Academic literature on the topic 'Collagen variants'

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Journal articles on the topic "Collagen variants"

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Richards, Allan J., and Martin P. Snead. "Molecular Basis of Pathogenic Variants in the Fibrillar Collagens." Genes 13, no. 7 (2022): 1199. http://dx.doi.org/10.3390/genes13071199.

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The fibrillar collagen family is comprised of the quantitatively major types I, II and III collagens and the quantitatively minor types V and XI. These form heterotypic collagen fibrils (composed of more than a single collagen type) where the minor collagens have a regulatory role in controlling fibril formation and diameter. The structural pre-requisites for normal collagen biosynthesis and fibrillogenesis result in many places where this process can be disrupted, and consequently a wide variety of phenotypes result when pathogenic changes occur in these fibrillar collagen genes. Another cont
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Koch, M., B. Bohrmann, M. Matthison, C. Hagios, B. Trueb, and M. Chiquet. "Large and small splice variants of collagen XII: differential expression and ligand binding." Journal of Cell Biology 130, no. 4 (1995): 1005–14. http://dx.doi.org/10.1083/jcb.130.4.1005.

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Collagen XII has a short collagenous tail and a very large, three-armed NC3 domains consisting primarily of fibronectin type III repeats. Differential splicing within this domain gives rise to a large (320 kD) and a small (220 kD) subunit; the large but not the small can carry glycosaminoglycan. To investigate whether collagen XII variants have distinct expression patterns and functions, we generated antibody and cDNA probes specific for the alternatively spliced domain. We report here that the large variant has a more restricted expression in embryonic tissue than the small. For example, wher
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Nishi, Akari, Hikaru Matsui, Azumi Hirata, et al. "Structure, Stability and Binding Properties of Collagen-Binding Domains from Streptococcus mutans." Chemistry 5, no. 3 (2023): 1911–20. http://dx.doi.org/10.3390/chemistry5030130.

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Collagen-binding proteins (CBP), Cnm and Cbm, from Streptococcus mutans are involved in infective endocarditis caused by S. mutans because of their collagen-binding ability. In this study, we focused on the collagen-binding domain (CBD), which is responsible for the collagen-binding ability of CBP, and analyzed its structure, binding activity, and stability using CBD domain variants. The CBD consists of the N1 domain, linker, N2 domain, and latch (N1-N2~) as predicted from the amino acid sequences. The crystal structure of the Cnm/CBD was determined at a 1.81 Å resolution. N1_linker_N2 forms a
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Flood, Veronica H., Abraham C. Schlauderaff, Paula M. Jacobi, et al. "VWF Interaction With Type IV Collagen Is Mediated Through Critical VWF A1 Domain Residues." Blood 122, no. 21 (2013): 29. http://dx.doi.org/10.1182/blood.v122.21.29.29.

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Abstract Von Willebrand factor (VWF) plays a key role in coagulation by tethering platelets to injured subendothelium via binding sites for platelet glycoprotein Ib and collagen. The binding sites for types I and III collagen in the VWF A3 domain are well characterized, and defects in this region have been implicated in von Willebrand disease (VWD). Additional collagens present in the vasculature may also be involved in interactions with VWF. A VWF A1 sequence variation, p.R1399H, has been associated with decreased binding to type VI collagen, but the clinical significance of this observation
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Mikhail, Kristen A., Elizabeth VanSickle, and Linda Z. Rossetti. "Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant inP3H1—further expansion of the phenotypic spectrum." Molecular Case Studies 9, no. 1 (2023): a006260. http://dx.doi.org/10.1101/mcs.a006260.

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Osteogenesis imperfecta (OI) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. Autosomal recessive OI type VIII is associated with biallelic pathogenic variants inP3H1and classically characterized by skeletal anomalies in addition to significant bone fragility, sometimes presenting with in utero fractures and/or neonatal lethality.P3H1encodes a collagen prolyl hydroxylase that critically 3-hydroxylates proline residue 986 on the α chain of collagen types I and II to achieve proper folding and assembly of mature collagen and is present in a comp
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Micale, Lucia, Silvia Morlino, Annalisa Schirizzi, et al. "Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia." Genes 11, no. 12 (2020): 1513. http://dx.doi.org/10.3390/genes11121513.

