C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

Heterozygous missense or in-frame insertion/deletion mutations in complement 1 subunits C1r and C1s cause periodontal Ehlers-Danlos Syndrome (pEDS), a specific EDS subtype characterized by early severe periodontal destruction and connective tissue abnormalities like easy bruising, pretibial haemosid...

Full description

Bibliographic Details
Main Authors: Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Erik Björck, Di Milnes, Isabelle Bally, Veronique Rossi, Nicole Thielens, Heribert Stoiber, Christine Gaboriaud, Johannes Zschocke
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Immunology
Subjects:
complement system
connective tissue
periodontitis
C1r/s
Ehlers-Danlos syndrome
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.02537/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2019.02537/full

Similar Items