Littérature scientifique sur le sujet « Collagen variants »
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Articles de revues sur le sujet "Collagen variants"
Richards, Allan J., et Martin P. Snead. « Molecular Basis of Pathogenic Variants in the Fibrillar Collagens ». Genes 13, no 7 (4 juillet 2022) : 1199. http://dx.doi.org/10.3390/genes13071199.
Texte intégralKoch, M., B. Bohrmann, M. Matthison, C. Hagios, B. Trueb et M. Chiquet. « Large and small splice variants of collagen XII : differential expression and ligand binding. » Journal of Cell Biology 130, no 4 (15 août 1995) : 1005–14. http://dx.doi.org/10.1083/jcb.130.4.1005.
Texte intégralNishi, Akari, Hikaru Matsui, Azumi Hirata, Atsushi Mukaiyama, Shun-ichi Tanaka, Takuya Yoshizawa, Hiroyoshi Matsumura, Ryota Nomura, Kazuhiko Nakano et Kazufumi Takano. « Structure, Stability and Binding Properties of Collagen-Binding Domains from Streptococcus mutans ». Chemistry 5, no 3 (1 septembre 2023) : 1911–20. http://dx.doi.org/10.3390/chemistry5030130.
Texte intégralFlood, Veronica H., Abraham C. Schlauderaff, Paula M. Jacobi, Tricia L. Slobodianuk, Robert R. Montgomery, Sandra L. Haberichter et The Zimmerman Program Investigators. « VWF Interaction With Type IV Collagen Is Mediated Through Critical VWF A1 Domain Residues ». Blood 122, no 21 (15 novembre 2013) : 29. http://dx.doi.org/10.1182/blood.v122.21.29.29.
Texte intégralMikhail, Kristen A., Elizabeth VanSickle et 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 (février 2023) : a006260. http://dx.doi.org/10.1101/mcs.a006260.
Texte intégralMicale, Lucia, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana 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 (17 décembre 2020) : 1513. http://dx.doi.org/10.3390/genes11121513.
Texte intégralShida, Yasuaki, Christine Brown, Jeff Mewburn, Kate Sponagle, Ozge Danisment, Barbara Vidal, Carol A. Heagadorn et David Lillicrap. « 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 (18 novembre 2011) : 3266. http://dx.doi.org/10.1182/blood.v118.21.3266.3266.
Texte intégralLópez-Márquez, Arístides, Matías Morín, Sergio Fernández-Peñalver, Carmen Badosa, Alejandro Hernández-Delgado, Daniel Natera-de Benito, Carlos Ortez 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 (16 avril 2022) : 4410. http://dx.doi.org/10.3390/ijms23084410.
Texte intégralZhytnik, Lidiia, Binh Ho Duy, Marelise Eekhoff, Lisanne Wisse, Gerard Pals, Ene Reimann, Sulev Kõks et al. « Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant ». Genes 13, no 3 (24 février 2022) : 407. http://dx.doi.org/10.3390/genes13030407.
Texte intégralJäälinoja, Juha, Joni Ylöstalo, William Beckett, David J. S. Hulmes et Leena Ala-Kokko. « Trimerization of collagen IX α-chains does not require the presence of the COL1 and NC1 domains ». Biochemical Journal 409, no 2 (21 décembre 2007) : 545–54. http://dx.doi.org/10.1042/bj20070984.
Texte intégralThèses sur le sujet "Collagen variants"
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.
Texte intégralIncludes bibliographical references.
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 the COL11A2 rs1799907 (A/T) polymorphism are associated with ACL rupture risk. A secondary aim was to determine whether the COL11A1 and COL11A2 polymorphisms interact with COL5A1 rs71746744 (-/AGGG) to modulate ACL rupture risk (Chapter 3). iii) Determine whether the COL11A1 rs3753841 (T/C) and rs1676486 (C/T) and COL11A2 rs1799907 (A/T) polymorphisms are associated with AT risk, and investigate whether these polymorphisms interact with each other, or with the COL5A1 rs71746744 (-/AGGG) polymorphism to modulate the risk of developing AT (Chapter 4).
