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Neutrophils are key cells of the innate immune system. It is now understood that this leukocyte population is diverse in both the basal composition and functional plasticity. Underlying this plasticity is a post-translational framework for rapidly achieving early activation states, but also a transcriptional capacity that is becoming increasingly recognized by immunologists.
Severity and disease progression in people with Cystic Fibrosis is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides. CFTR exon 9 is an in-frame exon and hence the exclusion of this exon would excise only 31 amino acids but not alter the reading frame of the remaining mRNA.
In Aboriginal culture, water is life, holding powerful spiritual and cultural significance and acting as a vital source of connection, food and medicine.
Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.
Improvements in neonatal critical care have resulted in more people than ever reaching adulthood after being born prematurely. At the same time, it is becoming clearer that preterm birth can increase the risk of respiratory disease throughout a person’s lifetime. Awareness that a patient was born preterm can enable early specialist assessment and intervention when there is any concern about lung health.