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Stickler syndrome (SS) is a hereditary connective tissue disorder affecting bones, eyes, and hearing. Type 2 SS and the SS variant otospondylomegaepiphyseal dysplasia (OSMED) are caused by deleterious variants in COL11A1 and COL11A2, respectively. In both genes, available database information indicates a high rate of potentially deleterious intronic variants, but published evidence of their biological effect is usually insufficient for a definite clinical interpretation. We report four previously unpublished intronic variants in COL11A1 (c.2241 + 5G>T, c.2809 − 2A>G, c.3168 + 5G>C) an
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Shida, Yasuaki, Christine Brown, Jeff Mewburn, et al. "Comprehensive In Vitro and In Vivo Characterization of Loss and Gain-of-Function Von Willebrand Factor Collagen Binding Variants Using a Mouse Model System,." Blood 118, no. 21 (2011): 3266. http://dx.doi.org/10.1182/blood.v118.21.3266.3266.

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Abstract Abstract 3266 Von Willebrand Factor (VWF) is a large multimeric glycoprotein that mediates platelet adhesion to the damaged blood vessel wall and subsequent platelet aggregation at the site of injury. Rare mutations in the VWF A3 domain, that disrupt collagen binding, have been found in patients with a mild bleeding phenotype. However, the analysis of these aberrant VWF-collagen interactions has been relatively limited. Thus, in this study, we have developed mouse models of collagen binding mutants and analyzed the function of the A3 and A1 domains using comprehensive in vitro and in
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López-Márquez, Arístides, Matías Morín, Sergio Fernández-Peñalver, et al. "CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts." International Journal of Molecular Sciences 23, no. 8 (2022): 4410. http://dx.doi.org/10.3390/ijms23084410.

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Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly caused by dominant-negative pathogenic variants in the genes encoding α chains of collagen VI, a heteromeric network forming collagen; for example, the c.877G>A; p.Gly293Arg COL6A1 variant, which alters the proper association of the tetramers to form microfibrils. We tested the potential of CRISPR/Cas9-based genome editing to silence or correct (using a donor template) a mutant allele in the dermal fibroblasts of four individuals bearing t
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Zhytnik, Lidiia, Binh Ho Duy, Marelise Eekhoff, et al. "Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant." Genes 13, no. 3 (2022): 407. http://dx.doi.org/10.3390/genes13030407.

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Osteogenesis imperfecta (OI) is a syndromic disorder of bone fragility with high variation in its clinical presentation. Equally variable is molecular aetiology; recessive forms are caused by approximately 20 different genes, many of which are directly implicated in collagen type I biosynthesis. Biallelic variants in prolyl 3-hydroxylase 1 (P3H1) are known to cause severe OI by affecting the competence of the prolyl 3-hydroxylation—cartilage associated protein—peptidyl-prolyl cis-trans isomerase B (P3H1-CRTAP-CyPB) complex, which acts on the Pro986 residue of collagen type I α 1 (COL1A1) and P
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Jäälinoja, Juha, Joni Ylöstalo, William Beckett, David J. S. Hulmes та Leena Ala-Kokko. "Trimerization of collagen IX α-chains does not require the presence of the COL1 and NC1 domains". Biochemical Journal 409, № 2 (2007): 545–54. http://dx.doi.org/10.1042/bj20070984.

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Collagen IX is a heterotrimer of three α-chains, which consists of three COL domains (collagenous domains) (COL1–COL3) and four NC domains (non-collagenous domains) (NC1–NC4), numbered from the C-terminus. Although collagen IX chains have been shown to associate via their C-terminal NC1 domains and form a triple helix starting from the COL1 domain, it is not known whether chain association can occur at other sites and whether other collagenous and non-collagenous regions are involved. To address this question, we prepared five constructs, two long variants (beginning at the NC4 domain) and thr
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Dissertations / Theses on the topic "Collagen variants"

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Hay, Melanie. "An investigation of DNA sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries." Master's thesis, University of Cape Town, 2013. http://hdl.handle.net/11427/3242.