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.
Texte intégralCambier, 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.
Texte intégralIgAN is an autoimmune disease and its pathogenesis involves galactose deficient (Gd) IgA1, IgG anti-Gd-IgA1 autoantibodies and the soluble IgA Fc receptor (sCD89).Free and IgA1-complexed sCD89 are key players in mesangial proimeration through CD71 receptor. These findings reveal a new role for sCD89 in clgAN, making t a potentially useful biomarker and therapeutic target.sCD89-IgA1 complexes and free sCD89 correlate with proteinunia, es well as histological markers of disease activity: mesangial, endocapillary and extracapillary proliferation. These biomarkors could represent a useful approach to evaluate kidney injury without the need of repeated kidney biopsies Previous works have suggested that familial IgAN could be linked tochromosome s 2g36 region, which is also the coding region for COL4A3/A4.COL4A3 heterozygous variants seems to get a predisposition io senous IgAN presentation. COL4A3 variant at early stage of clgAN could represent a helptul tool to stratty the severity of cigAN beyond the Oxford classification
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.
Texte intégralRecognition of exposed vascular subendothelial collagen by the platelet receptor glycoprotein (GP)VI is a critical early step for platelet activation and subsequent thrombus formation. GPVI is a member of the immunoglobulin receptor family and expressed bound to its signaling subunit, the Fc receptor γ-chain (FcRγ). The two immunoglobulin-like domains (Dl, D2) contain structural elements important for collagen binding and receptor dimerisation respectively, and several functional motifs have been specifically identified in the cytoplasmic domain of GPVI. GPVI presents high homologies with the IgA receptor, FcαRI. To identify the respective role of Dl, D2 in the binding to collagen and the role of the intracellular functional motifs in the signal transmission, we have reconstituted recombinant receptors of GPVI and FcoRI or FcRy. We have shown that both Dl and D2 contribute to the binding to collagen, independently, which is an unusual mechanism in this receptor family. The absence of the intracellular specific GPVI domains leads to the increase of the receptor sensitivity to the cleavage by metalloproteinase and to a less efficiency of the receptor in the transmission of the signal induced by agonists. We also describe for the first time two genetic abnormalities in one patient. This 10 year-old girl presented ecchymoses since infancy. GPVI DNA sequencing revealed (i) 9 R38C mutation in exon 3 of one allele (ii) an insertion of 5 nucleotides in exon 4 of the other allele, leading to a premature nonsense codon and absence of the corresponding mRNA
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.
Texte intégralMajava, 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.
Texte intégralDE, LAUDE Silvia Giovanna. « GIANFRANCO CONTINI ALFREDO SCHIAFFINI CARTEGGIO (1935-1971) ». Doctoral thesis, 2014. http://hdl.handle.net/11562/565549.
