site. Using multivariate discriminant analysis, we tried to identify differ…

Identification of potential biomarkers for 2022 Mpox virus infection: a transcriptomic network analysis and machine learning approach.

Monkeypox virus (MPXV), a zoonotic pathogen, re-emerged in 2022 with the Clade IIb variant, raising global health concerns due to its unprecedented spread in non-endemic regions. Recent studies have shown that Clade IIb (2022 MPXV) is marked by unique genomic mutations and epidemiological behaviors, suggesting variations in host-virus interactions. This study aimed to identify the differentially expressed genes (DEGs) induced by the 2022 MPXV infection through comprehensive bioinformatics analyses of microarray and RNA-Seq datasets from post-infected cell types with different MPXV clades. Subs

Integrated transcriptomics of multiple sclerosis peripheral blood mononuclear cells explored potential biomarkers for the disease.

BACKGROUND: Despite their importance, blood RNAs have not been comprehensively studied as potential diagnostic markers for multiple sclerosis (MS). Herein, by the integration of GSE21942 and GSE203241 microarray profiles of peripheral blood mononuclear cells, this study explored potential biomarkers for the disease. METHODS: After identification of differentially expressed genes (DEGs), functional enrichment analyses were performed, and PPI and miRNA-mRNA regulatory networks were constructed. After implementing weighted gene co-expression network analysis (WGCNA) and discovering MS-specific m

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… Herein, an integrated microarray analysis of peripheral blood mononuclear cells was conducted to identify potential biomarkers for the disease. …

Fibroblast Growth Factor 23 is a Potential Prognostic Biomarker in Uterine Sarcoma.

BACKGROUND: Uterine sarcoma (US) is a highly malignant cancer with poor prognosis and high mortality in women. In this study, we evaluated the expression of human fibroblast growth factor 23 (FGF23) in different US subtypes and the relationship between survival and clinicopathological characteristics. METHODS: We conducted a comparative analysis of FGF23 gene expression in different pathological types of US. Utilizing a cohort from The Cancer Genome Atlas of 57 patients, a 50-patient microarray dataset (GSE119043) from the Gene Expression Omnibus and a Suining cohort of 44 patients, we analyz

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.

BACKGROUND: Limited research has been conducted regarding the elucidation of genotype-phenotype correlations within the 20q13.33 region. The genotype-phenotype association of 20q13.33 microdeletion remains inadequately understood. In the present study, two novel cases of 20q13.33 microdeletion were introduced, with the objective of enhancing understanding of the genotype-phenotype relationship. METHODS: Two unrelated patients with various abnormal clinical phenotypes from Fujian province Southeast China were enrolled in the present study. Karyotype analysis and chromosomal microarray analysis…

Plasma metabolomics changes comparing daytime to overnight infusions of home parenteral nutrition in adult patients with short bowel syndrome: Secondary analysis of a clinical trial.

BACKGROUND: Home parenteral nutrition (HPN) is often cycled nocturnally and is expected to result in glucose intolerance and sleep disruption partly due to circadian misalignment. This study aimed to define the metabolic response when HPN is cycled during the daytime compared to overnight. METHODS: This secondary analysis leveraged samples from a clinical trial in adults with short bowel syndrome consuming HPN (ClinicalTrials.gov: NCT04743960). Enrolled patients received 1 week of HPN overnight followed by 1 week of HPN during the daytime. Fasting blood samples were collected following each s

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.

OBJECTIVE: This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiplex ligation-dependent probe amplification (MLPA) analysis and sequencing. METHODS: Among 45 patients from 43 independent families, Sanger sequencing, next-generation sequencing (NGS), or microarray was performed in 24 patients from 23 families, and MLPA was performed in 19 patients who did not show rare sequence variants (n = 18) or ANOS1 amplifica

Identification of topoisomerase 2A as a novel bone metastasis-related gene in liver hepatocellular carcinoma.