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Includes abstract.<br>Includes bibliographical references.<br>The aim of this dissertation was to use a case-control genetic study to investigate the association of polymorphisms within the COL5A1, MIR608, COL11A1 and COL11A2, genes with AT and/or ACL injuries in Caucasian populations. These aims were explored in three studies: i) Determine whether the COL5A1 rs71746744 (-/AGGG) and rs1134170 (A/T) polymorphisms and the MIR608 rs4919510 (C/G) polymorphism are associated with ACL rupture risk (Chapter 2). ii) Determine whether the COL11A1 rs3753841 (T/C) and rs1676486 (C/T) polymorphisms and th
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Elamaa, H. (Harri). "Type XVIII collagen:characterization of the primary structure and expression pattern of different variants in Xenopus laevis, characterization of the human gene structure and analysis of transgenic mice expressing endostatin." Doctoral thesis, University of Oulu, 2004. http://urn.fi/urn:isbn:9514275691.

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Abstract In this work the type XVIII collagen has been studied by using several approaches, such as different animal models. The primary structure of frog, Xenopus laevis, type XVIII collagen and the expression pattern of its variants during early embryogenesis have been elucidated. The gene structure of human type XVIII collagen was characterized and the localization and processing of its longest variant was studied by generated antibodies. In addition, the function of the proteolytically released C-terminal part of type XVIII collagen, endostatin, was studied by generating transgenic mice ex
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Cambier, Alexandra. "Une étude translationnelle de la néphropathie à IgA de l’enfant : des variants génétiques à la physiopathologie des biomarqueurs et leurs liens de causalité avec les lésions histologiques." Electronic Thesis or Diss., Sorbonne université, 2020. http://www.theses.fr/2020SORUS371.

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La N-IgA est une maladie auto-immune impliquant 3 biomarqueurs, les IgA1 hypogalactosylées (Gd)-lgA1,des auto-anticorps IgG anti-Gd-IgA1 et le récepteur soluble (s) CD89 IgA Fc lié à l'IgA (sCD89-IgA). Le sCD8 en circulation sous forme libre ou complexé aux IgA serait un acteur clé de la prolifération mésangiale suite à une interaction avec le récepteur CD71. Les complexes sCD89-IgA et le sCD89 libre étaient fortement liés à la protéinurie et aux lésions histologiques de prolifération in vivo et in vitro. Ces découvertes révèlent un nouveau rôle du sCD89 comme biomarqueur et comme potentielle
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Dumont, Bénédicte. "Caractérisation des domaines fonctionnels de la glycoprotéine VI plaquettaire à l'aide de variants recombinants et naturels." Paris 7, 2009. http://www.theses.fr/2009PA077099.

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L'interaction plaquettes-collagène est un événement clé de l'hémostase et du maintien de l'intégrité vasculaire. La glycoprotéine (GP)VI est le principal récepteur d'activation des plaquettes par le collagène et constitue une cible pour développer de nouvelles molécules antithrombotiques. Ce travail a eu pour but de caractériser les relations entre la structure de GPVI et sa fonction. GPVI appartient à la superfamille des Immunoglobulines et présente d'importantes homologies avec le récepteur des IgA, FcαRI. Ces deux récepteurs sont exprimés sous forme d'un complexe non covalent avec FcRγ, sou
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Derlon-Borel, Annie. "Caracterisation fonctionnelle et structurale du facteur willebrand dans differents variants de maladie de willebrand. Evaluation de la liaison du facteur willebrand au collagene par une methode elisa originale. Application a differents variants." Paris 7, 1994. http://www.theses.fr/1994PA077137.

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Trois grands types de maladie de willebrand (mdw) sont actuellement reconnus. Les types 1 et 3 correspondent aux deficits quantitatifs. Le type 2 regroupe les anomalies qualitatives avec de nombreux sous-types dont le type 2a caracterise par une diminution de l'affinite du facteur willebrand (vwf) pour les plaquettes et le type 2b qui a l'inverse presente une augmentation d'affinite pour la glycoproteine ib. Cette these rapporte ici les phanotypes et genotypes de differents variants dont 1 type 2a et un type 2b qui illustrent l'heterogeneite de l'expression phenotypique de la mdw et les multip
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Majava, M. (Marja). "Molecular genetics of Stickler and Marshall syndromes, and the role of collagen II and other candidate proteins in high myopia and impaired hearing." Doctoral thesis, University of Oulu, 2007. http://urn.fi/urn:isbn:9789514283628.

