Статті в журналах з теми "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 (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.
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.
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.
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.
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.
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.
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 (21 грудня 2007): 545–54. http://dx.doi.org/10.1042/bj20070984.
Nixon, Thomas R. W., Allan J. Richards, Howard Martin, Philip Alexander, and Martin P. Snead. "Autosomal Recessive Stickler Syndrome." Genes 13, no. 7 (June 24, 2022): 1135. http://dx.doi.org/10.3390/genes13071135.
Hayashi, Kaichi, Takeaki Ikeuchi, Ryo Morishita, Jun Qian, Kenji Kojima, Teisuke Takita, Keisuke Tanaka, Shunji Hattori, and Kiyoshi Yasukawa. "The roles of histidine and tyrosine residues in the active site of collagenase in Grimontia hollisae." Journal of Biochemistry 168, no. 4 (May 9, 2020): 385–92. http://dx.doi.org/10.1093/jb/mvaa055.
Castroflorio, Enrico, Ana Joaquina Pérez Berná, Arístides López-Márquez, Carmen Badosa, Pablo Loza-Alvarez, Mónica Roldán, and Cecilia Jiménez-Mallebrera. "The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy." International Journal of Molecular Sciences 23, no. 14 (July 11, 2022): 7651. http://dx.doi.org/10.3390/ijms23147651.
Padmanabha, Hansashree, Gautham Arunachal, Pratik Kishore, P. Praveen Sharma, Pooja Mailankody, Rohan R. Mahale, Saraswati Nashi, PS Mathuranath, and Sadanandavalli R. Chandra. "Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy." Neurology India 71, no. 6 (2023): 1257–59. http://dx.doi.org/10.4103/0028-3886.391402.
Bauer, Anina, John F. Bateman, Shireen R. Lamandé, Eric Hanssen, Shannon G. M. Kirejczyk, Mark Yee, Ali Ramiche, et al. "Identification of Two Independent COL5A1 Variants in Dogs with Ehlers–Danlos Syndrome." Genes 10, no. 10 (September 21, 2019): 731. http://dx.doi.org/10.3390/genes10100731.
Tohar, Ran, Tamar Ansbacher, Inbal Sher, Livnat Afriat-Jurnou, Evgeny Weinberg, and Maayan Gal. "Screening Collagenase Activity in Bacterial Lysate for Directed Enzyme Applications." International Journal of Molecular Sciences 22, no. 16 (August 9, 2021): 8552. http://dx.doi.org/10.3390/ijms22168552.
Haberichter, Sandra L., David A. Jakab, and Paula M. Jacobi. "Upstream Mechanisms Causing Type 1C Von Willebrand Disease (VWD): Contribution Of Defective Von Willebrand Factor (VWF) Multimerization, Regulated Storage, and Secretion." Blood 122, no. 21 (November 15, 2013): 3571. http://dx.doi.org/10.1182/blood.v122.21.3571.3571.
Zekavat, Seyedeh Maryam, Elizabeth L. Chou, Melica Zekavat, Akhil Pampana, Kaavya Paruchuri, Christian Lacks Lino Cardenas, Satoshi Koyama, et al. "Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection." JAMA Cardiology 7, no. 4 (April 1, 2022): 396. http://dx.doi.org/10.1001/jamacardio.2022.0001.
Marinella, Gemma, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, et al. "A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing." International Journal of Molecular Sciences 23, no. 23 (November 23, 2022): 14567. http://dx.doi.org/10.3390/ijms232314567.
Kiener, Sarah, Heather Troyer, Daniel Ruvolo, Paula Grest, Sara Soto, Anna Letko, Vidhya Jagannathan, et al. "Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa." Genes 14, no. 10 (September 22, 2023): 1835. http://dx.doi.org/10.3390/genes14101835.
Selvam, Pavalan, Shekhar Singh, Angita Jain, Herjot Atwal, and Paldeep S. Atwal. "Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature." Journal of Pediatric Genetics 09, no. 02 (October 16, 2019): 117–20. http://dx.doi.org/10.1055/s-0039-1698446.
Kiener, Sarah, Neoklis Apostolopoulos, Jennifer Schissler, Pascal-Kolja Hass, Fabienne Leuthard, Vidhya Jagannathan, Carole Schuppisser, et al. "Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome." Genes 13, no. 5 (April 29, 2022): 797. http://dx.doi.org/10.3390/genes13050797.
