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Uncovering essential anesthetics-induced exosomal miRNAs related to hepatocellular carcinoma progression: a bioinformatic investigation
BackgroundAnesthetic drugs may alter exosomal microRNA (miRNA) contents and mediate cancer progression and tumor microenvironment remodeling. Our...
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ZEB family is a prognostic biomarker and correlates with anoikis and immune infiltration in kidney renal clear cell carcinoma
BackgroundZinc finger E-box binding homEeobox 1 (ZEB1) and ZEB2 are two anoikis-related transcription factors. The mRNA expressions of these two...
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Integrating system biology and intratumor gene therapy by trans-complementing the appropriate co-stimulatory molecule as payload in oncolytic herpes virus
Systems biology has been applied at the multi-scale level within the cancer field, improving cancer prevention, diagnosis and enabling precision...
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POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program
Protection of Telomeres Protein 1 (POT1) protein is an essential subunit of the shelterin telomere binding complex, regulating telomere length. Some POT1...
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Manipulating the tumour immune microenvironment by N6-methyladenosine RNA modification
N6-methyladenosine (m6A), a posttranscriptional regulatory mechanism, is the most common epigenetic modification in mammalian mRNA. M6A modifications...
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Superoxide dismutase 1-modified dental pulp stem cells alleviate high-altitude pulmonary edema by inhibiting oxidative stress through the Nrf2/HO-1 pathway
High-altitude pulmonary edema (HAPE) is a deadly form of altitude sickness, and there is no effective treatment for HAPE. Dental pulp stem cells...
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Genetic association map** leveraging Gaussian processes
Gaussian processes (GPs) are a powerful and useful approach for modelling nonlinear phenomena in various scientific fields, including genomics and...
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Deciphering the molecular nexus of BTG2 in periodontitis and diabetic kidney disease
ObjectiveTo investigate the role of BTG2 in periodontitis and diabetic kidney disease (DKD) and its potential underlying mechanism.
Methods ...
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Delayed diagnosis of mild mucopolysaccharidosis type IVA
BackgroundMucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase ( GALNS...
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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are...
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Pharmacokinetic and neuroimmune pharmacogenetic impacts on slow-release morphine cancer pain control and adverse effects
The aim was to determine if opioid neuroimmunopharmacology pathway gene polymorphisms alter serum morphine, morphine-3-glucuronide and...
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Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series
BAP1-Tumor Predisposition Syndrome (TPDS) is caused by germline variants in BAP1 and predisposes to solid tumors. After observation of a...
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Clinical and molecular characteristics of Korean patients with Kabuki syndrome
IntroductionKabuki syndrome (KS) is a rare disorder characterized by typical facial features, skeletal anomalies, fetal fingertip pad persistence,...
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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
Pathogenic, largely truncating variants in the ETS2 repressor factor ( ERF ) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK...
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STAC3 disorder: a common cause of congenital hypotonia in Southern African patients
STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and...
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Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
Structural variants (SVs), including large deletions, duplications, inversions, translocations, and more complex events have the potential to disrupt...
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Stemness related lncRNAs signature for the prognosis and tumor immune microenvironment of ccRCC patients
Long non-coding RNAs (lncRNAs) and cancer stem cells (CSCs) are crucial for the growth, migration, recurrence, and medication resistance of tumors....
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Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy
The sodium-dependent multivitamin transporter encoded by SLC5A6 is responsible for uptake of biotin, pantothenic acid, and α-lipoic acid. Thirteen...
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Investigating mobile element variations by statistical genetics
The integration of structural variations (SVs) in statistical genetics provides an opportunity to understand the genetic factors influencing complex...