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BMC Medical Genomics
Scopus
ISSN 1755-8794 · BMC · 2.506 artikel di indeks
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Artikel Jurnal
Seminal long non-coding RNAs as prognostic non-invasive biomarkers in non-obstructive azoospermia
Abstract Background Non-obstructive azoospermia (NOA) is a multifactorial disease with high genetic and phenotypic heterogeneity. The main NOA pathogenesis is still unknown, which makes it challenging to find precise biomarkers for this condition. Long non-coding RNAs (lncRNAs) have been linked to…
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Artikel Jurnal
Cytogenetics in the genomics era: why karyotyping still matters
Abstract Despite advances in next-generation sequencing and optical genome mapping, conventional cytogenetics, particularly karyotyping, remain indispensable in modern medical genomics. It continues to provide critical diagnostic value in constitutional and hematological disorders, offering…
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Artikel Jurnal
DMBX1 expression in colon cancer and its impact on prognosis and the tumor microenvironment
Abstract Background DMBX1 is a transcription factor that plays important roles in various biological processes. However, systematic research on DMBX1 in colon cancer remains limited. This study aimed to investigate the expression characteristics of DMBX1 in colon cancer and its impact on prognosis…
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Artikel Jurnal
Single-cell sequencing-based analysis of CD4 + T-cell and B-cell heterogeneity in patients with lupus nephritis
Abstract Objective Systemic lupus erythematosus (SLE) is a prevalent chronic autoimmune disorder that can affect various organs and tissues throughout the body, with the kidneys being the most commonly involved, often leading to lupus nephritis (LN). Immune cells, notably CD4 + T cells and B cells…
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Artikel Jurnal
Analysis of LRP1 gene mutation in developmental dysplasia of the hip: a case series
Abstract Developmental dysplasia of the hip (DDH) is a multifactorial disorder that affects 0.56–3.8% of newborns worldwide. Recent research has identified several candidate genes potentially involved in DDH pathogenesis, with LRP1 investigated as a candidate gene due to its regulatory role in…
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Artikel Jurnal
The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner’s deformity in a Chinese Han pedigree
Abstract Objective Kirner’s deformity is a progressive deformity of the distal phalange of the little finger in a volar and radial direction. The FGFR2 gene plays a critical role in skeletal development and growth, with abnormal expression and activation of FGFR2 being associated with skeletal…
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Artikel Jurnal
Elucidating the mechanisms of bisphenols-induced male spermatogenesis disorder via network toxicology, molecular docking and bioinformatics
Abstract Bisphenols (BPs), are extensively utilized in various manufacturing industries, leading to increased human exposure and detection in diverse environments, posing potential risks to reproductive health. This study endeavors to investigate whether seven BP compounds result in male…
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Artikel Jurnal
Discovery of new MicroRNAs and their mRNA targets in patients with acute ischemic stroke
Abstract Background In this study, we applied microarray, bioinformatics, and qRT-PCR techniques to identify miRNAs and their target genes in plasma obtained from acute ischemic stroke patients and matching controls. Methods Microarray analyses were performed with 24-h acute ischemic stroke vs…
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Artikel Jurnal
TMEM201 regulates tumor malignancy and immune microenvironment in lower-grade glioma
Abstract Background TMEM201, a nuclear membrane protein, is thought to play an important role in tumor progression, but its involvement in lower-grade glioma (LGG) remains unclear. This study aims to investigate the impact of TMEM201 expression on the prognosis, clinical characteristics, and…
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Artikel Jurnal
Designing inclusive newborn sequencing research: insights from parents in underrepresented communities
Abstract Background It is essential that studies of genomic sequencing (GS) in newborns and children include individuals from under-represented racial and ethnic groups (URG) to ensure future applications are equitably implemented. We conducted interviews with parents from URG to better understand…
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Artikel Jurnal
