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Collagen VI

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https://www.readbyqxmd.com/read/28617417/a-cohort-of-17-patients-with-kyphoscoliotic-ehlers-danlos-syndrome-caused-by-biallelic-mutations-in-fkbp14-expansion-of-the-clinical-and-mutational-spectrum-and-description-of-the-natural-history
#1
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann, Marianne Rohrbach
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28604699/cmg2-antxr2-regulates-extracellular-collagen-vi-which-accumulates-in-hyaline-fibromatosis-syndrome
#2
Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl-Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, Paolo Bonaldo, F Gisou van der Goot
Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and severe painful joint contracture. Here we show that CMG2 is an important regulator of collagen VI homoeostasis. CMG2 loss of function promotes accumulation of collagen VI in patients, leading in particular to nodule formation. Similarly, collagen VI accumulates massively in uteri of Antxr2(-/-) mice, which do not display changes in collagen gene expression, and leads to progressive fibrosis and sterility...
June 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/28598382/syk-activity-is-dispensable-for-platelet-gp1b-ix-v-signaling
#3
Rachit Badolia, John C Kostyak, Carol Dangelmaier, Satya P Kunapuli
The binding of von Willebrand factor (VWF) to the platelet membrane glycoprotein 1b-IX (GP1b-IX) leads to activation of platelets. GP1b was shown to signal via the FcRγ-ITAM (Fc Receptor γ-Immunoreceptor tyrosine-based activation motif) pathway, activating spleen tyrosine kinase (Syk) and other tyrosine kinases. However, there have been conflicting reports regarding the role of Syk in GP1b signaling. In this study, we sought to resolve these conflicting reports and clarify the role of Syk in VWF-induced platelet activation...
June 9, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28598281/design-development-and-characterization-of-act017-a-humanized-fab-that-blocks-platelet-s-glycoprotein-vi-function-without-causing-bleeding-risks
#4
Kristell Lebozec, Martine Jandrot-Perrus, Gilles Avenard, Olivier Favre-Bulle, Philippe Billiald
Glycoprotein VI is a platelet-specific collagen receptor critical for in vivo formation of arterial thrombosis. It is also considered as an attractive target for the development of anti-thrombotic drugs because blocking glycoprotein (GP)VI inhibits platelet aggregation without inducing detrimental effects on physiological hemostasis. Here, we present data on the identification, in vitro and ex vivo pharmacology of a humanized Fab fragment designated as ACT017. ACT017 was selected out of 15 humanized variants based upon structural and functional properties...
June 9, 2017: MAbs
https://www.readbyqxmd.com/read/28596377/trowaglerix-venom-polypeptides-as-a-novel-antithrombotic-agent-by-targeting-immunoglobulin-like-domains-of-glycoprotein-vi-in-platelet
#5
Chien-Hsin Chang, Ching-Hu Chung, Yi-Shu Tu, Cheng-Chieh Tsai, Chun-Chieh Hsu, Hui-Chin Peng, Yufeng J Tseng, Tur-Fu Huang
OBJECTIVE: Currently prescribed antiplatelet drugs have 1 common side effect-an increased risk of hemorrhage and thrombocytopenia. On the contrary, bleeding defects associated with glycoprotein VI (GPVI) expression deficiency are usually slightly prolonged bleeding times. However, GPVI antagonists are lacking in clinic. APPROACH AND RESULTS: Using reverse-phase high-performance liquid chromatography and sequencing, we revealed the partial sequence of trowaglerix α subunit, a potent specific GPVI-targeting snaclec (snake venom C-type lectin protein)...
June 8, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28578892/proteome-expression-in-human-periodontal-ligament-after-delayed-hypothermic-preservation
#6
Sin-Yeon Cho, Junhee Park, Won-Yoon Chung, Euiseong Kim, Il-Young Jung, Seong-Ho Choi, Kwang-Kyun Park, Seung-Jong Lee
INTRODUCTION: Previous occasional successes after delayed replantation suggest that the presence of viable cells may not be the only factor for successful periodontal regeneration in delayed replantation. Various other factors such as proteins or the extracellular matrix (ECM) may play a role in this process. The purpose of this study was to characterize changes in the proteome components of periodontal ligament (PDL) tissue after hypothermic preservation of the tooth. METHODS: Extracted teeth were divided into 4 groups: immediate sampling, sampling after 1 week of preservation at 4°C, sampling after 2 weeks of preservation at 4°C, and sampling after 1 week of dry storage at room temperature as a negative control...
