Papers SASC
Thyroid hormone signalling in Osteoarthritis: early life events in late life disease
Niels Bömer | 17-01-2017 | Thyroid hormone signalling in Osteoarthritis: early life events in late life disease The lifespan of an organism is determined by a complex network of environmental-, genetic- and stochastic factors. Each of these components contributes to the In the field of Osteoarthritis [...]
Algorithms for the Description of Molecular Sequences
Jonathan Vis | 21-12-2016 | Algorithms for the Description of Molecular Sequences Unambiguous sequence variant descriptions are important in reporting the outcome of clinical diagnostic DNA tests. The standard nomenclature of the Human Genome Variation Society (HGVS) describes the observed variant sequence relative to a given reference [...]
Interactions of cognitive and physical ageing
Marjon Stijntjes | 12-10-2016 |A Study into Genes Encoding Longevity in Humans Human ageing is characterized by a gradual decline in cognitive and physical performance strongly determining someone’s functional abilities and quality of life. In this thesis, insights into these age-related changes and most [...]
Genetics and epigenetics of repeat derepression in human disease
Peter Thijssen| 01-09-2016 | Genetics and epigenetics of repeat derepression in human disease A large part of the human genome consists of repetitive DNA. In this thesis two human diseases have been studied in which deregulation of repetitive DNA is a central feature: facioscapulohumeral [...]
Osteoarthritis, a degenerative disease of the articular joints : towards the implementation of functional genomics in OA
Yolande Ramos | 26-05-2015 | Osteoarthritis, a degenerative disease of the articular joints : towards the implementation of functional genomics in OA Osteoarthritis (OA) is an age related disorder of the joints characterized by pain, crepitus, and stiffness resulting in decreased mobility. Pathophysiology consists [...]
(Epi) genetics and twins
Jenny van Dongen | 16-04-2015 | (Epi)genetics and twins The research described in this thesis was characterized by two major themes: the first was related to the question to which extent variation between individuals in inflammation biomarkers and metabolic syndrome traits are caused by [...]