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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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FADD regulates adipose inflammation, adipogenesis, and adipocyte survival
Adipose tissue, aside from adipocytes, comprises various abundant immune cells. The accumulation of low-grade chronic inflammation in adipose tissue...
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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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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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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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Computational Insights into Papaveroline as an In Silico Drug Candidate for Alzheimer’s Disease via Fyn Tyrosine Kinase Inhibition
Alzheimer’s disease (AD) poses a significant global health challenge, necessitating the exploration of novel therapeutic strategies. Fyn Tyrosine...
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Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients
In paediatric oncology, genomics raises new ethical, legal and psychological issues, as somatic and constitutional situations intersect throughout...
