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The association between atherosclerosis and nonalcoholic fatty liver disease.

Atherosclerosis (AS) is closely related to nonalcoholic fatty liver disease (NAFLD), which promotes and exacerbates the development of AS. However, it is uncertain how the precise underlying mechanism occurs. Here, we attempted to further explore the association underlying atherosclerosis and nonalcoholic fatty liver disease through integrated bioinformatics analysis. Microarray data for atherosclerosis and nonalcoholic fatty liver disease were retrieved from the Gene Expression Omnibus (GEO) database. Weighted gene co-expression network analysis (WGCNA) was used to identify the genes related

Matrix metalloproteinase 7 is a candidate biomarker in systemic sclerosis-associated interstitial lung disease.

BACKGROUND: Pulmonary complications, including pulmonary fibrosis, are the leading causes of death in systemic sclerosis(SSc). However, the aetiology and pathophysiologic mechanisms of the disease have not been comprehensively investigated, and drugs for treating systemic sclerosis-associated interstitial lung disease (SSc-ILD) are limited. The objective of this study was to identify key novel genes and pathways linked to SSc-ILD and decipher the molecular mechanisms involved in the disease. METHODS: We compared three microarray datasets in the GEO database including 42 SSc-ILD samples and 18

Tumor-Stroma Proportion to Predict Chemoresistance in Patients With Ovarian Cancer.

IMPORTANCE: Platinum-based chemotherapy is the backbone of standard-of-care treatment for patients with advanced-stage, high-grade serous carcinoma (HGSC), the most common form of ovarian cancer; however, one-third of patients have or acquire chemoresistance toward platinum-based therapies. OBJECTIVE: To demonstrate the utility of tumor-stroma proportion (TSP) as a predictive biomarker of chemoresistance of HGSC, progression-free survival (PFS), and overall survival (OS). DESIGN, SETTING, AND PARTICIPANTS: This prognostic study leveraged tumors from patients with HGSC in The Cancer Genome At

The first neonatal case of Juvenile Paget disease with homozygous deletion in the TNFRSF11B gene.

OBJECTIVES: Juvenile Paget disease (JPD) is a very rare autosomal recessive inherited bone metabolism disorder caused by osteoprotegerin (OP … hatase (ALP) levels was observed, and the bone-specific ALP level was found to be high. Chromosomal microarray analysis showed 251,4 kilobase homozygous deletion in the 8q24.12 region encoding the TNFRSF11B gene. CONCLUSIONS: JPD should be considered in the differential diagnosis when there is bone deformity in the neonatal period, along with a marked, serial increa …

Quantitative digital pathology reveals morphological and molecular correlates of tumor aggressiveness in prostate cancer.

Digital pathology enables objective evaluation of prognostic markers in prostate cancer through integrated morphological and molecular analysis. In this study, 72 radical prostatectomy samples were analyzed using tissue microarrays and whole-slide imaging, with tumor regions annotated by pathologists and quantified in QuPath for PTEN, Ki-67, ATM, CD8, and key histological features. PTEN quantification showed high variability and limited predictive value (AUC = 0.61). Cribriform morphology was significantly associated with advanced pathological stage, non-organ-confined tumors, and a profile of

Microbial crosstalk with dermal immune system: A review on emerging analytical methods for macromolecular detection and therapeutics.

According to global health metrics, clinical symptoms such as cellulitis and pyoderma associated with skin diseases are a significant burden worldwide, affecting 2.2 million disability-adjusted life years in 2020. There is a strong correlation between the commensal bacteria and the host immune system. Classical methods deployed in dermal biofilm crosstalk studies often hamper many individuals from early diagnosis and rationalized therapy. Herein, the present report aims to study the role of skin microbiota and mechanisms of microbial crosstalk with host immune system. The emerging analytical t

HIHISIV: a database of gene expression in HIV and SIV host immune response.

