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Incorporating slow NMDA-type receptors with nonlinear voltage-dependent magnesium block in a next generation neural mass model: derivation and dynamics
We derive a next generation neural mass model of a population of quadratic-integrate-and-fire neurons, with slow adaptation, and conductance-based...
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Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized...
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LncRNA BBOX1-AS1 Contributes to Laryngeal Carcinoma Progression by Recruiting SRSF1 to Maintain EFNB2 mRNA Stability
Laryngeal cancer is a common malignancy of the larynx with a generally poor prognosis. This study systematically assessed the functional role of...
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Analysis of human papillomavirus type 16 E4, E5 and L2 gene variations among women with cervical infection in **njiang, China
BackgroundThere is a high incidence of cervical cancer in **njiang. Genetic variation in human papillomavirus may increase its ability to invade,...
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The chromatin accessibility and transcriptomic landscape of the aging mice cochlea and the identification of potential functional super-enhancers in age-related hearing loss
BackgroundPresbycusis, also referred to as age-related hearing loss (ARHL), is a condition that results from the cumulative effects of aging on an...
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A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
BackgroundThe SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this...
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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale de novo burden analysis...
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A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching
BackgroundGATA1-related cytopenia (GRC) is characterized by thrombocytopaenia and/or anaemia ranging from mild to severe. Haematopoietic stem cell...
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Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of CDKN2A: a case report
BackgroundGermline mutations in CDKN2A result in Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM) (OMIM #155,601), which is associated with...
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Homopolymer switches mediate adaptive mutability in mismatch repair-deficient colorectal cancer
Mismatch repair (MMR)-deficient cancer evolves through the stepwise erosion of coding homopolymers in target genes. Curiously, the MMR genes MutS...
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Respiratory infection- and asthma-prone, low vaccine responder children demonstrate distinct mononuclear cell DNA methylation pathways
BackgroundInfants with frequent viral and bacterial respiratory infections exhibit compromised immunity to routine immunizations. They are also more...
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Tracking the Plasma C-Terminal Agrin Fragment as a Biomarker of Neuromuscular Decline in 18- to 87-Year-Old Men
ObjectivesPlasma C-terminal agrin-fragment-22 (CAF22), a breakdown product of neuromuscular junction, is a potential biomarker of muscle loss....
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Exosomal miR-17-92 Cluster from BMSCs Alleviates Apoptosis and Inflammation in Spinal Cord Injury
Spinal cord injury (SCI) involves neuronal apoptosis and axonal disruption, leading to severe motor dysfunction. Studies indicate that exosomes...
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Developmental change of brain volume in Rett syndrome in Taiwan
ObjectiveRett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on brain volume...