BACKGROUND: Bone is the second most frequent site of metastasis for Liver hepatocellular carcinoma (LIHC), which leads to an extremely poor prognosis. Identifying novel biomarkers and therapeutic targets for LIHC patients with bone metastasis is urgently needed. METHODS: In this study, we used multiple databases for comprehensive bioinformatics analysis, including TCGA, GEO, ICGC, GTEx, TISIDB, and TIMER, to identify key genes related to bone metastasis of LIHC. Clinical tissues and tissue microarray were adopted to assess the expression of TOP2A through qRT-PCR and immunohistochemistry analy

Identification and analysis of novel endometriosis biomarkers via integrative bioinformatics.

Endometriosis is a gynecological disease prevalent in women of reproductive age, and it is characterized by the ectopic presence and growth of the eutopic endometrium. The pathophysiology and diagnostic biomarkers of endometriosis have not yet been comprehensively determined. To discover molecular markers and pathways underlying the pathogenesis of endometriosis, we identified differentially expressed genes (DEGs) in three Gene Expression Omnibus microarray datasets (GSE11691, GSE23339, and GSE7305) and performed gene set enrichment analysis (GSEA) and protein-protein interaction (PPI) network

Profiles of transcriptome and metabolic pathways after hypobaric hypoxia exposure.

BACKGROUND: Hypoxia is a risk factor for non-alcoholic fatty liver diseases, leading to permanent imbalance of liver lipid homeostasis and steatohepatitis. However, a detailed understanding of the metabolic genes and pathways involved remains elusive. METHODS: In vivo experiments were designed to analyze body weight and lipid metabolism changes of rats under hypoxia. After this, we combined microarray analysis and gene overexpression experiments to validate the core mechanisms involved in the response to hypoxia. RESULTS: The hypobaric hypoxia treated rats exhibited significantly increased s…

B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21.

Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is associated with various specific cytogenetic and molecular markers that significant … with a constitutional ring chromosome 21, r(21)c, uncovered after B-ALL diagnosis. Cytogenetic and microarray analysis of the post-therapy sample revealed an abnormal chromosome 21 lacking a satellite and having a deletion of the terminal 22q22.3 region, consistent with a constitutional ring chromosome 21, r(21)(p11.2q22). On a retrospective analysis, this ring chro …

Mitochondrial STAT3 exacerbates LPS-induced sepsis by driving CPT1a-mediated fatty acid oxidation.

Rationale: We found that a subset of signal transducer and activator of transcription 3 (STAT3) translocated into mitochondria in phagocytes … s in vivo were subsequently performed in an LPS-induced sepsis model. Single-cell RNA sequencing, a microarray analysis, metabolic assays, mass spectrometry and ChIP assays were utilized to gain insight into the mechanisms of mitochondrial STAT3 in metabolic reprogramming in LPS-induced sepsis. Results: We found that mitochondrial STAT3 induced NF-κB nuclear localiza …

A novel role of miR-326 in colorectal carcinoma by regulating E2F1 expression.

PURPOSE: Colorectal carcinoma (CRC) ranks third in incidence but second in mortality worldwide, ascertaining the pathogenesis of CRC is crucial for its treatment. Accumulating studies have shown that E2F1 is a key regulator in CRC progression, which regulates the transcription of genes engaged in DNA replication, mitosis and survival of cancer patients, however, the mechanism of these processes is not fully elucidated. METHODS: Here, we determined E2F1 expression in clinical CRC specimens by TCGA database analysis, Microarray immunohistochemical technique and Western blot, respectively. The e

Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review.

RATIONALE: 1q21.1 duplication is an uncommon chromosomal submicroscopic imbalance which is associated with growth/mental retardation, dysmorphic features, autism, multiple congenital and neuropsychiatric disorders. PATIENT CONCERNS: Two pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) following abnormal ultrasound findings. Case 1 presented short nasal bone and case 2 showed absent nasal bone, ventricular septal defect and umbilical cord circling in ultrasonic examination. DIAGNOSES: G-banding analysis showed that the two fetuses prese…