Phenotypically
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Related Articles from SNS
Beta-Adrenergic Stimulation and MYH7 G256E Mutant Gene Dosage Drive Hypertrophic Cardiomyopathy Phenotype Penetrance
Aims Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic heart disorder, characterized by significant phenotypic variability even among individuals with identical MYH7 mutations. This study aims to elucidate factors contributing to this variability and identify drivers of phenotype penetrance. We compared the baseline phenotypes of a highly penetrant MYH7 H251N mutation and the variably penetrant MYH7 G256E mutation and investigated the impact of adding beta-adrenergic...
DXA-Derived Skeletal Phenotypes and Hip Fracture Risk: A Backdoor-Adjusted Causal Analysis
Announce Type: cross Abstract: Purpose: To compare dual-energy X-ray absorptiometry (DXA)-derived hip skeletal phenotypes in relation to hip fracture risk using prespecified confounder adjustment and to assess whether phenotypes ranked by their backdoor-adjusted average treatment effects (ATEs) improve risk stratification. Methods: We analyzed 21,098 UK Biobank participants with linked health records, hip DXA-derived skeletal measures, and prespecified covariates. Sixteen phenotypes spanning...
Integrating longitudinal hyperspectral phenotyping with AI and GWAS to dissect barley waterlogging responses
Waterlogging is a major constraint on barley productivity, yet its dynamic, multi-phase nature makes it challenging to dissect using traditional phenotyping approaches. High-throughput phenotyping (HTP) platforms address this by enabling temporal, multi-sensor imaging of large populations, but generate complex datasets that demand new analytical frameworks. Here, we imaged 230 barley accessions over 14 days of waterlogging stress and seven days of recovery using visible, chlorophyll...
Temporal persistence of admixed phenotypes in a damselfly hybrid zone
In odonates, hybridization has been documented in several species pairs, yet the long-term persistence of hybrid phenotypes remains poorly understood, particularly in Neotropical systems. Here, we investigate a putative hybrid zone between Ischnura capreolus and Ischnura cyane, which overlap along an altitudinal gradient in the Colombian Andes. We combined temporal sampling across sympatric and allopatric localities with multilocus genetic analyses and geometric morphometrics of wings and...
A multimodal perturbation atlas defines the phenotypic resolution of cellular morphology.
Because cells are complex dynamical systems, modeling cellular behaviors requires methods that capture how cells evolve across time, environments, and interventions. Microscopy is uniquely suited to this goal in that it can be applied to living cells in their native context. However, the phenotypic resolving power of live-cell microscopy remains incompletely characterized, particularly relative to molecular assays.
Genetic context drives evolution of divergent antibiotic survival phenotypes in Staphylococcus epidermidis
Effective treatment of infections is a global challenge, complicated by bacteria's capacity to endure antibiotics. Survival under drug pressure is often driven by interactions between genetic factors rather than single genes. To investigate the genomics underlying antibiotic survival, we analysed Staphylococcus epidermidis isolates from clinical infections and carriage using high-throughput phenotyping, population genomics, and directed evolution.
Genotypic and multi-environment phenotypic evaluation of the lima bean USDA National Plant Germplasm System collection
Lima bean (Phaseolus lunatus L.) is an economically and agronomically important grain legume. Lima beans (or limas) show a range of climatic adaptations with independent domestications in the Andes (large-seeded) and Mesoamerica (small- or medium-seeded). We generated and integrated genotypic and comprehensive field- and laboratory-based phenotypic information for the available accessions in the USDA National Plant Germplasm System collection across multiple environments to inform germplasm...
UMITIC: An unsupervised framework for the joint characterization of cellular phenotypes and spatial neighborhoods in multiplex and hyperplex immunofluorescence imaging data
Multiplexed imaging technologies enable the simultaneous measurement of dozens of protein markers while preserving context, providing a high-resolution view of tissue organization schemes. However, extracting meaningful insights from these high-dimensional datasets--particularly in hyperplex settings (>20 markers)--remains a major computational challenge, especially in the absence of annotated data. Here, we present UMITIC (Unsupervised Analysis of Multiplex Images via TIssue...
Dimensional Arousal and Categorical Gaze Instability: Uncoupling the Baseline Oculomotor Phenotypes of Autism and ADHD
Background: Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) share substantial clinical and physiological overlap. While naturalistic and sensory-driven paradigms increasingly capture evoked neurophysiological responses, the intrinsic baseline physiology of these conditions remains poorly defined. We aimed to characterize resting-state autonomic arousal and oculomotor stability across the ASD-ADHD spectrum using both continuous (RDoC) and categorical (DSM-5)...
CRISPR-mediated Stxbp1 gene activation ameliorates epileptic and aggressive phenotypes in Stxbp1-haploinsufficient mice
Mutations in the syntaxin-binding protein 1 (STXBP1) gene, which encodes the presynaptic protein Munc18-1, cause a spectrum of severe epileptic encephalopathies and neurodevelopmental disorders, including Ohtahara syndrome, for which no curative treatment is currently available. Because the disease pathomechanism is thought to be driven by haploinsufficiency, restoring expression of the wild-type allele to physiological levels could provide therapeutic benefit. Here, we evaluated...