Texte intégralThe exchange of letters between Gianfranco Contini and Alfredo Schiaffini is quite peculiar, even if compared with the many ones Contini had with Carlo Emilio Gadda, Eugenio Montale, Emilio Cecchi, Aldo Capitini, Luigi Russo, Giorgio Pasquali, Giuseppe De Luca and others, already published. It is the most considerable for its length and for the incredible number of letters: it lasts from 1935 to 1971 and involves two “colleagues”. Contini addresses his first letter to Schiaffinin on February 18th, 1935: he is only 23 y.o., he has just taken his degree in Romance Philology and obtained a scholarship to specialize with Joseph Bedier in Paris. Schiaffini is a 40 y. o. well known professor at Genova University, who lectures at Pisa Scuola Normale Superiore. Their complicity is immediate; they love each other and won’t interrupt their friendly relation up to Schiaffini’s death in 1971. Contini is soon going to become the undisputed ‘star’ of Italian Philology, revered and feared by friends and colleagues, author of admirable essays which turn his teaching upside down; the reference point of many contemporary writers (Montale, Gadda and Pasolini are only the best known). Schiaffini supports and backs up at once “critica delle varianti”, born under the impulse of Contini and in dispute with Benedetto Croce: this is one of the less known aspects these letters have drawn the attention on. In 1935 war is on. University libraries don’t buy foreign reviews and Contini sends Schiaffini otherwise unobtainable off prints he buys at Droz. During the war both Contini and Schiaffini lose books, papers and letters. Reconstruction sees them again side by side, engaged with different roles in a programme of rebuilding the national literary history planned by Riccardo Ricciardi. Since 1949 Schiaffini has been called by Mattioli, together with Piero Pancrazi, in the executive staff of “La letteratura italiana”. The aim is to establish a “canon” of the Italian Literature in 75 volumes for the ruling class of the future. Schiaffini writes about his new job to his dear friend Contini – even before its officialization, and gives him the task to edit the two volumes on Poeti del Duecento. These will be ready in 1961 and will change the way of publishing the texts of the origins of our lietrature. Soon after Schiaffini promotes “Documenti di filologia”: once again Contini is at his side to share the management. Forty years of Italian History – not only from an academic point of view, are reflected in the letters of two scholars who laid the foundations of the philological discipline in Italy.
Livres sur le sujet "Collagen variants"
Heidet, Laurence, Bertrand Knebelmann et Marie Claire Gubler. Alport syndrome. Sous la direction de Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0321.
Texte intégralChapitres de livres sur le sujet "Collagen variants"
Lima, Emerson, et Mariana Lima. « Fundamentals of the Dermal Tunneling (DT) : A Subcision™ Variant ». Dans Percutaneous Collagen Induction With Microneedling, 269–77. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57541-0_25.
Texte intégralPAULSSON, MATS. « Laminin and Collagen IV Variants and Heterogeneity in Basement Membrane Composition ». Dans Molecular and Cellular Aspects of Basement Membrane, 177–87. Elsevier, 1993. http://dx.doi.org/10.1016/b978-0-12-593165-6.50015-2.
Texte intégralPerrier-Groult, Emeline, Elisabeth Aubert-Foucher, Marielle Pasdeloup, Jérôme Lafont, Hugo Fabre et Frédéric Mallein-Gerin. « Flow Cytometry Analysis of Type IIB Procollagen as Quality Control of Chondrogenic Commitment of MSCs ». Dans Stem Cells and Regenerative Medicine. IOS Press, 2021. http://dx.doi.org/10.3233/bhr210008.
Texte intégralMeng Wang, Yu, et Calvin C.P. Pang. « Molecular Genetics of Keratoconus : Clinical Implications ». Dans Ocular Surface Diseases - Some Current Date on Tear Film Problem and Keratoconic Diagnosis. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.90623.
Texte intégralBhalla, Sanjeev. « Idiopathic Interstitial Pneumonias ». Dans Chest Imaging, 449–51. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199858064.003.0077.
Texte intégral« Textual Apparatus ». Dans James Boswell, sous la direction de James T. Boulton et T. O. McLaughlin, 233–37. Oxford University PressNew York, NY, 2006. http://dx.doi.org/10.1093/oso/9780195165838.003.0006.
Texte intégralBratton, Francesca. « ‘Are you Futuristic or are you not?’ : Adversarial Editing and European Avant-Gardes ». Dans Visionary Company, 56–93. Edinburgh University Press, 2022. http://dx.doi.org/10.3366/edinburgh/9781474481519.003.0003.
Texte intégralHakim, Alan J., et Rodney Grahame. « Hypermobility syndromes ». Dans Oxford Textbook of Rheumatology, 1362–72. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0159_update_004.
Texte intégralPaciupa, Jury. « Народный стих в русском стиховедении XVIII – начала XIX века : белорусская перспектива ». Dans Перспективы изучения фольклора. Взгляд из Эстонии и Беларуси. Миссия выполнима 3, 298–355. ELM Scholarly Press / Научное издательство ЭЛМ, 2022. http://dx.doi.org/10.7592/sator.2022.23.09.