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Abstract Stickler and Marshall syndromes are genetic disorders both inherited in an autosomal dominant manner. The genotype-phenotype correlation was performed in ten Stickler/Marshall syndrome patients with mutations in the COL11A1 gene. Four patients had a phenotype classified as Marshall syndrome based on early-onset severe hearing loss and characteristic facial dysmorphism. A splice site mutation in intron 50 of COL11A1 was found in these patients, while the remaining six patients had an overlapping Marshall-Stickler phenotype with a mutation elsewhere in the gene. These results indicate e
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DE, LAUDE Silvia Giovanna. "GIANFRANCO CONTINI ALFREDO SCHIAFFINI CARTEGGIO (1935-1971)." Doctoral thesis, 2014. http://hdl.handle.net/11562/565549.

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Fra tutti i carteggi di Gianfranco Contini (e ne sono stati pubblicati ormai molti: con Carlo Emilio Gadda, Eugenio Montale, Emilio Cecchi, Aldo Capitini, Luigi Russo, Giorgio Pasquali, Giuseppe De Luca, ecc.), quello con Alfredo Schiaffini ha un posto particolare: è il più considerevole per numero di lettere e per durata cronologica (dal 1935 al 1971) con un “addetto ai lavori”, un collega. Quando Contini scrive a Schiaffini per la prima volta, ha ventitré anni. Si è appena laureato in Filologia Romanza all'Università di Pavia, e ha vinto una borsa di studio per perfezionarsi a Parigi, con Jo
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Books on the topic "Collagen variants"

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Heidet, Laurence, Bertrand Knebelmann, and Marie Claire Gubler. Alport syndrome. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0321.

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Alport syndrome is an inherited renal disorder characterized by early haematuria, progressing to proteinuria, sensorineural hearing loss, and progressive renal failure typically in the third or fourth decade but with wide variation. It is responsible for about 1% of end-stage renal failure. Over 80% of cases are X-linked and young men are most affected, but heterozygous carriers of the abnormal gene are also at significantly increased risk of end-stage renal failure in their lifetime. Those affected by the autosomal recessive variant are phenotypically very similar. It is caused by mutations i
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Book chapters on the topic "Collagen variants"

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Lima, Emerson, and Mariana Lima. "Fundamentals of the Dermal Tunneling (DT): A Subcision™ Variant." In Percutaneous Collagen Induction With Microneedling. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57541-0_25.

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PAULSSON, MATS. "Laminin and Collagen IV Variants and Heterogeneity in Basement Membrane Composition." In Molecular and Cellular Aspects of Basement Membrane. Elsevier, 1993. http://dx.doi.org/10.1016/b978-0-12-593165-6.50015-2.

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Perrier-Groult, Emeline, Elisabeth Aubert-Foucher, Marielle Pasdeloup, Jérôme Lafont, Hugo Fabre, and Frédéric Mallein-Gerin. "Flow Cytometry Analysis of Type IIB Procollagen as Quality Control of Chondrogenic Commitment of MSCs." In Stem Cells and Regenerative Medicine. IOS Press, 2021. http://dx.doi.org/10.3233/bhr210008.

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Type II collagen is the major collagen protein in cartilage, synthesized as precursor forms (procollagens). Several splice variants of the gene encoding type II procollagen have been identified such as IIA and IIB isoforms. Interestingly, a shift from IIA to IIB transcripts has been reported to occur during cartilage development and during chondrogenic differentiation of mesenchymal stem cells in vitro. Thus, type IIB procollagen represents a reliable marker of chondrocyte differentiation. We characterized previously the first antibody (referred as anti-pNIIB52) able to selectively detect the
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Meng Wang, Yu, and Calvin C.P. Pang. "Molecular Genetics of Keratoconus: Clinical Implications." In Ocular Surface Diseases - Some Current Date on Tear Film Problem and Keratoconic Diagnosis. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.90623.

