Results 211 to 220 of about 775,451 (311)
Principles of 3′ splice site selection and alternative splicing for an unusual group II intron from Bacillus anthracis [PDF]
Aaron R. Robart +3 more
openalex +1 more source
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source
High-affinity binding site for a group II intron-encoded reverse transcriptase/maturase within a stem–loop structure in the intron RNA [PDF]
Kazuo Watanabe, Alan M. Lambowitz
openalex +1 more source
A pilot study on DNA methylation changes for non‐invasive molecular diagnostics in heart failure
A liquid biopsy approach integrating the high‐resolution RRBS DNA methylation platform and network‐oriented strategy identified the hypomethylation of CPTA1, CKAP4, SPTB, SYT6, EIF2S2, and RAB11FIP1 genes as useful biomarkers in distinguishing between ischaemic and non‐ischaemic HF aetiologies.
Giuditta Benincasa +7 more
wiley +1 more source
New Strategies for Exploring RNA's 2′-OH Expose the Importance of Solvent during Group II Intron Catalysis [PDF]
Peter M. Gordon +6 more
openalex +1 more source
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
Abstract Regulatory genetic toxicology focuses on DNA damage and subsequent gene mutations. However, genotoxic agents can also affect epigenetic marks, and incorporation of epigenetic data into the regulatory framework may thus enhance the accuracy of risk assessment.
Roger Godschalk +4 more
wiley +1 more source
An obligate intermediate along the slow folding pathway of a group II intron ribozyme [PDF]
Linhui Julie Su
openalex +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source