O'Connell, Kevin, Michael Posthumus, and Malcolm Collins. "Collagen gene interactions and endurance running performance." South African Journal of Sports Medicine 26, no. 1 (March 20, 2014): 9. http://dx.doi.org/10.17159/2413-3108/2014/v26i1a404.
Brown, J. C., K. Mann, H. Wiedemann, and R. Timpl. "Structure and binding properties of collagen type XIV isolated from human placenta." Journal of Cell Biology 120, no. 2 (January 15, 1993): 557–67. http://dx.doi.org/10.1083/jcb.120.2.557.
Bruni, Valentina, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, and Rodolfo Iuliano. "A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions." Genes 12, no. 9 (September 10, 2021): 1395. http://dx.doi.org/10.3390/genes12091395.
Shulman, Cole, Emerald Liang, Misato Kamura, Khalil Udwan, Tony Yao, Daniel Cattran, Heather Reich, et al. "Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants." Kidney Medicine 3, no. 2 (March 2021): 257–66. http://dx.doi.org/10.1016/j.xkme.2020.12.007.
Powell, Janet T., Jane Adamson, Shane T. R. MacSweeney, Roger M. Greenhalgh, Steven E. Humphries, and Adriano Henney. "Genetic variants of collagen III and abdominal aortic aneurysm." European Journal of Vascular Surgery 5, no. 2 (April 1991): 145–48. http://dx.doi.org/10.1016/s0950-821x(05)80679-6.
Sykes, B., D. Ogilvie, P. Wordsworth, and R. Smith. "Polymorphic variants of the human type II collagen gene." Bone 7, no. 2 (January 1986): 150. http://dx.doi.org/10.1016/8756-3282(86)90705-2.
Dada, Suhail, Marilize C. Burger, Franka Massij, Hanli de Wet, and Malcolm Collins. "Carpal tunnel syndrome: The role of collagen gene variants." Gene 587, no. 1 (August 2016): 53–58. http://dx.doi.org/10.1016/j.gene.2016.04.030.
Lanktree, Matthew B., Amirreza Haghighi, Saima Khowaja, Ioan-Andrei Iliuta, Andrew Paterson, and York P. Pei. "Type IV Collagen Variants in Patients With Polycystic Kidneys." Journal of the American Society of Nephrology 33, no. 11S (November 2022): 152. http://dx.doi.org/10.1681/asn.20223311s1152a.
Shulman, Cole, Emerald Liang, Misato Kamura, Khalil Udwan, Tony Yao, Daniel C. Cattran, Heather N. Reich, et al. "In Silico Prediction Performance for Type IV Collagen Variants." Journal of the American Society of Nephrology 31, no. 10S (October 2020): 526–27. http://dx.doi.org/10.1681/asn.20203110s1526d.
Graves, Lara E., Christie-Lee Wall, Julie N. Briody, Bruce Bennetts, Karen Wong, Ella Onikul, Andrew Biggin, and Craig F. Munns. "High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2." Hormone Research in Paediatrics 93, no. 4 (2020): 263–71. http://dx.doi.org/10.1159/000510463.
Tang, Man-Hung Eric, Joseph P. M. Blair, Cecilie Liv Bager, Anne-Christine Bay-Jensen, Kim Henriksen, Claus Christiansen, and Morten Asser Karsdal. "Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementia." Neurology Genetics 6, no. 5 (September 10, 2020): e508. http://dx.doi.org/10.1212/nxg.0000000000000508.
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.
Sivapalaratnam, Suthesh, Hayman Melissa, Claire Lentaigne, Melissa Chan, Marilena Crescente, Harriet Allan, Katherine Wedderburn, et al. "Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1." Blood 132, Supplement 1 (November 29, 2018): 1156. http://dx.doi.org/10.1182/blood-2018-99-118958.
Abdulla, Farah, Heather Peck, Ashley Feneran, Ashley Jenkins, and Katherine Mullersman. "Distinguishing a Rare Variant of Lipidized Dermatofibroma from Nonlipidized Dermatofibromas in a Patient with Hypothyroidism and Alopecia Areata." Serbian Journal of Dermatology and Venereology 9, no. 2 (June 27, 2017): 53–56. http://dx.doi.org/10.1515/sjdv-2017-0008.
