Статті в журналах з теми "Variants du collagène"
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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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Eicher, John D., Ming-Huei Chen, Achilleas N. Pitsillides, Honghuang Lin, Narayanan Veeraraghavan, Jennifer A. Brody, Ginger A. Metcalf, et al. "Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation." Thrombosis and Haemostasis 117, no. 06 (2017): 1083–92. http://dx.doi.org/10.1160/th16-09-0677.
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.
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.
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.
Townsend, Amanda Rose, Rebecca Asher, Timothy Jay Price, Chee Khoon Lee, Hilary Dorward, Val Gebski, Yoko Tomita, Niall C. Tebbutt, and Jennifer Hardingham. "Single nucleotide polymorphisms (SNPs) in COL4A2, PPP1R17, and ARHGAPP44 and prognostic value in metastatic colorectal cancer (mCRC)." Journal of Clinical Oncology 36, no. 4_suppl (February 1, 2018): 720. http://dx.doi.org/10.1200/jco.2018.36.4_suppl.720.
Stanbury, Katherine, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, et al. "Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1." PLOS ONE 18, no. 12 (December 28, 2023): e0295851. http://dx.doi.org/10.1371/journal.pone.0295851.
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.
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.
Christen, Matthias, Henriëtte Booij-Vrieling, Jelena Oksa-Minalto, Cynthia de Vries, Alexandra Kehl, Vidhya Jagannathan, and Tosso Leeb. "MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA)." Genes 12, no. 10 (September 25, 2021): 1497. http://dx.doi.org/10.3390/genes12101497.
Bryant, Griffin, Peyton Moore, and Mohanakrishnan Sathyamoorthy. "The Association of a Single Nucleotide Variant in COL5A1 to Early Onset Keratoconus and Pectus Excavatum—Convergence of Extracellular Matrix Pathologies." Medicina 60, no. 6 (June 13, 2024): 974. http://dx.doi.org/10.3390/medicina60060974.
Daga, Sergio, Francesco Donati, Katia Capitani, Susanna Croci, Rossella Tita, Annarita Giliberti, Floriana Valentino, et al. "New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells." European Journal of Human Genetics 28, no. 4 (November 21, 2019): 480–90. http://dx.doi.org/10.1038/s41431-019-0537-8.
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.
Jacinto, Joana G. P., Irene M. Häfliger, Fintan J. McEvoy, Cord Drögemüller, and Jørgen S. Agerholm. "A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II." Animals 11, no. 2 (February 20, 2021): 561. http://dx.doi.org/10.3390/ani11020561.
Yousaf, Ahmed, Osama J. Boustany, Michael Gerbo, Shanawar Waris, Stephen Davis, Wei Fang, and Roxann Powers. "Localized Versus Generalized Granuloma Annulare: A Retrospective Review of 407 Patients." Journal of Cutaneous Medicine and Surgery 25, no. 4 (February 24, 2021): 384–89. http://dx.doi.org/10.1177/1203475421996319.
Plachy, Lukas, Petra Dusatkova, Klara Maratova, Lenka Petruzelkova, Stanislava Kolouskova, Marta Snajderova, Barbora Obermannova, et al. "Familial Short Stature - a Novel Phenotype of Growth Plate Collagenopathies." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A723. http://dx.doi.org/10.1210/jendso/bvab048.1472.
Saqlain, Muhammad, Madiha Khalid, Muhammad Fiaz, Sadia Saeed, Asad Mehmood Raja, Muhammad Mobeen Zafar, Tahzeeb Fatima, et al. "Risk variants of obesity associated genes demonstrate BMI raising effect in a large cohort." PLOS ONE 17, no. 9 (September 20, 2022): e0274904. http://dx.doi.org/10.1371/journal.pone.0274904.
Storoni, Silvia, Sara J. E. Verdonk, Lidiia Zhytnik, Gerard Pals, Sanne Treurniet, Mariet W. Elting, Ralph J. B. Sakkers, Joost G. van den Aardweg, Elisabeth M. W. Eekhoff, and Dimitra Micha. "From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients." Biomolecules 13, no. 2 (February 2, 2023): 281. http://dx.doi.org/10.3390/biom13020281.
