Results 211 to 220 of about 775,451 (311)

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

open access: yesDevelopmental Dynamics, EarlyView.
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

A pilot study on DNA methylation changes for non‐invasive molecular diagnostics in heart failure

open access: yesESC Heart Failure, EarlyView.
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]

open access: bronze, 2004
Peter M. Gordon   +6 more
openalex   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

open access: yesEnvironmental 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

Demonstration that the Group II Intron from the Clostridial Conjugative Transposon Tn 5397 Undergoes Splicing In Vivo

open access: green, 2001
Adam P. Roberts   +3 more
openalex   +1 more source

Epigenotoxicity: Decoding the epigenetic imprints of genotoxic agents and their implications for regulatory genetic toxicology

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
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

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
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

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