June 1, 2017: Journal of Endodontics
https://www.readbyqxmd.com/read/28578317/collagen-type-vi-related-myopathy
#7
EDITORIAL
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Jhonatan Rafael Siqueira Pinheiro, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
No abstract text is available yet for this article.
June 3, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28570710/pmrunt-regulated-by-pm-mir-183-participates-in-nacre-formation-possibly-through-promoting-the-expression-of-collagen-vi-like-and-nacrein-in-pearl-oyster-pinctada-martensii
#8
Zhe Zheng, Xiaodong Du, Xinwei Xiong, Yu Jiao, Yuewen Deng, Qingheng Wang, Ronglian Huang
Heterodimeric PEBP2/CBFs are key regulators in diverse biological processes, such as haematopoietic stem-cell generation, bone formation and cancers. In this work, we cloned runt-like transcriptional factor (designated as PmRunt) and CBF β (designated as PmCBF) gene, which comprise the heterodimeric transcriptional factor in Pinctada martensii. PmRunt was identified with an open reading frame that encodes 545 amino acids and has typical Runt domain. Phylogenetic analysis results speculated that runt-like transcriptional factors (RDs) in vertebrates and invertebrates are separated into two branches...
2017: PloS One
https://www.readbyqxmd.com/read/28569920/recombinant-gpvi-fc-added-to-single-or-dual-antiplatelet-therapy-in-vitro-prevents-plaque-induced-platelet-thrombus-formation
#9
Ann-Katrin Mojica Muñoz, Janina Jamasbi, Heidrun Degen, Götz Münch, Martin Ungerer, Richard Brandl, Remco Megens, Christian Weber, Reinhard Lorenz, Wolfgang Siess
The efficiency of current dual antiplatelet therapy might be further improved by its combination with a glycoprotein (GP) VI-targeting strategy without increasing bleeding. GPVI-Fc, a recombinant dimeric fusion protein binding to plaque collagen and concealing binding sites for platelet GPVI, acts as a lesion-focused antiplatelet drug, and does not increase bleeding in vivo. We investigated, whether GPVI-Fc added in vitro on top of acetylsalicylic acid (ASA), the P2Y12 antagonist ticagrelor, and the fibrinogen receptor antagonist abciximab alone or in combination would increase inhibition of platelet activation by atherosclerotic plaque...
June 1, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28541819/model-of-disc-degeneration-in-rat-tail-induced-through-a-vascular-isolation-of-vertebral-endplates
#10
Héctor Fernández-Susavila, Juan Pablo Pardo-Seco, Ramón Iglesias-Rey, Tomás Sobrino, Francisco Campos, Máximo Alberto Díez-Ulloa
Back pain is a major health problem. The degenerative cascade of the spine begins in the intervertebral disc, due to an impairment in the blood supply through the vertebral endplates. Our objective was to develop a novel disc degeneration model based on these premises, akin to the process in humans, in contrast to other proposed models (puncture, enzyme injection, aberrant loads,…) Material and methods: 37 Sprague-Dawley rats, 2 arms: (a) histological (n = 17, one died), en- bloc sections, Van Gieson staining, (Nisimura-Mochida criteria) and also collagen VI staining (tissue oxidative stress), four animals were euthanized every 2 weeks (2-8); and (b) imaging (n = 20, six wound sloughs), MRI 9...
