Academic literature on the topic 'Collagen variants'
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Journal articles on the topic "Collagen variants"
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.
Full textKoch, 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.
Full textNishi, 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.
Full textFlood, 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.
Full textMikhail, 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.
Full textMicale, 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.
Full textShida, 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.
Full textLópez-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.
Full textZhytnik, 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.
Full textJäälinoja, 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.
Full textDissertations / Theses on the topic "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.
Full textElamaa, 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.
Full textCambier, 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.
Full textDumont, 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.
Full textDerlon-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.
Full textMajava, 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.
Full textDE, LAUDE Silvia Giovanna. "GIANFRANCO CONTINI ALFREDO SCHIAFFINI CARTEGGIO (1935-1971)." Doctoral thesis, 2014. http://hdl.handle.net/11562/565549.
Full textBooks on the topic "Collagen variants"
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.
Full textBook chapters on the topic "Collagen variants"
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.
Full textPAULSSON, 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.
Full textPerrier-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.
Full textMeng 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.
Full textBhalla, Sanjeev. "Idiopathic Interstitial Pneumonias." In Chest Imaging. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199858064.003.0077.
Full textRoot 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.
Full text"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.
Full textBratton, 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.
Full textHakim, 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.
Full textPaciupa, 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.
Full textConference papers on the topic "Collagen variants"
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.
Full textSeidel, 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.
Full textVasile, 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.
Full textZheng, 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.
Full textSadler, 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.
Full textKratzer, 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.
Full textMcGregor, 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.
Full textProença, 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.
Full textSimonsen, 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.
Full textYoder, 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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