Clinical significance and impact on the cell behaviors of miR-758-5p/MMP-2 axis in ovarian cancer cells
Abstract Background Ovarian cancer (OC) is one of the most lethal gynecological malignant tumors globally. Objectives The objective of this research was to investigate the clinical significance and biological roles of the microRNA (miR)-758-5p/MMP-2 axis in OC. Materials and methods This study…
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Artikel Jurnal
North Carolina primary care provider perspectives on expanded genomic screening in children
Abstract Background Expanding pediatric genomic screening beyond current newborn screening presents both opportunities and challenges to primary care providers. We are developing a novel paradigm called Age-Based Genomic Screening (ABGS), which will incorporate targeted genomic sequencing for…
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Artikel Jurnal
CDK9 Inhibition with enitociclib reveals influence on HERV and LINE RNA abundances in whole blood, T-, and B-Cell lines
Abstract Endogenous retroelements (EREs) comprise a significant portion of the human genome and there is a growing appreciation for their roles in eukaryotic physiology. In lymphomas, EREs may contribute to proto-oncogene expression and their RNA expression can be useful to better define lymphoma…
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Artikel Jurnal
Identification and validation of PANoptosis-related genes in ankylosing spondylitis
Abstract Ankylosing spondylitis (AS) is a common immune inflammatory disease. PANoptosis, as a novel programmed cell death pathway, its mechanism of action in ankylosing spondylitis remains unclear. Therefore, this study aims to clarify the role of a novel programmed cell death pattern - PANoptosis…
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Artikel Jurnal
Benchmarking Illumina and Oxford Nanopore Technologies (ONT) sequencing platforms for whole genome sequencing of bacterial genomes and use in clinical microbiology
Abstract Background In microbial diagnostics, whole-genome sequencing (WGS) is used to address key questions such as species identification, presence of antimicrobial resistance genes (ARGs), virulence genes, and outbreak detection. The choice of sequencing technology is crucial to ensure…
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Artikel Jurnal
Decoding the diabetes-pancreatic adenocarcinoma connection: the critical role of PILRA in intermediate monocyte activity
Abstract Diabetes is a well-known risk factor for pancreatic adenocarcinoma (PAAD), yet the underlying molecular mechanisms remain unclear. This study employs single-cell sequencing to analyze gene expression patterns and uses Mendelian randomization to assess the association between genetic…
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Artikel Jurnal
First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review
Abstract Background Birt–Hogg–Dubé syndrome (BHDS) is a rare inherited disorder defined by skin lesions, pulmonary cysts, spontaneous pneumothorax, and renal neoplasia. Mutations in the FLCN gene are known causes, and identifying specific variants in different populations is essential for…
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Artikel Jurnal
Improved prognostic survival models for pediatric medulloblastoma using high dimensional gene expression data
Abstract Genetic, epigenetic, and transcriptomic analyses have stratified medulloblastoma (MB) into four canonical subgroups of Wingless Type (WNT), Sonic Hedgehog (SHH), and Group 3 and Group 4, with distinct patient profiles and prognoses. Recent classification strategies have also considered…
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Artikel Jurnal
Role of the PTPN22 C1858T (R263Q) variant in tuberculosis susceptibility: genetic and functional evidence from a South Asian cohort
Abstract Background The PTPN22 gene encodes Lyp, a phosphatase involved in downregulating T-cell receptor signaling and modulating immune homeostasis. Although PTPN22 polymorphisms rs2476601 (R620W) and rs33996649 (R263Q) are associated with autoimmune diseases, their role in infectious diseases…
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Artikel Jurnal
Identification of a novel pathogenic variant in MYLK in an Iranian family with non-syndromic familial aortic aneurysm and dissection by whole-exome sequencing and literature review
Abstract Background Non-syndromic familial thoracic aortic aneurysm and dissection (ns-FTAAD) is an inherited disease that follows an autosomal dominant pattern; however, pinpointing the responsible genes is often complex. The MYLK gene has been identified as one implicated in TAAD, which…
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