Results 161 to 170 of about 113,396 (329)
ABSTRACT Gene mutations can be detected in mammalian cells in vitro using indicator genes such as the hypoxanthine‐guanine‐phosphoribosyltransferase (HPRT) gene. These assays have been adopted as OECD test guidelines (TG, e.g., OECD TG no. 476) and are used for regulatory purposes.
Alina Göpfert +5 more
wiley +1 more source
The transcriptional antisilencer VirB acts as a master regulator of virulence gene expression in the human pathogen Shigella flexneri. It binds DNA sequences (virS) upstream of VirB-dependent promoters and counteracts their silencing by the nucleoid ...
Sara Jakob +12 more
doaj +1 more source
Comparison of bacterial communities of tilapia fish from Cameroon and Vietnam using PCR-DGGE (polymerase chain reaction-denaturing gradient gel electrophoresis) [PDF]
Fishes in general and tilapia in particular are traded all over the world. However, it is difficult to find out their exact geographical location. One of the techniques used in the traceability of fish and its byproducts consist in analysing in a global ...
Loiseau, Gérard +4 more
core
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz +73 more
wiley +1 more source
DNA clamp function of the monoubiquitinated Fanconi anaemia ID complex. [PDF]
Wang R +4 more
europepmc +1 more source
Requirement for ATP by the DNA Damage Checkpoint Clamp Loader [PDF]
Jerzy Majka +2 more
openalex +1 more source
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan +23 more
wiley +1 more source
Abstract Objective We have established a comprehensive sample handling protocol designed for the multiscale assessment of epileptogenic tissue. This protocol aims to identify novel therapeutic targets and enhance the diagnosis and stratification of patients with drug‐resistant epilepsy, thereby optimizing their treatment with anti‐seizure medications ...
Jenni Kyyriäinen +24 more
wiley +1 more source
Rules governing the efficiency and polarity of loading a tracking clamp protein onto DNA: determinants of enhancement in bacteriophage T4 late transcription. [PDF]
Glenn M. Sanders +2 more
openalex +1 more source
Clock gene dysregulation in epilepsy: A systematic review
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