Savige, Judy, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, et al. "Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria." European Journal of Human Genetics 29, no. 8 (April 15, 2021): 1186–97. http://dx.doi.org/10.1038/s41431-021-00858-1.
Barbeau, Susie, Fannie Semprez, Alexandre Dobbertin, Laurine Merriadec, Florine Roussange, Bruno Eymard, Damien Sternberg, et al. "Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ." International Journal of Molecular Sciences 24, no. 22 (November 11, 2023): 16217. http://dx.doi.org/10.3390/ijms242216217.
Chiarelli, Ritelli, Zoppi, and Colombi. "Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes." Genes 10, no. 8 (August 12, 2019): 609. http://dx.doi.org/10.3390/genes10080609.
Hoyer, M., N. Drechsel, M. Meyer, C. Meier, C. Hinüber, A. Breier, J. Hahner, et al. "Embroidered polymer–collagen hybrid scaffold variants for ligament tissue engineering." Materials Science and Engineering: C 43 (October 2014): 290–99. http://dx.doi.org/10.1016/j.msec.2014.07.010.
Villar-Quiles, Rocío N., Sandra Donkervoort, Alix de Becdelièvre, Corine Gartioux, Valérie Jobic, A. Reghan Foley, Riley M. McCarty, et al. "Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies." Journal of Neuromuscular Diseases 8, no. 4 (July 30, 2021): 633–45. http://dx.doi.org/10.3233/jnd-200577.
Aksenova, M. E., P. E. Povilaitite, N. E. Konkova, and V. V. Dlin. "Diagnostic Value of Type IV Collagen Expression in Renal Glomeruli at Alport’s Syndrome." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 6 (January 22, 2021): 42–49. http://dx.doi.org/10.21508/1027-4065-2020-65-6-42-49.
Nowak, Agata A., Kevin Canis, Anne Riddell, Michael A. Laffan, and Thomas A. J. McKinnon. "O-linked glycosylation of von Willebrand factor modulates the interaction with platelet receptor glycoprotein Ib under static and shear stress conditions." Blood 120, no. 1 (July 5, 2012): 214–22. http://dx.doi.org/10.1182/blood-2012-02-410050.
Angwin, Chloe, Angela F. Brady, Marina Colombi, David J. P. Ferguson, Rebecca Pollitt, F. Michael Pope, Marco Ritelli, Sofie Symoens, Neeti Ghali, and Fleur S. van Dijk. "Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients." Genes 10, no. 10 (September 27, 2019): 762. http://dx.doi.org/10.3390/genes10100762.
Deltas, Constantinos, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear, et al. "Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice." Genes 14, no. 9 (August 25, 2023): 1686. http://dx.doi.org/10.3390/genes14091686.
Tešanović Perković, Deša, Zrinka Bukvić Mokos, and Branka Marinović. "Epidermolysis Bullosa Acquisita—Current and Emerging Treatments." Journal of Clinical Medicine 12, no. 3 (February 1, 2023): 1139. http://dx.doi.org/10.3390/jcm12031139.
Miyamoto-Mikami, Eri, Hiroshi Kumagai, Naoki Kikuchi, Nobuhiro Kamiya, Naokazu Miyamoto, and Noriyuki Fuku. "eQTL variants in COL22A1 are associated with muscle injury in athletes." Physiological Genomics 52, no. 12 (December 1, 2020): 588–89. http://dx.doi.org/10.1152/physiolgenomics.00115.2020.
Kantaputra, Piranit Nik, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C. Cox, and James R. Ketudat Cairns. "A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII." Genes 14, no. 2 (January 26, 2023): 322. http://dx.doi.org/10.3390/genes14020322.
Zhytnik, Lidiia, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks, and Aare Märtson. "De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta." Molecular Genetics & Genomic Medicine 7, no. 3 (January 24, 2019): e559. http://dx.doi.org/10.1002/mgg3.559.
Choi, Soon-Il, Se-Joon Woo, Baek-Lok Oh, Jinu Han, Hyun-Taek Lim, Byung-Joo Lee, Kwangsic Joo, et al. "Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1." Genes 12, no. 10 (October 5, 2021): 1578. http://dx.doi.org/10.3390/genes12101578.