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Two different missense C1S mutations, associated to periodontal Ehlers-Danlos syndrome, lead to identical molecular outcomes

Archive ouverte | Bally, Isabelle | CCSD

International audience. Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous disorderscharacterized by soft connective tissue alteration like joint hypermobility and skinhyper-extensibility. We...

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Archive ouverte | Kapferer-Seebacher, Ines | CCSD

International audience. Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin f...

HMGB1 cleavage by complement C1s and its potent anti-inflammatory product

Archive ouverte | Lorvellec, Marie | CCSD

International audience. Complement C1s association with the pathogenesis of several diseases cannot be simply explained only by considering its main role in activating the classical complement pathway. This suggests...

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