Results 131 to 140 of about 306,770 (339)
Environmental and Molecular Mutagenesis, EarlyView.Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons +17 more
wiley +1 more source
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]
, 2016 PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G +7 more
core
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. [PDF]
, 2001 Dystrophin-deficient muscles experience large reductions in expression of nitric oxide synthase (NOS), which suggests that NO deficiency may influence the dystrophic pathology.
Spencer, MJ, Tidball, JG, Wehling, M
core
Clock gene dysregulation in epilepsy: A systematic review
Epilepsia Open, EarlyView.Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos +3 more
wiley +1 more source
Advances in Double‐Stranded DNA Targeting Technologies
Exploration, EarlyView.Double‐stranded DNA (dsDNA) plays a crucial role in genetic information storage and disease management, but its inherent stability limits access to internal bases. To overcome this challenge, various high‐specificity molecular targeting technologies have been developed to destabilize the DNA structure.
Zuhao Shen +8 more
wiley +1 more source
Survival of patients with Duchenne muscular dystrophy who underwent spinal deformity correction [PDF]
, 2023 Ayesha Arshad, Athanasios I. Tsirikos
openalex +1 more source
Head &Neck, EarlyView.ABSTRACT Background Segmental tracheal resection is rarely needed for advanced thyroid cancer but is among the most complex, high‐risk thyroid surgeries. Methods Retrospective study of patients undergoing segmental tracheal resection for thyroid cancer at MD Anderson Cancer Center (2005–2024).
Anastasios Maniakas +19 more
wiley +1 more source