Results 61 to 70 of about 796,318 (197)

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Frontiers in Genetics, 2023
Introduction: Periodontal Ehlers-Danlos Syndrome (pEDS) is a rare autosomal dominant type of EDS characterised by severe early-onset periodontitis, lack of attached gingiva, pretibial plaques, joint hypermobility and skin hyperextensibility as per the ...
C. Angwin, C. Angwin, J. Zschocke, T. Kammin, E. Björck, J. Bowen, A. F. Brady, A. F. Brady, H. Burns, H. Burns, C. Cummings, R. Gardner, N. Ghali, N. Ghali, R. Gröbner, J. Harris, M. Higgins, D. Johnson, U. Lepperdinger, D. Milnes, F. M. Pope, F. M. Pope, R. Sehra, I. Kapferer-Seebacher, G. Sobey, F. S. Van Dijk, F. S. Van Dijk   +26 more
doaj   +1 more source

Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes

Frontiers in Immunology, 2019
Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous disorders characterized by soft connective tissue alteration like joint hypermobility and skin hyper-extensibility. We previously identified heterozygous missense mutations in the
Isabelle Bally, Fabien Dalonneau, Anne Chouquet, Rebekka Gröbner, Albert Amberger, Ines Kapferer-Seebacher, Heribert Stoiber, Johannes Zschocke, Nicole M. Thielens, Véronique Rossi, Christine Gaboriaud   +10 more
doaj   +1 more source

The serine protease domain of MASP-3: enzymatic properties and crystal structure in complex with ecotin. [PDF]

, 2013
International audienceMannan-binding lectin (MBL), ficolins and collectin-11 are known to associate with three homologous modular proteases, the MBL-Associated Serine Proteases (MASPs). The crystal structures of the catalytic domains of MASP-1 and MASP-2
A Sirmaci, AJ McCoy, AT Brunger, BC Lechtenberg, C Gaboriaud, C Gaboriaud, C Rooryck, Christine Gaboriaud, CL Cortesio, Claudio M. Soares, CM Stover, CT Eggers, D Heja, D Heja, D Iwaki, D Loew, E Di Cera, F Teillet, Florence Teillet, GJ Arlaud, GJ Arlaud, GN Murshudov, Gérard J. Arlaud, H Keshi, H Sekine, I Schechter, J Beattie, J Dobo, JA Huntington, JJ Perona, JJ Perona, JS Presanis, L Jin, Laurence Serre, Lydie Martin, M Budayova-Spano, M Budayova-Spano, M Lacroix, M Megyeri, M Megyeri, M Moller-Kristensen, M Takahashi, ME McGrath, MO Skjoedt, Monique Lacroix, MR Dahl, N Pozzi, Nicole M. Thielens, NM Thielens, P Emsley, P Roversi, R Sorensen, Rajesh Kumar Gupta, RM Dommett, RT Kidmose, S Hansen, S Zundel, SA Gillmor, SA Tsiftsoglou, SE Degn, SE Degn, SM Waugh, SQ Yang, SX Wang, SX Wang, TA Jones, V Harmat, V Rossi, V Rossi, Véronique Rossi, W Kabsch, W Niu, Y Endo   +72 more
core   +5 more sources

Reduced expression of innate immunity-related genes in lymph node metastases of luminal breast cancer patients

Scientific Reports, 2021
Immune system plays a dual role in cancer by either targeting or supporting neoplastic cells at various stages of disease, including metastasis. Yet, the exact immune-related transcriptome profiles of primary tumours (PT) and lymph node metastases (LNM ...
Marta Popeda, Aleksandra Markiewicz, Tomasz Stokowy, Jolanta Szade, Magdalena Niemira, Adam Kretowski, Natalia Bednarz-Knoll, Anna J. Zaczek   +7 more
doaj   +1 more source

Unique transcriptomic landscapes identified in idiopathic spontaneous and infection related preterm births compared to normal term births. [PDF]

, 2019
Preterm birth (PTB) is leading contributor to infant death in the United States and globally, yet the underlying mechanistic causes are not well understood.
Ackerman, William E, Brockway, Heather M, Buhimschi, Catalin S, Buhimschi, Irina A, Jones, Helen N, Kallapur, Suhas G, Muglia, Louis J   +6 more
core   +3 more sources

Multifunctional interaction of CihC/FbpC orthologs of relapsing fever spirochetes with host-derived proteins involved in adhesion, fibrinolysis, and complement evasion

Frontiers in Immunology
IntroductionRelapsing fever (RF) remains a neglected human disease that is caused by a number of diverse pathogenic Borrelia (B.) species. Characterized by high cell densities in human blood, relapsing fever spirochetes have developed plentiful ...
Ann-Sophie Damm, Flavia Reyer, Luisa Langhoff, Yi-Pin Lin, Franco Harald Falcone, Peter Kraiczy   +5 more
doaj   +1 more source

Complement C1q Interacts With LRP1 Clusters II and IV Through a Site Close but Different From the Binding Site of Its C1r and C1s-Associated Proteases

Frontiers in Immunology, 2020
LRP1 is a large endocytic modular receptor that plays a crucial role in the scavenging of apoptotic material through binding to pattern-recognition molecules.
Guillaume Fouët, E. Gout, C. Wicker-Planquart, I. Bally, Camilla De Nardis, S. Dedieu, A. Chouquet, C. Gaboriaud, N. Thielens, J. Kleman, V. Rossi   +10 more
semanticscholar   +1 more source

Weighted Hardy inequalities beyond Lipschitz domains [PDF]

, 2012
It is a well-known fact that in a Lipschitz domain \Omega\subset R^n a p-Hardy inequality, with weight d(x,\partial\Omega)^\beta, holds for all u\in C_0^\infty(\Omega) whenever ...
Lehrbäck, Juha
core   +1 more source

“Conformational dynamics of C1r inhibitor proteins from Lyme disease and relapsing fever spirochetes”

bioRxiv, 2023
Borrelial pathogens are vector-borne etiological agents of Lyme disease, relapsing fever, and Borrelia miyamotoi disease. These spirochetes each encode several surface-localized lipoproteins that bind to components of the human complement system.
Sourav Roy, C. E. Booth, Alexandra D. Powell-Pierce, A. Schulz, J. Skare, B. Garcia   +5 more
semanticscholar   +1 more source

C1r serine proteinase of human complement: A case of intramolecular autolytic activation

Bioscience Reports, 1985
This paper presents a short review of our contribution to the knowledge of the structure and function of human Clr, the activation unit of C1, the first component of the classical pathway of complement. On the basis of the domain structure of Clr, a model accounting for its autolytic activation mechanism is proposed. We suggest that this represents the
G J, Arlaud, M G, Colomb, C L, Villiers
openaire   +2 more sources