These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Kapferer-Seebacher I; Pepin M; Werner R; Aitman TJ; Nordgren A; Stoiber H; Thielens N; Gaboriaud C; Amberger A; Schossig A; Gruber R; Giunta C; Bamshad M; Björck E; Chen C; Chitayat D; Dorschner M; Schmitt-Egenolf M; Hale CJ; Hanna D; Hennies HC; Heiss-Kisielewsky I; Lindstrand A; Lundberg P; Mitchell AL; Nickerson DA; Reinstein E; Rohrbach M; Romani N; Schmuth M; Silver R; Taylan F; Vandersteen A; Vandrovcova J; Weerakkody R; Yang M; Pope FM; ; Byers PH; Zschocke J Am J Hum Genet; 2016 Nov; 99(5):1005-1014. PubMed ID: 27745832 [TBL] [Abstract][Full Text] [Related]
4. Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome. Amberger A; Pertoll J; Traunfellner P; Kapferer-Seebacher I; Stoiber H; Klimaschewski L; Thielens N; Gaboriaud C; Zschocke J Front Immunol; 2023; 14():1157421. PubMed ID: 36960056 [TBL] [Abstract][Full Text] [Related]
5. Expression of recombinant human complement C1q allows identification of the C1r/C1s-binding sites. Bally I; Ancelet S; Moriscot C; Gonnet F; Mantovani A; Daniel R; Schoehn G; Arlaud GJ; Thielens NM Proc Natl Acad Sci U S A; 2013 May; 110(21):8650-5. PubMed ID: 23650384 [TBL] [Abstract][Full Text] [Related]
6. Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype. El Chehadeh S; Legrand A; Stoetzel C; Geoffroy V; Billon C; Adham S; Jeunemaître X; Jaussaud R; Muller J; Schaefer E; Benistan K; Gaertner S; Bloch-Zupan A; Courval A; Manière MC; Petit C; Bursztejn AC; Bal L; Reyre A; Chammas A; Busa T; Dollfus H; Lipsker D Clin Genet; 2021 Aug; 100(2):206-212. PubMed ID: 33890303 [TBL] [Abstract][Full Text] [Related]
7. A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R. Nakajima K; Suzuki H; Yamamoto M; Yamamoto T; Kawai T; Nakabayashi K; Hata K; Kosaki K; Nakajima H; Sano S; Kubo A J Dermatol; 2022 Jul; 49(7):714-718. PubMed ID: 35365885 [TBL] [Abstract][Full Text] [Related]
8. Structure and function of the serine-protease subcomponents of C1: protein engineering studies. Gál P; Závodszky P Immunobiology; 1998 Aug; 199(2):317-26. PubMed ID: 9777415 [TBL] [Abstract][Full Text] [Related]
10. The structure and function of the first component of complement: genetic engineering approach (a review). Gál P; Cseh S; Schumaker VN; Závodszky P Acta Microbiol Immunol Hung; 1994; 41(4):361-80. PubMed ID: 7866721 [TBL] [Abstract][Full Text] [Related]
11. Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy. Kapferer-Seebacher I; Waisfisz Q; Boesch S; Bronk M; van Tintelen P; Gizewski ER; Groebner R; Zschocke J; van der Knaap MS Neurogenetics; 2019 Mar; 20(1):1-8. PubMed ID: 30535813 [TBL] [Abstract][Full Text] [Related]
12. Classical complement pathway components C1r and C1s: purification from human serum and in recombinant form and functional characterization. Rossi V; Bally I; Lacroix M; Arlaud GJ; Thielens NM Methods Mol Biol; 2014; 1100():43-60. PubMed ID: 24218249 [TBL] [Abstract][Full Text] [Related]
13. Functional role of the linker between the complement control protein modules of complement protease C1s. Bally I; Rossi V; Thielens NM; Gaboriaud C; Arlaud GJ J Immunol; 2005 Oct; 175(7):4536-42. PubMed ID: 16177097 [TBL] [Abstract][Full Text] [Related]
14. Mapping surface accessibility of the C1r/C1s tetramer by chemical modification and mass spectrometry provides new insights into assembly of the human C1 complex. Brier S; Pflieger D; Le Mignon M; Bally I; Gaboriaud C; Arlaud GJ; Daniel R J Biol Chem; 2010 Oct; 285(42):32251-63. PubMed ID: 20592021 [TBL] [Abstract][Full Text] [Related]
15. Human complement C1r and C1s proteins and genes: studies with molecular probes. Tosi M; Journet A; Duponchel C; Couture-Tosi E; Meo T Behring Inst Mitt; 1989 Jul; (84):65-71. PubMed ID: 2572213 [TBL] [Abstract][Full Text] [Related]
16. Baculovirus-mediated expression of truncated modular fragments from the catalytic region of human complement serine protease C1s. Evidence for the involvement of both complement control protein modules in the recognition of the C4 protein substrate. Rossi V; Bally I; Thielens NM; Esser AF; Arlaud GJ J Biol Chem; 1998 Jan; 273(2):1232-9. PubMed ID: 9422791 [TBL] [Abstract][Full Text] [Related]
17. Recombinant human complement subcomponent C1s lacking beta-hydroxyasparagine, sialic acid, and one of its two carbohydrate chains still reassembles with C1q and C1r to form a functional C1 complex. Luo C; Thielens NM; Gagnon J; Gal P; Sarvari M; Tseng Y; Tosi M; Zavodszky P; Arlaud GJ; Schumaker VN Biochemistry; 1992 May; 31(17):4254-62. PubMed ID: 1533159 [TBL] [Abstract][Full Text] [Related]
18. Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome. Stock F; Hanisch M; Lechner S; Biskup S; Bohring A; Zschocke J; Kapferer-Seebacher I Biomolecules; 2021 Jan; 11(2):. PubMed ID: 33498938 [TBL] [Abstract][Full Text] [Related]
19. The N-terminal CUB-epidermal growth factor module pair of human complement protease C1r binds Ca2+ with high affinity and mediates Ca2+-dependent interaction with C1s. Thielens NM; Enrie K; Lacroix M; Jaquinod M; Hernandez JF; Esser AF; Arlaud GJ J Biol Chem; 1999 Apr; 274(14):9149-59. PubMed ID: 10092586 [TBL] [Abstract][Full Text] [Related]