In the battle of the host against lentiviral pathogenesis, the immune response is crucial. However, several questions remain unanswered about the interaction with different viruses and their influence on disease progression. The simian immunodeficiency virus (SIV) infecting nonhuman primates (NHP) is widely used as a model for the study of the human immunodeficiency virus (HIV) both because they are evolutionarily linked and because they share physiological and anatomical similarities that are largely explored to understand the disease progression. The HIHISIV database was developed to support

Approach to the Patient With Short Stature: Genetic Testing.

The first step in the evaluation of the short child is to decide whether growth parameters in the context of the history are abnormal or a variant of normal. If growth is considered abnormal, system and hormonal tests are likely to be required, followed by more directed testing, such as skeletal survey and/or genetic screening with karyotype or microarray. In a small percentage of short children in whom a diagnosis has not been reached, this will need to be followed by detailed genetic analysis; currently, exome sequencing using targeted panels relevant to the phenotype is the commonly used te

A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of motile cilia. With few exceptions, PCD is an autosomal recessive … al sample did not show the splice variant, and homozygosity was observed across the paternal locus. Microarray analysis showed a 50 kb heterozygous deletion spanning the genes TTC25 and CNP. This is the first example of a pathogenic gross deletion in trans with a splice variant, resulting in TTC25-related PCD.

Review-Current Concepts in Inflammatory Skin Diseases Evolved by Transcriptome Analysis: In-Depth Analysis of Atopic Dermatitis and Psoriasis.

During the last decades, high-throughput assessment of gene expression in patient tissues using microarray technology or RNA-Seq took center stage in clinical research. Insights into the diversity and frequency of transcripts in healthy and diseased conditions provide valuable information on the cellular status in the respective tissues. Growing with the technique, the bioinformatic analysis toolkit reveals biologically relevant pathways which assist in understanding basic pathophysiological mechanisms. Conventional classification systems of inflammatory skin diseases rely on descriptive asses

Геномический диагноз детских расстройств: революция и эволюция.

Мощные, последние достижения в технологиях анализа генома оказали глубокое воздействие на практику медицинской генетики как в лаборатории, так и в клинике. Более широкое использование общегеномных тестов, таких, как анализ хромосомных микроарра и последовательность экзомов, привело к переходу к "генотипному" подходу. В настоящее время имеются многочисленные методы диагностики конкретного синдрома или фенотипа, и, хотя традиционные методы остаются эффективными инструментами в некоторых ситуациях, технологии с более высокой производительностью фактически стали лабораторным инструментом диагности

Совпадение в аннотации оригинала
Powerful, recent advances in technologies to analyze the genome have had a profound impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing utilization of genome-wide testing such as chromosomal microarray analysis and exome sequencing have lead a shift toward a "genotype-first" approach. Numerous techniques are now a…

Characterization of a novel microRNA, miR-188, elevated in serum of muscular dystrophy dog model.

MicroRNAs (miRNAs) are non-coding small RNAs that regulate gene expression at the post-transcriptional level. Several miRNAs are exclusively expressed in skeletal muscle and participate in the regulation of muscle differentiation by interacting with myogenic factors. These miRNAs can be found at high levels in the serum of patients and animal models for Duchenne muscular dystrophy, which is expected to be useful as biomarkers for their clinical conditions. By miRNA microarray analysis, we identified miR-188 as a novel miRNA that is elevated in the serum of the muscular dystrophy dog model, CXM…

Nicotinamide Phosphoribosyl Transferase a Reliable Marker of Progression in Cervical Dysplasia.

BACKGROUND/AIM: Nicotinamide phosphoribosyl transferase (Nampt) catalyses the rate-limiting step of the mammalian nicotinamide adenine dinucleotide (NAD) salvage pathway. Nampt is highly expressed in several epithelial and mesenchymal neoplasms, where is promotes cell-cycle progression ans chemotherapy resistance. To our knowledge, alterations in Nampt expression have not been examined in cervical intraepithelial neoplasia (CIN) or squamous cell carcinoma (SCC). MATERIALS AND METHODS: We performed immunohistochemical analysis for Nampt using tissue microarrays on 14 samples of benign cervical

Deletion of from Streptococcus pyogenes. Results in Hypervirulence in a Mouse Model of Sepsis and is LuxS Independent.