May 25, 2017: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
https://www.readbyqxmd.com/read/28536721/differential-integrin-activity-mediated-by-platelet-collagen-receptor-engagement-under-flow-conditions
#11
Nicholas Pugh, Ben D Maddox, Dominique Bihan, Kirk A Taylor, Martyn P Mahaut-Smith, Richard W Farndale
The platelet receptors glycoprotein (Gp)VI, integrin α2β1 and GpIb/V/IX mediate platelet adhesion and activation during thrombogenesis. Increases of intracellular Ca(2+) ([Ca(2+)]i) are key signals during platelet activation; however, their relative importance in coupling different collagen receptors to functional responses under shear conditions remains unclear. To study shear-dependent, receptor-specific platelet responses, we used collagen or combinations of receptor-specific collagen-mimetic peptides as substrates for platelet adhesion and activation in whole human blood under arterial flow conditions and compared real-time and endpoint parameters of thrombus formation alongside [Ca(2+)]i measurements using confocal imaging...
May 24, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28523478/anti-gpvi-fab-sar264565-effectively-blocks-gpvi-function-in-ex-vivo-human-platelets-under-arterial-shear-in-a-perfusion-chamber
#12
Peter Florian, Peter Wonerow, Sebastian Harder, Karina Kuczka, Michel Dubar, Jochen Graff
INTRODUCTION: Glycoprotein VI (GPVI) is the major platelet receptor for collagen-mediated platelet adhesion and activation. SAR264565 is an anti-GPVI-Fab, binds to GPVI with high affinity, and blocks GPVI function in human platelets in vitro. METHODS: The effect of SAR26456 on platelet responsiveness in the blood of 21 healthy male subjects was investigated using Sakariassen's ex vivo thrombogenesis perfusion chamber model on a collagen-coated surface under conditions mimicking arterial flow...
May 18, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28481042/misbalance-in-type-iii-collagen-formation-degradation-as-a-novel-serological-biomarker-for-penetrating-montreal-b3-crohn-s-disease
#13
W T van Haaften, J H Mortensen, M A Karsdal, A C Bay-Jensen, G Dijkstra, P Olinga
BACKGROUND: Misbalances in extracellular matrix turnover are key factors in the development of stricturing (Montreal B2) and penetrating (Montreal B3) Crohn's disease. AIM: To determine whether serological markers for collagen formation and degradation could serve as biomarkers for complications of Crohn's disease. METHODS: Serum biomarkers for type I, III, V and VI collagen formation (P1NP, Pro-C3, Pro-C5, Pro-C6) and matrix metalloproteinase mediated degradation (C1M, C3M, C5M and C6M) were measured in a retrospective, single centre cohort of 112 patients with Crohn's disease in the terminal ileum (nonstricturing/nonpenetrating: n=40, stricturing: n=55, penetrating: n=17) and 24 healthy controls...
July 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28474537/physioxia-promotes-the-articular-chondrocyte-like-phenotype-in-human-chondroprogenitor-derived-self-organized-tissue
#14
Devon E Anderson, Brandon Markway, Kenneth J Weekes, Helen E McCarthy, Brian Johnstone
INTRODUCTION: Biomaterial-based tissue engineering has not successfully reproduced the structural architecture or functional mechanical properties of native articular cartilage. In scaffold-free tissue engineering systems, cells secrete and organize the entire extracellular matrix over time in response to environmental signals, such as oxygen level. In this study, we investigated the effect of oxygen on the formation of neocartilage from human-derived chondrogenic cells. METHODS: Articular chondrocytes (ACs) and articular cartilage progenitor cells (ACPs) derived from healthy human adults were guided toward cell condensation by centrifugation onto plate inserts that were uncoated or coated with either agarose or fibronectin...
May 5, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28450113/a-co-releasing-molecule-prevents-annexin-a2-down-regulation-and-associated-disorders-in-lps-administered-rat-lung
#15
Kana Unuma, Toshihiko Aki, Kanako Noritake, Takeshi Funakoshi, Koichi Uemura
To investigate septic lung injuries and the possible relief from injury by carbon monoxide (CO), rats were intraperitoneally (i.p.) administered water or the water-soluble CO-releasing molecule CORM (30 mg/kg body weight), followed by the successive administration of PBS or lipopolysaccharide (LPS, 15 mg/kg body weight, 6 h). The results in four experimental groups (control, LPS, LPS + CORM, CORM, n = 3 or 4 in each groups) were examined. Histological examination revealed the intravascular aggregation of erythrocytes in the lungs of the LPS group, and serological analysis showed a significant increase in D-dimer in the LPS group...
