A5103093381- Nuclear Structure and Function
- RNA Research and Splicing
- Structural Health Monitoring Techniques
- Genomics and Chromatin Dynamics
- Structural Engineering and Vibration Analysis
- Genomics and Phylogenetic Studies
- Advanced Proteomics Techniques and Applications
- Wind and Air Flow Studies
- Infrastructure Maintenance and Monitoring
- RNA modifications and cancer
- Physiological and biochemical adaptations
- Mitochondrial Function and Pathology
Université Libre de Bruxelles
2015-2021
Universidade do Porto
2013-2017
The interest in examining the subset of proteins present extracellular milieu, exoproteome, has been growing due to novel insights highlighting their role on matrix organization and biofilm formation, but also homeostasis development. cyanobacterial exoproteome is poorly studied, exoproteins cell wall biogenesis, morphology even physiology largely unknown. Here, we a comprehensive examination Anabaena sp. PCC 7120 under various growth conditions. Altogether, 139 belonging 16 different...
Considerable efforts have been made towards the development of robust and fully automated vibration-based monitoring systems with goal extracting relevant information regarding dynamic behaviour health condition monitored structure. Satisfactory results obtained in this scientific domain by combining accurate measurement output-only modal identification techniques. In context, main objective contribution is to demonstrate a full-scale case study that application sophisticated algorithms for...
Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, is of outmost importance normal cell function. Defects in process nucleocytoplasmic transport or its machinery have been frequently described human diseases, such cancer and neurodegenerative disorders, but only a few cases developmental disorders. Here we report biallelic mutations nucleoporin NUP88 novel cause lethal fetal akinesia deformation sequence (FADS) two families. FADS...
Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include a heterogeneous group of inherited diseases characterized by primary (congenital) microcephaly, the absence visceral abnormalities, variable degree cognitive impairment, short stature facial dysmorphism. Recently, biallelic variants in nuclear pore complex (NPC) component nucleoporin 85 gene (NUP85) were reported to cause steroid-resistant nephrotic (SRNS). Here, we report NUP85 two pedigrees...
Abstract Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, are of outmost importance normal cell function. Defects in process nucleocytoplasmic transport or its machinery have been frequently described human diseases, such cancer and neurodegenerative disorders, but only a few cases developmental disorders. Here we report biallelic mutations nucleoporin NUP88 novel cause lethal fetal akinesia deformation sequence (FADS) two families....