Results 41 to 50 of about 5,097 (156)

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

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

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

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

Mass Spectrometry Structural Proteomics Enabled by Limited Proteolysis and Cross‐Linking

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The exploration of protein structure and function stands at the forefront of life science and represents an ever‐expanding focus in the development of proteomics. As mass spectrometry (MS) offers readout of protein conformational changes at both the protein and peptide levels, MS‐based structural proteomics is making significant strides in the
Haiyan Lu, Zexin Zhu, Lauren Fields, Hua Zhang, Lingjun Li   +4 more
wiley   +1 more source

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

An Open‐Label Phase 1b Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Clinical Activity of ANX005 in Patients with Huntington's Disease

Movement Disorders, EarlyView.
Complement activation is implicated in Huntington's disease; ANX005 is a potent inhibitor of component C1q. ANX005 exhibited a generally manageable safety profile with rapid reduction in C1q in the cerebrospinal fluid. Functional ability on composite Unified Huntington's Disease Rating Scale and total functional capacity was maintained, with potential ...
Rajeev Kumar, Pinky Agarwal, Karen Anderson, Daniel Claassen, Marissa Dean, Andrew Duker, Burton Scott, Benjamin Hoehn, Ann Mongan, Ping Lin, Ellen Cahir‐McFarland, Lori Taylor, Glenn Morrison, Ted Yednock, Sanjay Keswani, Henk‐Andre Kroon   +15 more
wiley   +1 more source

Numerically efficient mechanical modeling of reinforced concrete membrane elements with fixed, interlocked cracks

Structural Concrete, EarlyView.
Abstract Compression field approaches such as the Cracked Membrane Model with fixed, interlocked cracks (CMM‐F) are efficient tools for the mechanical modeling of reinforced concrete elements, providing the mechanical model σ=fε$$ \boldsymbol{\upsigma} =f\left(\boldsymbol{\upvarepsilon} \right) $$ required for finite element analyses.
Andreas Näsbom, Karel Thoma, Walter Kaufmann   +2 more
wiley   +1 more source

Phenotype-specific recombinant haptoglobin polymers co-expressed with C1r-like protein as optimized hemoglobin-binding therapeutics

BMC Biotechnology, 2018
Background Preclinical studies have evaluated haptoglobin (Hp) polymers from pooled human plasma as a therapeutic protein to attenuate toxic effects of cell-free hemoglobin (Hb).
Christian A. Schaer, Catherine Owczarek, Jeremy W. Deuel, Stefan Schauer, Jin Hyen Baek, Ayla Yalamanoglu, Matthew P. Hardy, Pierre D. Scotney, Peter M. Schmidt, Matthias Pelzing, Peter Soupourmas, Paul W. Buehler, Dominik J. Schaer   +12 more
doaj   +1 more source

Prohaptoglobin is proteolytically cleaved in the endoplasmic reticulum by the complement C1r-like protein [PDF]

Proceedings of the National Academy of Sciences, 2004
Many secretory proteins are synthesized as proforms that become biologically active through a proteolytic cleavage in the trans-Golgi complex or at a later stage in the secretory pathway. Haptoglobin (Hp) is unusual in that it is cleaved in the endoplasmic reticulum before it enters the Golgi.
Krzysztof B, Wicher, Erik, Fries
openaire   +2 more sources