Kurihara, Hiroki, Yasushi Imai, Takao Sugiyama, Chikuma Hamada, Eiichi Sakai, Mitsuko Mori, Ryozo Nagai, and Hiroyuki Morita. "Lack of Association between the Platelet Glycoprotein Ia C807T Gene Polymorphism and Myocardial Infarction in Japanese." Thrombosis and Haemostasis 85, no. 02 (2001): 226–30. http://dx.doi.org/10.1055/s-0037-1615702.
Koshevaya, Yulia S., Mariia E. Turkunova, Anastasia O. Vechkasova, Elena A. Serebryakova, Maxim Yu Donnikov, Svyatoslav I. Papanov, Alexander N. Chernov, et al. "Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients." Current Issues in Molecular Biology 46, no. 5 (April 29, 2024): 4106–18. http://dx.doi.org/10.3390/cimb46050252.
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.
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.
Agardh, Elisabeth, Gayle Teramura, Prashart Gaur, Lakshmi Gaur, Carl-David Agardh, and Alexander Reiner. "Diabetes duration may modify the association between genetic variation in the glycoprotein Ia subunit of the platelet collagen receptor and risk of severe diabetic retinopathy: a working hypothesis." Thrombosis and Haemostasis 89, no. 01 (2003): 142–48. http://dx.doi.org/10.1055/s-0037-1613553.
Kilianova, Zuzana, Natalia Ciznarova, Kristina Szmicsekova, Lubica Slobodova, and Anna Hrabovska. "Expression of cholinesterases and their anchoring proteins in rat heart." Canadian Journal of Physiology and Pharmacology 98, no. 7 (July 2020): 473–76. http://dx.doi.org/10.1139/cjpp-2019-0565.
Brake, Marisa A., Audrey C. Cleuren, Dakota R. Redshaw, Caitlin Schneider, Aaron Scholl, Adrianna Jurek, Martijn A. van der Ent, and Randy J. Westrick. "An Intergenic Noncoding Chromosome 18 Variant Suppresses Lethal Thrombosis in Mice By Normalizing Blood Coagulation and Reducing Platelet Reactivity." Blood 138, Supplement 1 (November 5, 2021): 442. http://dx.doi.org/10.1182/blood-2021-153531.
Snodgrass, James L., Nehal Mohamed, Julia M. Ross, Subrata Sau, Chia Y. Lee, and Mark S. Smeltzer. "Functional Analysis of the Staphylococcus aureus Collagen Adhesin B Domain." Infection and Immunity 67, no. 8 (August 1, 1999): 3952–59. http://dx.doi.org/10.1128/iai.67.8.3952-3959.1999.
McKinnon, Thomas A. J., Agata Anna Nowak, Alina Hua, Carolyn Millar, and Michael Laffan. "Flow Analysis of Von Willebrand Factor Collagen Binding Mutants." Blood 118, no. 21 (November 18, 2011): 2213. http://dx.doi.org/10.1182/blood.v118.21.2213.2213.
Garcia, Teresa Maria, Sarah Kiener, Vidhya Jagannathan, Duncan S. Russell, and Tosso Leeb. "A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa." Genes 11, no. 12 (December 4, 2020): 1458. http://dx.doi.org/10.3390/genes11121458.
Zadro, Renata, Dunja Rogić, Désirée Coen-Herak, Ernest Bilić, Sara Dejanović Bekić, Margareta Radić Antolic, and Ivana Lapić. "Reevaluation of von Willebrand disease diagnosis in a Croatian paediatric cohort combining bleeding scores, phenotypic laboratory assays and next generation sequencing." Biochemia medica 32, no. 1 (February 15, 2022): 85–97. http://dx.doi.org/10.11613/bm.2022.010707.
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.
Teige, B., G. Gogstad, F. Brosstad, and B. Olaisen. "Common structural genes for platelet and plasma fibrinogen." Blood 65, no. 1 (January 1, 1985): 120–26. http://dx.doi.org/10.1182/blood.v65.1.120.120.
Teige, B., G. Gogstad, F. Brosstad, and B. Olaisen. "Common structural genes for platelet and plasma fibrinogen." Blood 65, no. 1 (January 1, 1985): 120–26. http://dx.doi.org/10.1182/blood.v65.1.120.bloodjournal651120.