Publications by authors named "B Hopper"
Article Synopsis
- - A patient with Kallmann syndrome (KS) and intellectual disability (ID) was found to have a significant deletion in a specific region of chromosome 12, suggesting that this deletion may be responsible for their conditions rather than the patient's translocation.
- - The research team screened 48 KS patients for mutations at the translocation breakpoints but found none, further supporting the idea that the 12p11.21-12p11.23 deletion is key to the patient's symptoms.
- - Through an analysis of various candidate genes and their expression in relevant tissues, several potential genes linked to KS and ID were identified, including TSPAN11 for KS and others like TM7SF3 and STK38L for neurodevelopment
Article Synopsis
- Scientists found a genetic change in a person with Kallmann syndrome (KS) and intellectual disability (ID) that might be causing these issues.
- They discovered a missing part of the DNA on chromosome 12, which could be linked to KS and ID instead of the original genetic changes they were studying.
- Researchers identified several genes that might be responsible for KS and ID and suggest that more testing is needed to confirm how these genes affect patients.
Background: The objectives of the study were to determine the prevalence of underlying conditions causing pleural effusion in cats and to calculate the positive predictive values, negative predictive values, sensitivity and specificity of radiographic signs to predict aetiology of the pleural fluid.
Methods: Data from 148 cats with pleural effusion and diagnosed with known aetiologies were retrospectively analysed. Sixty one cats had thoracic radiographs evaluated by consensus through pre-defined radiographic signs by two radiologists blinded to the diagnoses.
Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).
Methods: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases.
Interfacial regions are unique chemical reaction environments that can promote chemistry not found elsewhere. The air-water interface is ubiquitous in the natural environment in the form of ocean surfaces and aqueous atmospheric aerosols. Here we investigate the chemistry and photochemistry of pyruvic acid (PA), a common environmental species, at the air-water interface and compare it to its aqueous bulk chemistry using two different experimental setups: (1) a Langmuir-Blodgett trough, which models natural water surfaces and provides a direct comparison between the two reaction environments, and (2) an atmospheric simulation chamber (CESAM) to monitor the chemical processing of nebulized aqueous PA droplets.
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