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Occurrence of keratoconus is pan-ethnic with reported prevalence ranging widely from 1:400 to about 1:8000, higher in Asian than Western populations. Its genetics is complex with undefined pattern of inheritance. Familial traits are also known. More than 50 gene loci and 200 variants are associated with keratoconus, some through association studies with quantitative traits of cornea features including curvature and central thickness. Environmental, behavioral, and epigenetic factors are also involved in the etiology, likely interactively with genetic susceptibility. Regardless of sex and age o
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Bhalla, Sanjeev. "Idiopathic Interstitial Pneumonias." In Chest Imaging. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199858064.003.0077.

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The idiopathic interstitial pneumonias (IIPs) are a group of diffuse lung diseases that often manifest clinically with increasing dyspnea and hypoxemia. In the most recent revision of the American Thoracic Society/European Respiratory Society statement on IIPs, the major IIPs are divided into 3 groups: chronic fibrosing conditions (usual interstitial pneumonia and nonspecific interstitial pneumonia); smoking-related conditions (respiratory bronchiolitis and desquamative interstitial pneumonia) and acute/subacute IIPs (cryptogenic organizing pneumonia and acute interstitial pneumonia). Although
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Root Allen W. "Genetic Disorders of Calcium, Phosphorus, and Bone Homeostasis." In Metabolic Diseases. IOS Press, 2017. https://doi.org/10.3233/978-1-61499-718-4-813.

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In &amp;ldquo;Genetic Disorders of Calcium, Phosphorus, and Bone Homeostasis&amp;rdquo; the mechanisms that regulate calcium and phosphorus metabolism and bone formation, resorption, strength, and resilience are discussed. The physiologic function and roles of vitamin D metabolites, parathyroid hormone, calcitonin, and other factors (e.g., phosphatonins, receptor activator of nuclear factor kappa B ligand, osteoprotegerin, et cetera) are presented. The functional effects of osteoblasts, osteocytes, and osteoclasts upon bone matrix and hydroxyapatite and their roles in bone development and main
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"Textual Apparatus." In James Boswell, edited by James T. Boulton and T. O. McLaughlin. Oxford University PressNew York, NY, 2006. http://dx.doi.org/10.1093/oso/9780195165838.003.0006.

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Abstract The third edition (May 1769) of Corsica, extensively revised by Boswell and generally regarded as providing the most satisfactory text, has been chosen as the base-text; readings from it normally appear within square brackets with no symbol. Readings from the two texts with which it has been collated, the first edition (February 1768) and the second (April 1768), follow outside the square bracket, each with its defining symbol. When a reading from either the first or the second editions is preferred to the third, it appears with its source symbol within the square bracket. This is the
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Bratton, Francesca. "‘Are you Futuristic or are you not?’: Adversarial Editing and European Avant-Gardes." In Visionary Company. Edinburgh University Press, 2022. http://dx.doi.org/10.3366/edinburgh/9781474481519.003.0003.

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Chapter Two situates Crane within the European avant-garde of the 1920s, examining transatlantic connections between the U.S. and post-war Paris, Berlin, Vienna and Rome. This chapter discusses Crane’s debts to Dada and proto-Surrealist artistic experiments in his development of both his theories about the long poem and his playfully termed ‘the logic of metaphor’. The concept of ‘adversarial editing’ is coined to convey and explain the aesthetic identity of certain little magazines formed in agonistic opposition to other magazines. In these cases, disagreement and the deliberate pursuit of di
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Hakim, Alan J., and Rodney Grahame. "Hypermobility syndromes." In Oxford Textbook of Rheumatology. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0159_update_004.