Texte intégral« edition was set from the two-volume edition of words, we strictly refrained from standardizing or 1596, but both spelling and punctuation were con-normalizing punctuation as we did in editing other siderably modernized. Some substantive variants ‘accidentals’, for we believe that any attempt to between the 1596 and 1609 texts may have been due sweep out inconsistencies in these ‘accidentals’ in to Spenser’s marginal interpolations in the printer’s an old-spelling edition is historically inappropriate copy. We have chosen the Yamashita copy as the base and editorially interpolating. Observing this principle text and collated seven copies but have found few inevitably requires accepting what J.C. Smith 1909 press variants. deemed puzzling to the modern reader and rejected in his edition, such as absence of the comma after vocatives and occurrence of the comma between Editorial procedures ». Dans Spenser : The Faerie Queene, 46. Routledge, 2014. http://dx.doi.org/10.4324/9781315834696-44.
Texte intégralActes de conférences sur le sujet "Collagen variants"
Vladu, Alina, Emilia Visileanu, Alina Popescu et Roxana Rodica Constantinescu. « Antimicrobial treatments of undergarments designed for the combat-protective clothing of soldiers ». Dans AHFE 2023 Hawaii Edition. AHFE International, 2023. http://dx.doi.org/10.54941/ahfe1004210.
Texte intégralSeidel, MF, MP Junier et H. Vetter. « THU0028 Different variants of tnf-alpha mrna transcripts are expressed in rats with collagen-induced arthritis ». Dans 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.
Texte intégralVasile, Georgiana, Andreea Țigău, Alina Popescu, Rodica Roxana Constantinescu et Laura Chirilă. « Hydrogels-Based Textile Materials for Treatment of First-Degree Burn Injuries ». Dans 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.
Texte intégralZheng, Xiaoling, Hongxin Lin, Shuangmu Zhuo, Guangxing Wang et Ming Ni. « 3D measurement of collagen directional variance in ovarian cancer by multiphoton microscopy ». Dans Optics in Health Care and Biomedical Optics VIII, sous la direction de Qingming Luo, Xingde Li, Yuguo Tang et Ying Gu. SPIE, 2018. http://dx.doi.org/10.1117/12.2500841.
Texte intégralSadler, J. Evan. « THE MOLECULAR BIOLOGY OF VON WILLEBRAND FACTOR ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643930.
Texte intégralKratzer, MA A., et M. Knedel. « EVALUATION AND STANDARDISATION OF THE “IN VITRO” BLEEDING TIME TECHNIQUE ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644223.
Texte intégralMcGregor, J. L., L. McGregor, M. Hans, A. Sayegh, M. C. Trzeeiak et M. Dechavanne. « PLATELETS OF A PATIENT LACKING GLYCOPROTEINS lib AND Ilia AGGREGATE TO HIGH CONCENTRATIONS OF THROMBIN OR COLLAGEN ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643863.
Texte intégralProença, Bruna Moreira de Souza, Cristiane de Araújo Martins Moreno, Marco Antônio Veloso de Albuquerque, André Macedo Serafim da Silva, Clara Gontijo Camelo, Roberta Diniz de Almeida, Raquel Diógenes Alencar Sindeaux, Beatriz Carneiro Gondim Silva, Lucas Marenga Buarque et Edmar Zanoteli. « Ehlers-Danlos syndrome : an important differential diagnosis for congenital myopathies ». Dans XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.722.
Texte intégralSimonsen, T., Å. Vårtun, V. Lyngmo et 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 ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643806.
Texte intégralYoder, Jonathon H., Heath B. Henninger, Jeffrey A. Weiss et Dawn M. Elliott. « Annulus Fibrosus Shear Properties Are Consistent With Motion Segment Mechanics When Fibers Are Loaded ». Dans ASME 2009 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2009. http://dx.doi.org/10.1115/sbc2009-206833.
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