Academic literature on the topic 'Variants du collagène'
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Journal articles on the topic "Variants du collagène":
Richards, Allan J., and Martin P. Snead. "Molecular Basis of Pathogenic Variants in the Fibrillar Collagens." Genes 13, no. 7 (July 4, 2022): 1199. http://dx.doi.org/10.3390/genes13071199.
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 (August 15, 1995): 1005–14. http://dx.doi.org/10.1083/jcb.130.4.1005.
Nishi, Akari, Hikaru Matsui, Azumi Hirata, Atsushi Mukaiyama, Shun-ichi Tanaka, Takuya Yoshizawa, Hiroyoshi Matsumura, Ryota Nomura, Kazuhiko Nakano, and Kazufumi Takano. "Structure, Stability and Binding Properties of Collagen-Binding Domains from Streptococcus mutans." Chemistry 5, no. 3 (September 1, 2023): 1911–20. http://dx.doi.org/10.3390/chemistry5030130.
Ritelli, Marco, Valeria Cinquina, Marina Venturini, Letizia Pezzaioli, Anna Formenti, Nicola Chiarelli, and Marina Colombi. "Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome." Genes 10, no. 2 (February 12, 2019): 135. http://dx.doi.org/10.3390/genes10020135.
Flood, Veronica H., Abraham C. Schlauderaff, Paula M. Jacobi, Tricia L. Slobodianuk, Robert R. Montgomery, Sandra L. Haberichter, and The Zimmerman Program Investigators. "VWF Interaction With Type IV Collagen Is Mediated Through Critical VWF A1 Domain Residues." Blood 122, no. 21 (November 15, 2013): 29. http://dx.doi.org/10.1182/blood.v122.21.29.29.
Shida, Yasuaki, Christine Brown, Jeff Mewburn, Kate Sponagle, Ozge Danisment, Barbara Vidal, Carol A. Heagadorn, and 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 (November 18, 2011): 3266. http://dx.doi.org/10.1182/blood.v118.21.3266.3266.
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 (February 2023): a006260. http://dx.doi.org/10.1101/mcs.a006260.
López-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 (April 16, 2022): 4410. http://dx.doi.org/10.3390/ijms23084410.
Zhytnik, 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 (February 24, 2022): 407. http://dx.doi.org/10.3390/genes13030407.
Micale, 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 (December 17, 2020): 1513. http://dx.doi.org/10.3390/genes11121513.
Dissertations / Theses on the topic "Variants du collagène":
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.
Recognition 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.
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.
Includes 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.
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.
Books on the topic "Variants du collagène":
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.
Book chapters on the topic "Variants du collagène":
Lima, Emerson, and Mariana Lima. "Fundamentals of the Dermal Tunneling (DT): A Subcision™ Variant." In Percutaneous Collagen Induction With Microneedling, 269–77. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-57541-0_25.
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.
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.
PAULSSON, MATS. "Laminin and Collagen IV Variants and Heterogeneity in Basement Membrane Composition." In Molecular and Cellular Aspects of Basement Membrane, 177–87. Elsevier, 1993. http://dx.doi.org/10.1016/b978-0-12-593165-6.50015-2.
Bhalla, Sanjeev. "Idiopathic Interstitial Pneumonias." In Chest Imaging, 449–51. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199858064.003.0077.
Bratton, Francesca. "‘Are you Futuristic or are you not?’: Adversarial Editing and European Avant-Gardes." In Visionary Company, 56–93. Edinburgh University Press, 2022. http://dx.doi.org/10.3366/edinburgh/9781474481519.003.0003.
Hakim, Alan J., and Rodney Grahame. "Hypermobility syndromes." In Oxford Textbook of Rheumatology, 1362–72. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0159_update_004.
Conference papers on the topic "Variants du collagène":
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.
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.
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.
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.
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.
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.
Proença, 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, and Edmar Zanoteli. "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.
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.
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.
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.