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Hypermobility-related syndromes constitute a family of heritable disorders of connective tissue (HDCT) that derive from abnormalities affecting genes that encode for the connective tissue matrix proteins such as collagen, fibrillin, and tenascin. They range from such commonplace though poorly recognized conditions such as hypermobility spectrum disorder (HSD), formerly within the joint hypermobility syndrome (JHS), to the better-known, if rarer, eponymous syndromes such as the Marfan syndrome (MFS), Loeys–Dietz syndrome, and the different types of the Ehlers-Danlos syndrome (EDS). The more com
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Paciupa, Jury. "Народный стих в русском стиховедении XVIII – начала XIX века: белорусская перспектива". У Перспективы изучения фольклора. Взгляд из Эстонии и Беларуси. Миссия выполнима 3. ELM Scholarly Press / Научное издательство ЭЛМ, 2022. http://dx.doi.org/10.7592/sator.2022.23.09.

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The article traces how the theories of folk poetry were formed in poetry studies in the 18 th – early 19 th centuries, which had a direct or indirect impact on Belarusian poetry studies. As a starting point, ancient ideas about poetry as hierarchy of levels: accent-syllabic, where syllables are united in feet, and intonational-phrasal, where colons are organised in periods, are studied. On this background individual judgments and treatises of V. K. Trediakovsky, who was the first to implement antic metrics for Russian folklore interpretation, of N. A. Lvov, who proposed the metrics of wider sc
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Conference papers on the topic "Collagen variants"

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Vladu, Alina, Emilia Visileanu, Alina Popescu, and Roxana Rodica Constantinescu. "Antimicrobial treatments of undergarments designed for the combat-protective clothing of soldiers." In AHFE 2023 Hawaii Edition. AHFE International, 2023. http://dx.doi.org/10.54941/ahfe1004210.

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Military forces around the world must be equipped with combat-protective clothing made from the best technical textiles available that must provide sufficient protection, increased comfort, and even antimicrobial protection, especially for underwear pieces. Antibacterial treatments for textile materials include the use of various substances such as chitosan, silver, collagen and so on. Chitosan is a polysaccharide that promotes changes in the permeability properties of the membrane wall causing internal osmotic imbalances and consequently inhibits the growth of microorganisms. Silver can also
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Seidel, MF, MP Junier, and H. Vetter. "THU0028 Different variants of tnf-alpha mrna transcripts are expressed in rats with collagen-induced arthritis." In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.825.

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Vasile, Georgiana, Andreea Țigău, Alina Popescu, Rodica Roxana Constantinescu, and Laura Chirilă. "Hydrogels-Based Textile Materials for Treatment of First-Degree Burn Injuries." In The 9th International Conference on Advanced Materials and Systems. INCDTP - Leather and Footwear Research Institute (ICPI), Bucharest, Romania, 2022. http://dx.doi.org/10.24264/icams-2022.ii.28.

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Hydrogels based on collagen and xanthan have found various applications as drug delivery carriers. The main strategy is to combine the traditional perspective of using essential oils with polymeric hydrogels in order to develop a potential dressing that provides wound healing for first-degree burn injuries. In this regard, the present study is aimed to develop textile materials with potential for use in the treatment of first-degree burn injuries by approaching the hydrogels based on xanthan gum and collagen as polymeric matrix loaded with essential oils (cinnamon essential oil, tea tree essen
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Zheng, Xiaoling, Hongxin Lin, Shuangmu Zhuo, Guangxing Wang, and Ming Ni. "3D measurement of collagen directional variance in ovarian cancer by multiphoton microscopy." In Optics in Health Care and Biomedical Optics VIII, edited by Qingming Luo, Xingde Li, Yuguo Tang, and Ying Gu. SPIE, 2018. http://dx.doi.org/10.1117/12.2500841.

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Sadler, J. Evan. "THE MOLECULAR BIOLOGY OF VON WILLEBRAND FACTOR." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643930.

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Human von Willebrand factor (vWF) is a plasma glycoprotein that is synthesized by endothelial cells and megakaryocytes, and perhaps by syncytiotrophoblast of placenta. The biosynthesis of vWF is very complex, involving proteolytic processing, glycosyla-tion, disulfide bond formation, and sulfation. Mature vWF consists of a single subunit of ∼ 250,000 daltons that is assembled into multimer ranging from dimers to species of over 10 million daltons. vWF performs its essential hemostatic function through several binding interactions, forming a bridge between specific receptors on the platelet sur
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Kratzer, MA A., and M. Knedel. "EVALUATION AND STANDARDISATION OF THE “IN VITRO” BLEEDING TIME TECHNIQUE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644223.

