Publications by authors named "Seppe Van der Auweraer"
The SPRED family proteins act as negative regulators of the Ras-ERK pathway: the N-terminal EVH1 domain interacts with the Ras-GAP domain (GRD) of the NF1 protein, while the C-terminal Sprouty-related (SPR) domain promotes membrane localization of SPRED, thereby recruiting NF-1 to Ras. Loss-of-function mutations in the hSPRED1 cause Legius syndrome in an autosomal dominant manner. In this study, we investigated the effects of missense mutations in the SPR domain identified in patients with Legius syndrome.
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- Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome that affects the eyes, skin, and central nervous system, linked to specific genetic variants.
- A case study of a patient with Neurofibromatosis type 1 revealed a germline pathogenic variant associated with ECCL, suggesting a broader relationship between these conditions.
- Genetic analysis indicated biallelic inactivation happening early in embryonic development, which could explain the severe abnormalities typical of ECCL, activating the RAS-MAPK pathway and demonstrating different forms of mosaicism contributing to the phenotype.
Antibiotics are considered one of the great "miracles" of the 20th century. Now in the 21st century in the post-antibiotic era, the miracle is turning into a nightmare, due to the growing problem of the resistance of microorganisms to classic antimicrobials and the non-investment by the pharmaceutical industry in new antimicrobial agents. Unfortunately, the current COVID-19 pandemic has demonstrated the global risks associated with uncontrolled infections and the various forms of impact that such a pandemic may have on the economy and on social habits besides the associated morbidity and mortality.
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