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Comprehensive and deep evaluation of structural variation detection pipelines with third-generation sequencing data
BackgroundStructural variation (SV) detection methods using third-generation sequencing data are widely employed, yet accurately detecting SVs...
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Coronary periarteritis and pericarditis are rare but distinct manifestations of heart involvement in IgG4-related disease: a retrospective cohort study
BackgroundThe heart can be involved in immunoglobulin (Ig)-G4-related disease (IgG4-RD). This study aimed to summarize the clinical features and...
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3Dimensional sonography for the diagnosis of congenital uterine anomalies in women with eccentric pregnancy implantation: a novel approach
PurposeThe eccentric implantation of pregnancies in the upper lateral aspect of the uterine cavity is poorly defined clinically. The aim of the...
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Post-implantation analysis of genomic variations in the progeny from develo** fetus to birth
The analysis of genomic variations in offspring after implantation has been infrequently studied. In this study, we aim to investigate the extent of de...
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Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes
BackgroundThe genetic background of cancer remains complex and challenging to integrate. Many somatic mutations within genes are known to cause and...
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The developmental phenotype of motor delay in extremely preterm infants following early-life respiratory adversity is influenced by brain dysmaturation in the parietal lobe
BackgroundResearch indicates that preterm infants requiring prolonged mechanical ventilation often exhibit suboptimal neurodevelopment at follow-up,...
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Systemic interindividual DNA methylation variants in cattle share major hallmarks with those in humans
BackgroundWe recently identified ~ 10,000 correlated regions of systemic interindividual epigenetic variation (CoRSIVs) in the human genome. These...
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YAP/TAZ interacts with RBM39 to confer resistance against indisulam
The Hippo pathway and its downstream effectors, Yes-associated protein/transcriptional coactivator with PDZ-binding motif (YAP/TAZ), are essential...
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A nonoscillatory, millisecond-scale embedding of brain state provides insight into behavior
The most robust and reliable signatures of brain states are enriched in rhythms between 0.1 and 20 Hz. Here we address the possibility that the...
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Unlocking opioid neuropeptide dynamics with genetically encoded biosensors
Neuropeptides are ubiquitous in the nervous system. Research into neuropeptides has been limited by a lack of experimental tools that allow for the...
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Synthetic datasets for open software development in rare disease research
BackgroundGlobally, researchers are working on projects aiming to enhance the availability of data for rare disease research. While data sharing...
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Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease
BackgroundLate-onset Pompe disease (LOPD) is mainly characterized by progressive limb-girdle muscle weakness and respiratory impairment, whereas...
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PIM1/NF-κB/CCL2 blockade enhances anti-PD-1 therapy response by modulating macrophage infiltration and polarization in tumor microenvironment of NSCLC
Elevated infiltration of tumor-associated macrophages (TAMs) drives tumor progression and correlates with poor prognosis for various tumor types. Our...
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An ensemble deep learning models approach using image analysis for cotton crop classification in AI-enabled smart agriculture
BackgroundAgriculture is one of the most crucial assets of any country, as it brings prosperity by alleviating poverty, food shortages, unemployment,...
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Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies
BackgroundChildhood epilepsies are caused by heterogeneous underlying disorders where approximately 40% of the origins of epilepsy can be attributed...
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Heterotopic ovarian transplantation instead hormonal replacement therapy after radical hysterectomy for cervical cancer: case report and review of literature
PurposeOnly a few case reports have described heterotopic ovarian tissue transplantation (OTT) with the only objective of restoring ovarian function.
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