Pseudoexon Activation in the HMBS Gene as a Cause of the Nonerythroid Form of Acute Intermittent Porphyria

Ligating Dopamine as Signal Trigger onto the Substrate via Metal-Catalyst-Free Click Chemistry for “Signal-On” Photoelectrochemical Sensing of Ultralow MicroRNA Levels

“…MicroRNAs (miRNAs) are single-strand and endogenous nonprotein-coding RNAs with approximately 19–23 nucleotides, which mediate post-transcriptional regulation of specific gene expressions. − In this case, miRNA expression and quantitative profiles can be used as biomarkers for the onset and progression of disease states. , Given the low abundance and similar sequences among family members, it is still a challenge to develop an ultrasensitive detection platform for miRNA. , Inspiringly, ever since the photoelectric effect was discovered by Edmond Becquerel in 1839, the integration of photoelectrochemical (PEC) process with bioanalysis has inaugurated an innovative field of PEC sensing. , Because of the advantages of the cheap instruments, straightforward operation, high sensitivity, and low background signals, PEC sensing possesses desirable potential in biological analysis compared to conventional electrochemical and optical methods. , …”

Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants

“…Quantitative PCR for gene dosage analysis is also useful to exclude large deletions and insertions or functional intronic mutations caused by nonsense-mediated decay 3. A recent report further suggests mRNA analysis to exclude pseudoexon inclusion as a cause of AIP in mutation negative patients 34. Further investigation is required to fully characterise the molecular defect in our patients where no exonic mutation was found.…”

A Chronic Precipitant for Acute Intermittent Porphyria

“…There were no other disturbances to the patient's function, medical baseline or lifestyle, and no other discernible are also commonly seen. Features such as constipation, abdominal distension, vomiting, and hypophosphataemia can be attributed to the ileus that may accompany AIP [1]. Constipation may also result from ingestion of large quantities of chalk.…”

“…Furthermore, subjective appetite scores appear to correlate with serum ferritin [8]. Iron deficiency alone is not thought to be a trigger for AIP [1].…”

“…Clinical diagnosis is often difficult. Despite its autosomal dominant pattern of inheritance, there is only 10-20% penetrance and therefore often a poor family history [1]. A large scale case-control study identified a multitude of possible precipitating factors [2], including many antibiotics, anaesthetic agents and alcohol.…”