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Recently a model of primary hemostasis has been introduced (Kratzer &amp; Bom, Haemostasis 15:357;1985). This in vitro method detects very sensitively pathological platelet functions (Kratzer, Bellucci &amp; Caen, Haemostasis 15:363; 1985). In order to use this technique routinely in the hospital the instrument now called “Thrombostat 4000” has been completely computerized and standardized by Kratzer and von der Goltz, VDG (8221 Seeon, West Germany).An artificial vessel (Aperture: cellulose acetate coated with collagen typ I, 2.2 ug/ mm2) with a single 150 urn hole; capillary: teflon, 200 urn,
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McGregor, J. L., L. McGregor, M. Hans, A. Sayegh, M. C. Trzeeiak, and M. Dechavanne. "PLATELETS OF A PATIENT LACKING GLYCOPROTEINS lib AND Ilia AGGREGATE TO HIGH CONCENTRATIONS OF THROMBIN OR COLLAGEN." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643863.

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The aim of this study was to investigate the platelets of a patient having bleeding episodes that began in infancy. The patient’s platelets in citrated-PRP did not aggregate when stimulated with ADP (5 and 10 uM), collagen (2.5 ug/ml), or sodium arachidonate (1 uM). However, washed patient platelets, in the presence of 2mM calcium, aggregated and secreted when stimulated with high concentrations of thrombin (0.36, 0.72 and lU/ml) or collagen (2, 4, 10 ug/ml). Monoclonal antibodies (Mab) LYP18 (directed against the IIb-IIIa glycoprotein complex) and LYP8 (anti-thrombospondin) inhibited thrombin
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Proença, Bruna Moreira de Souza, Cristiane de Araújo Martins Moreno, Marco Antônio Veloso de Albuquerque, et al. "Ehlers-Danlos syndrome: an important differential diagnosis for congenital myopathies." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.722.

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Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a genetic collagen disorder, with early onset hypotonia, weakness, progressive kyphoscoliosis, joint hypermobility, and other features underlying connective tissue involvement. On the other hand, congenital myopathies (CMs) are genetic muscle disorders, with hypotonia and weakness usually from birth which can associate with skeletal deformities. Case 1: RSS, 2-year-old, male. At birth, hip dysplasia and global hypotonia. On examination, proximal tetraparesis, global hyporeflexia and hypotonia, joint hypermobility, ogival palate, umbilical hernia,
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Simonsen, T., Å. Vårtun, V. Lyngmo, and A. Nordθy. "CORNARY HEART DISEASE, DIET, SERUM LIPIDS, PLATELET FUNCTION AND PLATELET FATTY ACIDS IN TWO POPULATIONS WITH A HIGH AND A LOW INTAKE OF DIETARY FISH." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643806.

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In the coastal areas of Northern Norway the intake of fish is by tradition high whereas in the inland area it is low. We have examined the mortality of CHD in the period 1975-84 in a coastal community (C) and an inland community (I). In addition we have examined 30 healthy male subjects aged 30-year, selected by random in the two communities. The examination included a dietary survey based on registration and weighing of all dietary items for one week, blood pressure, serum lipids, primary bleeding time, platelet aggregation induced by collagen and fatty acid composition of platelet total phos
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Yoder, Jonathon H., Heath B. Henninger, Jeffrey A. Weiss, and Dawn M. Elliott. "Annulus Fibrosus Shear Properties Are Consistent With Motion Segment Mechanics When Fibers Are Loaded." In ASME 2009 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2009. http://dx.doi.org/10.1115/sbc2009-206833.

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The annulus fibrosus (AF) is a highly organized structure made up of concentric lamellae of fibers embedded in a hydrated extrafibrillar matrix; the collagen fibers are oriented at alternating angles in each lamella. The AF undergoes multidirectional loading through combinations of compression, bending, torsion and shear of the motion segment. The composition and structure of the AF leads to mechanical stress-strain nonlinearity and anisotropy. Previous tissue-based studies of shear have tested the AF tissue under compressive simple shear and torsion, producing shear modulus on the order of 0.
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