Investigation of the Efficacy of Epidermal Growth Factor Receptor (EGFR)-Tyrosine Kinase Inhibitor in Patients With EGFR Exon 21 L858R Point Mutation-Positive Non-small Cell Lung Cancer. [PDF]
CureusTakahara Y +8 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah +4 more
wiley +1 more source
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia. [PDF]
J Neuromuscul DisCampanale C +9 more
europepmc +1 more source
A single point mutation in the Listeria monocytogenes ribosomal gene rpsU enables SigB activation independently of the stressosome and the anti-sigma factor antagonist RsbV. [PDF]
Front MicrobiolMa X +6 more
europepmc +1 more source
The activating point mutation and the EPOR
Biomedicine & Pharmacotherapy, 1991 openaire +2 more sources
Related searches:
Inverse PCR for Point Mutation Introduction.
Methods in molecular biology, 2017Inverse PCR is a powerful tool for the rapid introduction of desired mutations at desired positions in a circular double-stranded DNA sequence. Here, custom-designed mutant primers oriented in the inverse direction are used to amplify the entire circular template with incorporation of the required mutation(s). By careful primer design it can be used to
Diogo Silva +3 more
semanticscholar +5 more sources
Analysis of Mitochondrial DNA Mutations: Point Mutations
2003Since the first demonstration that mutations of the mitochondrial genome were associated with human disease, more than 100 pathological mitochondrial DNA (mtDNA) defects have been characterized in patients with a broad spectrum of clinical manifestations (1). Single-point mutations, involving either protein-encoding genes or more commonly RNA (rRNA and
Taylor RW +3 more
openaire +4 more sources
A quantum dot-based microRNA nanosensor for point mutation assays.
Chemical Communications, 2014We have developed a quantum dot-based microRNA nanosensor for point mutation assays using primer generation-mediated rolling circle amplification. The proposed method exhibits high sensitivity with a detection limit of as low as 50.9 aM and a large ...
Ya-ping Zeng +5 more
semanticscholar +1 more source
Studies of human diseases have shown that nonsense mutations can alter pre-mRNA splicing. A new study, focusing on the breast cancer susceptibility gene, BRCA1, demonstrates that one explanation lies in a disrupted exonic splicing enhancer rather than a disrupted translational reading frame.
openaire +2 more sources
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
Science, 1993Genetic and metabolic studies have been done on a large kindred in which several males are affected by a syndrome of borderline mental retardation and abnormal behavior.
H. Brunner +4 more
semanticscholar +1 more source