Publications by authors named "Bert Mueller"
Article Synopsis
- The study investigates the roles of hypoxia and hypoxia inducible factor (HIF) in chronic kidney disease (CKD), revealing that HIF activation and hypoxia levels do not significantly correlate in early stages of the disease.* -
- Findings show that while there is some hypoxia in late CKD stages, it does not coincide with fibrosis; instead, there is a notable increase in asparaginyl hydroxylase (FIH) expression linked to CKD severity.* -
- The research suggests that inhibiting FIH pharmacologically could improve kidney function and reduce fibrosis, questioning the previously assumed role of HIF in CKD progression.*
CHARGE (Coloboma of the iris or retina, heart defects, atresia of the choanae, retardation of growth and/or development, genital anomalies, ear anomalies) syndrome (OMIM #214800) affects about 1 in 10,000 children and is most often caused by chromodomain helicase DNA-binding protein-7 (CHD7) mutations. Inner ear defects and vestibular abnormalities are particularly common. Specifically, semicircular canal (SCC) hypoplasia/aplasia and the presence of a Mondini malformation can be considered pathognomonic in the context of congenital malformations of the CHARGE syndrome.
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