April 25, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28448563/corticosteroids-effects-on-lps-induced-rat-inflammatory-keratocyte-cell-model
#16
Huize Yan, Yingwei Wang, Shuhao Shen, Zheng Wu, Pengxia Wan
PURPOSE: Corticosteroids are efficient anti-inflammation treatments. However, there are still arguments on whether it should be used in keratitis. This study was to observe the effect of corticosteroids on keratocytes both in normal condition and inflammation status in vitro. METHODS: Rat keratocytes were cultured and used for examination. 10 μg/ml lipopolysaccharide (LPS) was used to establish the inflammatory keratocyte cell model, and prednisolone acetate (PA), dexamethasone (Dex) and fluorometholone (Flu) were used as corticosteroids treatments...
2017: PloS One
https://www.readbyqxmd.com/read/28444133/increased-collagen-within-the-transverse-tubules-in-human-heart-failure
#17
David J Crossman, Xin Shen, Mia Jüllig, Michelle Munro, Yufeng Hou, Martin Middleditch, Darshan Shrestha, Amy Li, Sean Lal, Cristobal G Dos Remedios, David Baddeley, Peter N Ruygrok, Christian Soeller
Aims: In heart failure transverse-tubule (t-tubule) remodelling disrupts calcium release, and contraction. T-tubules in human failing hearts exhibit increased labelling by wheat germ agglutinin (WGA), a lectin that binds to the dystrophin-associated glycoprotein complex. We hypothesized changes in this complex may explain the increased WGA labelling and contribute to t-tubule remodelling in the failing human heart. In this study we sought to identify the molecules responsible for this increased WGA labelling...
April 20, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28436002/characterization-of-the-chondrocyte-secretome-in-photoclickable-poly-ethylene-glycol-hydrogels
#18
Margaret C Schneider, Christopher A Barnes, Stephanie J Bryant
Poly(ethylene glycol) (PEG) hydrogels are highly tunable platforms that are promising cell delivery vehicles for chondrocytes and cartilage tissue engineering. In addition to characterizing the type of extracellular matrix (ECM) that forms, understanding the types of proteins that are secreted by encapsulated cells may be important. Thus, the objectives for this study were to characterize the secretome of chondrocytes encapsulated in PEG hydrogels and determine whether the secretome varies as a function of hydrogel stiffness and culture condition...
April 24, 2017: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/28430784/non-invasive-quantification-of-collagen-turnover-in-renal-transplant-recipients
#19
Elisabeth G D Stribos, Signe Holm Nielsen, Susanne Brix, Morten Asser Karsdal, Marc A Seelen, Harry van Goor, Stephan J L Bakker, Peter Olinga, Henricus A M Mutsaers, Federica Genovese
Kidney allograft failure due to chronic injury/rejection remains the main cause of graft loss in renal transplant recipients (RTR). Here, we investigated whether specific biomarkers of extracellular matrix (ECM) turnover are associated with allograft function and chronic kidney disease (CKD) stage in RTR. Seventy-eight patients who attended the University Medical Center Groningen for a routine check-up after kidney transplantation were enrolled in the study. Plasma and/or 24h-urine samples were collected and specific matrix-metalloproteinase-generated neo-epitope fragments of collagens were measured by enzyme-linked immunosorbent assay...
2017: PloS One
https://www.readbyqxmd.com/read/28424332/improving-genetic-diagnosis-in-mendelian-disease-with-transcriptome-sequencing
#20
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bönnemann, Daniel G MacArthur
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25 to 50%. We explore the utility of transcriptome sequencing [RNA sequencing (RNA-seq)] as a complementary diagnostic tool in a cohort of 50 patients with genetically undiagnosed rare muscle disorders. We describe an integrated approach to analyze patient muscle RNA-seq, leveraging an analysis framework focused on the detection of transcript-level changes that are unique to the patient compared to more than 180 control skeletal muscle samples...
April 19, 2017: Science Translational Medicine
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