Group A Streptococcus (GAS) is a Gram-positive human pathogen that causes a variety of diseases ranging from pharyngitis to life-threatening streptococcal toxic shock syndrome. Recently, several global gene expression analyses have yielded extensive new information regarding the regulation of genes encoding known and putative virulence factors in GAS. A microarray analysis found that transcription of the GAS gene M5005_Spy_1343 was significantly increased in response to interaction with human polymorphonuclear leukocytes. M5005_Spy_1343 is predicted to encode a member of the LysR family of tra…

Transcriptome analysis of human brain tissue identifies reduced expression of complement complex C1Q Genes in Rett syndrome.

BACKGROUND: MECP2, the gene mutated in the majority of Rett syndrome cases, is a transcriptional regulator that can activate or repress transcription. Although the transcription regulatory function of MECP2 has been known for over a decade, it remains unclear how transcriptional dysregulation leads to the neurodevelopmental disorder. Notably, little convergence was previously observed between the genes abnormally expressed in the brain of Rett syndrome mouse models and those identified in human studies. METHODS: Here we carried out a comprehensive transcriptome analysis of human brain tissue

A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.

Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect copy number variations was carried out using an Affymetrix microarray platform, and the genes affected by the patient's deletion, including IHH, were determined. However, no copy number changes were observe

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

Complex chromosome rearrangements (CCRs) are extremely rare in humans. About 20% of the apparently balanced CCRs have an abnormal phenotype and the degree of severity correlates with a higher number of breakpoints. Several studies using FISH and microarray technologies have shown that deletions in the breakpoints are common although duplications, insertions and inversions have also been detected. We report a patient with two simultaneous reciprocal translocations, t(3;4) and t(2;14;18), involving five chromosomes and six breakpoints. He showed dysmorphic features, preaxial polydactyly in the l

Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics.

Amyotrophic lateral sclerosis (ALS) is a motor neuron disease characterized by degeneration and loss of upper and lower motor neurons from the motor cortex, brainstem and spinal cord although evidence is suggesting that there is further involvement of other cell types in the surrounding tissue. Transcriptomic analysis by gene expression profiling using microarray technology has enabled the determination of patterns of cell death in the degenerating tissues. This work has examined gene expression at the level of the tissue and individual cell types in both sporadic and familial forms of the dis

Biochemical genomics for gene discovery in benzylisoquinoline alkaloid biosynthesis in opium poppy and related species.

Benzylisoquinoline alkaloids (BIAs) are a large, diverse group of ∼2500 specialized plant metabolites. Many BIAs display potent pharmacological activities, including the narcotic analgesics codeine and morphine, the vasodilator papaverine, the cough suppressant and potential anticancer drug noscapine, the antimicrobial agents sanguinarine and berberine, and the muscle relaxant (+)-tubocurarine. Opium poppy remains the sole commercial source for codeine, morphine, and a variety of semisynthetic drugs, including oxycodone and buprenorphine, derived primarily from the biosynthetic pathway interme

miR-335 is involved in the rat epididymal development by targeting the mRNA of RASA1.

The expression of 350 miRNAs during the rat epididymal development was profiled by a home-made miRNA microarray recently. The results showed that the expression of miR-335 decreased from postnatal day 7 to 49 in the rat epididymis. Few studies on miR-335's roles in the epididymis and its targets have been reported so far. The bioinformatic analysis indicated that one of miR-335's putative targets is RASA1, a known gene related to cell proliferation and anti-apoptosis, which may contribute to the epididymal development. It was found that the overexpression of miR-335 in NIH/3T3 cells caused the