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Association of intercellular adhesion molecule 1 (ICAM-1) (rs5498) genetic polymorphism and dengue in Sabah East Malaysia populationNARA Subscribed
Background Dengue remains a significant public health challenge in Malaysia, particularly in Sabah where indigenous populations such as the Kadazan-Dusun and Bajau are highly affected. Host genetic factors, including polymorphisms in immune-related genes, may influence individual susceptibility to dengue infection. This study investigates the association between Intercellular Adhesion Molecule-1 (ICAM-1) rs5498 (K469E) polymor...
Climate‐driven changes in extreme precipitation and floods severely impact societies and ecosystems, yet regional spatial and temporal nuances remain poorly understood, including in the Hawaiian Islands. This study utilised stationary and non‐stationary Generalised Extreme Value (GEV) distributions, annual maximum series (AMS), and circular analysis to examine extreme hourly rainfall across 117 gauges on the five most populate...
Motivation Here, we make available a second version of the BioTIME database, which compiles records of abundance estimates for species in sample events of ecological assemblages through time. The updated version expands version 1.0 of the database by doubling the number of studies and includes substantial additional curation to the taxonomic accuracy of the records, as well as the metadata. Moreover, we now provide an R packag...
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysisNARA Subscribed
TMPRSS3 -related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled with retrospective clinical phenotype analysis on 127 individuals. These individuals were from 16 academic medical centers across 6 countries. Key findings revealed 47 unique TMPRSS3 variants with significant differe...
Deletion of TRPC6, an Autism Risk Gene, Induces Hyperexcitability in Cortical Neurons Derived from Human Pluripotent Stem CellsNARA Subscribed
Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder linked to numerous rare, inherited, and arising de novo genetic variants. ASD often co-occurs with attention-deficit hyperactivity disorder and epilepsy, which are associated with hyperexcitability of neurons. However, the physiological and molecular mechanisms underlying hyperexcitability in ASD remain poorly understood. Transient recept...